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Cholelithiasis

MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Synonyms: Gallstones
SNOMED CT: Biliary calculus (266474003); Cholelithiasis (266474003); CL - Cholelithiasis (266474003); Stone - biliary (266474003); Calculus - biliary (266474003); Calculus in biliary tract (266474003)
 
HPO: HP:0001081

Definition

Hard, pebble-like deposits that form within the gallbladder. [from HPO]

Conditions with this feature

Hb SS disease
MedGen UID:
287
Concept ID:
C0002895
Disease or Syndrome
Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a “splenic sequestration.” The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections. Acute chest syndrome is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation. Individuals with the highest rates of hemolysis are predisposed to pulmonary artery hypertension, priapism, and leg ulcers but may be relatively protected from vaso-occlusive pain.
Cholecystitis
MedGen UID:
920
Concept ID:
C0008325
Disease or Syndrome
In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes (125853), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome (605552) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer et al., 2005). Low phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3; 602347), intrahepatic cholestasis of pregnancy-3 (ICP3; 614972), andoral contraceptive-induced cholestasis (OCIC; see 614972). Genetic Heterogeneity of Gallbladder Disease Two major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, 609918; GBD3, 609919). In addition, variations in the ABCG8 gene (605460) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4; 611465).
DiGeorge sequence
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) have a range of findings including the following: Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus). Palatal abnormalities (69%), particularly velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate. Characteristic facial features (present in the majority of individuals of northern European heritage). Learning difficulties (70%-90%). An immune deficiency (regardless of the clinical presentation) (77%). Additional findings include the following: Hypocalcemia (50%). Significant feeding and swallowing problems; constipation with or without structural gastrointestinal anomalies (intestinal malrotation, imperforate anus, and Hirschsprung disease). Renal anomalies (31%). Hearing loss (both conductive and sensorineural). Laryngotracheoesophageal anomalies. Growth hormone deficiency. Autoimmune disorders. Seizures (idiopathic or associated with hypocalcemia). CNS anomalies including tethered cord. Skeletal abnormalities (scoliosis with or without vertebral anomalies, clubbed feet, polydactyly, and craniosynostosis). Ophthalmologic abnormalities (strabismus, posterior embryotoxon, tortuous retinal vessels, scleracornea, and anophthalmia). Enamel hypoplasia. Malignancies (rare). Developmental delay (in particular delays in emergence of language), intellectual disability, and learning differences (non-verbal learning disability where the verbal IQ is significantly greater than the performance IQ) are common. Autism or autistic spectrum disorder is found in approximately 20% of children and psychiatric illness (specifically schizophrenia) is present in 25% of adults; however, attention deficit disorder, anxiety, perseveration, and difficulty with social interactions are also common.
Glycogen storage disease, type VII
MedGen UID:
5342
Concept ID:
C0017926
Disease or Syndrome
Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.
Steinert myotonic dystrophy syndrome
MedGen UID:
10239
Concept ID:
C0027126
Disease or Syndrome
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Hereditary spherocytosis
MedGen UID:
52450
Concept ID:
C0037889
Disease or Syndrome
Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008). Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. Genetic Heterogeneity of Hereditary Spherocytosis Also see SPH2 (616649), caused by mutation in the SPTB gene (182870) on chromosome 14q23; SPH3 (270970), caused by mutation in the SPTA1 gene (182860) on chromosome 1q21; SPH4 (612653), caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21; and SPH5 (612690), caused by mutation in the EPB42 gene (177070) on chromosome 15q15.
Polyglandular autoimmune syndrome, type 1
MedGen UID:
39125
Concept ID:
C0085859
Disease or Syndrome
Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981).
Congenital erythropoietic porphyria
MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink to dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and mild bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from non-immune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.
Erythropoietic protoporphyria
MedGen UID:
56455
Concept ID:
C0162568
Disease or Syndrome
Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias.
Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid, increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
beta^0^ Thalassemia
MedGen UID:
506753
Concept ID:
C0271980
Disease or Syndrome
Xerocytosis
MedGen UID:
124415
Concept ID:
C0272051
Disease or Syndrome
Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013). The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999). Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see 609153), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see 609153), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary Stomatocytosis Dehydrated hereditary stomatocytosis-2 (DHS2; 616689) is caused by mutation in the KCNN4 gene (602754) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2; 609153), is caused by mutation in the ABCB6 gene (605452) on chromosome 2q35. Cryohydrocytosis (CHC; 185020) is caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; 608885) is caused by mutation in the SLC2A1 gene (138140) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST; 185000) is caused by mutation in the RHAG gene (180297) on chromosome 6p12. See 137280 for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. Reviews Delaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype. Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell. King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see 182900), hereditary elliptocytosis (see 611804), and hereditary pyropoikilocytosis (266140); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
HNSHA due to aldolase A deficiency
MedGen UID:
82895
Concept ID:
C0272066
Disease or Syndrome
Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).
Hemolytic anemia due to hexokinase deficiency
MedGen UID:
105369
Concept ID:
C0472792
Disease or Syndrome
Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).
Deficiency of bisphosphoglycerate mutase
MedGen UID:
489898
Concept ID:
C1291620
Disease or Syndrome
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Congenital dyserythropoietic anemia, type II
MedGen UID:
266296
Concept ID:
C1306589
Disease or Syndrome
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.Researchers have identified three major types of CDA: type I, type II, and type III. The types have different genetic causes and different but overlapping patterns of signs and symptoms.CDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes.The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis.The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma).Several other variants of CDA have been described, although they appear to be rare and not much is known about them. Once researchers discover the genetic causes of these variants, some of them may be grouped with the three major types of CDA.
Methemoglobinemia, beta-globin type
MedGen UID:
333645
Concept ID:
C1840779
Disease or Syndrome
Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.
Erythremia, Beta-Globin Type
MedGen UID:
327189
Concept ID:
C1840780
Disease or Syndrome
Pyruvate kinase deficiency of red cells
MedGen UID:
336607
Concept ID:
C1849472
Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005).
Beta-thalassemia, dominant inclusion body type
MedGen UID:
347036
Concept ID:
C1858990
Disease or Syndrome
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is more severe.The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty. Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth and bone abnormalities.
Cholestasis with gallstone, ataxia, and visual disturbance
MedGen UID:
347812
Concept ID:
C1859161
Disease or Syndrome
Triosephosphate isomerase deficiency
MedGen UID:
349893
Concept ID:
C1860808
Disease or Syndrome
Triosephosphate isomerase deficiency is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).
Gallbladder disease 4
MedGen UID:
370601
Concept ID:
C1969115
Disease or Syndrome
Benign recurrent intrahepatic cholestasis 2
MedGen UID:
435857
Concept ID:
C2608083
Disease or Syndrome
ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual’s clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers.
Spherocytosis type 1
MedGen UID:
382302
Concept ID:
C2674218
Disease or Syndrome
Protoporphyria, erythropoietic, X-linked
MedGen UID:
394385
Concept ID:
C2677889
Disease or Syndrome
X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Vesicular lesions are uncommon. Pain, which may seem out of proportion to the visible skin lesions, may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced. The phenotype in heterozygous females ranges from asymptomatic to as severe as affected males.
Malaria, resistance to
MedGen UID:
404075
Concept ID:
C2720293
Finding
Hyperbiliverdinemia
MedGen UID:
481594
Concept ID:
C3279964
Disease or Syndrome
Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the skin, urine, serum, and other bodily fluids, due to increased biliverdin resulting from inefficient conversion to bilirubin. Although rarely reported, affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. Green jaundice has also been associated with malnutrition, medication, and congenital biliary atresia (summary by Huffman et al., 2009).
Peroxisome biogenesis disorder 12A
MedGen UID:
766916
Concept ID:
C3554002
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.
Beta-plus-thalassemia
MedGen UID:
854234
Concept ID:
C3841475
Disease or Syndrome
HEMOGLOBIN PASADENA
MedGen UID:
854734
Concept ID:
C3888032
Finding
HEMOGLOBIN PERTH
MedGen UID:
854754
Concept ID:
C3888084
Finding
HEMOGLOBIN S
MedGen UID:
854851
Concept ID:
C3888302
Finding
HEMOGLOBIN BEOGRAD
MedGen UID:
854993
Concept ID:
C3889294
Finding
HEMOGLOBIN BETH ISRAEL
MedGen UID:
854994
Concept ID:
C3889295
Finding
HEMOGLOBIN BETHESDA
MedGen UID:
854995
Concept ID:
C3889296
Finding
HEMOGLOBIN BICETRE
MedGen UID:
854997
Concept ID:
C3889298
Finding
HEMOGLOBIN BOLOGNA
MedGen UID:
854999
Concept ID:
C3889300
Finding
HEMOGLOBIN BORAS
MedGen UID:
855000
Concept ID:
C3889301
Finding
HEMOGLOBIN BOUGARDIREY-MALI
MedGen UID:
855001
Concept ID:
C3889302
Finding
HEMOGLOBIN BREST
MedGen UID:
855003
Concept ID:
C3889304
Finding
HEMOGLOBIN BRIGHAM
MedGen UID:
855004
Concept ID:
C3889305
Finding
HEMOGLOBIN BRISBANE
MedGen UID:
855005
Concept ID:
C3889306
Finding
HEMOGLOBIN BRISTOL
MedGen UID:
855006
Concept ID:
C3889307
Finding
HEMOGLOBIN BRITISH COLUMBIA
MedGen UID:
855007
Concept ID:
C3889308
Finding
HEMOGLOBIN BROCKTON
MedGen UID:
855008
Concept ID:
C3889309
Finding
HEMOGLOBIN COWTOWN
MedGen UID:
855009
Concept ID:
C3889310
Finding
HEMOGLOBIN CRANSTON
MedGen UID:
855010
Concept ID:
C3889311
Finding
HEMOGLOBIN CRETE
MedGen UID:
855011
Concept ID:
C3889312
Finding
HEMOGLOBIN CRETEIL
MedGen UID:
855012
Concept ID:
C3889313
Finding
HEMOGLOBIN D (BUSHMAN)
MedGen UID:
855013
Concept ID:
C3889314
Finding
HEMOGLOBIN D (GRANADA)
MedGen UID:
855014
Concept ID:
C3889315
Finding
HEMOGLOBIN D (IBADAN)
MedGen UID:
855015
Concept ID:
C3889316
Finding
HEMOGLOBIN D (IRAN)
MedGen UID:
855016
Concept ID:
C3889317
Finding
HEMOGLOBIN D (OULED RABAH)
MedGen UID:
855017
Concept ID:
C3889318
Finding
HEMOGLOBIN D (PUNJAB)
MedGen UID:
855018
Concept ID:
C3889319
Finding
HEMOGLOBIN DEER LODGE
MedGen UID:
855019
Concept ID:
C3889320
Finding
HEMOGLOBIN DETROIT
MedGen UID:
855020
Concept ID:
C3889321
Finding
HEMOGLOBIN DJELFA
MedGen UID:
855021
Concept ID:
C3889322
Finding
HEMOGLOBIN DOHA
MedGen UID:
855022
Concept ID:
C3889323
Finding
HEMOGLOBIN DUARTE
MedGen UID:
855023
Concept ID:
C3889324
Finding
HEMOGLOBIN E
MedGen UID:
855024
Concept ID:
C3889325
Finding
HEMOGLOBIN E (SASKATOON)
MedGen UID:
855025
Concept ID:
C3889326
Finding
HEMOGLOBIN EDMONTON
MedGen UID:
855026
Concept ID:
C3889327
Finding
HEMOGLOBIN EXTREMADURA
MedGen UID:
855027
Concept ID:
C3889328
Finding
HEMOGLOBIN FANNIN-LUBBOCK
MedGen UID:
855028
Concept ID:
C3889329
Finding
HEMOGLOBIN FREIBURG
MedGen UID:
855029
Concept ID:
C3889330
Finding
HEMOGLOBIN FUKUOKA
MedGen UID:
855030
Concept ID:
C3889331
Finding
HEMOGLOBIN FUKUYAMA
MedGen UID:
855031
Concept ID:
C3889332
Finding
HEMOGLOBIN G (COPENHAGEN)
MedGen UID:
855032
Concept ID:
C3889333
Finding
HEMOGLOBIN G (COUSHATTA)
MedGen UID:
855033
Concept ID:
C3889334
Finding
HEMOGLOBIN G (FERRARA)
MedGen UID:
855034
Concept ID:
C3889335
Finding
HEMOGLOBIN G (GALVESTON)
MedGen UID:
855035
Concept ID:
C3889336
Finding
HEMOGLOBIN G (HSI-TSOU)
MedGen UID:
855036
Concept ID:
C3889337
Finding
HEMOGLOBIN G (MAKASSAR)
MedGen UID:
855037
Concept ID:
C3889338
Finding
HEMOGLOBIN G (SAN JOSE)
MedGen UID:
855038
Concept ID:
C3889339
Finding
HEMOGLOBIN G (SZUHU)
MedGen UID:
855039
Concept ID:
C3889340
Finding
HEMOGLOBIN G (TAIPEI)
MedGen UID:
855040
Concept ID:
C3889341
Finding
HEMOGLOBIN G (TAIWAN-AMI)
MedGen UID:
855041
Concept ID:
C3889342
Finding
HEMOGLOBIN GAINESVILLE-GA
MedGen UID:
855042
Concept ID:
C3889343
Finding
HEMOGLOBIN GAVELLO
MedGen UID:
855043
Concept ID:
C3889344
Finding
HEMOGLOBIN GEELONG
MedGen UID:
855044
Concept ID:
C3889345
Finding
HEMOGLOBIN GENOVA
MedGen UID:
855045
Concept ID:
C3889346
Finding
HEMOGLOBIN GRANGE-BLANCHE
MedGen UID:
855046
Concept ID:
C3889347
Finding
HEMOGLOBIN GUN HILL
MedGen UID:
855047
Concept ID:
C3889348
Finding
HEMOGLOBIN HAFNIA
MedGen UID:
855048
Concept ID:
C3889349
Finding
HEMOGLOBIN HAMADAN
MedGen UID:
855049
Concept ID:
C3889350
Finding
HEMOGLOBIN HAMILTON
MedGen UID:
855050
Concept ID:
C3889351
Finding
HEMOGLOBIN HAMMERSMITH
MedGen UID:
855051
Concept ID:
C3889352
Finding
HEMOGLOBIN HAZEBROUCK
MedGen UID:
855052
Concept ID:
C3889353
Finding
HEMOGLOBIN HEATHROW
MedGen UID:
855053
Concept ID:
C3889354
Finding
HEMOGLOBIN WACO
MedGen UID:
855058
Concept ID:
C3889359
Finding
HEMOGLOBIN GREAT LAKES
MedGen UID:
855059
Concept ID:
C3889360
Finding
HEMOGLOBIN BUENOS AIRES
MedGen UID:
855060
Concept ID:
C3889361
Finding
HEMOGLOBIN TOKUCHI
MedGen UID:
855061
Concept ID:
C3889362
Finding
HEMOGLOBIN D (LOS ANGELES)
MedGen UID:
855062
Concept ID:
C3889363
Finding
HEMOGLOBIN OAK RIDGE
MedGen UID:
855063
Concept ID:
C3889364
Finding
HEMOGLOBIN TOULOUSE
MedGen UID:
855064
Concept ID:
C3889365
Finding
HEMOGLOBIN J (COSENZA)
MedGen UID:
855065
Concept ID:
C3889366
Finding
HEMOGLOBIN MEILAHTI
MedGen UID:
855066
Concept ID:
C3889367
Finding
HEMOGLOBIN BUCURESTI
MedGen UID:
855067
Concept ID:
C3889368
Finding
HEMOGLOBIN LONG ISLAND
MedGen UID:
855068
Concept ID:
C3889369
Finding
HEMOGLOBIN NANCY
MedGen UID:
855069
Concept ID:
C3889370
Finding
HEMOGLOBIN FORT GORDON
MedGen UID:
855070
Concept ID:
C3889371
Finding
HEMOGLOBIN WARSAW
MedGen UID:
855071
Concept ID:
C3889372
Finding
HEMOGLOBIN LESLIE
MedGen UID:
855072
Concept ID:
C3889373
Finding
HEMOGLOBIN DEACONESS
MedGen UID:
855073
Concept ID:
C3889374
Finding
HEMOGLOBIN CASPER
MedGen UID:
855074
Concept ID:
C3889375
Finding
HEMOGLOBIN PETERBOROUGH
MedGen UID:
855328
Concept ID:
C3889844
Finding
HEMOGLOBIN PHILLY
MedGen UID:
855329
Concept ID:
C3889845
Finding
HEMOGLOBIN PIERRE-BENITE
MedGen UID:
855330
Concept ID:
C3889846
Finding
HEMOGLOBIN PITIE-SALPETRIERE
MedGen UID:
855331
Concept ID:
C3889847
Finding
HEMOGLOBIN POISSY
MedGen UID:
855333
Concept ID:
C3889849
Finding
HEMOGLOBIN PORTO ALEGRE
MedGen UID:
855334
Concept ID:
C3889850
Finding
HEMOGLOBIN POTOMAC
MedGen UID:
855335
Concept ID:
C3889851
Finding
HEMOGLOBIN PRESBYTERIAN
MedGen UID:
855337
Concept ID:
C3889853
Finding
HEMOGLOBIN PROVIDENCE
MedGen UID:
855338
Concept ID:
C3889854
Finding
HEMOGLOBIN PYRGOS
MedGen UID:
855339
Concept ID:
C3889855
Finding
HEMOGLOBIN QUIN-HAI
MedGen UID:
855340
Concept ID:
C3889856
Finding
HEMOGLOBIN RADCLIFFE
MedGen UID:
855342
Concept ID:
C3889858
Finding
HEMOGLOBIN RAHERE
MedGen UID:
855343
Concept ID:
C3889859
Finding
HEMOGLOBIN RAINIER
MedGen UID:
855344
Concept ID:
C3889860
Finding
HEMOGLOBIN RALEIGH
MedGen UID:
855345
Concept ID:
C3889861
Finding
HEMOGLOBIN RANDWICK
MedGen UID:
855347
Concept ID:
C3889863
Finding
HEMOGLOBIN REGINA
MedGen UID:
855348
Concept ID:
C3889864
Finding
HEMOGLOBIN RICHMOND
MedGen UID:
855349
Concept ID:
C3889865
Finding
HEMOGLOBIN RIO GRANDE
MedGen UID:
855350
Concept ID:
C3889866
Finding
HEMOGLOBIN RIVERDALE-BRONX
MedGen UID:
855351
Concept ID:
C3889867
Finding
HEMOGLOBIN RIYADH
MedGen UID:
855352
Concept ID:
C3889868
Finding
HEMOGLOBIN ROSEAU-POINTE A PITRE
MedGen UID:
855353
Concept ID:
C3889869
Finding
HEMOGLOBIN ROTHSCHILD
MedGen UID:
855354
Concept ID:
C3889870
Finding
HEMOGLOBIN RUSH
MedGen UID:
855355
Concept ID:
C3889871
Finding
HEMOGLOBIN SABINE
MedGen UID:
855356
Concept ID:
C3889872
Finding
HEMOGLOBIN SAINT ETIENNE
MedGen UID:
855357
Concept ID:
C3889873
Finding
HEMOGLOBIN SAINT JACQUES
MedGen UID:
855358
Concept ID:
C3889874
Finding
HEMOGLOBIN SAITAMA
MedGen UID:
855359
Concept ID:
C3889875
Finding
HEMOGLOBIN SAKI
MedGen UID:
855360
Concept ID:
C3889876
Finding
HEMOGLOBIN SAN DIEGO
MedGen UID:
855362
Concept ID:
C3889878
Finding
HEMOGLOBIN SANTA ANA
MedGen UID:
855363
Concept ID:
C3889879
Finding
HEMOGLOBIN SAVANNAH
MedGen UID:
855364
Concept ID:
C3889880
Finding
HEMOGLOBIN SAVERNE
MedGen UID:
855365
Concept ID:
C3889881
Finding
HEMOGLOBIN SOUTH FLORIDA
MedGen UID:
855367
Concept ID:
C3889883
Finding
HEMOGLOBIN SOUTHAMPTON
MedGen UID:
855368
Concept ID:
C3889884
Finding
HEMOGLOBIN ST. ANTOINE
MedGen UID:
855370
Concept ID:
C3889886
Finding
HEMOGLOBIN ST. LOUIS
MedGen UID:
855371
Concept ID:
C3889887
Finding
HEMOGLOBIN ST. MANDE
MedGen UID:
855372
Concept ID:
C3889888
Finding
HEMOGLOBIN STANMORE
MedGen UID:
855373
Concept ID:
C3889889
Finding
HEMOGLOBIN STRASBOURG
MedGen UID:
855374
Concept ID:
C3889890
Finding
HEMOGLOBIN BRUXELLES
MedGen UID:
855377
Concept ID:
C3889893
Finding
HEMOGLOBIN BRYN MAWR
MedGen UID:
855378
Concept ID:
C3889894
Finding
HEMOGLOBIN BUNBURY
MedGen UID:
855379
Concept ID:
C3889895
Finding
HEMOGLOBIN BURKE
MedGen UID:
855380
Concept ID:
C3889896
Finding
HEMOGLOBIN BUSHWICK
MedGen UID:
855381
Concept ID:
C3889897
Finding
HEMOGLOBIN C
MedGen UID:
855382
Concept ID:
C3889898
Finding
HEMOGLOBIN CAMDEN
MedGen UID:
855383
Concept ID:
C3889899
Finding
HEMOGLOBIN CAMPERDOWN
MedGen UID:
855384
Concept ID:
C3889900
Finding
HEMOGLOBIN CARIBBEAN
MedGen UID:
855386
Concept ID:
C3889902
Finding
HEMOGLOBIN CASTILLA
MedGen UID:
855387
Concept ID:
C3889903
Finding
HEMOGLOBIN CHANDIGARH
MedGen UID:
855388
Concept ID:
C3889904
Finding
HEMOGLOBIN CHEMILLY
MedGen UID:
855390
Concept ID:
C3889906
Finding
HEMOGLOBIN CHEVERLY
MedGen UID:
855391
Concept ID:
C3889907
Finding
HEMOGLOBIN CHICO
MedGen UID:
855392
Concept ID:
C3889908
Finding
HEMOGLOBIN CHRISTCHURCH
MedGen UID:
855393
Concept ID:
C3889909
Finding
HEMOGLOBIN CITY OF HOPE
MedGen UID:
855394
Concept ID:
C3889910
Finding
HEMOGLOBIN COCHIN-PORT ROYAL
MedGen UID:
855396
Concept ID:
C3889912
Finding
HEMOGLOBIN COCODY
MedGen UID:
855397
Concept ID:
C3889913
Finding
HEMOGLOBIN HELSINKI
MedGen UID:
855398
Concept ID:
C3889914
Finding
HEMOGLOBIN HENRI MONDOR
MedGen UID:
855399
Concept ID:
C3889915
Finding
HEMOGLOBIN HIJIYAMA
MedGen UID:
855400
Concept ID:
C3889916
Finding
HEMOGLOBIN HIKARI
MedGen UID:
855401
Concept ID:
C3889917
Finding
HEMOGLOBIN HIMEJI
MedGen UID:
855402
Concept ID:
C3889918
Finding
HEMOGLOBIN HINSDALE
MedGen UID:
855403
Concept ID:
C3889919
Finding
HEMOGLOBIN HIROSE
MedGen UID:
855404
Concept ID:
C3889920
Finding
HEMOGLOBIN HIROSHIMA
MedGen UID:
855405
Concept ID:
C3889921
Finding
HEMOGLOBIN HOFU
MedGen UID:
855406
Concept ID:
C3889922
Finding
HEMOGLOBIN HOPE
MedGen UID:
855407
Concept ID:
C3889923
Finding
HEMOGLOBIN HOSHIDA
MedGen UID:
855408
Concept ID:
C3889924
Finding
HEMOGLOBIN HOTEL-DIEU
MedGen UID:
855409
Concept ID:
C3889925
Finding
HEMOGLOBIN I (HIGH WYCOMBE)
MedGen UID:
855410
Concept ID:
C3889926
Finding
HEMOGLOBIN I (TOULOUSE)
MedGen UID:
855411
Concept ID:
C3889927
Finding
HEMOGLOBIN INDIANAPOLIS
MedGen UID:
855412
Concept ID:
C3889928
Finding
HEMOGLOBIN J (ALTGELD GARDENS)
MedGen UID:
855413
Concept ID:
C3889929
Finding
HEMOGLOBIN J (AMIENS)
MedGen UID:
855414
Concept ID:
C3889930
Finding
HEMOGLOBIN J (ANTAKYA)
MedGen UID:
855415
Concept ID:
C3889931
Finding
HEMOGLOBIN J (AUCKLAND)
MedGen UID:
855416
Concept ID:
C3889932
Finding
HEMOGLOBIN J (BALTIMORE)
MedGen UID:
855417
Concept ID:
C3889933
Finding
HEMOGLOBIN J (BANGKOK)
MedGen UID:
855418
Concept ID:
C3889934
Finding
HEMOGLOBIN J (CAIRO)
MedGen UID:
855419
Concept ID:
C3889935
Finding
HEMOGLOBIN J (CALABRIA)
MedGen UID:
855420
Concept ID:
C3889936
Finding
HEMOGLOBIN J (CHICAGO)
MedGen UID:
855421
Concept ID:
C3889937
Finding
HEMOGLOBIN J (DALOA)
MedGen UID:
855422
Concept ID:
C3889938
Finding
HEMOGLOBIN J (GUANTANAMO)
MedGen UID:
855423
Concept ID:
C3889939
Finding
HEMOGLOBIN J (IRAN)
MedGen UID:
855424
Concept ID:
C3889940
Finding
HEMOGLOBIN J (LENS)
MedGen UID:
855425
Concept ID:
C3889941
Finding
HEMOGLOBIN J (LOME)
MedGen UID:
855426
Concept ID:
C3889942
Finding
HEMOGLOBIN J (LUHE)
MedGen UID:
855427
Concept ID:
C3889943
Finding
HEMOGLOBIN J (SICILIA)
MedGen UID:
855428
Concept ID:
C3889944
Finding
HEMOGLOBIN J (TAICHUNG)
MedGen UID:
855429
Concept ID:
C3889945
Finding
HEMOGLOBIN JIANGHUA
MedGen UID:
855430
Concept ID:
C3889946
Finding
HEMOGLOBIN JOHNSTOWN
MedGen UID:
855431
Concept ID:
C3889947
Finding
HEMOGLOBIN K (CAMEROON)
MedGen UID:
855432
Concept ID:
C3889948
Finding
HEMOGLOBIN K (IBADAN)
MedGen UID:
855433
Concept ID:
C3889949
Finding
HEMOGLOBIN K (WOOLWICH)
MedGen UID:
855434
Concept ID:
C3889950
Finding
HEMOGLOBIN KANSAS
MedGen UID:
855435
Concept ID:
C3889951
Finding
HEMOGLOBIN KEMPSEY
MedGen UID:
855436
Concept ID:
C3889952
Finding
HEMOGLOBIN KENITRA
MedGen UID:
855437
Concept ID:
C3889953
Finding
HEMOGLOBIN KHARTOUM
MedGen UID:
855438
Concept ID:
C3889954
Finding
HEMOGLOBIN KNOSSOS
MedGen UID:
855439
Concept ID:
C3889955
Finding
HEMOGLOBIN KOFU
MedGen UID:
855440
Concept ID:
C3889956
Finding
HEMOGLOBIN KOLN
MedGen UID:
855441
Concept ID:
C3889957
Finding
HEMOGLOBIN KORIYAMA
MedGen UID:
855442
Concept ID:
C3889958
Finding
HEMOGLOBIN KORLE-BU
MedGen UID:
855443
Concept ID:
C3889959
Finding
HEMOGLOBIN LA DESIRADE
MedGen UID:
855444
Concept ID:
C3889960
Finding
HEMOGLOBIN HACETTEPE
MedGen UID:
855446
Concept ID:
C3889962
Finding
HEMOGLOBIN DHOFAR
MedGen UID:
855451
Concept ID:
C3889967
Finding
HEMOGLOBIN GENEVA
MedGen UID:
855452
Concept ID:
C3889968
Finding
HEMOGLOBIN SENDAGI
MedGen UID:
855586
Concept ID:
C3890358
Finding
HEMOGLOBIN SHANGHAI
MedGen UID:
855587
Concept ID:
C3890359
Finding
HEMOGLOBIN SEATTLE
MedGen UID:
855588
Concept ID:
C3890360
Finding
HEMOGLOBIN SHELBY
MedGen UID:
855589
Concept ID:
C3890361
Finding
HEMOGLOBIN SHEPHERDS BUSH
MedGen UID:
855590
Concept ID:
C3890363
Finding
HEMOGLOBIN SHERWOOD FOREST
MedGen UID:
855591
Concept ID:
C3890364
Finding
HEMOGLOBIN SHOWA-YAKUSHIJI
MedGen UID:
855592
Concept ID:
C3890366
Finding
HEMOGLOBIN SIRIRAJ
MedGen UID:
855593
Concept ID:
C3890368
Finding
HEMOGLOBIN SOGN
MedGen UID:
855594
Concept ID:
C3890369
Finding
HEMOGLOBIN YPSILANTI
MedGen UID:
855640
Concept ID:
C3890416
Finding
HEMOGLOBIN YUSA
MedGen UID:
855641
Concept ID:
C3890417
Finding
HEMOGLOBIN ZURICH
MedGen UID:
855642
Concept ID:
C3890418
Finding
HEMOGLOBIN LAS PALMAS
MedGen UID:
855759
Concept ID:
C3890755
Finding
HEMOGLOBIN LEIDEN
MedGen UID:
855760
Concept ID:
C3890756
Finding
HEMOGLOBIN LINCOLN PARK
MedGen UID:
855761
Concept ID:
C3890757
Finding
HEMOGLOBIN LINKOPING
MedGen UID:
855762
Concept ID:
C3890758
Finding
HEMOGLOBIN LITTLE ROCK
MedGen UID:
855763
Concept ID:
C3890759
Finding
HEMOGLOBIN LOUISVILLE
MedGen UID:
855764
Concept ID:
C3890760
Finding
HEMOGLOBIN LUFKIN
MedGen UID:
855765
Concept ID:
C3890761
Finding
HEMOGLOBIN LYON
MedGen UID:
855766
Concept ID:
C3890762
Finding
HEMOGLOBIN MACHIDA
MedGen UID:
855767
Concept ID:
C3890763
Finding
HEMOGLOBIN MADRID
MedGen UID:
855768
Concept ID:
C3890764
Finding
HEMOGLOBIN MALAY
MedGen UID:
855769
Concept ID:
C3890765
Finding
HEMOGLOBIN MALMO
MedGen UID:
855770
Concept ID:
C3890766
Finding
HEMOGLOBIN MAPUTO
MedGen UID:
855772
Concept ID:
C3890768
Finding
HEMOGLOBIN MARSEILLE
MedGen UID:
855773
Concept ID:
C3890769
Finding
HEMOGLOBIN MASUDA
MedGen UID:
855774
Concept ID:
C3890770
Finding
HEMOGLOBIN MATERA
MedGen UID:
855775
Concept ID:
C3890771
Finding
HEMOGLOBIN M (SASKATOON)
MedGen UID:
855906
Concept ID:
C3891120
Finding
HEMOGLOBIN MEQUON
MedGen UID:
855907
Concept ID:
C3891121
Finding
HEMOGLOBIN MCKEES ROCKS
MedGen UID:
855908
Concept ID:
C3891122
Finding
HEMOGLOBIN MINNEAPOLIS-LAOS
MedGen UID:
855909
Concept ID:
C3891123
Finding
HEMOGLOBIN MISSISSIPPI
MedGen UID:
855910
Concept ID:
C3891124
Finding
HEMOGLOBIN MITO
MedGen UID:
855911
Concept ID:
C3891125
Finding
HEMOGLOBIN MIYADA
MedGen UID:
855912
Concept ID:
C3891126
Finding
HEMOGLOBIN MIYASHIRO
MedGen UID:
855913
Concept ID:
C3891127
Finding
HEMOGLOBIN MIZUHO
MedGen UID:
855914
Concept ID:
C3891128
Finding
HEMOGLOBIN MOBILE
MedGen UID:
855915
Concept ID:
C3891129
Finding
HEMOGLOBIN MORIGUCHI
MedGen UID:
855916
Concept ID:
C3891130
Finding
HEMOGLOBIN MOSCVA
MedGen UID:
855917
Concept ID:
C3891131
Finding
HEMOGLOBIN MOZHAISK
MedGen UID:
855918
Concept ID:
C3891132
Finding
HEMOGLOBIN N (BALTIMORE)
MedGen UID:
855919
Concept ID:
C3891133
Finding
HEMOGLOBIN N (SEATTLE)
MedGen UID:
855920
Concept ID:
C3891134
Finding
HEMOGLOBIN NAGASAKI
MedGen UID:
855921
Concept ID:
C3891135
Finding
HEMOGLOBIN NAGOYA
MedGen UID:
855922
Concept ID:
C3891136
Finding
HEMOGLOBIN NEVERS
MedGen UID:
855923
Concept ID:
C3891137
Finding
HEMOGLOBIN NEW MEXICO
MedGen UID:
855924
Concept ID:
C3891138
Finding
HEMOGLOBIN NEW YORK
MedGen UID:
855925
Concept ID:
C3891139
Finding
HEMOGLOBIN NEWCASTLE
MedGen UID:
855926
Concept ID:
C3891140
Finding
HEMOGLOBIN NITEROI
MedGen UID:
855927
Concept ID:
C3891141
Finding
HEMOGLOBIN NORTH CHICAGO
MedGen UID:
855928
Concept ID:
C3891142
Finding
HEMOGLOBIN NORTH SHORE
MedGen UID:
855929
Concept ID:
C3891143
Finding
HEMOGLOBIN NOTTINGHAM
MedGen UID:
855930
Concept ID:
C3891144
Finding
HEMOGLOBIN O (ARAB)
MedGen UID:
855931
Concept ID:
C3891145
Finding
HEMOGLOBIN OCHO RIOS
MedGen UID:
855932
Concept ID:
C3891146
Finding
HEMOGLOBIN OHIO
MedGen UID:
855933
Concept ID:
C3891147
Finding
HEMOGLOBIN OKALOOSA
MedGen UID:
855934
Concept ID:
C3891148
Finding
HEMOGLOBIN OKAYAMA
MedGen UID:
855935
Concept ID:
C3891149
Finding
HEMOGLOBIN OKAZAKI
MedGen UID:
855936
Concept ID:
C3891150
Finding
HEMOGLOBIN COLLINGWOOD
MedGen UID:
855937
Concept ID:
C3891151
Finding
HEMOGLOBIN MONROE
MedGen UID:
855938
Concept ID:
C3891152
Finding
HEMOGLOBIN AALBORG
MedGen UID:
855969
Concept ID:
C3891407
Finding
HEMOGLOBIN ABRUZZO
MedGen UID:
855970
Concept ID:
C3891408
Finding
HEMOGLOBIN AGENOGI
MedGen UID:
855971
Concept ID:
C3891409
Finding
HEMOGLOBIN ALABAMA
MedGen UID:
855974
Concept ID:
C3891412
Finding
HEMOGLOBIN ALAMO
MedGen UID:
855975
Concept ID:
C3891413
Finding
HEMOGLOBIN ALBERTA
MedGen UID:
855977
Concept ID:
C3891415
Finding
HEMOGLOBIN ALTDORF
MedGen UID:
855997
Concept ID:
C3891435
Finding
HEMOGLOBIN ANDREW-MINNEAPOLIS
MedGen UID:
855998
Concept ID:
C3891436
Finding
HEMOGLOBIN OLMSTED
MedGen UID:
855999
Concept ID:
C3891437
Finding
HEMOGLOBIN OLOMOUC
MedGen UID:
856000
Concept ID:
C3891438
Finding
HEMOGLOBIN OLYMPIA
MedGen UID:
856001
Concept ID:
C3891439
Finding
HEMOGLOBIN OSLER
MedGen UID:
856002
Concept ID:
C3891440
Finding
HEMOGLOBIN OSU CHRISTIANSBORG
MedGen UID:
856003
Concept ID:
C3891441
Finding
HEMOGLOBIN P
MedGen UID:
856004
Concept ID:
C3891442
Finding
HEMOGLOBIN P (CONGO)
MedGen UID:
856005
Concept ID:
C3891443
Finding
HEMOGLOBIN P (NILOTIC)
MedGen UID:
856006
Concept ID:
C3891444
Finding
HEMOGLOBIN PALMERSTON NORTH
MedGen UID:
856007
Concept ID:
C3891445
Finding
HEMOGLOBIN S (ANTILLES)
MedGen UID:
856008
Concept ID:
C3891446
Finding
HEMOGLOBIN S (TRAVIS)
MedGen UID:
856009
Concept ID:
C3891447
Finding
HEMOGLOBIN ANKARA
MedGen UID:
856034
Concept ID:
C3891665
Finding
HEMOGLOBIN ARLINGTON PARK
MedGen UID:
856035
Concept ID:
C3891666
Finding
HEMOGLOBIN ATHENS-GEORGIA
MedGen UID:
856036
Concept ID:
C3891667
Finding
HEMOGLOBIN ATLANTA
MedGen UID:
856037
Concept ID:
C3891668
Finding
HEMOGLOBIN ATLANTA-COVENTRY
MedGen UID:
856038
Concept ID:
C3891669
Finding
HEMOGLOBIN AUSTIN
MedGen UID:
856039
Concept ID:
C3891670
Finding
HEMOGLOBIN AVICENNA
MedGen UID:
856040
Concept ID:
C3891671
Finding
HEMOGLOBIN BARCELONA
MedGen UID:
856041
Concept ID:
C3891672
Finding
HEMOGLOBIN BAYLOR
MedGen UID:
856042
Concept ID:
C3891673
Finding
HEMOGLOBIN BEIRUT
MedGen UID:
856043
Concept ID:
C3891674
Finding
HEMOGLOBIN BELFAST
MedGen UID:
856044
Concept ID:
C3891675
Finding
HEMOGLOBIN C (GEORGETOWN)
MedGen UID:
856045
Concept ID:
C3891676
Finding
HEMOGLOBIN C (ZIGUINCHOR)
MedGen UID:
856046
Concept ID:
C3891677
Finding
HEMOGLOBIN CONNECTICUT
MedGen UID:
856047
Concept ID:
C3891678
Finding
HEMOGLOBIN COVENTRY
MedGen UID:
856048
Concept ID:
C3891679
Finding
HEMOGLOBIN SUMMER HILL
MedGen UID:
856049
Concept ID:
C3891680
Finding
HEMOGLOBIN SUNNYBROOK
MedGen UID:
856050
Concept ID:
C3891681
Finding
HEMOGLOBIN SYDNEY
MedGen UID:
856051
Concept ID:
C3891682
Finding
HEMOGLOBIN SYRACUSE
MedGen UID:
856052
Concept ID:
C3891683
Finding
HEMOGLOBIN T (CAMBODIA)
MedGen UID:
856053
Concept ID:
C3891684
Finding
HEMOGLOBIN TA-LI
MedGen UID:
856054
Concept ID:
C3891685
Finding
HEMOGLOBIN TACOMA
MedGen UID:
856055
Concept ID:
C3891686
Finding
HEMOGLOBIN TAK
MedGen UID:
856056
Concept ID:
C3891687
Finding
HEMOGLOBIN TAKAMATSU
MedGen UID:
856057
Concept ID:
C3891688
Finding
HEMOGLOBIN TAMPA
MedGen UID:
856058
Concept ID:
C3891689
Finding
HEMOGLOBIN TIANSHUI
MedGen UID:
856059
Concept ID:
C3891690
Finding
HEMOGLOBIN TOCHIGI
MedGen UID:
856060
Concept ID:
C3891691
Finding
HEMOGLOBIN TOURS
MedGen UID:
856061
Concept ID:
C3891692
Finding
HEMOGLOBIN TOYOAKE
MedGen UID:
856062
Concept ID:
C3891693
Finding
HEMOGLOBIN TUBINGEN
MedGen UID:
856063
Concept ID:
C3891694
Finding
HEMOGLOBIN TUNIS
MedGen UID:
856064
Concept ID:
C3891695
Finding
HEMOGLOBIN TY GARD
MedGen UID:
856065
Concept ID:
C3891696
Finding
HEMOGLOBIN VAASA
MedGen UID:
856066
Concept ID:
C3891697
Finding
HEMOGLOBIN VANCOUVER
MedGen UID:
856067
Concept ID:
C3891698
Finding
HEMOGLOBIN VANDERBILT
MedGen UID:
856068
Concept ID:
C3891699
Finding
HEMOGLOBIN VICKSBURG
MedGen UID:
856069
Concept ID:
C3891700
Finding
HEMOGLOBIN VILLEJUIF
MedGen UID:
856070
Concept ID:
C3891701
Finding
HEMOGLOBIN VOLGA
MedGen UID:
856071
Concept ID:
C3891702
Finding
HEMOGLOBIN WARWICKSHIRE
MedGen UID:
856072
Concept ID:
C3891703
Finding
HEMOGLOBIN WIEN
MedGen UID:
856073
Concept ID:
C3891704
Finding
HEMOGLOBIN WILLAMETTE
MedGen UID:
856074
Concept ID:
C3891705
Finding
HEMOGLOBIN WINDSOR
MedGen UID:
856075
Concept ID:
C3891706
Finding
HEMOGLOBIN WOOD
MedGen UID:
856076
Concept ID:
C3891707
Finding
HEMOGLOBIN YAKIMA
MedGen UID:
856077
Concept ID:
C3891708
Finding
HEMOGLOBIN YAMAGATA
MedGen UID:
856078
Concept ID:
C3891709
Finding
HEMOGLOBIN YATSUSHIRO
MedGen UID:
856079
Concept ID:
C3891710
Finding
HEMOGLOBIN YOKOHAMA
MedGen UID:
856080
Concept ID:
C3891711
Finding
HEMOGLOBIN YORK
MedGen UID:
856081
Concept ID:
C3891712
Finding
HEMOGLOBIN YOSHIZUKA
MedGen UID:
856097
Concept ID:
C3891918
Finding
HEMOGLOBIN P (GALVESTON)
MedGen UID:
856156
Concept ID:
C3892932
Finding
HEMOGLOBIN M (HYDE PARK)
MedGen UID:
856158
Concept ID:
C3892934
Finding
HEMOGLOBIN MS
MedGen UID:
856159
Concept ID:
C3892935
Finding
HEMOGLOBIN C (HARLEM)
MedGen UID:
856162
Concept ID:
C3893182
Finding
HEMOGLOBIN G (ACCRA)
MedGen UID:
864596
Concept ID:
C4016159
Finding
HEMOGLOBIN ISTANBUL
MedGen UID:
864597
Concept ID:
C4016160
Finding
HEMOGLOBIN J (CORDOBA)
MedGen UID:
864598
Concept ID:
C4016161
Finding
HEMOGLOBIN J (KAOHSIUNG)
MedGen UID:
864599
Concept ID:
C4016162
Finding
HEMOGLOBIN J (RAMBAM)
MedGen UID:
864600
Concept ID:
C4016163
Finding
HEMOGLOBIN KAIROUAN
MedGen UID:
864601
Concept ID:
C4016164
Finding
HEMOGLOBIN M (MILWAUKEE 1)
MedGen UID:
864602
Concept ID:
C4016165
Finding
HEMOGLOBIN M (MILWAUKEE 2)
MedGen UID:
864603
Concept ID:
C4016166
Finding
HEMOGLOBIN MIZUNAMI
MedGen UID:
864604
Concept ID:
C4016167
Finding
HEMOGLOBIN N, BETA TYPE
MedGen UID:
864605
Concept ID:
C4016168
Finding
HEMOGLOBIN N (MEMPHIS)
MedGen UID:
864606
Concept ID:
C4016169
Finding
HEMOGLOBIN N (TIMONE)
MedGen UID:
864607
Concept ID:
C4016170
Finding
HEMOGLOBIN S (OMAN)
MedGen UID:
864608
Concept ID:
C4016171
Finding
HEMOGLOBIN S (PROVIDENCE)
MedGen UID:
864609
Concept ID:
C4016172
Finding
HEMOGLOBIN TILBURG
MedGen UID:
864610
Concept ID:
C4016173
Finding
HEMOGLOBIN YUKUHASHI
MedGen UID:
864611
Concept ID:
C4016174
Finding
HEMOGLOBIN HOUSTON
MedGen UID:
864612
Concept ID:
C4016175
Finding
HEMOGLOBIN D (CAMPERDOWN)
MedGen UID:
865901
Concept ID:
C4017464
Finding
HEINZ BODY HEMOLYTIC ANEMIA
MedGen UID:
865902
Concept ID:
C4017465
Disease or Syndrome
HEMOGLOBIN ZIGUINCHOR
MedGen UID:
865903
Concept ID:
C4017466
Finding
HEMOGLOBIN MOTOWN
MedGen UID:
865904
Concept ID:
C4017467
Finding
HEMOGLOBIN D (CHICAGO)
MedGen UID:
865905
Concept ID:
C4017468
Finding
HEMOGLOBIN D (NORTH CAROLINA)
MedGen UID:
865906
Concept ID:
C4017469
Finding
HEMOGLOBIN D (PORTUGAL)
MedGen UID:
865907
Concept ID:
C4017470
Finding
BETA-E-THALASSEMIA
MedGen UID:
865908
Concept ID:
C4017471
Finding
HEMOGLOBIN M (FREIBURG)
MedGen UID:
865909
Concept ID:
C4017472
Finding
HEMOGLOBIN G (SASKATOON)
MedGen UID:
865910
Concept ID:
C4017473
Finding
HEMOGLOBIN G (HSIN-CHU)
MedGen UID:
865911
Concept ID:
C4017474
Finding
HEMOGLOBIN G (TAEGU)
MedGen UID:
865912
Concept ID:
C4017475
Finding
HEMOGLOBIN G (PORT ARTHUR)
MedGen UID:
865913
Concept ID:
C4017476
Finding
HEMOGLOBIN G (TEXAS)
MedGen UID:
865914
Concept ID:
C4017477
Finding
HEMOGLOBIN GIFU
MedGen UID:
865915
Concept ID:
C4017478
Finding
HEMOGLOBIN JINAN
MedGen UID:
865916
Concept ID:
C4017479
Finding
HEMOGLOBIN HYOGO
MedGen UID:
865917
Concept ID:
C4017480
Finding
HEMOGLOBIN CHIBA
MedGen UID:
865918
Concept ID:
C4017481
Finding
HEMOGLOBIN CHAYA
MedGen UID:
865919
Concept ID:
C4017482
Finding
HEMOGLOBIN J (IRELAND)
MedGen UID:
865920
Concept ID:
C4017483
Finding
HEMOGLOBIN J (TRINIDAD)
MedGen UID:
865921
Concept ID:
C4017484
Finding
HEMOGLOBIN J (GEORGIA)
MedGen UID:
865922
Concept ID:
C4017485
Finding
HEMOGLOBIN N (NEW HAVEN 2)
MedGen UID:
865923
Concept ID:
C4017486
Finding
HEMOGLOBIN J (KORAT)
MedGen UID:
865924
Concept ID:
C4017487
Finding
HEMOGLOBIN J (MANADO)
MedGen UID:
865925
Concept ID:
C4017488
Finding
HEMOGLOBIN J (MEINUNG)
MedGen UID:
865926
Concept ID:
C4017489
Finding
HEMOGLOBIN J (BARI)
MedGen UID:
865927
Concept ID:
C4017490
Finding
HEMOGLOBIN J (HONOLULU)
MedGen UID:
865928
Concept ID:
C4017491
Finding
HEMOGLOBIN J (CAMBRIDGE)
MedGen UID:
865929
Concept ID:
C4017492
Finding
HEMOGLOBIN REISSMANN ET AL.
MedGen UID:
865930
Concept ID:
C4017493
Finding
Beta-knossos-thalassemia
MedGen UID:
865931
Concept ID:
C4017494
Finding
HEMOGLOBIN UBE-1
MedGen UID:
865932
Concept ID:
C4017495
Finding
HEMOGLOBIN SAN FRANCISCO (PACIFIC)
MedGen UID:
865933
Concept ID:
C4017496
Finding
HBB/HBD ANTI-LEPORE
MedGen UID:
865934
Concept ID:
C4017497
Finding
HEMOGLOBIN M (AKITA)
MedGen UID:
865935
Concept ID:
C4017498
Finding
HEMOGLOBIN M (ARHUS)
MedGen UID:
865936
Concept ID:
C4017499
Finding
HEMOGLOBIN M (CHICAGO)
MedGen UID:
865937
Concept ID:
C4017500
Finding
HEMOGLOBIN M (EMORY)
MedGen UID:
865938
Concept ID:
C4017501
Finding
HEMOGLOBIN M (ERLANGEN)
MedGen UID:
865939
Concept ID:
C4017502
Finding
HEMOGLOBIN M (HAMBURG)
MedGen UID:
865940
Concept ID:
C4017503
Finding
HEMOGLOBIN M (HIDA)
MedGen UID:
865941
Concept ID:
C4017504
Finding
HEMOGLOBIN M (HORLEIN-WEBER)
MedGen UID:
865942
Concept ID:
C4017505
Finding
HEMOGLOBIN M (KURUME)
MedGen UID:
865943
Concept ID:
C4017506
Finding
HEMOGLOBIN M (LEIPZIG)
MedGen UID:
865944
Concept ID:
C4017507
Finding
HEMOGLOBIN M (NOVI SAD)
MedGen UID:
865945
Concept ID:
C4017508
Finding
HEMOGLOBIN M (RADOM)
MedGen UID:
865946
Concept ID:
C4017509
Finding
Beta-malay-thalassemia
MedGen UID:
865947
Concept ID:
C4017510
Finding
HEMOGLOBIN N (JENKINS)
MedGen UID:
865948
Concept ID:
C4017511
Finding
HEMOGLOBIN JENKINS
MedGen UID:
865949
Concept ID:
C4017512
Finding
HEMOGLOBIN HOPKINS 1
MedGen UID:
865950
Concept ID:
C4017513
Finding
HEMOGLOBIN KENWOOD
MedGen UID:
865951
Concept ID:
C4017514
Finding
HEMOGLOBIN KAOHSIUNG
MedGen UID:
865952
Concept ID:
C4017515
Finding
HEMOGLOBIN NORTH SHORE-CARACAS
MedGen UID:
865953
Concept ID:
C4017516
Finding
HEMOGLOBIN EGYPT
MedGen UID:
865954
Concept ID:
C4017517
Finding
HEMOGLOBIN ABRAHAM LINCOLN
MedGen UID:
865955
Concept ID:
C4017518
Finding
HEMOGLOBIN KOBE
MedGen UID:
865956
Concept ID:
C4017519
Finding
HEMOGLOBIN KARATSU
MedGen UID:
865957
Concept ID:
C4017520
Finding
HEMOGLOBIN S/O (ARAB)
MedGen UID:
865958
Concept ID:
C4017521
Finding
Beta-showa-yakushiji thalassemia
MedGen UID:
865959
Concept ID:
C4017522
Finding
HEMOGLOBIN G (HONAN)
MedGen UID:
865960
Concept ID:
C4017523
Finding
HEMOGLOBIN DRENTHE
MedGen UID:
865961
Concept ID:
C4017524
Finding
Beta-plus-thalassemia, dominant
MedGen UID:
865962
Concept ID:
C4017525
Finding
BETA-HOUSTON-THALASSEMIA
MedGen UID:
865963
Concept ID:
C4017526
Finding
HEMOGLOBIN CAGLIARI
MedGen UID:
865964
Concept ID:
C4017527
Finding
Beta-thalassemia, lermontov type
MedGen UID:
865965
Concept ID:
C4017528
Finding

Recent clinical studies

Etiology

Kim SB, Kim KH, Kim TN, Heo J, Jung MK, Cho CM, Lee YS, Cho KB, Lee DW, Han JM, Kim HG, Kim HS
Medicine (Baltimore) 2017 Mar;96(13):e6477. doi: 10.1097/MD.0000000000006477. PMID: 28353587Free PMC Article
Joly P, Renoux C, Lacan P, Bertrand Y, Cannas G, Garnier N, Cuzzubbo D, Kebaïli K, Renard C, Gauthier A, Pialoux V, Martin C, Romana M, Connes P
Eur J Haematol 2017 Mar;98(3):296-301. Epub 2017 Jan 9 doi: 10.1111/ejh.12838. PMID: 27981643
Goodwin EF, Partain PI, Lebensburger JD, Fineberg NS, Howard TH
Pediatr Blood Cancer 2017 Jan;64(1):113-120. Epub 2016 Sep 19 doi: 10.1002/pbc.26179. PMID: 27643455
Tuna Kirsaclioglu C, Çuhacı Çakır B, Bayram G, Akbıyık F, Işık P, Tunç B
J Paediatr Child Health 2016 Oct;52(10):944-949. Epub 2016 May 28 doi: 10.1111/jpc.13235. PMID: 27236017
Mishra T, Lakshmi KK, Peddi KK
Obes Surg 2016 Oct;26(10):2411-7. doi: 10.1007/s11695-016-2113-4. PMID: 26910024

Diagnosis

Kim SB, Kim KH, Kim TN, Heo J, Jung MK, Cho CM, Lee YS, Cho KB, Lee DW, Han JM, Kim HG, Kim HS
Medicine (Baltimore) 2017 Mar;96(13):e6477. doi: 10.1097/MD.0000000000006477. PMID: 28353587Free PMC Article
Joly P, Renoux C, Lacan P, Bertrand Y, Cannas G, Garnier N, Cuzzubbo D, Kebaïli K, Renard C, Gauthier A, Pialoux V, Martin C, Romana M, Connes P
Eur J Haematol 2017 Mar;98(3):296-301. Epub 2017 Jan 9 doi: 10.1111/ejh.12838. PMID: 27981643
Tazuma S, Unno M, Igarashi Y, Inui K, Uchiyama K, Kai M, Tsuyuguchi T, Maguchi H, Mori T, Yamaguchi K, Ryozawa S, Nimura Y, Fujita N, Kubota K, Shoda J, Tabata M, Mine T, Sugano K, Watanabe M, Shimosegawa T
J Gastroenterol 2017 Mar;52(3):276-300. Epub 2016 Dec 10 doi: 10.1007/s00535-016-1289-7. PMID: 27942871
Goodwin EF, Partain PI, Lebensburger JD, Fineberg NS, Howard TH
Pediatr Blood Cancer 2017 Jan;64(1):113-120. Epub 2016 Sep 19 doi: 10.1002/pbc.26179. PMID: 27643455
Muroni M, Loi V, Lionnet F, Girot R, Houry S
Int J Surg 2015 Oct;22:62-6. Epub 2015 Aug 14 doi: 10.1016/j.ijsu.2015.07.708. PMID: 26278661

Therapy

Tazuma S, Unno M, Igarashi Y, Inui K, Uchiyama K, Kai M, Tsuyuguchi T, Maguchi H, Mori T, Yamaguchi K, Ryozawa S, Nimura Y, Fujita N, Kubota K, Shoda J, Tabata M, Mine T, Sugano K, Watanabe M, Shimosegawa T
J Gastroenterol 2017 Mar;52(3):276-300. Epub 2016 Dec 10 doi: 10.1007/s00535-016-1289-7. PMID: 27942871
Pak M, Lindseth G
Gastroenterol Nurs 2016 Jul-Aug;39(4):297-309. doi: 10.1097/SGA.0000000000000235. PMID: 27467059
Lin KY, Liao SH, Liu WC, Cheng A, Lin SW, Chang SY, Tsai MS, Kuo CH, Wu MR, Wang HP, Hung CC, Chang SC
PLoS One 2015;10(9):e0137660. Epub 2015 Sep 11 doi: 10.1371/journal.pone.0137660. PMID: 26360703Free PMC Article
Muroni M, Loi V, Lionnet F, Girot R, Houry S
Int J Surg 2015 Oct;22:62-6. Epub 2015 Aug 14 doi: 10.1016/j.ijsu.2015.07.708. PMID: 26278661
Korkmaz H, Araz M, Alkan S, Akarsu E
Aging Clin Exp Res 2015 Oct;27(5):751-3. Epub 2015 Mar 1 doi: 10.1007/s40520-015-0335-2. PMID: 25725635

Prognosis

Joly P, Renoux C, Lacan P, Bertrand Y, Cannas G, Garnier N, Cuzzubbo D, Kebaïli K, Renard C, Gauthier A, Pialoux V, Martin C, Romana M, Connes P
Eur J Haematol 2017 Mar;98(3):296-301. Epub 2017 Jan 9 doi: 10.1111/ejh.12838. PMID: 27981643
Tazuma S, Unno M, Igarashi Y, Inui K, Uchiyama K, Kai M, Tsuyuguchi T, Maguchi H, Mori T, Yamaguchi K, Ryozawa S, Nimura Y, Fujita N, Kubota K, Shoda J, Tabata M, Mine T, Sugano K, Watanabe M, Shimosegawa T
J Gastroenterol 2017 Mar;52(3):276-300. Epub 2016 Dec 10 doi: 10.1007/s00535-016-1289-7. PMID: 27942871
Goodwin EF, Partain PI, Lebensburger JD, Fineberg NS, Howard TH
Pediatr Blood Cancer 2017 Jan;64(1):113-120. Epub 2016 Sep 19 doi: 10.1002/pbc.26179. PMID: 27643455
Pak M, Lindseth G
Gastroenterol Nurs 2016 Jul-Aug;39(4):297-309. doi: 10.1097/SGA.0000000000000235. PMID: 27467059
Mishra T, Lakshmi KK, Peddi KK
Obes Surg 2016 Oct;26(10):2411-7. doi: 10.1007/s11695-016-2113-4. PMID: 26910024

Clinical prediction guides

Chaouch L, Kalai1 M, Darragi I, Boudrigua I, Chaouachi D, Ammar SB, Mellouli F, Bjaoui M, Abbes S
Hematology 2016 Mar;21(2):121-5. Epub 2015 Jul 6 doi: 10.1179/1607845415Y.0000000030. PMID: 26146896
Lin KY, Liao SH, Liu WC, Cheng A, Lin SW, Chang SY, Tsai MS, Kuo CH, Wu MR, Wang HP, Hung CC, Chang SC
PLoS One 2015;10(9):e0137660. Epub 2015 Sep 11 doi: 10.1371/journal.pone.0137660. PMID: 26360703Free PMC Article
Muroni M, Loi V, Lionnet F, Girot R, Houry S
Int J Surg 2015 Oct;22:62-6. Epub 2015 Aug 14 doi: 10.1016/j.ijsu.2015.07.708. PMID: 26278661
Yoon H, Kwon CI, Jeong S, Lee TH, Han JH, Song TJ, Hwang JC, Kim DJ
Korean J Gastroenterol 2015 Jul;66(1):33-40. doi: 10.4166/kjg.2015.66.1.33. PMID: 26194127
Celikagi C, Genc A, Bal A, Ucok K, Turamanlar O, Ozkececi ZT, Yalcinkaya H, Coban NF, Yorulmaz S
Eur J Gastroenterol Hepatol 2014 Oct;26(10):1133-8. doi: 10.1097/MEG.0000000000000159. PMID: 25014627

Recent systematic reviews

Tazuma S, Unno M, Igarashi Y, Inui K, Uchiyama K, Kai M, Tsuyuguchi T, Maguchi H, Mori T, Yamaguchi K, Ryozawa S, Nimura Y, Fujita N, Kubota K, Shoda J, Tabata M, Mine T, Sugano K, Watanabe M, Shimosegawa T
J Gastroenterol 2017 Mar;52(3):276-300. Epub 2016 Dec 10 doi: 10.1007/s00535-016-1289-7. PMID: 27942871
Khan AS, Eloubeidi MA, Khashab MA
Expert Rev Gastroenterol Hepatol 2016 Jul;10(7):861-8. Epub 2016 Feb 20 doi: 10.1586/17474124.2016.1145544. PMID: 26799755
Gong Y, Li S, Tang Y, Mai C, Ba M, Jiang P, Tang H
Cancer Causes Control 2014 Nov;25(11):1543-51. Epub 2014 Aug 22 doi: 10.1007/s10552-014-0458-3. PMID: 25146444
Gan T, Chen J, Jin SJ, Wang Y
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