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Fever

MedGen UID:
5169
Concept ID:
C0015967
Finding
Synonyms: Hyperthermia; Pyrexia
SNOMED CT: Has a temperature (50177009); Temperature raised (50177009); Increased body temperature (50177009); Fever (386661006); Pyrexial (386661006); Pyrexia (386661006); Febrile (386661006); Temperature elevated (50177009); Body temperature above reference range (50177009); High body temperature (50177009); Hyperthermia (50177009)
 
HPO: HP:0001945

Definition

A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including. - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.  [from MedlinePlus]

Conditions with this feature

Fructose-biphosphatase deficiency
MedGen UID:
42106
Concept ID:
C0016756
Disease or Syndrome
Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis (Kikawa et al., 1997; Matsuura et al., 2002).
Glycogen storage disease, type II
MedGen UID:
5340
Concept ID:
C0017921
Congenital Abnormality
Glycogen storage disease type II (GSD II), or Pompe disease, is classified by age of onset, organ involvement, severity, and rate of progression. Classic infantile-onset Pompe disease may be apparent in utero but more often presents in the first two months of life with hypotonia, generalized muscle weakness, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties, failure to thrive, respiratory distress, and hearing loss. Without treatment by enzyme replacement therapy (ERT), classic infantile-onset Pompe disease commonly results in death in the first year of life from progressive left ventricular outflow obstruction. The non-classic variant of infantile-onset Pompe disease usually presents within the first year of life with motor delays and/or slowly progressive muscle weakness, typically resulting in death from ventilatory failure in early childhood. Cardiomegaly can be seen, but heart disease is not a major source of morbidity. Late-onset (i.e., childhood, juvenile, and adult-onset) Pompe disease is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon in the late-onset form.
Infantile cortical hyperostosis
MedGen UID:
43781
Concept ID:
C0020497
Disease or Syndrome
Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset around age two months and spontaneous resolution by age two years. On rare occasion, the hyperostosis can be detected by ultrasound examination late in the third trimester of pregnancy. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, and an increased risk for bone fractures and/or deformities.
Letterer-siwe disease
MedGen UID:
7311
Concept ID:
C0023381
Neoplastic Process
A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.
Malignant hyperthermia susceptibility
MedGen UID:
9867
Concept ID:
C0024591
Disease or Syndrome
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Neuroblastoma
MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Stiff-man syndrome
MedGen UID:
39017
Concept ID:
C0085292
Disease or Syndrome
The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.
Hypohidrotic X-linked ectodermal dysplasia
MedGen UID:
57890
Concept ID:
C0162359
Congenital Abnormality
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later than average age. Physical growth and psychomotor development are otherwise within normal limits.
Fatal familial insomnia
MedGen UID:
104768
Concept ID:
C0206042
Disease or Syndrome
Genetic prion diseases generally manifest with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. Familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and fatal familial insomnia (FFI) represent the core phenotypes of genetic prion disease. Note: A fourth clinical phenotype, known as Huntington disease like-1 (HDL-1) has been proposed, but this is based on a single report, and the underlying pathologic features would categorize it as GSS. Although it is clear that these four subtypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset ranges from the third to ninth decade of life. The course ranges from a few months to several years (typically 5-7 years; in rare instances, >10 years).
Cyclical neutropenia
MedGen UID:
65121
Concept ID:
C0221023
Disease or Syndrome
ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia AML is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.
Hereditary pancreatitis
MedGen UID:
116056
Concept ID:
C0238339
Disease or Syndrome
A disorder characterized by recurrent episodes of pancreatitis that start at a young age. It is caused by mutations in the PRSS1 or SPINK1 genes. Patients are at a high risk of developing pancreatic carcinoma.
Halothane hepatitis
MedGen UID:
66842
Concept ID:
C0241913
Disease or Syndrome
Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Congenital Abnormality
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Infantile hypophosphatasia
MedGen UID:
75677
Concept ID:
C0268412
Disease or Syndrome
Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood (juvenile) hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets, and premature loss of primary teeth with intact roots. Adult hypophosphatasia characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.
Deficiency of hydroxymethylglutaryl-CoA lyase
MedGen UID:
78692
Concept ID:
C0268601
Disease or Syndrome
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, which include 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988).
Pustular psoriasis, generalized
MedGen UID:
473074
Concept ID:
C0343055
Disease or Syndrome
Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris (PV; see 177900); however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013). GPP in association with sterile multifocal osteomyelitis and periostitis (612852) is caused by mutation in the IL1RN gene (147679). Capon (2013) noted that the percentage of GPP patients reported to be negative for mutation in IL36RN ranges from 51 to 84%, indicative of genetic heterogeneity in the generalized pustular form of psoriasis. For a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).
Pseudodiastrophic dysplasia
MedGen UID:
140924
Concept ID:
C0432206
Congenital Abnormality
Pseudodiastrophic dysplasia is characterized by short-limbed short stature at birth, facial dysmorphism (hypertelorism, flat nose, prominent cheeks, micrognathia), cleft palate, and a distinctive skeletal phenotype including narrow thorax, scoliosis, rhizomelia, ulnar deviation of the wrist, proximal interphalangeal joint dislocation, dislocation of large joints, particularly of the elbows, and talipes equinovarus (summary by Yap et al., 2016).
Central core disease
MedGen UID:
199773
Concept ID:
C0751951
Disease or Syndrome
Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck muscles. The extraocular muscles are often spared. Motor development is usually delayed, but in general, most affected individuals acquire independent ambulation. Life span is usually normal. Severe disease is early in onset with profound hypotonia often accompanied by poor fetal movement, spinal deformities, hip dislocation, joint contractures, poor suck, and respiratory insufficiency requiring assisted ventilation. The outcome ranges from death in infancy to survival beyond age five years. The weakness in CCD is not typically progressive.
Aicardi Goutieres syndrome 1
MedGen UID:
162912
Concept ID:
C0796126
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
21-hydroxylase deficiency
MedGen UID:
468578
Concept ID:
C0852654
Disease or Syndrome
21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.
Upshaw-Schulman syndrome
MedGen UID:
224783
Concept ID:
C1268935
Disease or Syndrome
The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease.
Familial hemiplegic migraine type 1
MedGen UID:
331389
Concept ID:
C1832894
Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including familial hemiplegic migraine) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech); FHM must include motor involvement, i.e., hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with FHM1 have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. Cerebral infarction and death have rarely been associated with hemiplegic migraine.
Caroli disease, isolated
MedGen UID:
371590
Concept ID:
C1833541
Disease or Syndrome
Malignant hyperthermia susceptibility type 2
MedGen UID:
371986
Concept ID:
C1835161
Finding
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Hemophagocytic lymphohistiocytosis, familial, 3
MedGen UID:
332383
Concept ID:
C1837174
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
King Denborough syndrome
MedGen UID:
327082
Concept ID:
C1840365
Disease or Syndrome
Hyperthermia, cutaneous, with headaches and nausea
MedGen UID:
374453
Concept ID:
C1840373
Disease or Syndrome
Basal ganglia disease, biotin-responsive
MedGen UID:
375289
Concept ID:
C1843807
Congenital Abnormality
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which - if left untreated - can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or surgery. Less frequently, BTBGD presents as chronic or slowly progressive dystonia, seizures, and/or psychomotor delay. Although onset is usually in childhood (ages three to ten 10 years), it is extremely variable, ranging from the newborn period to adulthood. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days.
Lymphoproliferative syndrome 2, X-linked
MedGen UID:
336848
Concept ID:
C1845076
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Susceptibility to acute rheumatic fever
MedGen UID:
376575
Concept ID:
C1849384
Finding
Myoglobinuria, acute recurrent, autosomal recessive
MedGen UID:
340308
Concept ID:
C1849386
Disease or Syndrome
Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992). See 160010 for discussion of a possible autosomal dominant form of myglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.
Bartter syndrome, type 2, antenatal
MedGen UID:
343428
Concept ID:
C1855849
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Hypohidrosis with abnormal palmar dermal ridges
MedGen UID:
340989
Concept ID:
C1855856
Disease or Syndrome
Hyperphosphatemia, polyuria, and seizures
MedGen UID:
343444
Concept ID:
C1855922
Disease or Syndrome
Fever, familial lifelong persistent
MedGen UID:
346443
Concept ID:
C1856788
Disease or Syndrome
Epstein Barr virus, chronic
MedGen UID:
347329
Concept ID:
C1856901
Disease or Syndrome
Dermatoosteolysis Kirghizian type
MedGen UID:
341742
Concept ID:
C1857301
Disease or Syndrome
Familial cirrhosis
MedGen UID:
350049
Concept ID:
C1861556
Disease or Syndrome
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue.In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice).People with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).
Arteritis, familial granulomatous, with juvenile polyarthritis
MedGen UID:
349529
Concept ID:
C1862510
Disease or Syndrome
Hemophagocytic lymphohistiocytosis, familial, 4
MedGen UID:
350245
Concept ID:
C1863728
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Histiocytosis-lymphadenopathy plus syndrome
MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).
Familial hemiplegic migraine type 2
MedGen UID:
355962
Concept ID:
C1865322
Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including familial hemiplegic migraine) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech); FHM must include motor involvement, i.e., hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with FHM1 have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. Cerebral infarction and death have rarely been associated with hemiplegic migraine.
Bartter syndrome, type 1, antenatal
MedGen UID:
355727
Concept ID:
C1866495
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Sarcoidosis 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).
Atypical hemolytic-uremic syndrome 1
MedGen UID:
412743
Concept ID:
C2749604
Finding
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
Malignant hyperthermia susceptibility type 3
MedGen UID:
418956
Concept ID:
C2930982
Pathologic Function
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Neuropathy, hereditary sensory and autonomic, type VI
MedGen UID:
761278
Concept ID:
C3539003
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Periodic fever, menstrual cycle-dependent
MedGen UID:
766332
Concept ID:
C3553418
Disease or Syndrome
Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012).
Lymphoproliferative syndrome 2
MedGen UID:
767454
Concept ID:
C3554540
Disease or Syndrome
Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).
STING-associated vasculopathy with onset in infancy
MedGen UID:
863159
Concept ID:
C4014722
Disease or Syndrome

Recent clinical studies

Etiology

Nomura K, Yamanaka Y, Sekine Y, Yamamoto H, Esu Y, Hara M, Hasegawa M, Shinnabe A, Kanazawa H, Kakuta R, Ozawa D, Hidaka H, Katori Y, Yoshida N
Eur Arch Otorhinolaryngol 2017 Jan;274(1):167-173. Epub 2016 Jul 1 doi: 10.1007/s00405-016-4189-9. PMID: 27371330
Wang Z, Shen M, Qiao M, Zhang H, Tang Z
J Clin Nurs 2017 Feb;26(3-4):411-417. Epub 2016 Jul 1 doi: 10.1111/jocn.13409. PMID: 27240113
Krzyzanowska MK, Walker-Dilks C, Morris AM, Gupta R, Halligan R, Kouroukis CT, McCann K, Atzema CL
Cancer Treat Rev 2016 Dec;51:35-45. Epub 2016 Nov 1 doi: 10.1016/j.ctrv.2016.10.007. PMID: 27842279
de Kunder SL, Ter Laak-Poort MP, Nicolai J, Vles JS, Cornips EM
Childs Nerv Syst 2016 Jun;32(6):1049-55. Epub 2016 Apr 14 doi: 10.1007/s00381-016-3085-3. PMID: 27080093Free PMC Article
Demirkaya E, Saglam C, Turker T, Koné-Paut I, Woo P, Doglio M, Amaryan G, Frenkel J, Uziel Y, Insalaco A, Cantarini L, Hofer M, Boiu S, Duzova A, Modesto C, Bryant A, Rigante D, Papadopoulou-Alataki E, Guillaume-Czitrom S, Kuemmerle-Deschner J, Neven B, Lachmann H, Martini A, Ruperto N, Gattorno M, Ozen S; Paediatric Rheumatology International Trials Organisations (PRINTO).; Eurofever Project.
J Rheumatol 2016 Jan;43(1):154-60. Epub 2015 Nov 15 doi: 10.3899/jrheum.141249. PMID: 26568587

Diagnosis

Wang Z, Shen M, Qiao M, Zhang H, Tang Z
J Clin Nurs 2017 Feb;26(3-4):411-417. Epub 2016 Jul 1 doi: 10.1111/jocn.13409. PMID: 27240113
Krzyzanowska MK, Walker-Dilks C, Morris AM, Gupta R, Halligan R, Kouroukis CT, McCann K, Atzema CL
Cancer Treat Rev 2016 Dec;51:35-45. Epub 2016 Nov 1 doi: 10.1016/j.ctrv.2016.10.007. PMID: 27842279
Gudo ES, Pinto G, Weyer J, le Roux C, Mandlaze A, José AF, Muianga A, Paweska JT
Virol J 2016 Jun 8;13:96. doi: 10.1186/s12985-016-0542-2. PMID: 27278404Free PMC Article
de Kunder SL, Ter Laak-Poort MP, Nicolai J, Vles JS, Cornips EM
Childs Nerv Syst 2016 Jun;32(6):1049-55. Epub 2016 Apr 14 doi: 10.1007/s00381-016-3085-3. PMID: 27080093Free PMC Article
Demirkaya E, Saglam C, Turker T, Koné-Paut I, Woo P, Doglio M, Amaryan G, Frenkel J, Uziel Y, Insalaco A, Cantarini L, Hofer M, Boiu S, Duzova A, Modesto C, Bryant A, Rigante D, Papadopoulou-Alataki E, Guillaume-Czitrom S, Kuemmerle-Deschner J, Neven B, Lachmann H, Martini A, Ruperto N, Gattorno M, Ozen S; Paediatric Rheumatology International Trials Organisations (PRINTO).; Eurofever Project.
J Rheumatol 2016 Jan;43(1):154-60. Epub 2015 Nov 15 doi: 10.3899/jrheum.141249. PMID: 26568587

Therapy

Nomura K, Yamanaka Y, Sekine Y, Yamamoto H, Esu Y, Hara M, Hasegawa M, Shinnabe A, Kanazawa H, Kakuta R, Ozawa D, Hidaka H, Katori Y, Yoshida N
Eur Arch Otorhinolaryngol 2017 Jan;274(1):167-173. Epub 2016 Jul 1 doi: 10.1007/s00405-016-4189-9. PMID: 27371330
Wang Z, Shen M, Qiao M, Zhang H, Tang Z
J Clin Nurs 2017 Feb;26(3-4):411-417. Epub 2016 Jul 1 doi: 10.1111/jocn.13409. PMID: 27240113
Krzyzanowska MK, Walker-Dilks C, Morris AM, Gupta R, Halligan R, Kouroukis CT, McCann K, Atzema CL
Cancer Treat Rev 2016 Dec;51:35-45. Epub 2016 Nov 1 doi: 10.1016/j.ctrv.2016.10.007. PMID: 27842279
de Kunder SL, Ter Laak-Poort MP, Nicolai J, Vles JS, Cornips EM
Childs Nerv Syst 2016 Jun;32(6):1049-55. Epub 2016 Apr 14 doi: 10.1007/s00381-016-3085-3. PMID: 27080093Free PMC Article
Martins M, Abecasis F
Acta Paediatr 2016 Jul;105(7):829-33. Epub 2016 Apr 20 doi: 10.1111/apa.13406. PMID: 26998922

Prognosis

Nomura K, Yamanaka Y, Sekine Y, Yamamoto H, Esu Y, Hara M, Hasegawa M, Shinnabe A, Kanazawa H, Kakuta R, Ozawa D, Hidaka H, Katori Y, Yoshida N
Eur Arch Otorhinolaryngol 2017 Jan;274(1):167-173. Epub 2016 Jul 1 doi: 10.1007/s00405-016-4189-9. PMID: 27371330
Wang Z, Shen M, Qiao M, Zhang H, Tang Z
J Clin Nurs 2017 Feb;26(3-4):411-417. Epub 2016 Jul 1 doi: 10.1111/jocn.13409. PMID: 27240113
Krzyzanowska MK, Walker-Dilks C, Morris AM, Gupta R, Halligan R, Kouroukis CT, McCann K, Atzema CL
Cancer Treat Rev 2016 Dec;51:35-45. Epub 2016 Nov 1 doi: 10.1016/j.ctrv.2016.10.007. PMID: 27842279
de Kunder SL, Ter Laak-Poort MP, Nicolai J, Vles JS, Cornips EM
Childs Nerv Syst 2016 Jun;32(6):1049-55. Epub 2016 Apr 14 doi: 10.1007/s00381-016-3085-3. PMID: 27080093Free PMC Article
Cai K, Xu T, Shen L, Ni Y, Ji Q
World Neurosurg 2016 Apr;88:49-53. Epub 2016 Jan 22 doi: 10.1016/j.wneu.2016.01.032. PMID: 26805690

Clinical prediction guides

Nomura K, Yamanaka Y, Sekine Y, Yamamoto H, Esu Y, Hara M, Hasegawa M, Shinnabe A, Kanazawa H, Kakuta R, Ozawa D, Hidaka H, Katori Y, Yoshida N
Eur Arch Otorhinolaryngol 2017 Jan;274(1):167-173. Epub 2016 Jul 1 doi: 10.1007/s00405-016-4189-9. PMID: 27371330
Wang Z, Shen M, Qiao M, Zhang H, Tang Z
J Clin Nurs 2017 Feb;26(3-4):411-417. Epub 2016 Jul 1 doi: 10.1111/jocn.13409. PMID: 27240113
Krzyzanowska MK, Walker-Dilks C, Morris AM, Gupta R, Halligan R, Kouroukis CT, McCann K, Atzema CL
Cancer Treat Rev 2016 Dec;51:35-45. Epub 2016 Nov 1 doi: 10.1016/j.ctrv.2016.10.007. PMID: 27842279
Gudo ES, Pinto G, Weyer J, le Roux C, Mandlaze A, José AF, Muianga A, Paweska JT
Virol J 2016 Jun 8;13:96. doi: 10.1186/s12985-016-0542-2. PMID: 27278404Free PMC Article
de Kunder SL, Ter Laak-Poort MP, Nicolai J, Vles JS, Cornips EM
Childs Nerv Syst 2016 Jun;32(6):1049-55. Epub 2016 Apr 14 doi: 10.1007/s00381-016-3085-3. PMID: 27080093Free PMC Article

Recent systematic reviews

Krzyzanowska MK, Walker-Dilks C, Morris AM, Gupta R, Halligan R, Kouroukis CT, McCann K, Atzema CL
Cancer Treat Rev 2016 Dec;51:35-45. Epub 2016 Nov 1 doi: 10.1016/j.ctrv.2016.10.007. PMID: 27842279
Purssell E, Collin J
Int J Nurs Stud 2016 Apr;56:81-9. Epub 2015 Nov 17 doi: 10.1016/j.ijnurstu.2015.11.001. PMID: 26643444
Li-Kim-Moy J, Yin JK, Rashid H, Khandaker G, King C, Wood N, Macartney KK, Jones C, Booy R
Euro Surveill 2015 Jun 18;20(24) PMID: 26111238
Zhen C, Xia Z, Ya Jun Z, Long L, Jian S, Gui Ju C, Long L
Clin Pediatr (Phila) 2015 Feb;54(2):114-26. Epub 2014 Aug 6 doi: 10.1177/0009922814545492. PMID: 25104731
Drury P, Levi C, D'Este C, McElduff P, McInnes E, Hardy J, Dale S, Cheung NW, Grimshaw JM, Quinn C, Ward J, Evans M, Cadilhac D, Griffiths R, Middleton S
Int J Stroke 2014 Aug;9(6):766-76. Epub 2013 Dec 1 doi: 10.1111/ijs.12202. PMID: 24289456

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