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Abnormality of temperature regulation

MedGen UID:
425258
Concept ID:
CN003869
Finding
Synonyms: Body temperature changes; Poor temperature regulation
 
HPO: HP:0004370

Definition

An abnormality of `temperature homeostasis` (GO:0001659). [from HPO]

Conditions with this feature

Fabry's disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease results from deficient activity of the enzyme a-galactosidase (a-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesias), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhydrosis, hypohydosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% a-Gal A activity may have either (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, mitral insufficiency and/or cardiomyopathy, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain.
Aortic Arch Syndromes
MedGen UID:
1616
Concept ID:
C0003490
Disease or Syndrome
Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots.
Allergic bronchopulmonary aspergillosis
MedGen UID:
428
Concept ID:
C0004031
Disease or Syndrome
Hypersensitivity reaction (ALLERGIC REACTION) to fungus ASPERGILLUS in an individual with long-standing BRONCHIAL ASTHMA. It is characterized by pulmonary infiltrates, EOSINOPHILIA, elevated serum IMMUNOGLOBULIN E, and skin reactivity to Aspergillus antigen.
Behcet's syndrome
MedGen UID:
2568
Concept ID:
C0004943
Disease or Syndrome
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes. Painful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores occur on the lips and tongue and inside the cheeks. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women. Behçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the face, neck, and arms. An inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness. Less commonly, Behçet disease can affect the joints, gastrointestinal tract, large blood vessels, and brain and spinal cord (central nervous system). Central nervous system abnormalities are among the most serious complications of Behçet disease. Related symptoms can include headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. The signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting many parts of the body, including the central nervous system. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.
beta Thalassemia
MedGen UID:
2611
Concept ID:
C0005283
Disease or Syndrome
Beta-thalassemia (ß-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that only rarely requires transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis.
Chédiak-Higashi syndrome
MedGen UID:
3347
Concept ID:
C0007965
Disease or Syndrome
Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, a lymphoproliferative infiltration of the bone marrow and reticuloendothelial system. Adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.
Dubin-Johnson syndrome
MedGen UID:
7181
Concept ID:
C0022350
Disease or Syndrome
Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998).
Hyperimmunoglobulin E syndrome
MedGen UID:
43995
Concept ID:
C0022398
Disease or Syndrome
Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immune deficiency characterized by the classic triad of recurrent skin boils, cyst-forming pneumonias, and extreme elevations of serum IgE. It is now recognized that other common manifestations include eczema, mucocutaneous candidiasis, and several connective tissue and skeletal abnormalities. A rash in the newborn period subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatocoeles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. A characteristic facial appearance typically emerges in adolescence. Skeletal abnormalities include osteopenia, minimal trauma fractures, and scoliosis. Vascular abnormalities include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease; esophageal dysmotility; and rarely colonic perforations, some of which are associated with diverticuli. Fungal infection of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, but life span is often shortened. Most deaths are associated with Gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.
Melkersson-Rosenthal syndrome
MedGen UID:
6291
Concept ID:
C0025235
Disease or Syndrome
An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)
Acute febrile mucocutaneous lymph node syndrome
MedGen UID:
10118
Concept ID:
C0026691
Disease or Syndrome
Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy (Kawasaki, 1967). Coronary artery aneurysms develop in 15 to 25% of those left untreated (Kato et al., 1975, 1996), making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Treatment with intravenous immunoglobulin (IVIG) abrogates the inflammation in approximately 80% of affected individuals and reduces the aneurysm rate to less than 5%. Cardiac sequelae of the aneurysms include ischemic heart disease, myocardial infarction, and sudden death. Epidemiologic features such as seasonality and clustering of cases suggested an infectious trigger, although no pathogen had been isolated. Several lines of evidence suggested the importance of genetic factors in disease susceptibility and outcome. First, the incidence of Kawasaki disease is 10 to 20 times higher in Japan than in Western countries (Cook et al., 1989). Second, the risk of Kawasaki disease in sibs of affected children is 10 times higher than in the general population, and the incidence of Kawasaki disease in children born to parents with a history of Kawasaki disease is twice as high as that in the general population (Fujita et al., 1989; Uehara et al., 2003). Hata and Onouchi (2009) reviewed current knowledge on Kawasaki disease, including epidemiology, genomewide linkage analysis, and molecular genetics.
Classic Kaposi sarcoma
MedGen UID:
11321
Concept ID:
C0036220
Neoplastic Process
Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000). Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).
Takayasu arteritis
MedGen UID:
21458
Concept ID:
C0039263
Disease or Syndrome
A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy.
Giant cell arteritis
MedGen UID:
21478
Concept ID:
C0039483
Disease or Syndrome
Giant cell arteritis is a disorder that causes inflammation of arteries of the scalp, neck, and arms. The inflammation narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both disorders are more common in women than in men. They almost always affect people over the age of 50. Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include headaches, pain and tenderness over the temples, double vision or visual loss, dizziness, and problems with coordination and balance. You may also have pain in your jaw and tongue. Your doctor will make the diagnosis based on your medical history, symptoms, and physical examination. There is no single test to diagnose giant cell arteritis, but you may have tests that measure inflammation. Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Wegener's granulomatosis
MedGen UID:
12144
Concept ID:
C0043092
Disease or Syndrome
Wegener granulomatosis (WG) is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), that is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active WG express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).
Lysosomal acid lipase deficiency
MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).
Acute febrile neutrophilic dermatosis
MedGen UID:
43097
Concept ID:
C0085077
Disease or Syndrome
A rare syndrome characterized by fever, skin papules and plaques, and leukocytosis. Morphologically, the skin lesions show neutrophilic infiltrates and dermal edema. It may occur in the absence of underlying conditions. It may also be associated with the presence of cancer or may be a side effect of medications.
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000).
Rotor syndrome
MedGen UID:
67435
Concept ID:
C0220991
Disease or Syndrome
Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia which usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation.
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.
Familial amyloid nephropathy with urticaria AND deafness
MedGen UID:
120634
Concept ID:
C0268390
Disease or Syndrome
Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features.
Reticular dysgenesis
MedGen UID:
124417
Concept ID:
C0272167
Disease or Syndrome
A rare severe combined immunodeficiency disorder characterized by congenital agranulocytosis, lymphoid tissue and thymic tissue hypoplasia, and lymphopenia. Both cellular and humoral immunities are absent.
Hyperimmunoglobulin D with periodic fever
MedGen UID:
140768
Concept ID:
C0398691
Disease or Syndrome
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.
Goodpasture syndrome
MedGen UID:
140788
Concept ID:
C0403529
Disease or Syndrome
An autoimmune disorder characterized by the production of autoantibodies against type IV collagen of the glomerular basement membrane of the kidney. In the majority of patients the immune reaction also extends to the alveolar capillary membrane of the lungs. The latter cases are referred to as Goodpasture Syndrome.
Chronic infantile neurological, cutaneous and articular syndrome
MedGen UID:
98370
Concept ID:
C0409818
Disease or Syndrome
Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002). See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype.
Chronic multifocal osteomyelitis
MedGen UID:
140822
Concept ID:
C0410422
Disease or Syndrome
Membranous obstruction of inferior vena cava
MedGen UID:
107472
Concept ID:
C0546323
Pathologic Function
Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
199687
Concept ID:
C0751587
Disease or Syndrome
A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
Lymphangiomyomatosis
MedGen UID:
148366
Concept ID:
C0751674
Neoplastic Process
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. LAM is found almost exclusively in women. It usually occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM. Signs and symptoms of LAM most often appear during a woman's thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax). The lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation. Women with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas.
Budd-Chiari syndrome
MedGen UID:
163632
Concept ID:
C0856761
Disease or Syndrome
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
266127
Concept ID:
C1272305
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by a history of migraine with aura (30%-40% of individuals), mid-adult (30s-60s) onset of cerebrovascular disease, mood disturbance, apathy, cognitive disturbance progressing to dementia, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Congenital central hypoventilation
MedGen UID:
220902
Concept ID:
C1275808
Disease or Syndrome
A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities.
AUTONOMIC CONTROL, CONGENITAL FAILURE OF
MedGen UID:
329118
Concept ID:
C1736133
Congenital Abnormality
Histiocytic medullary reticulosis
MedGen UID:
321464
Concept ID:
C1801959
Neoplastic Process
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO (finding)
MedGen UID:
325261
Concept ID:
C1837818
Finding
Susceptibility to severe cutaneous adverse reaction
MedGen UID:
326760
Concept ID:
C1840548
Finding
Susceptibility to acute rheumatic fever
MedGen UID:
376575
Concept ID:
C1849384
Finding
Nakajo syndrome
MedGen UID:
376827
Concept ID:
C1850568
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
Cryoglobulinemia, familial mixed
MedGen UID:
343814
Concept ID:
C1852456
Disease or Syndrome
Dermatoosteolysis Kirghizian type
MedGen UID:
341742
Concept ID:
C1857301
Disease or Syndrome
Dengue fever, protection against
MedGen UID:
347643
Concept ID:
C1858186
Disease or Syndrome
Pyogenic arthritis, pyoderma gangrenosum and acne
MedGen UID:
346801
Concept ID:
C1858361
Disease or Syndrome
Rheumatoid arthritis, systemic juvenile
MedGen UID:
346934
Concept ID:
C1858558
Disease or Syndrome
Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have described seven types of juvenile idiopathic arthritis. The types are distinguished by their signs and symptoms, the number of joints affected, the results of laboratory tests, and the family history. Systemic juvenile idiopathic arthritis causes inflammation in one or more joints. A high daily fever that lasts at least 2 weeks either precedes or accompanies the arthritis. Individuals with systemic arthritis may also have a skin rash or enlargement of the lymph nodes, liver, or spleen. Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) has no features other than joint inflammation. Oligoarthritis is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of disease. It is divided into two subtypes depending on the course of disease after the first 6 months. If the arthritis is confined to four or fewer joints after the first 6 months, then the condition is classified as persistent oligoarthritis. If more than four joints are affected after 6 months, this condition is classified as extended oligoarthritis. Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive) causes inflammation in five or more joints within the first 6 months of the disease. Individuals with this condition also have a positive blood test for proteins called rheumatoid factors. This type of arthritis closely resembles rheumatoid arthritis as seen in adults. Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative) is also characterized by arthritis in five or more joints within the first 6 months of the disease. Individuals with this type, however, test negative for rheumatoid factor in the blood. Psoriatic juvenile idiopathic arthritis involves arthritis that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a condition characterized by patches of red, irritated skin that are often covered by flaky white scales. Other features of psoriatic arthritis include abnormalities of the fingers and nails. Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness where the bone meets a tendon, ligament or other connective tissue. This tenderness, known as enthesitis, accompanies the joint inflammation of arthritis. Enthesitis-related arthritis may also involve inflammation in parts of the body other than the joints. The last type of juvenile idiopathic arthritis is called undifferentiated arthritis. This classification is given to affected individuals who do not fit into any of the above types or who fulfill the criteria for more than one type of juvenile idiopathic arthritis.
Congenital central hypoventilation
MedGen UID:
347052
Concept ID:
C1859049
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults. Classic CCHS presents in newborns as: Apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; Autonomic nervous system dysregulation (ANSD); and In some individuals, altered development of neural crest-derived structures (i.e., Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Individuals with CCHS who have been diagnosed as newborns and ventilated conservatively and consistently throughout childhood have now reached the age of 20 to 30 years; they are highly functional and live independently. LO-CCHS manifests as nocturnal alveolar hypoventilation and mild ANSD. Individuals with LO-CCHS who were not identified until age 20 years or older have now reached the age of 30 to 55 years.
Haddad syndrome
MedGen UID:
347185
Concept ID:
C1859587
Disease or Syndrome
Blau syndrome
MedGen UID:
348835
Concept ID:
C1861303
Disease or Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.
Histiocytosis with joint contractures and sensorineural deafness
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).
Majeed syndrome
MedGen UID:
351273
Concept ID:
C1864997
Disease or Syndrome
Majeed syndrome is characterized by: Chronic recurrent multifocal osteomyelitis (CRMO) that is of early onset with a lifelong course; and Congenital dyserythropoietic anemia (CDA) that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion dependent. Some individuals also develop a transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).
Griscelli syndrome type 2
MedGen UID:
357030
Concept ID:
C1868679
Disease or Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.
ONDINE-HIRSCHSPRUNG DISEASE
MedGen UID:
406283
Concept ID:
C1876168
Disease or Syndrome
Temporal arteritis
MedGen UID:
365495
Concept ID:
C1956391
Disease or Syndrome
An autoimmune, systemic, giant cell granulomatous arteritis predominantly involving the arteries that supply blood to the central nervous system, head and eyes. Superficial arteries of the scalp that are involved tend to be enlarged and tender. Signs and symptoms include headaches, myalgias, visual disturbances, and skin necrosis.
Fabry disease, cardiac variant
MedGen UID:
372644
Concept ID:
C1970820
Disease or Syndrome
STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO (finding)
MedGen UID:
392859
Concept ID:
C2608081
Finding
Myd88 deficiency
MedGen UID:
383023
Concept ID:
C2677092
Disease or Syndrome
Follicular lymphoma 1
MedGen UID:
442784
Concept ID:
C2751665
Finding
Follicular non-Hodgkin lymphoma is an indolent B-cell malignancy with an annual incidence exceeding 10,000 cases in the United States (Bohen et al., 2003). One form of susceptibility to follicular lymphoma (FL1) is associated with a region on chromosome 6p21.33.
Reticuloendotheliosis, familial, with eosinophilia
MedGen UID:
419189
Concept ID:
C2931884
Disease or Syndrome
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
MedGen UID:
445391
Concept ID:
C2936739
Disease or Syndrome
Infantile polyarteritis
MedGen UID:
423641
Concept ID:
C2936917
Disease or Syndrome
HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO
MedGen UID:
478916
Concept ID:
C3277286
Finding
ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL
MedGen UID:
479932
Concept ID:
C3278302
Disease or Syndrome
CANDLE syndrome
MedGen UID:
480190
Concept ID:
C3278560
Disease or Syndrome
Lymphedema, primary, with myelodysplasia
MedGen UID:
481294
Concept ID:
C3279664
Disease or Syndrome
Dengue virus, susceptibility to
MedGen UID:
482212
Concept ID:
C3280582
Finding
Dengue virus is a flavivirus belonging to the family Flaviviridae. Its principal vector is Aedes aegypti, a highly urbanized, daytime-biting mosquito that breeds in stored water. There are 4 antigenetically variant serotypes of dengue virus, DEN-1 to DEN-4, and type-specific immunity against one serotype cannot block infection with another serotype. Disease manifestations following dengue infection range from subclinical infection to severe and fatal disease, with age, gender, genotype, immunologic status, and flavivirus infection history of the host all influencing disease severity. Primary infection is mainly associated with dengue fever (DF). Symptoms of DF typically appear 4 to 7 days after the mosquito bite and include high fever, headache, retroocular pain, conjunctival changes, and facial flushing. Although primary dengue infections are mostly recovered, a secondary infection with a different serotype of the virus leads to the complex condition of dengue hemorrhagic fever (DHF) with plasma leakage and thrombocytopenia or a more fatal condition, dengue shock syndrome (DSS). High fever, hemorrhagic phenomenon, hepatomegaly, and circulatory failure are mainly associated with DHF. Hemorrhages in DHF are seen in skin, subcutaneous tissues, heart, liver, and gastrointestinal tract. An estimated 50 to 100 million illnesses due to dengue infection occur annually, including 250,000 to 500,000 cases of DHF and 24,000 deaths. About 2.5 billion people are estimated to be at risk, particularly those living in tropical and subtropical areas of Asia and Latin America (reviews by Faheem et al. (2011), Whitehorn and Simmons (2011), and Guzman et al. (2010)).
DENGUE FEVER, SUSCEPTIBILITY TO
MedGen UID:
482213
Concept ID:
C3280583
Finding
DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO
MedGen UID:
482214
Concept ID:
C3280584
Finding
DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO
MedGen UID:
482215
Concept ID:
C3280585
Finding
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
MedGen UID:
483748
Concept ID:
C3489795
Disease or Syndrome
KAPOSI SARCOMA, SUSCEPTIBILITY TO
MedGen UID:
761233
Concept ID:
C3538945
Finding
MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO
MedGen UID:
762089
Concept ID:
C3541461
Finding

Recent clinical studies

Etiology

Subramanian VS, Mohammed ZM, Molina A, Marchant JS, Vaziri ND, Said HM
J Physiol 2007 Jul 1;582(Pt 1):73-85. Epub 2007 Apr 26 doi: 10.1113/jphysiol.2007.128843. [Epub ahead of print] PMID: 17463047Free PMC Article
Lee MA, Meltzer HY
Biol Psychiatry 2001 Nov 15;50(10):758-66. PMID: 11720694
Matsumoto T, Miyawaki C, Ue H, Kanda T, Yoshitake Y, Moritani T
Obes Res 2001 Feb;9(2):78-85. doi: 10.1038/oby.2001.10. PMID: 11316350
Griepp EB, Griepp RB
J Card Surg 1992 Jun;7(2):134-55. PMID: 1606366
Cooke ED, Glick EN, Bowcock SA, Smith RE, Ward C, Almond NE, Beacham JA
Br J Rheumatol 1989 Oct;28(5):399-403. PMID: 2790399

Diagnosis

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B
Am J Med Genet A 2011 Aug;155A(8):1884-96. Epub 2011 Jul 8 doi: 10.1002/ajmg.a.34090. [Epub ahead of print] PMID: 21744488
Lee MA, Meltzer HY
Biol Psychiatry 2001 Nov 15;50(10):758-66. PMID: 11720694
Liu R, Zhu J, Jospe N, Furlanetto RW, Bastian W, Livingston JN
J Biol Chem 1995 Jan 6;270(1):476-82. PMID: 7814414
Griepp EB, Griepp RB
J Card Surg 1992 Jun;7(2):134-55. PMID: 1606366
Souêtre E, Salvati E, Belugou JL, Pringuey D, Candito M, Krebs B, Ardisson JL, Darcourt G
Psychiatry Res 1989 Jun;28(3):263-78. PMID: 2762432

Therapy

Lee MA, Meltzer HY
Biol Psychiatry 2001 Nov 15;50(10):758-66. PMID: 11720694
Benoit O, Aguirre A
Neurophysiol Clin 1996;26(1):40-50. doi: 10.1016/0987-7053(96)81533-4. PMID: 8657097
Griepp EB, Griepp RB
J Card Surg 1992 Jun;7(2):134-55. PMID: 1606366
Souêtre E, Salvati E, Belugou JL, Pringuey D, Candito M, Krebs B, Ardisson JL, Darcourt G
Psychiatry Res 1989 Jun;28(3):263-78. PMID: 2762432
Zorgniotti AW, Sealfon AI
Urology 1984 May;23(5):439-41. PMID: 6372197

Prognosis

Karl TR, Hall S, Ford G, Kelly EA, Brizard CP, Mee RB, Weintraub RG, Cochrane AD, Glidden D
J Thorac Cardiovasc Surg 2004 Jan;127(1):213-22. doi: 10.1016/j.jtcvs.2003.06.001. PMID: 14752433
Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, Hahn JS
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Lesch KP, Lerer B
J Neural Transm Gen Sect 1991;84(1-2):3-18. PMID: 1647169
Grino PB, Isidro-Gutierrez RF, Griffin JE, Wilson JD
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Faden AI, Chan P, Mendoza E
Arch Neurol 1982 Mar;39(3):172-5. PMID: 7065936

Clinical prediction guides

Zou J, Wang YD, Ma FX, Xiang ML, Shi B, Wei YQ, Yang SY
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Low VA, Sandroni P, Fealey RD, Low PA
Muscle Nerve 2006 Jul;34(1):57-61. doi: 10.1002/mus.20551. PMID: 16718689
Karl TR, Hall S, Ford G, Kelly EA, Brizard CP, Mee RB, Weintraub RG, Cochrane AD, Glidden D
J Thorac Cardiovasc Surg 2004 Jan;127(1):213-22. doi: 10.1016/j.jtcvs.2003.06.001. PMID: 14752433
Souêtre E, Salvati E, Belugou JL, Pringuey D, Candito M, Krebs B, Ardisson JL, Darcourt G
Psychiatry Res 1989 Jun;28(3):263-78. PMID: 2762432
Clarke BF, Ewing DJ, Campbell IW
Diabetologia 1979 Oct;17(4):195-212. PMID: 387501

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