Behçet disease
General Information (adopted from Orphanet):
Synonyms, Signs: |
BEHCET DISEASE BD |
Number of Symptoms | 91 |
OrphanetNr: | 117 |
OMIM Id: |
109650
|
ICD-10: |
M35.2 |
UMLs: |
C0004943 |
MeSH: |
D001528 |
MedDRA: |
10004213 |
Snomed: |
310701003 |
Prevalence, inheritance and age of onset:
Prevalence: | 4 of 100 000 [Orphanet] |
Inheritance: |
Multifactorial [Orphanet] |
Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Autoinflammatory syndrome with skin involvement
-Rare skin disease Inflammatory and autoimmune disease with epilepsy -Rare neurologic disease Predominantly large-vessel vasculitis -Rare circulatory system disease -Rare systemic or rheumatologic disease Secondary glomerular disease -Rare renal disease Systemic diseases with anterior uveitis -Rare eye disease Systemic diseases with panuveitis -Rare eye disease Systemic diseases with posterior uveitis -Rare eye disease Unclassified autoinflammatory syndrome -Rare systemic or rheumatologic disease |
Symptom Information:
|
(HPO:0000031) | Epididymitis | 4 / 7739 | ||||
|
(HPO:0003249) | Genital ulcers | 2 / 7739 | ||||
|
(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
|
(HPO:0100820) | Glomerulopathy | Occasional [Orphanet] | 46 / 7739 | |||
|
(HPO:0100796) | Orchitis | Very frequent [Orphanet] | 7 / 7739 | |||
|
(HPO:0011830) | Abnormality of oral mucosa | Very frequent [Orphanet] | 47 / 7739 | |||
|
(HPO:0000155) | Oral ulcer | 9 / 7739 | ||||
|
(HPO:0001097) | Keratoconjunctivitis sicca | Occasional [Orphanet] | 25 / 7739 | |||
|
(HPO:0100654) | Retrobulbar optic neuritis | Occasional [Orphanet] | 5 / 7739 | |||
|
(HPO:0000488) | Retinopathy | Occasional [Orphanet] | 75 / 7739 | |||
|
(HPO:0001094) | Iridocyclitis | 3 / 7739 | ||||
|
(HPO:0001101) | Iritis | 3 / 7739 | ||||
|
(HPO:0000554) | Uveitis | 10 / 7739 | ||||
|
(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
|
(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
|
(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 158 / 7739 | |||
|
(HPO:0012424) | Chorioretinitis | 1 / 7739 | ||||
|
(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
|
(HPO:0000763) | Sensory neuropathy | Occasional [Orphanet] | 78 / 7739 | |||
|
(HPO:0000737) | Irritability | 93 / 7739 | ||||
|
(HPO:0002141) | Gait imbalance | Occasional [Orphanet] | 55 / 7739 | |||
|
(HPO:0002516) | Increased intracranial pressure | Occasional [Orphanet] | 47 / 7739 | |||
|
(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
|
(HPO:0007256) | Abnormal pyramidal signs | Occasional [Orphanet] | 116 / 7739 | |||
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
(HPO:0004372) | Reduced consciousness/confusion | Frequent [Orphanet] | 73 / 7739 | |||
|
(HPO:0006824) | Cranial nerve paralysis | Occasional [Orphanet] | 81 / 7739 | |||
|
(HPO:0002315) | Headache | Very frequent [Orphanet] | 175 / 7739 | |||
|
(HPO:0001347) | Hyperreflexia | Occasional [Orphanet] | 363 / 7739 | |||
|
(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
|
(HPO:0001287) | Meningitis | Very frequent [Orphanet] | 46 / 7739 | |||
|
(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
|
(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
|
(HPO:0002354) | Memory impairment | Occasional [Orphanet] | 63 / 7739 | |||
|
(HPO:0100543) | Cognitive impairment | Occasional [Orphanet] | 230 / 7739 | |||
|
(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
|
(HPO:0100769) | Synovitis | Very frequent [Orphanet] | 86 / 7739 | |||
|
(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
|
(HPO:0010885) | Aseptic necrosis | Occasional [Orphanet] | 24 / 7739 | |||
|
(HPO:0001369) | Arthritis | 44 / 7739 | ||||
|
(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
|
(HPO:0002039) | Anorexia | Occasional [Orphanet] | 62 / 7739 | |||
|
(HPO:0002242) | Abnormality of the intestine | Occasional [Orphanet] | 42 / 7739 | |||
|
(HPO:0002239) | Gastrointestinal hemorrhage | Frequent [Orphanet] | 97 / 7739 | |||
|
(HPO:0002024) | Malabsorption | Occasional [Orphanet] | 142 / 7739 | |||
|
(HPO:0001733) | Pancreatitis | Occasional [Orphanet] | 46 / 7739 | |||
|
(HPO:0002027) | Abdominal pain | Frequent [Orphanet] | 184 / 7739 | |||
|
(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
|
(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
|
(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
|
(HPO:0001063) | Acrocyanosis | 56 / 7739 | ||||
|
(HPO:0001061) | Acne | Frequent [Orphanet] | 33 / 7739 | |||
|
(HPO:0010783) | Erythema | 138 / 7739 | ||||
|
(HPO:0200037) | Skin vesicle | Frequent [Orphanet] | 102 / 7739 | |||
|
(HPO:0002229) | Alopecia areata | 5 / 7739 | ||||
|
(HPO:0001633) | Abnormality of the mitral valve | Occasional [Orphanet] | 69 / 7739 | |||
|
(HPO:0001646) | Abnormality of the aortic valve | Occasional [Orphanet] | 55 / 7739 | |||
|
(HPO:0001677) | Coronary artery disease | Occasional [Orphanet] | 58 / 7739 | |||
|
(HPO:0001637) | Abnormality of the myocardium | Occasional [Orphanet] | 76 / 7739 | |||
|
(HPO:0012089) | Arteritis | Very frequent [Orphanet] | 40 / 7739 | |||
|
(HPO:0001697) | Abnormality of the pericardium | Occasional [Orphanet] | 52 / 7739 | |||
|
(HPO:0004306) | Abnormality of the endocardium | Occasional [Orphanet] | 24 / 7739 | |||
|
(HPO:0002140) | Ischemic stroke | Occasional [Orphanet] | 70 / 7739 | |||
|
(HPO:0002638) | Superficial thrombophlebitis | 6 / 7739 | ||||
|
(HPO:0004936) | Venous thrombosis | Frequent [Orphanet] | 41 / 7739 | |||
|
(HPO:0004420) | Arterial thrombosis | Occasional [Orphanet] | 20 / 7739 | |||
|
(HPO:0011227) | Elevated C-reactive protein level | Frequent [Orphanet] | 55 / 7739 | |||
|
(HPO:0100758) | Gangrene | Occasional [Orphanet] | 25 / 7739 | |||
|
(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
|
(HPO:0002113) | Pulmonary infiltrates | Occasional [Orphanet] | 36 / 7739 | |||
|
(HPO:0002105) | Hemoptysis | Occasional [Orphanet] | 30 / 7739 | |||
|
(HPO:0002204) | Pulmonary embolism | Occasional [Orphanet] | 26 / 7739 | |||
|
(HPO:0002103) | Abnormality of the pleura | Occasional [Orphanet] | 58 / 7739 | |||
|
(HPO:0100326) | Immunologic hypersensitivity | Frequent [Orphanet] | 28 / 7739 | |||
|
(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
|
(HPO:0003326) | Myalgia | Very frequent [Orphanet] | 143 / 7739 | |||
|
(HPO:0100614) | Myositis | Occasional [Orphanet] | 21 / 7739 | |||
|
(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
|
(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
|
(OMIM) | Pustular skin lesions | 1 / 7739 | ||||
|
(OMIM) | Choreoretinitis | 1 / 7739 | ||||
|
(OMIM) | Hyperirritability | 2 / 7739 | ||||
|
(MedDRA:10039621) | Schizoaffective disorder | 1 / 7739 | ||||
|
(OMIM) | Meningoencephalomyelitic syndrome | 1 / 7739 | ||||
|
(MedDRA:10018180) | Genital ulceration | 1 / 7739 | ||||
|
(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
|
(OMIM) | Organic confusional state | 1 / 7739 | ||||
|
(OMIM) | Brainstem syndrome | 1 / 7739 | ||||
|
(MedDRA:10021086) | Hypopyon | 1 / 7739 | ||||
|
(OMIM) | Erythema nodosum-like eruptions | 1 / 7739 | ||||
|
(MedDRA:10028034) | Mouth ulceration | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Goolamali et al. (1976) observed this syndrome of recurrent inflammatory lesions of the mouth, genitalia, and eyes in 5 persons in 4 generations of a family. Viral and autoimmune etiologies had been suggested. In the family reported, 2 ... |
Molecular genetics OMIM |
Behcet disease is associated with the HLA-B51 (see 142830) molecule, which is relatively frequent, ranging from 45 to 60% in many different ethnic groups including Asian and Eurasian populations from Japan and the Middle East (Ohno et al., ... |