Beh├žet 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: Sort by abundance 

1
(HPO:0000031) Epididymitis 4 / 7739
2
(HPO:0003249) Genital ulcers 2 / 7739
3
(HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
4
(HPO:0100820) Glomerulopathy Occasional [Orphanet] 46 / 7739
5
(HPO:0100796) Orchitis Very frequent [Orphanet] 7 / 7739
6
(HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
7
(HPO:0000155) Oral ulcer 9 / 7739
8
(HPO:0001097) Keratoconjunctivitis sicca Occasional [Orphanet] 25 / 7739
9
(HPO:0100654) Retrobulbar optic neuritis Occasional [Orphanet] 5 / 7739
10
(HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
11
(HPO:0001094) Iridocyclitis 3 / 7739
12
(HPO:0001101) Iritis 3 / 7739
13
(HPO:0000554) Uveitis 10 / 7739
14
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
15
(HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
16
(HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
17
(HPO:0012424) Chorioretinitis 1 / 7739
18
(HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
19
(HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
20
(HPO:0000737) Irritability 93 / 7739
21
(HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
22
(HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
23
(HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
24
(HPO:0007256) Abnormal pyramidal signs Occasional [Orphanet] 116 / 7739
25
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
26
(HPO:0004372) Reduced consciousness/confusion Frequent [Orphanet] 73 / 7739
27
(HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
28
(HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
29
(HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
30
(HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
31
(HPO:0001287) Meningitis Very frequent [Orphanet] 46 / 7739
32
(HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
33
(HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
34
(HPO:0002354) Memory impairment Occasional [Orphanet] 63 / 7739
35
(HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
36
(HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
37
(HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
38
(HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
39
(HPO:0010885) Aseptic necrosis Occasional [Orphanet] 24 / 7739
40
(HPO:0001369) Arthritis 44 / 7739
41
(HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
42
(HPO:0002039) Anorexia Occasional [Orphanet] 62 / 7739
43
(HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
44
(HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
45
(HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
46
(HPO:0001733) Pancreatitis Occasional [Orphanet] 46 / 7739
47
(HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
48
(HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
49
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
50
(HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
51
(HPO:0001063) Acrocyanosis 56 / 7739
52
(HPO:0001061) Acne Frequent [Orphanet] 33 / 7739
53
(HPO:0010783) Erythema 138 / 7739
54
(HPO:0200037) Skin vesicle Frequent [Orphanet] 102 / 7739
55
(HPO:0002229) Alopecia areata 5 / 7739
56
(HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
57
(HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
58
(HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
59
(HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 76 / 7739
60
(HPO:0012089) Arteritis Very frequent [Orphanet] 40 / 7739
61
(HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
62
(HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
63
(HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
64
(HPO:0002638) Superficial thrombophlebitis 6 / 7739
65
(HPO:0004936) Venous thrombosis Frequent [Orphanet] 41 / 7739
66
(HPO:0004420) Arterial thrombosis Occasional [Orphanet] 20 / 7739
67
(HPO:0011227) Elevated C-reactive protein level Frequent [Orphanet] 55 / 7739
68
(HPO:0100758) Gangrene Occasional [Orphanet] 25 / 7739
69
(HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
70
(HPO:0002113) Pulmonary infiltrates Occasional [Orphanet] 36 / 7739
71
(HPO:0002105) Hemoptysis Occasional [Orphanet] 30 / 7739
72
(HPO:0002204) Pulmonary embolism Occasional [Orphanet] 26 / 7739
73
(HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
74
(HPO:0100326) Immunologic hypersensitivity Frequent [Orphanet] 28 / 7739
75
(HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
76
(HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
77
(HPO:0100614) Myositis Occasional [Orphanet] 21 / 7739
78
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
79
(HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
80
(OMIM) Pustular skin lesions 1 / 7739
81
(OMIM) Choreoretinitis 1 / 7739
82
(OMIM) Hyperirritability 2 / 7739
83
(MedDRA:10039621) Schizoaffective disorder 1 / 7739
84
(OMIM) Meningoencephalomyelitic syndrome 1 / 7739
85
(MedDRA:10018180) Genital ulceration 1 / 7739
86
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
87
(OMIM) Organic confusional state 1 / 7739
88
(OMIM) Brainstem syndrome 1 / 7739
89
(MedDRA:10021086) Hypopyon 1 / 7739
90
(OMIM) Erythema nodosum-like eruptions 1 / 7739
91
(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., ...