ORPHA:117
Behçet disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Behçet disease | |
| fr | Maladie de Behçet | |
| de | Behçet-Syndrom | Behçet-Krankheit · Morbus Adamantiades-Behçet |
| es | Enfermedad de Behçet | |
| it | Malattia di Behçet | |
| nl | Ziekte van Behçet | |
| pt | Doença Behçet | |
| pl | Choroba Behçeta | |
| cs | Behçetův syndrom | |
| uk | Хвороба Бехчета | |
| zh | 白塞病 | |
| tr | Behçet hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109650 | E | validated | |
| ICD-10 | M35.2 | E | specific | validated |
| ICD-11 | 4A62 | E | specific | validated |
| MONDO | 0007191 | E | validated | |
| MeSH | D001528 | E | validated | |
| UMLS | C0004943 | E | validated | |
| GARD | 848 | E | validated | |
| MedDRA | 10004213 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases - ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:156140Predominantly large-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:280926Systemic diseases with anterior uveitis
rare ophthalmic disorders - ORPHA:280933Systemic diseases with panuveitis
rare ophthalmic disorders - ORPHA:280930Systemic diseases with posterior uveitis
rare ophthalmic disorders - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324953Unclassified autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C4A | Major susceptibility factor in | Assessed | HGNC:1323 | ENSG00000244731 | 120810 | 6p21.33 | complement C4A (Chido/Rodgers blood group) | 23918728[PMID] |
| CCR1 | Major susceptibility factor in | Assessed | HGNC:1602 | ENSG00000163823 | 601159 | 3p21.31 | C-C motif chemokine receptor 1 | 26097239[PMID] |
| ERAP1 | Major susceptibility factor in | Assessed | HGNC:18173 | ENSG00000164307 | 606832 | 5q15 | endoplasmic reticulum aminopeptidase 1 | 26097239[PMID] |
| FAS | Major susceptibility factor in | Assessed | HGNC:11920 | ENSG00000026103 | 134637 | 10q23.31 | Fas cell surface death receptor | 26136352[PMID] |
| HLA-B | Major susceptibility factor in | Assessed | HGNC:4932 | ENSG00000234745 | 142830 | 6p21.33 | major histocompatibility complex, class I, B | 20622878[PMID] |
| IFNGR1 | Major susceptibility factor in | Assessed | HGNC:5439 | ENSG00000027697 | 107470 | 6q23.3 | interferon gamma receptor 1 | 33393726[PMID] |
| IL10 | Major susceptibility factor in | Assessed | HGNC:5962 | ENSG00000136634 | 124092 | 1q32.1 | interleukin 10 | 20622878[PMID]_26015771[PMID] |
| IL12A | Major susceptibility factor in | Assessed | HGNC:5969 | ENSG00000168811 | 161560 | 3q25.33 | interleukin 12A | 25799145[PMID] |
| IL12A-AS1 | Major susceptibility factor in | Assessed | HGNC:49094 | ENSG00000244040 | 3q25.33 | IL12A antisense RNA 1 | 26097239[PMID] | |
| IL23R | Major susceptibility factor in | Assessed | HGNC:19100 | ENSG00000162594 | 607562 | 1p31.3 | interleukin 23 receptor | 23633568[PMID] |
| KLRC4 | Major susceptibility factor in | Assessed | HGNC:6377 | ENSG00000183542 | 602893 | 12p13.2 | killer cell lectin like receptor C4 | 26097239[PMID] |
| MEFV | Major susceptibility factor in | Assessed | HGNC:6998 | ENSG00000103313 | 608107 | 16p13.3 | MEFV innate immunity regulator, pyrin | 23633568[PMID] |
| STAT4 | Major susceptibility factor in | Assessed | HGNC:11365 | ENSG00000138378 | 600558 | 2q32.2-q32.3 | signal transducer and activator of transcription 4 | 23001997[PMID]_26097239[PMID] |
| TLR4 | Major susceptibility factor in | Assessed | HGNC:11850 | ENSG00000136869 | 603030 | 9q33.1 | toll like receptor 4 | 23633568[PMID] |
| UBAC2 | Major susceptibility factor in | Assessed | HGNC:20486 | ENSG00000134882 | 13q32.3 | UBA domain containing 2 | 21918955[PMID]_22455605[PMID] |
5
Prevalence and incidence
18 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.66 / 100 000 | Spain | Value and class | Validated | 10743812[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.24 / 100 000 | Italy | Value and class | Validated | 17266063[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.2 / 100 000 | United States | Value and class | Validated | 19405011[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.58 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 21199472[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.1 / 100 000 | France | Value and class | Validated | 19035493[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.8 / 100 000 | Italy | Value and class | Validated | 17266063[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.1 / 100 000 | United Kingdom | Value and class | Validated | 36068543[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.2 / 100 000 | Sweden | Value and class | Validated | 7904097[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Portugal | Value and class | Validated | 10519357[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Japan | Value and class | Validated | 19035493[PMID]_[EXPERT] |
| Point prevalence | >1 / 1000 | 225 / 100 000 | Turkey | Value and class | Validated | 19035493[PMID]_[EXPERT] |
| Point prevalence | 1-5 / 10 000 | 16.7 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 10519357[PMID] |
| Point prevalence | 1-5 / 10 000 | 15.2 / 100 000 | Israel | Value and class | Validated | 16897122[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.4 / 100 000 | Taiwan, Province of China | Value and class | Not yet validated | 22899470[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.8 / 100 000 | Taiwan, Province of China | Value and class | Validated | 22899470[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Saudi Arabia | Value and class | Validated | 10519357[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 1.51 / 100 000 | Korea, Republic of | Value and class | Validated | 32770715[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
85 annotations · validated 2024-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001369 | Arthritis | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0001287 | Meningitis | |
| HP:0002076 | Migraine | |
| HP:0003326 | Myalgia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000155 | Oral ulcer | |
| HP:0100796 | Orchitis | |
| HP:0200034 | Papule | |
| HP:0000613 | Photophobia | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0002633 | Vasculitis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001061 | Acne | |
| HP:0002829 | Arthralgia | |
| HP:0001289 | Confusion | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0012219 | Erythema nodosum | |
| HP:0001288 | Gait disturbance | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0003249 | Genital ulcers | |
| HP:0002315 | Headache | |
| HP:0001269 | Hemiparesis | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0012649 | Increased inflammatory response | |
| HP:0007813 | Nongranulomatous uveitis | |
| HP:0012121 | Panuveitis | |
| HP:0025532 | Positive pathergy test | |
| HP:0200039 | Pustule | |
| HP:0002638 | Superficial thrombophlebitis | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:4000041 | AA amyloidosis | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002039 | Anorexia | |
| HP:0001659 | Aortic regurgitation | |
| HP:0004420 | Arterial thrombosis | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0010885 | Avascular necrosis | |
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0002637 | Cerebral ischemia | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002376 | Developmental regression | |
| HP:0100584 | Endocarditis | |
| HP:0000031 | Epididymitis | |
| HP:0100758 | Gangrene | |
| HP:0100820 | Glomerulopathy | |
| HP:0002105 | Hemoptysis | |
| HP:0001347 | Hyperreflexia | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002383 | Infectious encephalitis | |
| HP:0000737 | Irritability | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0002354 | Memory impairment | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001658 | Myocardial infarction | |
| HP:0012819 | Myocarditis | |
| HP:0100614 | Myositis | |
| HP:0033430 | Non-infectious meningitis | |
| HP:0100653 | Optic neuritis | |
| HP:0001733 | Pancreatitis | |
| HP:0003401 | Paresthesia | |
| HP:0001701 | Pericarditis | |
| HP:0002202 | Pleural effusion | |
| HP:0002102 | Pleuritis | |
| HP:0002204 | Pulmonary embolism | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0001954 | Recurrent fever | |
| HP:0000083 | Renal insufficiency | |
| HP:0000488 | Retinopathy | |
| HP:0100654 | Retrobulbar optic neuritis | |
| HP:0001250 | Seizure | |
| HP:0001744 | Splenomegaly | |
| HP:0002321 | Vertigo | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0002014 | Diarrhea | |
| HP:0000099 | Glomerulonephritis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 33622338[PMID]_37414674[PMID]_36611332[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/117
- This record as JSON: /data/d/117.json