ORPHA:90340
Blau syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blau syndrome | |
| fr | Syndrome de Blau | |
| de | Blau-Syndrom | |
| es | Síndrome de Blau | |
| it | Sindrome di Blau | |
| nl | Blausyndroom | |
| pt | Síndrome Blau | |
| pl | Zespół Blaua | |
| cs | Blauův syndrom | |
| uk | Синдром Блау | |
| zh | Blau综合征 | |
| tr | Blau sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186580 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | index | validated |
| MONDO | 0008523 | E | validated | |
| UMLS | C5201146 | E | validated | |
| GARD | 304 | E | validated | |
| MedDRA | 10071755 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (13):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:324930Granulomatous autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324950Granulomatous autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases - ORPHA:264714Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:280926Systemic diseases with anterior uveitis
rare ophthalmic disorders - ORPHA:280933Systemic diseases with panuveitis
rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3274Granulomatous arthritis of childhood moved to · inactive
- ORPHA:90341Early-onset sarcoidosis moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5331 | ENSG00000167207 | 605956 | 16q12.1 | nucleotide binding oligomerization domain containing 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.06 / 100 000 | Denmark | Value and class | Validated | [EXPERT] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
46 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012647 | Abnormal inflammatory response | |
| HP:0002829 | Arthralgia | |
| HP:0010783 | Erythema | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001094 | Iridocyclitis | |
| HP:0001386 | Joint swelling | |
| HP:0000491 | Keratitis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0200034 | Papule | |
| HP:0005764 | Polyarticular arthritis | |
| HP:0012123 | Posterior uveitis | |
| HP:0000988 | Skin rash | |
| HP:0100769 | Synovitis | |
| Frequent (79-30%) | ||
| HP:0001369 | Arthritis | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0000958 | Dry skin | |
| HP:0012219 | Erythema nodosum | |
| HP:0001945 | Fever | |
| HP:0000501 | Glaucoma | |
| HP:0000613 | Photophobia | |
| Occasional (29-5%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0001392 | Abnormality of the liver | |
| HP:0001903 | Anemia | |
| HP:0004942 | Aortic aneurysm | |
| HP:0006770 | Clear cell renal cell carcinoma | |
| HP:0002094 | Dyspnea | |
| HP:0010628 | Facial palsy | |
| HP:0000822 | Hypertension | |
| HP:0008064 | Ichthyosis | |
| HP:0005310 | Large vessel vasculitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000112 | Nephropathy | |
| HP:0001701 | Pericarditis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000488 | Retinopathy | |
| HP:0100654 | Retrobulbar optic neuritis | |
| HP:0200042 | Skin ulcer | |
| HP:0001744 | Splenomegaly | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0000572 | Visual loss | |
| HP:0000217 | Xerostomia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25136265[PMID]_20084402[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90340
- This record as JSON: /data/d/90340.json