ORPHA:1059
Blue rubber bleb nevus syndrome
Synonyms: BRBN · Bean syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blue rubber bleb nevus syndrome | BRBN · Bean syndrome |
| fr | Angiomatose cutanée et digestive | |
| de | Blue-Rubber-Bleb-Naevus-Syndrom | BRBN · Bean-Syndrom · Blaues Gummibläschen-Naevus-Syndrom |
| es | Síndrome de nevo azul en tetina de goma | BRBN · Síndrome de Bean |
| it | Sindrome del nevo blu | Sindrome di Bean · BRBN |
| nl | 'Blue rubber bleb nevus'-syndroom | Syndroom van 'blue rubber bleb'-naevus · BRBN · Syndroom van Bean · BRBNS |
| pt | Nevo bolhoso esponjoso azul | Síndrome Bean |
| pl | Zespół gumiastych pęcherzyków znamionowych | BRBN · Zespół Bean |
| cs | Blue rubber bleb naevus | Beanův syndrom |
| uk | Блакитний гумово-пухирчастий невус | Синдром Бинса · BRBN |
| zh | 蓝色橡皮疱样痣 | Bean综合征 |
| tr | Mavi kauçuk kabarcık nevüs | BRBN · Bean sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112200 | E | validated | |
| ICD-10 | Q27.8 | NTBT | attributed | validated |
| ICD-11 | LC51 | NTBT | index | validated |
| MONDO | 0007203 | E | validated | |
| MeSH | C536240 | E | validated | |
| UMLS | C0346072 | E | validated | |
| GARD | 5940 | 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 (5):
- ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:715339Multifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:459548Rare genetic venous malformation
rare genetic diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TEK | Disease-causing somatic mutation(s) in | Assessed | HGNC:11724 | ENSG00000120156 | 600221 | 9p21.2 | TEK receptor tyrosine kinase | 27519652[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | 1-9 / 100 000 | 7 / 100 000 | Worldwide | Value and class | Validated | 30576827[PMID]_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.
6
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0002653 | Bone pain | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0000988 | Skin rash | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0002597 | Abnormality of the vasculature | |
| HP:0002584 | Intestinal bleeding | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0002580 | Volvulus | |
| Occasional (29-5%) | ||
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0001935 | Microcytic anemia | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1059
- This record as JSON: /data/d/1059.json