EPHB4-related capillary malformation-arteriovenous malformation
Synonyms: CM-AVM2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare capillary malformation-arteriovenous malformation characterized by multifocal pink-to-red cutaneous capillary malformations, mainly localized on the extremities, trunk, head and neck. Bier spots, epistaxis, and telangiectasias on the lips, perioral region and on the upper thorax are frequently observed. Arteriovenous malformations and fistulas involving muscle, bone, the spine and the brain may also be present. Most patients are asymptomatic except for the capillary malformations, the family history is often positive for capillary malformations.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EPHB4-related capillary malformation-arteriovenous malformation | CM-AVM2 |
| fr | Malformation capillaire-malformation artérioveineuse associées à EPHB4 | = en |
| de | Kapilläre Fehlbildung mit arteriovenöser Fehlbildung, EPHB4-assoziiert | = en |
| es | Síndrome de malformación capilar-malformación arteriovenosa asociado a EPHB4 | MC-MAV2 |
| it | Malformazione capillare-malformazione arterovenosa correlate a EPHB4 | = en |
| nl | EPHB4-gerelateerde capillaire malformatie-arterioveneuze malformatie | = en |
| pt | Malformação capilar-arteriovenosa EPHB4-relacionada | = en |
| pl | Malformacja naczyń włosowatych - malformacja tętniczo-żylna związana z EPHB4 | = en |
| cs | EPHB4-related capillary malformation-arteriovenous malformation | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618196 | E | validated | |
| ICD-10 | Q27.3 | NTBT | attributed | validated |
| ICD-11 | LC50.Y | NTBT | attributed | not yet validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:137667Capillary malformation-arteriovenous malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare circulatory system diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPHB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3395 | ENSG00000196411 | 600011 | 7q22.1 | EPH receptor B4 | 30760892[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/693912
- This record as JSON: /data/d/693912.json