ORPHA:137667
Capillary malformation-arteriovenous malformation
Synonyms: CM-AVM
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Capillary malformation-arteriovenous malformation | CM-AVM |
| fr | Malformation capillaire-malformation artérioveineuse | = en |
| de | Kapilläre Fehlbildung - arteriovenöse Fehlbildung | = en |
| es | Malformación capilar-malformación arteriovenosa | MC-MAV |
| it | Malformazioni capillari e arterovenose | = en |
| nl | Capillaire malformatie-arterioveneuze malformatie | = en |
| pt | Malformação capilar-malformação arteriovenosa | |
| pl | Malformacja naczyniowa - malformacja tętniczo-żylna | = en |
| cs | Syndrom zahrnující kapilární a arteriovenózní malformace | = en |
| uk | Капілярна мальформація - артеріовенозна мальформація | = en |
| zh | 毛细血管畸形-动静脉畸形 | = en |
| tr | Kılcal malformasyon-arteriyovenöz malformasyon | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608354 | BTNT | validated | |
| OMIM | 618196 | BTNT | validated | |
| ICD-10 | Q27.3 | NTBT | attributed | validated |
| ICD-11 | LA90.3Y | NTBT | index | validated |
| MONDO | 0012016 | E | validated | |
| MONDO | 12016 | E | validated | |
| MeSH | C564254 | E | validated | |
| UMLS | C1842180 | E | validated | |
| GARD | 11904 | 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 (5):
- ORPHA:211240Genetic vascular anomaly
rare genetic diseases - ORPHA:719955Multifocal fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:536391RASopathy
rare genetic diseases - ORPHA:506222Rare disorder potentially indicated for lung transplant
rare transplant-related disorders - ORPHA:715466Syndromic low resistance capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 261 cases | Worldwide | Case(s) | Validated | 24038909[PMID] | |
| Point prevalence | Unknown | — | 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.
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HPO phenotypes
29 annotations · validated 2021-03-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025104 | Capillary malformation | |
| Frequent (79-30%) | ||
| HP:0011276 | Vascular skin abnormality | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0009127 | Abnormality of the musculature of the limbs | |
| HP:0004947 | Arteriovenous fistula | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0002408 | Cerebral arteriovenous malformation | |
| HP:0002637 | Cerebral ischemia | |
| HP:0000421 | Epistaxis | |
| HP:0001722 | High-output congestive heart failure | |
| HP:0001004 | Lymphedema | |
| HP:0012733 | Macule | |
| HP:0100784 | Peripheral arteriovenous fistula | |
| HP:0001009 | Telangiectasia | |
| HP:0030713 | Vein of Galen aneurysmal malformation | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0010310 | Chylothorax | |
| HP:0001635 | Congestive heart failure | |
| HP:0000996 | Facial capillary hemangioma | |
| HP:0004302 | Functional motor deficit | |
| HP:0002315 | Headache | |
| HP:0001028 | Hemangioma | |
| HP:0000238 | Hydrocephalus | |
| HP:0020073 | Hypopigmented macule | |
| HP:0002076 | Migraine | |
| HP:0000011 | Neurogenic bladder | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21348050[PMID]_31017636[PMID]_29891884[PMID]_28687708[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137667
- This record as JSON: /data/d/137667.json