raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:717611

Capillary-venous malformation

Synonyms: CVM · Capillary-venulous malformation

Type
Morphological anomaly
Group
Disorder
Inheritance
Not applicable
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enCapillary-venous malformationCVM · Capillary-venulous malformation
frMalformation capillaire-veneuseCVM
deKapillär-venöse FehlbildungCVM · Kapillär-venöse Malformation
esMalformación capilar-venosaMCV · Malformaciones capilar-venulosas
itMalformazione capillare-venosaCVM · Malformazione capillare-venulare
nlCapillair-veneuze malformatieCapillair-venuleuze malformatie · CVM · Malformaties van capillair en venule
ptCapillary-venous malformation
plMalformacja włośniczkowo-żylna= en
csCapillary-venous malformation= en
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
PIK3CADisease-causing somatic mutation(s) inAssessedHGNC:8975ENSG000001218791718343q26.32phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha38880808[PMID]
TEKDisease-causing somatic mutation(s) inAssessedHGNC:11724ENSG000001201566002219p21.2TEK receptor tyrosine kinase38880808[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card