Familial capillary hemangioma

General Information (adopted from Orphanet):

Synonyms, Signs: HEMANGIOMA, HEREDITARY CAPILLARY
HCI
Number of Symptoms 2
OrphanetNr: 91415
OMIM Id: 602089
ICD-10: D18.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Palpebral tumor with a vascular malformation
 -Rare eye disease
 -Rare genetic disease
Vascular tumor
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0005306) Capillary hemangiomas 8 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births (Mulliken and Young, 1988). Hemangiomas tend to appear ...
Clinical Description OMIM Walter et al. (1997, 1999) reported 5 families in which individuals had capillary hemangiomas; 3 families had affected individuals spanning 3 generations. Hemangiomas were defined as lesions that were present at birth or shortly thereafter, displayed a proliferative ...
Molecular genetics OMIM - Germline Mutations

In hemangioma endothelial cells, Jinnin et al. (2008) found that expression of VEGFR1 (FLT1; 165070) was markedly reduced, and that VEGFR2 activity was increased, compared to controls. In normal endothelial cells, FLT1 transcription ...