Tufted angioma

General Information (adopted from Orphanet):

Synonyms, Signs: TUFTED ANGIOMA
Nakagawa angioblastoma
Number of Symptoms 11
OrphanetNr: 1063
OMIM Id: 607859
ICD-10: D18.0
UMLs: C0346073
MeSH: C536924
MedDRA:
Snomed: 254786000

Prevalence, inheritance and age of onset:

Prevalence: > 200 cases [Orphanet]
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic vascular anomaly
 -Rare genetic disease
Vascular tumor
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
2
 (HPO:0012329) Tufted angioma 1 / 7739
3
 (HPO:0011276) Vascular skin abnormality 24 / 7739
4
 (OMIM) Lymphatic vessels present at the periphery of lesion 1 / 7739
5
 (OMIM) Vessels may form rounded nodules ('tufts') 1 / 7739
6
 (HPO:0003829) Incomplete penetrance 85 / 7739
7
 (OMIM) Exophytic, red lesion 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Frequent bleeding may occur with trauma 1 / 7739
10
 (OMIM) Histology shows 'cannonball' distribution of capillary-sized vessels in the dermis 1 / 7739
11
 (OMIM) Usually present on skin of neck, shoulders, or trunk 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other ...
Clinical Description OMIM Tille et al. (2003) described a family with a 2-year-old boy with a single tufted angioma and 4 relatives with single lesions in 5 generations. The proband presented with a red exophytic lesion on the upper left back ...