TELANGIECTASIA, HEREDITARY BENIGN

General Information (adopted from Orphanet):

Synonyms, Signs: TELANGIECTASIA, GENERALIZED ESSENTIAL
HBT
Number of Symptoms 11
OrphanetNr:
OMIM Id: 187260
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007489) Diffuse telangiectasia 2 / 7739
2
(OMIM) Lesions become soft and paler with age 1 / 7739
3
(OMIM) Variable number of lesions (1 to greater than 10) 1 / 7739
4
(OMIM) No systemic vascular lesions 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Dilatation of the small vessels in the upper part of the dermis 1 / 7739
7
(HPO:0011463) Childhood onset 65 / 7739
8
(OMIM) Usually venules, but can also be capillaries and arterioles 1 / 7739
9
(OMIM) No hemorrhage 1 / 7739
10
(OMIM) Size variation (1 x 1 to 6 x 4 cm) 1 / 7739
11
(OMIM) Small, red lesion, may increase in size with age 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ryan and Wells (1971) described 7 kindreds in each of which several persons had widespread telangiectases. The areas affected were predominantly the face, upper limbs, and upper trunk. The telangiectases were venular and associated with upper dermal atrophy. ...