ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 600419
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001528) Hemihypertrophy 13 / 7739
2
(HPO:0001071) Angiokeratoma corporis diffusum 7 / 7739
3
(HPO:0000975) Hyperhidrosis 64 / 7739
4
(HPO:0004947) Arteriovenous fistula 3 / 7739
5
(OMIM) Arteriographic demonstration of multiple arteriovenous fistulas 1 / 7739
6
(OMIM) Asymmetric hypertrophy and hyperhidrosis of a leg 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Calzavara-Pinton et al. (1995) described a family in which 7 members in 3 generations in a pattern consistent with autosomal dominant inheritance had angiokeratoma corporis diffusum. Five of these 7 individuals also were known to have arteriovenous fistulas. ...