HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 234800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001741) Phimosis 5 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0010302) Spinal cord tumor 5 / 7739
4
 (HPO:0005692) Joint hyperflexibility 20 / 7739
5
 (HPO:0001388) Joint laxity 117 / 7739
6
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
7
 (HPO:0001063) Acrocyanosis 56 / 7739
8
 (HPO:0007461) Hemangiomatosis 1 / 7739
9
 (OMIM) Cervicothoracic spinal tumor 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: