Lymphedema - cerebral arteriovenous anomaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 86914
OMIM Id: 152900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100659) Abnormality of the cerebral vasculature Very frequent [Orphanet] 25 / 7739
2
 (HPO:0002092) Pulmonary hypertension 109 / 7739
3
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
4
 (OMIM) Cerebrovascular anomaly 1 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Lymphedema of feet 1 / 7739
7
 (OMIM) Cranial bruit 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: