Arterial dissection - lentiginosis
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
7
|
OrphanetNr:
|
1682
|
OMIM Id:
|
600459
|
ICD-10:
|
Q87.8
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
4
cases
[Orphanet]
|
Inheritance:
|
Unknown
[Orphanet]
|
Age of onset:
|
Childhood
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
Rare vascular disease
-Rare circulatory system disease
|
|
|
|
|
|
|
|
|
1
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
2
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
3
|
(HPO:0001003)
|
Multiple lentigines |
|
|
|
|
11 / 7739
|
4
|
(HPO:0012180)
|
Cystic medial necrosis |
|
|
|
|
2 / 7739
|
5
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
6
|
(HPO:0005294)
|
Arterial dissection |
|
|
|
|
8 / 7739
|
7
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |