Moyamoya disease

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 2573
OMIM Id: 252350
607151
608796
614042
ICD-10: I67.5
UMLs: C0026654
C2931384
MeSH: C536991
D009072
MedDRA: 10028047
Snomed: 69116000
89142007

Prevalence, inheritance and age of onset:

Prevalence: 0.33 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Multifactorial
X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic central nervous system and retinal vascular disease
 -Rare genetic disease
Rare central nervous system and retinal vascular disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
2
 (HPO:0001009) Telangiectasia 46 / 7739
3
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
4
 (HPO:0005291) Inflammatory arteriopathy 2 / 7739
5
 (HPO:0100659) Abnormality of the cerebral vasculature Frequent [Orphanet] 25 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
8
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: