Moyamoya Disease 1 (MYMY1)

Alias:
Moyamoya Disease
Spontaneous Occlusion of the Circle of Willis
Progressive Intracranial Arterial Occlusion
Idiopathic Moyamoya Disease
Progressive Intracranial Occlusive Arteropathy
Cerebrovascular Moyamoya Disease
Moya-Moya Disease
Mymy1
Mymy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Moyamoya Disease 1, also known as moyamoya disease, is related to microcephalic osteodysplastic primordial dwarfism, type ii and cerebrovascular disease. An important gene associated with Moyamoya Disease 1 is GUCY1A1 (Guanylate Cyclase 1 Soluble Subunit Alpha 1), and among its related pathways/superpathways is Glypican 1 network. The drugs Neuroprotective Agents and 3-n-butylphthalide have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related phenotypes are telangiectasia and intellectual disability
Related ID:
MESH:D009072
ICD11:1746892088

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
XL
XLD
AR
All ages
1-9/1000000
58
487
19

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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