Porencephaly

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Porencephaly is related to familial porencephaly and brain small vessel disease 2. An important gene associated with Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include brain and temporal lobe, and related phenotypes are spasticity and abnormality of movement
Related ID:
MESH:D065708
ICD11:137059367

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
1-9/100000
18
148
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Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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