Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (PMSE)

Alias:
Pmse Syndrome
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Pmse
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy, also known as pmse syndrome, is related to polyhydramnios and epilepsy. An important gene associated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is STRADA (STE20 Related Adaptor Alpha), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and AMP-activated protein kinase signaling. Affiliated tissues include uterus and heart, and related phenotypes are macrocephaly and seizure

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
26
5

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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