Details of Disease | DrugMAP

General Information of Disease (ID: DISH85FR)

Disease Name	Polyhydramnios, megalencephaly, and symptomatic epilepsy
Synonyms	polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE; pretzel syndrome; polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE syndrome
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS80GDF: Monogenic epilepsy DISH85FR: Polyhydramnios, megalencephaly, and symptomatic epilepsy
Disease Identifiers	MONDO ID MONDO_0012611 MESH ID C567020 UMLS CUI C1970203 OMIM ID 611087 MedGen ID 370203 Orphanet ID 500533 SNOMED CT ID 1167371007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STRADA	OTG1Z6TY	Definitive	Autosomal recessive	[1]
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References

1	Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 Aug;170(8):2181-5. doi: 10.1002/ajmg.a.37727. Epub 2016 May 12.