Details of Disease | DrugMAP

General Information of Disease (ID: DIS7YCD1)

Disease Name	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Synonyms	PMGYCHA; polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Disease Hierarchy	DISIF9XK: Bilateral perisylvian polymicrogyria DISD715V: Hereditary neurological disease DIS7YCD1: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Disease Identifiers	MONDO ID MONDO_0014679 UMLS CUI C4225295 OMIM ID 616531 MedGen ID 899982

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PI4KA	TTCUS9F	Limited	Biomarker	[1]
PI4KA	TTCUS9F	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PI4KA	OT2L2G6C	Definitive	Autosomal recessive	[2]
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References

1	Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Hum Mol Genet. 2015 Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8.
2	Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313.