Details of Disease

General Information of Disease (ID: DISIF9XK)

Disease Name Bilateral perisylvian polymicrogyria
Disease Hierarchy
DISMZLHY: Bilateral polymicrogyria
DISIF9XK: Bilateral perisylvian polymicrogyria
Disease Identifiers
MONDO ID
MONDO_0020340
MESH ID
C536658
UMLS CUI
C1845668
OMIM ID
300388
MedGen ID
337000
HPO ID
HP:0032407
Orphanet ID
98889
SNOMED CT ID
438583008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PI4KA TTCUS9F Definitive GermlineCausalMutation [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADGRG1 OTQBB8NT Limited GermlineCausalMutation [2]
CCND2 OTDULQF9 Limited Biomarker [3]
SRPX2 OT6A63TX Limited Genetic Variation [4]
BICD2 OTVJ03NZ Strong Genetic Variation [5]
MCF2 OTB9N93T Strong Genetic Variation [6]
PIK3R2 OTZSUQK5 Strong Genetic Variation [7]
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⏷ Show the Full List of 6 DOT(s)

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 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.Science. 2014 Feb 14;343(6172):764-8. doi: 10.1126/science.1244392.
3 A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11.
4 Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.Hum Mol Genet. 2010 Dec 15;19(24):4848-60. doi: 10.1093/hmg/ddq415. Epub 2010 Sep 21.
5 Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19.
6 MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.Ann Clin Transl Neurol. 2020 Jan;7(1):121-125. doi: 10.1002/acn3.50949. Epub 2019 Dec 17.
7 De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.Eur J Hum Genet. 2016 Aug;24(9):1359-62. doi: 10.1038/ejhg.2016.7. Epub 2016 Feb 10.