Details of Disease | DrugMAP

General Information of Disease (ID: DISIAYWB)

Disease Name	Occipital pachygyria and polymicrogyria
Synonyms	OCCM; cortical malformations, occipital; occipital MCD; occipital malformations of cortical development
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS6ZC3X: Brain disease DISIAYWB: Occipital pachygyria and polymicrogyria
Disease Identifiers	MONDO ID MONDO_0013583 UMLS CUI C3279875 OMIM ID 614115 MedGen ID 481505 Orphanet ID 280640

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBR1	OT14JQT8	Supportive	Autosomal recessive	[1]
LAMC3	OTKNAYJO	Definitive	Autosomal recessive	[2]
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References

1	Mutations in TBR1 gene leads to cortical malformations and intellectual disability. Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27.
2	Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet. 2011 Jun;43(6):590-4. doi: 10.1038/ng.836. Epub 2011 May 15.