Details of Disease | DrugMAP

General Information of Disease (ID: DISVEINW)

Disease Name	Periventricular heterotopia with microcephaly, autosomal recessive
Synonyms	heterotopia, periventricular, autosomal recessive; ARPHM; periventricular nodular heterotopia 2; periventricular heterotopia with microcephaly, autosomal recessive
Disease Hierarchy	DISU3ZRI: Periventricular nodular heterotopia DISVEINW: Periventricular heterotopia with microcephaly, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0011966 MESH ID C564292 UMLS CUI C1842563 OMIM ID 608097 MedGen ID 334110

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARFGEF2	OTM3CQZT	Strong	Autosomal recessive	[1]
DCHS1	OTW3GX62	Strong	Biomarker	[2]
FAT4	OT7QONNV	Strong	Biomarker	[2]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.