Details of Disease | DrugMAP

General Information of Disease (ID: DISJTP2Q)

Disease Name	Microcephaly 15, primary, autosomal recessive
Synonyms	MCPH15; neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities; microcephaly 15, primary, autosomal recessive
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISJTP2Q: Microcephaly 15, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014660 UMLS CUI C4225310 OMIM ID 616486 MedGen ID 895496

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
MFSD2A	DT5G94L	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFSD2A	OTVG1VG0	Definitive	Autosomal recessive	[1]
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References

1	A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet. 2015 Jul;47(7):814-7. doi: 10.1038/ng.3313. Epub 2015 May 25.