Details of Disease | DrugMAP

General Information of Disease (ID: DISXRGXJ)

Disease Name	Microcephaly 13, primary, autosomal recessive
Synonyms	MCPH13; autosomal recessive primary microcephaly caused by mutation in CENPE; microcephaly 13, primary, autosomal recessive; CENPE autosomal recessive primary microcephaly
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.
Disease Hierarchy	DISZ93BO: Primordial dwarfism and slender bone disorder DISEVUBA: Seckel syndrome DIS29IE3: Autosomal recessive primary microcephaly DISXRGXJ: Microcephaly 13, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014473 UMLS CUI C4015080 OMIM ID 616051 MedGen ID 863517

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
CENPE	TTZD5QR	Limited	Autosomal recessive	[1]
CENPE	TTZD5QR	Limited	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CENPE	OTQ7AP04	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug;133(8):1023-39. doi: 10.1007/s00439-014-1443-3. Epub 2014 Apr 20.