Details of Disease | DrugMAP

General Information of Disease (ID: DISBTP8M)

Disease Name	Microcephaly and chorioretinopathy 3
Synonyms	microcephaly and chorioretinopathy, autosomal recessive, 3; MCCRP3; microcephaly and chorioretinopathy, autosomal recessive, type 3; TUBGCP4 microcephaly and chorioretinopathy; microcephaly and chorioretinopathy type 3; microcephaly and chorioretinopathy caused by mutation in TUBGCP4
Definition	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
Disease Hierarchy	DIS4YCDH: Microcephaly and chorioretinopathy DISBTP8M: Microcephaly and chorioretinopathy 3
Disease Identifiers	MONDO ID MONDO_0014592 UMLS CUI C4225362 OMIM ID 616335 MedGen ID 902924

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBGCP4	OTN1URWQ	Strong	Autosomal recessive	[1]
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References

1	Mutations in TUBGCP4 alter microtubule organization via the -tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26.