Details of Disease | DrugMAP

General Information of Disease (ID: DISGSTH2)

Disease Name	Microcephaly and chorioretinopathy 1
Synonyms	MCCRP1; autosomal recessive chorioretinopathy-microcephaly syndrome; microcephaly and chorioretinopathy, autosomal recessive, 1; microcephaly and chorioretinopathy caused by mutation in TUBGCP6; microcephaly and chorioretinopathy, autosomal recessive, type 1; TUBGCP6 microcephaly and chorioretinopathy; microcephaly and chorioretinopathy type 1; autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome; microcephaly and chorioretinopathy 1; Pseudotoxoplasmosis syndrome
Definition	An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS4YCDH: Microcephaly and chorioretinopathy DISGGL77: Inherited retinal dystrophy DISGSTH2: Microcephaly and chorioretinopathy 1
Disease Identifiers	MONDO ID MONDO_0009624 UMLS CUI C3278481 OMIM ID 251270 MedGen ID 480111

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
TUBGCP4	OTN1URWQ	Supportive	Autosomal recessive	[1]
TUBGCP6	OTAZIS7D	Definitive	Autosomal recessive	[2]
PLK4	OTV8KZDZ	Supportive	Autosomal recessive	[3]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLK4	TTGPNZQ	Supportive	Autosomal recessive	[3]
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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.
2	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.
3	Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. doi: 10.1038/ejhg.2016.119. Epub 2016 Sep 21.