Details of Disease | DrugMAP

General Information of Disease (ID: DISX0KNA)

Disease Name	Cerebroretinal microangiopathy with calcifications and cysts 1
Synonyms	CRMCC1; Coats plus syndrome; Crmcc; cerebroretinal microangiopathy with calcifications and cysts; CTC1 Coats plus syndrome; cerebroretinal microangiopathy with calcifications and cysts 1; Coats plus syndrome caused by mutation in CTC1
Definition	Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.
Disease Hierarchy	DIS11ELA: Coats plus syndrome DISX0KNA: Cerebroretinal microangiopathy with calcifications and cysts 1
Disease Identifiers	MONDO ID MONDO_0024564 UMLS CUI C4552029 OMIM ID 612199 MedGen ID 1636142

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
CTC1	OTRJY7QD	Definitive	Autosomal recessive	[1]
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References

1	Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.