Details of Disease | DrugMAP

General Information of Disease (ID: DISZWLL2)

Disease Name	Cerebroretinal microangiopathy with calcifications and cysts 2
Synonyms	CRMCC2; Coats plus syndrome caused by mutation in STN1; STN1 Coats plus syndrome; cerebroretinal microangiopathy with calcifications and cysts 2; cerebroretinal microangiopathy with calcifications and cysts type 2
Definition	Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.
Disease Hierarchy	DIS11ELA: Coats plus syndrome DISZWLL2: Cerebroretinal microangiopathy with calcifications and cysts 2
Disease Identifiers	MONDO ID MONDO_0015026 UMLS CUI C4479220 OMIM ID 617341 MedGen ID 1390862

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
STN1	OT8UWRA3	Strong	Autosomal recessive	[1]
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References

1	Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.