Details of Disease

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.