Details of Disease

General Information of Disease (ID: DIS11ELA)

Disease Name Coats plus syndrome
Synonyms cerebroretinal microangiopathy with calcifications and cysts; CRMCC; cerebroretinal microangiopathy with calcfications and cysts
Definition
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
Disease Hierarchy
DISLXQHV: Telomere syndrome
DIST86NS: Congenital vitreoretinal dysplasia
DIS11ELA: Coats plus syndrome
Disease Identifiers
MONDO ID
MONDO_0012815
MESH ID
C567401
UMLS CUI
C2677299
MedGen ID
383079
Orphanet ID
313838
SNOMED CT ID
711482008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CTC1 OTRJY7QD Supportive Autosomal recessive [1]
STN1 OT8UWRA3 Supportive Autosomal recessive [2]
HES7 OT6F9R7P Strong Genetic Variation [3]
NDP OTGDJ4US Strong Genetic Variation [4]
TINF2 OT861N2N Strong Genetic Variation [5]
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References

1 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.
2 ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet. 2015 Aug;134(8):815-22. doi: 10.1007/s00439-015-1561-6. Epub 2015 May 10.
3 Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.BMC Med Genet. 2015 Feb 10;16:5. doi: 10.1186/s12881-015-0151-8.
4 Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.J Child Neurol. 2013 Dec;28(12):1702-8. doi: 10.1177/0883073812467849. Epub 2012 Dec 5.
5 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.