" /> Cerebroretinal microangiopathy with calcifications and cysts 1 - CISMeF





Preferred Label : Cerebroretinal microangiopathy with calcifications and cysts 1;

Symbol : CRMCC1;

CISMeF acronym : CRMCC; CRMCC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CRMCC; Coats plus syndrome;

Description : Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by Anderson et al., 2012 and Polvi et al., 2012). Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome (614561), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the conserved telomere maintenance component 1 gene (CTC1, 613129.0001);

Laboratory abnormalities : Shortened telomeres;

Prefixed ID : #612199;

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27/07/2025


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