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cerebroretinal microangiopathy with calcifications and cysts 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.
Uniprot Description An autosomal recessive pleiomorphic 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.
Mondo Term and Equivalent IDs
MONDO:0024564: cerebroretinal microangiopathy with calcifications and cysts 1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:612199
MONDO:0024564
High level summary of knowledge for a disease, including descriptions and datasource references.