Cerebroretinal microangiopathy with calcifications and cysts 1

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;

Détails

Origin ID

612199;

UMLS CUI

C4552029;

Genes related to phenotype
- Conserved telomere maintenance component 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Bone marrow hypocellularity [HPO term]
- Bowing of the long bones [HPO term]
- Cerebral calcification [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Exudative retinopathy [HPO term]
- Genu valgum [HPO term]
- Hemiplegia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Infantile onset [HPO term]
- Intestinal bleeding [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukodystrophy [HPO term]
- Leukoencephalopathy [HPO term]
- Mental deterioration [HPO term]
- Metaphyseal sclerosis [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Nail dysplasia [HPO term]
- Optic atrophy [HPO term]
- Oral leukoplakia [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Pathologic fracture [HPO term]
- Postnatal growth retardation [HPO term]
- Progressive [HPO term]
- Retinal telangiectasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Spasticity [HPO term]
- Thin skin [HPO term]
- Thrombocytopenia [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Coats plus syndrome [ORDO Disease]
See also inter- (CISMeF)
- CTC1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebroretinal microangiopathy with calcifications and cysts (disorder) [SNOMED CT concept]
- Coats plus syndrome [ORDO Disease]
- cerebroretinal microangiopathy with calcifications and cysts [MeSH Supplementary Concept]
- cerebroretinal microangiopathy with calcifications and cysts [MeSH concept]
Validated automatic mappings to NTBT
- Cerebroretinal microangiopathy with calcifications and cysts (disorder) [SNOMED CT concept]
- Coats plus syndrome [ORDO Disease]
- cerebroretinal microangiopathy with calcifications and cysts [MeSH Supplementary Concept]
- cerebroretinal microangiopathy with calcifications and cysts [MeSH concept]

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