Cerebroretinal microangiopathy with calcifications and cysts 2

Preferred Label : Cerebroretinal microangiopathy with calcifications and cysts 2;

Symbol : CRMCC2;

CISMeF acronym : CRMCC2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STN1, CST complex subunit gene (STN1, 613128.0001);

Laboratory abnormalities : Increased apoptosis; Telomere defects; Fibroblasts show premature senescence; Defective DNA damage response and repair;

Prefixed ID : #617341;

Details

Origin ID

617341;

UMLS CUI

C4479220;

Genes related to phenotype
- Stn1, cst complex subunit [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dystonia [HPO term]
- Esophageal varix [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Growth delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Osteopenia [HPO term]
- Pancytopenia [HPO term]
- Portal hypertension [HPO term]
- Premature graying of hair [HPO term]
- Retinal telangiectasia [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Coats plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients