Cystinosis, adult nonnephropathic

Preferred Label : Cystinosis, adult nonnephropathic;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystinosis, ocular nonnephropathic; Cystinosis, benign nonnephropathic;

Description : Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis (219800), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by Anikster et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cystinosin gene (CTNS, 219800.0009);

Prefixed ID : #219750;

Details

Origin ID

219750;

UMLS CUI

C2931013;

Automatic exact mappings (from CISMeF team)
- Cystinosis [ORDO Disease]
- Cystinosis, ocular nonnephropathic [MeSH concept]
- Ocular cystinosis [ORDO Disease]
- cystinosis, ocular nonnephropathic [MeSH Supplementary Concept]
DO Cross reference
- cystinosis [DO Concept]
Genes related to phenotype
- Cystinosin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal crystals [HPO term]
- Photophobia [HPO term]
Not associated HPO term(s)
- Abnormal retinal morphology [HPO term]
- Abnormality of the urinary system [HPO term]
- Retinopathy [HPO term]
ORDO concept(s)
- Cystinosis [ORDO Disease]
- Ocular cystinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinosis, ocular nonnephropathic [MeSH concept]
- Ocular cystinosis [ORDO Disease]
- cystinosis, ocular nonnephropathic [MeSH Supplementary Concept]

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