Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development

Preferred Label : Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development;

Symbol : CASGID;

CISMeF acronym : CASGID;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glutaminase gene (GLS, 138280.0004);

Laboratory abnormalities : Increased glutamate in urine, fibroblasts, and brain; Decreased glutamine in urine, fibroblasts, and brain;

Prefixed ID : #618339;

Details

Origin ID

618339;

UMLS CUI

C5193037;

Genes related to phenotype
- Glutaminase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed myelination [HPO term]
- Hyperkeratosis [HPO term]
- Secondary microcephaly [HPO term]
- Self-injurious behavior [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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