Gillespie syndrome

Preferred Label : Gillespie syndrome;

Symbol : GLSP;

CISMeF acronym : GLSP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aniridia, cerebellar ataxia, and mental retardation;

Inheritance : Autosomal dominant; Autosomal recessive (in some patients);

Molecular basis : Caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (ITPR1, 147265.0005);

Prefixed ID : #206700;

Details

Origin ID

206700;

UMLS CUI

C0431401;

Automatic exact mappings (from CISMeF team)
- Gillespie syndrome [MedDRA LLT]
- Gillespie syndrome [DO Concept]
Currated CISMeF NLP mapping
- Aniridia cerebellar ataxia mental deficiency [MeSH concept]
- Aniridia-cerebellar ataxia-intellectual disability syndrome [ORDO Disease]
- Gillespie syndrome (disorder) [SNOMED CT concept]
- aniridia cerebellar ataxia mental deficiency [MeSH Supplementary Concept]
- oculodentodigital syndrome [Disease (Nov.)]
DO Cross reference
- Gillespie syndrome [DO Concept]
Genes related to phenotype
- Inositol 1,4,5-triphosphate receptor, type 1 [OMIM gene]
HPO term(s)
- Aniridia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Hypoplasia of the iris [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Postural tremor [HPO term]
- Slurred speech [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Aniridia-cerebellar ataxia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aniridia cerebellar ataxia mental deficiency [MeSH concept]
- Aniridia-cerebellar ataxia-intellectual disability syndrome [ORDO Disease]
- Gillespie syndrome [DO Concept]
- Gillespie syndrome [MedDRA LLT]
- Gillespie syndrome (disorder) [SNOMED CT concept]
- aniridia cerebellar ataxia mental deficiency [MeSH Supplementary Concept]

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