Pontocerebellar hypoplasia, type 5

Preferred Label : Pontocerebellar hypoplasia, type 5;

Symbol : PCH5;

CISMeF acronym : PCH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Olivopontocerebellar hypoplasia, fetal-onset;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. For a phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia, see PCH1 (607596).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA splicing endonuclease, subunit 54 gene (TSEN54, 608755.0001);

Prefixed ID : #610204;

Details

Origin ID

610204;

UMLS CUI

C1857762;

CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 5 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Olivopontocerebellar hypoplasia, fetal-onset [MeSH concept]
- Pontocerebellar hypoplasia type 5 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 5 [ORDO Disease]
- olivopontocerebellar hypoplasia, fetal-onset [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 5 [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 5 [DO Concept]
Genes related to phenotype
- Trna splicing endonuclease, subunit 54 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Microcephaly [HPO term]
- Olivopontocerebellar hypoplasia [HPO term]
- Olivopontocerebellar hypoplasia, severe [HPO term]
- Pontocerebellar hypoplasia [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 5 (disorder) [SNOMED CT concept]
- Olivopontocerebellar hypoplasia, fetal-onset [MeSH concept]
- Pontocerebellar hypoplasia type 5 [ORDO Disease]
- olivopontocerebellar hypoplasia, fetal-onset [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 5 [DO Concept]

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