Pontocerebellar hypoplasia, type 2c

Preferred Label : Pontocerebellar hypoplasia, type 2c;

Symbol : PCH2C;

CISMeF acronym : PCH2C;

Type : Phenotype, molecular basis known;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA splicing endonuclease, subunit 2 gene (TSEN34, 608754.0001);

Prefixed ID : #612390;

Détails

Origin ID

612390;

UMLS CUI

C2676465;

Broader ORDO disease(s)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- pontocerebellar hypoplasia type 2C [DO Concept]
- pontocerebellar hypoplasia type 2C [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2C [MeSH concept]
DO Cross reference
- pontocerebellar hypoplasia type 2C [DO Concept]
Genes related to phenotype
- Trna splicing endonuclease, subunit 34 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hemisphere hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chorea [HPO term]
- Dystonia [HPO term]
- Microcephaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pontocerebellar hypoplasia type 2C [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2C [MeSH concept]
- pontocerebellar hypoplasia type 2C [DO Concept]

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