Pontocerebellar hypoplasia, type 2a

Preferred Label : Pontocerebellar hypoplasia, type 2a;

Symbol : PCH2A;

CISMeF acronym : PCH2A; PCH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pontocerebellar hypoplasia with progressive cerebral atrophy; Volendam neurodegenerative disease; PCH2;

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). - Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2 PCH2B (612389) is caused by mutation in the TSEN2 gene (608753) on chromosome 3p25, and PCH2C (612390) is caused by mutation in the TSEN34 gene (608754) on chromosome 19q13.4. PCH2D (613811) is caused by mutation in the SEPSECS gene (613009) on chromosome 4p15.2. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing,;

Inheritance : Autosomal recessive;

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

Prefixed ID : #277470;

Details

Origin ID

277470;

UMLS CUI

C1848526;

Automatic exact mappings (from CISMeF team)
- pontocerebellar hypoplasia type 2 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- pontocerebellar hypoplasia type 2A [DO Concept]
- pontocerebellar hypoplasia type 2A [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2A [MeSH concept]
DO Cross reference
- pontocerebellar hypoplasia type 2A [DO Concept]
Genes related to phenotype
- Trna splicing endonuclease, subunit 54 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Abnormal visual pursuit [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Congenital onset [HPO term]
- Death in childhood [HPO term]
- Extrapyramidal dyskinesia [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gliosis [HPO term]
- Hypoplasia of the pons [HPO term]
- Impaired smooth pursuit [HPO term]
- Microcephaly [HPO term]
- Opisthotonus [HPO term]
- Pontocerebellar hypoplasia [HPO term]
- Poor suck [HPO term]
- Progressive microcephaly [HPO term]
- Restlessness [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [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 2A [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2A [MeSH concept]
- pontocerebellar hypoplasia type 2A [DO Concept]
Validated automatic mappings to NTBT
- Pontocerebellar Hypoplasia Type 2 [NCIt concept]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]

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