Pontocerebellar hypoplasia, type 2d

Preferred Label : Pontocerebellar hypoplasia, type 2d;

Symbol : PCH2D;

CISMeF acronym : PCCA; PCH2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PCCA; Cerebellocerebral atrophy, progressive;

Description : PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the O-phosphoserine tRNA-selenocysteine tRNA synthase gene (SEPSECS, 613009.0001);

Prefixed ID : #613811;

Details

Origin ID

613811;

UMLS CUI

C3151140;

Automatic exact mappings (from CISMeF team)
- propionyl-CoA carboxylase subunit alpha [ORDO Gene]
Currated CISMeF NLP mapping
- Progressive cerebello-cerebral atrophy (disorder) [SNOMED CT concept]
- pontocerebellar hypoplasia type 2D [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 2D [DO Concept]
False automatic mappings
- 6-propylchromone-2-carboxylic acid [MeSH concept]
- 6-propylchromone-2-carboxylic acid [MeSH Supplementary Concept]
Genes related to phenotype
- O-phosphoserine trna-selenocysteine trna synthase [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Clonus [HPO term]
- Delayed myelination [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Irritability [HPO term]
- Limb joint contracture [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spastic tetraplegia [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
See also inter- (CISMeF)
- Progressive cerebello-cerebral atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive cerebello-cerebral atrophy (disorder) [SNOMED CT concept]
- pontocerebellar hypoplasia type 2D [DO Concept]

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