Pontocerebellar hypoplasia, type 2b

Preferred Label : Pontocerebellar hypoplasia, type 2b;

Symbol : PCH2B;

CISMeF acronym : PCH2B;

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 (TSEN2, 608753.0001);

Prefixed ID : #612389;

Details

Origin ID

612389;

UMLS CUI

C2676466;

Broader ORDO disease(s)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- pontocerebellar hypoplasia type 2B [DO Concept]
- pontocerebellar hypoplasia type 2B [MeSH concept]
- pontocerebellar hypoplasia type 2B [MeSH Supplementary Concept]
DO Cross reference
- pontocerebellar hypoplasia type 2B [DO Concept]
Genes related to phenotype
- Trna splicing endonuclease, subunit 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Clonus [HPO term]
- Congenital onset [HPO term]
- Dystonia [HPO term]
- Extrapyramidal dyskinesia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Limb hypertonia [HPO term]
- Microcephaly [HPO term]
- Opisthotonus [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [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 2B [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2B [MeSH concept]
- pontocerebellar hypoplasia type 2B [DO Concept]

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