Pontocerebellar hypoplasia, type 8

Preferred Label : Pontocerebellar hypoplasia, type 8;

Symbol : PCH8;

CISMeF acronym : PCH8;

Type : Phenotype, molecular basis known;

Description : Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CHMP family, member 1A gene (CHMP1A, 164010.0001);

Prefixed ID : #614961;

Details

Origin ID

614961;

UMLS CUI

C3554209;

Currated CISMeF NLP mapping
- Congenital pontocerebellar hypoplasia type 8 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 8 [ORDO Disease]
- pontocerebellar hypoplasia type 8 [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 8 [DO Concept]
Genes related to phenotype
- Charged multivesicular body protein 1a [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral visual impairment [HPO term]
- Chorea [HPO term]
- Congenital onset [HPO term]
- Dysphagia [HPO term]
- Esotropia [HPO term]
- Flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Poor speech [HPO term]
- Secondary microcephaly [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Talipes valgus [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 8 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 8 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 8 [ORDO Disease]
- pontocerebellar hypoplasia type 8 [DO Concept]

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