Pontocerebellar hypoplasia, type 1b

Preferred Label : Pontocerebellar hypoplasia, type 1b;

Symbol : PCH1B;

CISMeF acronym : PCH1B;

Type : Phenotype, molecular basis known;

Description : Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the exosome component 3 gene (EXOSC3, 606489.0001);

Prefixed ID : #614678;

Details

Origin ID

614678;

UMLS CUI

C3553449;

Currated CISMeF NLP mapping
- Pontocerebellar Hypoplasia Type 1B [NCIt concept]
- pontocerebellar hypoplasia type 1B [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 1B [DO Concept]
Genes related to phenotype
- Exosome component 3 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar cyst [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hip dislocation [HPO term]
- Hyperreflexia [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Poor head control [HPO term]
- Progressive microcephaly [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal dystrophy [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Tongue atrophy [HPO term]
- Tongue fasciculations [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pontocerebellar Hypoplasia Type 1B [NCIt concept]
- pontocerebellar hypoplasia type 1B [DO Concept]

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