Pontocerebellar hypoplasia, type 4

Preferred Label : Pontocerebellar hypoplasia, type 4;

Symbol : PCH4;

CISMeF acronym : PCH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 4 (PCH4) is characterized by severe course and early lethality (Budde et al., 2008). 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 54 gene (TSEN54, 608755.0001);

Prefixed ID : #225753;

Détails

Origin ID

225753;

UMLS CUI

C1856974;

CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 4 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar hypoplasia type 4 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
- pontocerebellar hypoplasia type 4 [DO Concept]
- pontocerebellar hypoplasia type 4 [Disease (Nov.)]
- young McKeever squier syndrome [MeSH concept]
- young McKeever squier syndrome [MeSH Supplementary Concept]
DO Cross reference
- pontocerebellar hypoplasia type 4 [DO Concept]
Genes related to phenotype
- Trna splicing endonuclease, subunit 54 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital contracture [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Gliosis [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the pons [HPO term]
- Infantile encephalopathy [HPO term]
- Loss of Purkinje cells in the cerebellar vermis [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Polyhydramnios [HPO term]
- Pontocerebellar hypoplasia [HPO term]
- Respiratory failure [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 4 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
- pontocerebellar hypoplasia type 4 [DO Concept]
- pontocerebellar hypoplasia type 4 [Disease (Nov.)]
- young McKeever squier syndrome [MeSH Supplementary Concept]
- young McKeever squier syndrome [MeSH concept]

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