Pontocerebellar hypoplasia, type 1a

Preferred Label : Pontocerebellar hypoplasia, type 1a;

Symbol : PCH1A;

CISMeF acronym : PCH1A; PCH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pontocerebellar hypoplasia with anterior horn cell disease; PCH1; Pontocerebellar hypoplasia with infantile spinal muscular atrophy;

Description : Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early. In PCH type 2 (see PCH2A, 277470), there is progressive microcephaly from birth combined with extrapyramidal dyskinesias. PCH3 (608027) is characterized by hypotonia, hyperreflexia, microcephaly, optic atrophy, and seizures. PCH4 (225753) is characterized by hypertonia, joint contractures, olivopontocerebellar hypoplasia, and early death. Patients with PCH5 (610204) have cerebellar hypoplasia apparent in the second trimester and show seizures. PCH6 (611523) is associated with mitochondrial respiratory chain defects (summary by Graham et al., 2010). Also see PCH7 (614969) and PCH8 (614961). - Genetic Heterogeneity of Pontocerebellar Hypoplasia PCH1B (614678) is caused by mutation in the EXOSC3 gene (606489), PCH2A (277470) is caused by mutation in the TSEN54 gene (608755), PCH2B (612389) is caused by mutation in the TSEN2 gene (608753), PCH2C (612390) is caused by mutation in the TSEN34 gene (608754), and PCH2D (613811) is caused by mutation in the SEPSECS gene (613009). PCH4 (225753) is caused by mutation in the TSEN54 gene (608755), PCH6 (611523) is caused by mutation in the RARS2 gene (611524), and PCH8 (614961) is caused by mutation in the CHMP1A gene (164010). PCH3 (608027) has been mapped to chromosome 7q11-q21. PCH5 (610204) and PCH7 (614969) have not yet been mapped.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vaccinia-related kinase 1 gene (VRK1, 602168.0001);

Prefixed ID : #607596;

Details

Origin ID

607596;

UMLS CUI

C1843504;

Currated CISMeF NLP mapping
- Congenital pontocerebellar hypoplasia type 1 (disorder) [SNOMED CT concept]
- Pontocerebellar Hypoplasia Type 1 [MeSH concept]
- Pontocerebellar hypoplasia type 1 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
- pontocerebellar hypoplasia type 1 [MeSH Supplementary Concept]
DO Cross reference
- pontocerebellar hypoplasia type 1A [DO Concept]
Genes related to phenotype
- Vrk serine/threonine kinase 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia gliosis [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital contracture [HPO term]
- Congenital onset [HPO term]
- Degeneration of anterior horn cells [HPO term]
- EMG: neuropathic changes [HPO term]
- Fasciculations [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypoplasia of the ventral pons [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Muscle weakness [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in basal ganglia [HPO term]
- Pontocerebellar hypoplasia [HPO term]
- Progressive [HPO term]
- Psychomotor retardation [HPO term]
- Respiratory insufficiency [HPO term]
- Spinal muscular atrophy [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 1 (disorder) [SNOMED CT concept]
- Pontocerebellar Hypoplasia Type 1 [MeSH concept]
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
- pontocerebellar hypoplasia type 1 [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- pontocerebellar hypoplasia type 1A [DO Concept]

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