Pontocerebellar hypoplasia, type 6

Preferred Label : Pontocerebellar hypoplasia, type 6;

Symbol : PCH6;

CISMeF acronym : PCH6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalopathy, fatal infantile, with mitochondrial respiratory chain defects;

Description : Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007). 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 mitochondrial arginyl-tRNA synthetase gene (RARS2, 611524.0001);

Laboratory abnormalities : Increased serum lactate; Increased CSF lactate;

Prefixed ID : #611523;

Details

Origin ID

611523;

UMLS CUI

C1969084;

CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 6 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar Hypoplasia Type 6 [MeSH concept]
- Pontocerebellar hypoplasia type 6 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
- pontocerebellar hypoplasia type 6 [DO Concept]
- pontocerebellar hypoplasia type 6 [MeSH Supplementary Concept]
DO Cross reference
- pontocerebellar hypoplasia type 6 [DO Concept]
Genes related to phenotype
- Arginyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Apnea [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Death in childhood [HPO term]
- Deeply set eye [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Lower limb spasticity [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Narrow palate [HPO term]
- Poor head control [HPO term]
- Poor suck [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Prominent nasal bridge [HPO term]
- Seizure [HPO term]
- Upper limb spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 6 (disorder) [SNOMED CT concept]
- Pontocerebellar Hypoplasia Type 6 [MeSH concept]
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
- pontocerebellar hypoplasia type 6 [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 6 [DO Concept]

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