Pontocerebellar Hypoplasia, Type 6 (PCH6)

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OMIM 57 611523 Disease Ontology 12 DOID:0060275 MeSH 44 C548074 D009849 Orphanet 59 ORPHA166073 MESH via Orphanet 45 C548074

UMLS via Orphanet 74 C1969084 ICD10 via Orphanet 34 Q04.3 MedGen 42 C1969084 SNOMED-CT via HPO 69 258211005 15805002 246923005 80093006 128613002 246545002 313307000 84757009 91175000 224958001 95646004 16026008 86854008 36440009 432788009 278849000 418143002 52522001 394679006 1023001 248583008 252157006 255314001 394680009 more UMLS 73 C1969084

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166073Disease definitionPontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.EpidemiologyPCH6 is reported in less than 10 cases to dateClinical descriptionPCH6 is characterized clinically at birth by generalized hypotonia, lethargy and dysphagia. The clinical profile is characterized from infancy by a profound developmental delay, progressive microencephaly, hypotonia or spasticity treatment-resistant epilepsy.EtiologyPCH6 is caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1.Diagnostic methodsMRI demonstrates neocortical and more severe cerebral cortical atrophy (more severe than in other types of PCH), pontocerebellar hypoplasia with pons and cerebellum are equally affected. RARS2 mutation positive PCH6 patients can be screened by analysis of increased lactate in blood and cerebrospinal fluid. Biochemical analysis in muscle may demonstrate reduced activity of mitochondrial complexes I, III, and IV and normal activity of mitochondrial complex II.PrognosisPrognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 6, also known as pontocerebellar hypoplasia type 6, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 1a, and has symptoms including seizures and apnea. An important gene associated with Pontocerebellar Hypoplasia, Type 6 is RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include cerebellum, pons and eye, and related phenotypes are seizures and hyperreflexia

OMIM : ⁵⁷ 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). (611523)

UniProtKB/Swiss-Prot : ⁷⁵ Pontocerebellar hypoplasia 6: A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.

Clinical features from OMIM:

611523

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 6

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 6.