Pontocerebellar Hypoplasia, Type 6 (PCH6)

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Disease Ontology 12 DOID:0060275 OMIM 56 611523 OMIM Phenotypic Series 56 PS607596 MeSH 43 C548074 D002526 MESH via Orphanet 44 C548074 ICD10 via Orphanet 33 Q04.3

UMLS via Orphanet 72 C1969084 Orphanet 58 ORPHA166073 MedGen 41 C1969084 SNOMED-CT via HPO 68 1023001 128613002 16026008 224958001 246545002 246923005 248583008 252157006 255314001 258211005 278849000 313307000 36440009 394679006 394680009 418143002 432788009 52522001 80093006 84757009 86854008 91175000 95646004 more UMLS 71 C1969084

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166073 Definition Pontocerebellar 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. Epidemiology PCH6 is reported in less than 10 cases to date Clinical description PCH6 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. Etiology PCH6 is caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2 ) gene located to 6q16.1. Diagnostic methods MRI 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. Prognosis Prognosis 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 microcephaly, 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

Disease Ontology : ¹² A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has material basis in autosomal recessive inheritance of mutation in the RARS2 gene.

OMIM : ⁵⁶ 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 : ⁷³ 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.