PCH6
MCID: PNT036
MIFTS: 46
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Pontocerebellar Hypoplasia, Type 6 (PCH6)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 6:
Characteristics:Orphanet epidemiological data:58
pontocerebellar hypoplasia type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder death in childhood may occur onset at birth or in first days or life HPO:31
pontocerebellar hypoplasia, type 6:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity progressive congenital onset death in childhood Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166073DefinitionPontocerebellar 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 3-methylglutaconic aciduria, type iii and pontocerebellar hypoplasia, 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, brain and pons, and related phenotypes are hyperreflexia and failure to thrive 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® : 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) (Updated 05-Mar-2021) 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. |
Human phenotypes related to Pontocerebellar Hypoplasia, Type 6:31 (show all 22)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:611523 (Updated 05-Mar-2021)UMLS symptoms related to Pontocerebellar Hypoplasia, Type 6:seizures, apnea |
Cochrane evidence based reviews: pontocerebellar hypoplasia type 6 |
MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 6:40
Cerebellum,
Brain,
Pons,
Eye
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Articles related to Pontocerebellar Hypoplasia, Type 6:(show all 20)
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ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 6:6 (show top 50) (show all 81)
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Pathways related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:
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Cellular components related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:
Biological processes related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:
Molecular functions related to Pontocerebellar Hypoplasia, Type 6 according to GeneCards Suite gene sharing:
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