{"orpha":98523,"name":"Pontocerebellar hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PCH","Pontoneocerebellar atrophy","Pontoneocerebellar hypoplasia"],"definition":"A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98523/","orphanet_url":"https://www.orpha.net/en/disease/detail/98523","names":{"fr":{"name":"Hypoplasie pontocérébelleuse","synonyms":["HPC","Hypoplasie pontonéocérébelleuse"],"definition":"Groupe rare de maladies neurodégénératives à début prénatal caractérisé par une hypoplasie et/ou une atrophie du cervelet et du pont de Varole. L'atteinte des structures supratentorielles est inconstante. De nombreuses formes ont été décrites en fonction de la sévérité, de l'âge auquel la maladie se déclare et de la présentation clinique."},"de":{"name":"Pontozerebelläre Hypoplasie","synonyms":["PCH","Pontozerebelläre Atrophie"],"definition":"Eine seltene Gruppe neurodegenerativer Erkrankungen mit pränatalem Beginn, die durch Hypoplasie und/oder Atrophie von Kleinhirn und Pons gekennzeichnet sind. Die Beteiligung der supratentoriellen Strukturen ist unterschiedlich. Je nach Schweregrad, Alter des Ausbruchs und klinischem Erscheinungsbild sind mehrere Formen beschrieben worden."},"es":{"name":"Hipoplasia pontocerebelosa","synonyms":["PCH","Atrofia pontoneocerebelosa","HPC","Hipoplasia pontoneocerebelosa"],"definition":"Es un grupo poco frecuente de trastornos neurodegenerativos de aparición prenatal caracterizados por hipoplasia y/o atrofia del cerebelo y la protuberancia. La afectación de las estructuras supratentoriales es variable. Se ha descrito múltiples formas en función de la gravedad, la edad de inicio y la presentación clínica."},"it":{"name":"Ipoplasia pontocerebellare","synonyms":["Atrofia pontoneocerebellare","Ipoplasia pontoneocerebellare","PCH"],"definition":"Si tratta di un gruppo di malattie neurodegenerative rare ad esordio prenatale, caratterizzate da ipoplasia e/o atrofia del cervelletto e del ponte. Il coinvolgimento delle strutture sopratentoriali è variabile. Sono state descritte diverse forme differenziate in base alla gravità, all'età d'esordio e al quadro clinico."},"nl":{"name":"Pontocerebellaire hypoplasie","synonyms":["Pontoneocerebellaire hypoplasie","PCH","Pontoneocerebellaire atrofie"],"definition":"Een zeldzame groep van neurodegeneratieve aandoeningen met prenatale aanvang, gekarakteriseerd door hypoplasie een/of atrofie van cerebellum en pons. Betrokkenheid van supratentoriële structuren is variabel. Er werden meerdere vormen beschreven op basis van ernst, aanvangsleeftijd, en klinische presentatie."},"pt":{"name":"Hipoplasia pontocerebelosa não sindromática","synonyms":["Atrofia pontoneocerebelosa","Hipoplasia pontoneocerebelosa","PHC"]},"pl":{"name":"Niesyndromiczna hipoplazja mostowo-móżdżkowa","synonyms":["Atrofia mostowo-móżdżkowa","Hipoplazja mostowo-móżdżkowa","PCH"]},"cs":{"name":"Nesyndromická pontocerebelární hypoplázie","synonyms":["PCH","Pontoneocerebelární atrofie","Pontoneocerebelární hypoplázie"]},"uk":{"name":"Несиндромна гіпоплазія мозочка","synonyms":["PCH","Понтонеоцеребеллярна атрофія","Понтонеоцеребеллярна гіпоплазія"],"definition":"A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation."},"zh":{"name":"非综合征型脑桥小脑发育不全","synonyms":["脑桥小脑发育不全"],"definition":"非综合征性脑桥小脑发育不良(PCH)是一种罕见的异质性疾病，以小脑和桥脑发育不良、萎缩和/或早期神经变性为特征。已报道了8个亚型，命名为1-8型(见该类词条)，通常以常染色体隐性遗传方式遗传。"},"tr":{"name":"Sendromik olmayan pontocerebellar hipoplazi","synonyms":["PCH","Pontoneoserebellar atrofi","Pontoneocerebllar hipoplazi"]}},"xrefs":[{"source":"ICD-11","code":"LD20.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1565266279"},{"source":"MONDO","code":"0020135","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1261175","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10977","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":728528,"name":"Pontocerebellar hypoplasia and related disorders","classifications":[147,156,181]}],"children":[{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1","type":"Clinical subtype"},{"orpha":411493,"name":"Pontocerebellar hypoplasia type 10","type":"Clinical subtype"},{"orpha":611247,"name":"Pontocerebellar hypoplasia type 11","type":"Clinical subtype"},{"orpha":611256,"name":"Pontocerebellar hypoplasia type 12","type":"Clinical subtype"},{"orpha":613267,"name":"Pontocerebellar hypoplasia type 13","type":"Clinical subtype"},{"orpha":613274,"name":"Pontocerebellar hypoplasia type 14","type":"Clinical subtype"},{"orpha":728514,"name":"Pontocerebellar hypoplasia type 16","type":"Clinical subtype"},{"orpha":728521,"name":"Pontocerebellar hypoplasia type 17","type":"Clinical subtype"},{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2","type":"Clinical subtype"},{"orpha":97249,"name":"Pontocerebellar hypoplasia type 3","type":"Clinical subtype"},{"orpha":166063,"name":"Pontocerebellar hypoplasia type 4","type":"Clinical subtype"},{"orpha":166073,"name":"Pontocerebellar hypoplasia type 6","type":"Clinical subtype"},{"orpha":284339,"name":"Pontocerebellar hypoplasia type 7","type":"Clinical subtype"},{"orpha":324569,"name":"Pontocerebellar hypoplasia type 8","type":"Clinical subtype"},{"orpha":369920,"name":"Pontocerebellar hypoplasia type 9","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"AMPD2","name":"adenosine monophosphate deaminase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23911318[PMID]","hgnc":"469","ensembl":"ENSG00000116337","omim":"102771","loci":["1p13.3"],"via":{"orpha":369920,"name":"Pontocerebellar hypoplasia type 9"}},{"symbol":"CHMP1A","name":"charged multivesicular body protein 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23023333[PMID]","hgnc":"8740","ensembl":"ENSG00000131165","omim":"164010","loci":["16q24.3"],"via":{"orpha":324569,"name":"Pontocerebellar hypoplasia type 8"}},{"symbol":"CLP1","name":"cleavage factor polyribonucleotide kinase subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24766809[PMID]_24766810[PMID]","hgnc":"16999","ensembl":"ENSG00000172409","omim":"608757","loci":["11q12.1"],"via":{"orpha":411493,"name":"Pontocerebellar hypoplasia type 10"}},{"symbol":"PRDM13","name":"PR/SET domain 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35390279[PMID]","hgnc":"13998","ensembl":"ENSG00000112238","omim":"616741","loci":["6q16.2"],"via":{"orpha":728521,"name":"Pontocerebellar hypoplasia type 17"}},{"symbol":"SLC25A46","name":"solute carrier family 25 member 46","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28637197[PMID]","hgnc":"25198","ensembl":"ENSG00000164209","omim":"610826","loci":["5q22.1"],"via":{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1"}},{"symbol":"TOE1","name":"target of EGR1, exonuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28092684[PMID]","hgnc":"15954","ensembl":"ENSG00000132773","omim":"613931","loci":["1p34.1"],"via":{"orpha":284339,"name":"Pontocerebellar hypoplasia type 7"}},{"symbol":"TSEN15","name":"tRNA splicing endonuclease subunit 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27392077[PMID]","hgnc":"16791","ensembl":"ENSG00000198860","omim":"608756","loci":["1q25.3"],"via":{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2"}},{"symbol":"AGTPBP1","name":"ATP/GTP binding carboxypeptidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30976113[PMID]","hgnc":"17258","ensembl":"ENSG00000135049","omim":"606830","loci":["9q21.33"],"via":{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1"}},{"symbol":"COASY","name":"Coenzyme A synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30089828[PMID]_36495139[PMID]","hgnc":"29932","ensembl":"ENSG00000068120","omim":"609855","loci":["17q21.2"],"via":{"orpha":611256,"name":"Pontocerebellar hypoplasia type 12"}},{"symbol":"EXOSC3","name":"exosome component 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22544365[PMID]_25144110[PMID]","hgnc":"17944","ensembl":"ENSG00000107371","omim":"606489","loci":["9p13.2"],"via":{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1"}},{"symbol":"EXOSC8","name":"exosome component 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24989451[PMID]","hgnc":"17035","ensembl":"ENSG00000120699","omim":"606019","loci":["13q13.3"],"via":{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1"}},{"symbol":"EXOSC9","name":"exosome component 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29727687[PMID]","hgnc":"9137","ensembl":"ENSG00000123737","omim":"606180","loci":["4q27"],"via":{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1"}},{"symbol":"MINPP1","name":"multiple inositol-polyphosphate phosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33168985[PMID]","hgnc":"7102","ensembl":"ENSG00000107789","omim":"605391","loci":["10q23.2"],"via":{"orpha":728514,"name":"Pontocerebellar hypoplasia type 16"}},{"symbol":"PCLO","name":"piccolo presynaptic cytomatrix protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25832664[PMID]","hgnc":"13406","ensembl":"ENSG00000186472","omim":"604918","loci":["7q21.11"],"via":{"orpha":97249,"name":"Pontocerebellar hypoplasia type 3"}},{"symbol":"RARS2","name":"arginyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"21406","ensembl":"ENSG00000146282","omim":"611524","loci":["6q15"],"via":{"orpha":166073,"name":"Pontocerebellar hypoplasia type 6"}},{"symbol":"SEPSECS","name":"Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20920667[PMID]","hgnc":"30605","ensembl":"ENSG00000109618","omim":"613009","loci":["4p15.2"],"via":{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2"}},{"symbol":"TSEN2","name":"tRNA splicing endonuclease subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23562994[PMID]","hgnc":"28422","ensembl":"ENSG00000154743","omim":"608753","loci":["3p25.2"],"via":{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2"}},{"symbol":"TSEN34","name":"tRNA splicing endonuclease subunit 34","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18711368[PMID]","hgnc":"15506","ensembl":"ENSG00000170892","omim":"608754","loci":["19q13.42"],"via":{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2"}},{"symbol":"TSEN54","name":"tRNA splicing endonuclease subunit 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301773[PMID]","hgnc":"27561","ensembl":"ENSG00000182173","omim":"608755","loci":["17q25.1"],"via":{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2"}},{"symbol":"TSEN54","name":"tRNA splicing endonuclease subunit 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"27561","ensembl":"ENSG00000182173","omim":"608755","loci":["17q25.1"],"via":{"orpha":166063,"name":"Pontocerebellar hypoplasia type 4"}},{"symbol":"VRK1","name":"VRK serine/threonine kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19646678[PMID]","hgnc":"12718","ensembl":"ENSG00000100749","omim":"602168","loci":["14q32.2"],"via":{"orpha":2254,"name":"Pontocerebellar hypoplasia type 1"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}