{"orpha":2524,"name":"Pontocerebellar hypoplasia type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH2"],"definition":"A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2524/","orphanet_url":"https://www.orpha.net/en/disease/detail/2524","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 2","synonyms":["HPC2","PCH2"],"definition":"Forme rare d'hypoplasie pontocérébelleuse d'origine génétique caractérisée par une hypoplasie pontocérébelleuse et une atrophie néocorticale progressive dont les signes cliniques sont des difficultés de coordination succion/déglutition et un clonus généralisé chez le nouveau-né. Dans la petite enfance, on observe une spasticité, une chorée/dyskinésie, des crises d'épilepsie et une microcéphalie progressive. Le développement de la motricité volontaire est insuffisant."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 2","synonyms":["PCH2"],"definition":"Eine seltene angeborene Form der pontozerebellären Hypoplasie, die durch eine pontozerebelläre Hypoplasie und eine progressive neokortikale Atrophie gekennzeichnet ist und sich klinisch durch unkoordiniertes Saugen und Schlucken und einen generalisierten Klonus bei Neugeborenen äußert. In der frühen Kindheit entwickeln sich Spastik, Chorea/Dyskinesie, Krampfanfälle und progressive Mikrozephalie. Die willkürliche motorische Entwicklung ist unzureichend."},"es":{"name":"Hipoplasia pontocerebelosa tipo 2","synonyms":["HPC2"],"definition":"Es una forma de hipoplasia pontocerebelosa poco frecuente y de base genética caracterizada por hipoplasia pontocerebelosa y atrofia neocortical progresiva que se manifiesta clínicamente con descoordinación de la succión y la deglución, y clonus generalizado en el neonato. En la primera infancia, se desarrolla espasticidad, corea/discinesia, crisis epilépticas y microcefalia progresiva. No hay desarrollo del control motor voluntario."},"it":{"name":"Ipoplasia pontocerebellare, tipo 2","synonyms":["PCH2"],"definition":"L'ipoplasia pontocerebellare di tipo 2 (PCH2) è forma genetica rara di ipoplasia pontocerebellare, caratterizzata da ipoplasia pontocerebellare e atrofia neocorticale progressiva che si manifesta, dal punto di vista clinico, nel neonato, con suzione e deglutizione non coordinate e clonie generalizzate. Nella prima infanzia i pazienti sviluppano spasticità, corea/discinesia, crisi epilettiche e microcefalia progressiva. È assente lo sviluppo motorio volontario."},"nl":{"name":"Pontocerebellaire hypoplasie type 2","synonyms":["PCH2"],"definition":"Een zeldzame, genetische vorm van pontocerebellaire hypoplasie, gekenmerkt door pontocerebellaire hypoplasie en progressieve neocorticale atrofie die zich klinisch manifesteert met ongecoördineerd zuigen en slikken, en gegeneraliseerde clonus bij neonaten. In de vroege kindertijd ontwikkelen zich spasticiteit, chorea/dyskinesie, insulten, en progressieve microcefalie. Ontwikkeling van vrijwillige motoriek ontbreekt."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 2"},"pl":{"name":"Hipoplazja mostu i móżdżku typu 2","synonyms":["PCH2"],"definition":"PCH2 jest na ogół spowodowana mutacjami homozygotycznymi w genie TSEN54 (17q25.1), najczęściej mutacją założycielską, występującą w rodzinach pochodzenia europejskiego: p.A307S/A307S lub mutacjami typu zmiany sensu. Rzadziej zgłaszano mutacje w genach TSEN2 (3p25.2), TSEN34 (19q13.42), TSEN15 (1q25.3), SEPSECS (4p15.2) lub VPS53 (17p13.3)."},"cs":{"name":"Pontocerebelární hypoplázie, typ 2","synonyms":["PCH2"]},"uk":{"name":"Гіпоплазія мозочка, тип 2","synonyms":["PCH2"],"definition":"A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking."},"zh":{"name":"脑桥小脑发育不全2型","synonyms":["PCH2"]},"tr":{"name":"Pontoserebellar hipoplazi tip 2","synonyms":["PCH2"]}},"xrefs":[{"source":"OMIM","code":"277470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612389","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613811","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617026","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1158649247"},{"source":"MONDO","code":"0016759","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2932714","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]},{"orpha":207012,"name":"Spinal muscular atrophy associated with central nervous system anomaly","classifications":[156,181]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":81.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-10","source":"23562994[PMID]_20301773[PMID]","terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006850","label":"Hypoplasia of the ventral pons","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031162","label":"Impaired oropharyngeal swallow response","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002268","label":"Paroxysmal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200049","label":"Upper limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003558","label":"Viral infection-induced rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012765","label":"Widened cerebellar subarachnoid space","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Excluded (0%)","criteria":null}]}}