{"orpha":411493,"name":"Pontocerebellar hypoplasia type 10","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CLP1-related pontocerebellar hypoplasia","PCH10"],"definition":"A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411493/","orphanet_url":"https://www.orpha.net/en/disease/detail/411493","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 10","synonyms":["HPC10","Hypoplasie pontocérébelleuse due à une mutation du gène CLP1","PCH10"],"definition":"Sous-type génétique rare d'hypoplasie pontocérébelleuse caractérisé par un retard sévère du développement psychomoteur, une microcéphalie et une spasticité progressives, des crises d'épilepsie et des anomalies cérébrales consistant en une légère atrophie cérébeleuse, pontique et du corps calleux et en une atrophie corticale avec retard de myélinisation. Les patients peuvent présenter des traits faciaux dysmorphiques (sourcils très arqués, yeux exorbités, fentes palpébrales et cils longs, racine nasale large et hypoplasie des ailes du nez) et une neuropathie sensitivomotrice axonale."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 10","synonyms":["Pontozerebelläre Hypoplasie, CLP1-abhängige"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 10","synonyms":["HPC10","Hipoplasia pontocerebelosa asociada a CLP1"],"definition":"La hipoplasia pontocerebelosa tipo 10 es un subtipo de hipoplasia pontocerebelosa, genética y poco frecuente, caracterizada por grave retraso del desarrollo psicomotor, microcefalia progresiva, espasticidad progresiva, convulsiones y anomalías cerebrales consistentes en leve atrofia del cerebelo, tronco cerebral y cuerpo calloso, y atrofia cortical con mielinización retardada. Los afectados pueden presentar características faciales dismórficas (cejas altas y arqueadas, hendiduras palpebrales y pestañas largas, ojos prominentes, raíz nasal ancha y fosas nasales hipoplásicas) así como neuropatía sensitivo-motora axonal."},"it":{"name":"Ipoplasia pontocerebellare tipo 10","synonyms":["Ipoplasia pontocerebellare da mutazione del gene CLP1","PCH10"],"definition":"L'ipoplasia pontocerebellare tipo 10 è un sottotipo genetico raro di ipoplasia pontocerebellare, caratterizzato da grave ritardo dello sviluppo psicomotorio, microcefalia progressiva, spasticità progressiva, crisi epilettiche ed anomalie cerebrali, che comprendono l'atrofia lieve del cervelletto e l'atrofia del ponte, del corpo calloso e della corteccia con ritardo della mielinizzazione. I pazienti possono presentare dismorfismi facciali (sopracciglia arcuate, occhi prominenti, rime palpebrali e ciglia lunghe, radice del naso ampia con ali ipoplastiche) e neuropatia sensitivo-motoria assonale."},"nl":{"name":"Pontocerebellaire hypoplasie type 10","synonyms":["PCH10","Pontocerebellaire hypoplasie als gevolg van CLP1-mutatie"],"definition":"Pontocerebellaire hypoplasie type 10 is een zeldzaam, genetisch subtype van pontocerebellaire hypoplasie dat gekarakteriseerd wordt door ernstige psychomotorische ontwikkelingsachterstand, progressieve microcefalie, progressieve spasticiteit, insulten, en afwijkingen van de hersenen bestaande uit milde atrofie van het cerebellum, de pons en het corpus callosum en corticale atrofie met vertraagde myelinisatie. Patiënten kunnen zich presenteren met dysmorfe gelaatskenmerken (hoog gebogen wenkbrauwen, uitgesproken ogen, lange ooglidspleten en wimpers, brede neuswortel, en hypoplastische neusvleugels) en een axonale sensomotorische neuropathie."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 10"},"pl":{"name":"Hipoplazja mostowo-móżdzkowa typu 10","synonyms":["Hipoplazja mostowo-móżdzkowa z powodu mutacji CLP1","PCH10"],"definition":"*Hipoplazja mostowo-móżdzkowa typu 10 jest rzadkim, genetycznie uwarunkowanym podtypem hipoplazji mostowo-móżdżkowej, który charakteryzuje się ciężkim opóźnieniem rozwoju psychoruchowego, postępującym małogłowiem, postępującą spastycznością, napadami drgawkowymi i nieprawidłowościami mózgu, w tym łagodnym zanikiem móżdżku, mostu i ciała modzelowatego oraz zanikiem kory mózgowej z opóźnioną mielizną. Mogą wystąpić cechy dysmorfii twarzy (łukowate brwi, wyłupiaste oczy, długie szpary powiekowe i długie rzęsy, szeroka nasada nosa i hipoplastyczne skrzydełka nosa) oraz aksonalna neuropatia czuciowo-ruchowa."},"cs":{"name":"Pontocerebelární hypoplázie, typ 10","synonyms":["CLP1-vázaná pontocerebelární hypoplázie","PCH10"]},"uk":{"name":"Гіпоплазія мозочка, тип 10","synonyms":["Гіпоплазія мозочка, повязана з CLP1","PCH10"],"definition":"A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy."},"zh":{"name":"脑桥小脑发育不全10型","synonyms":["CLP1相关的脑桥小脑发育不良"],"definition":"小脑脑桥发育不全10型是一种罕见的遗传性小脑脑桥发育不全亚型，其特征是严重的精神运动发育迟缓，进行性小头畸形，进行性痉挛，癫痫发作和脑畸形，包括小脑、脑桥和胼胝体的轻度萎缩以及髓鞘化延迟和皮层萎缩。患者可能表现出面部畸形（眉毛高拱，眼睛突出，睑裂和睫毛长，鼻根宽和鼻翼发育不良）和轴突感觉运动神经病。"},"tr":{"name":"Pontoserebellar hipoplazi tip 10","synonyms":["PCH10","CLP1-ilişkili pontoserebellar hipoplazi"]}},"xrefs":[{"source":"OMIM","code":"615803","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190575","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"24766809[PMID]_24766810[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24766809[PMID]_24766810[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-19","source":"24766809[PMID]_24766810[PMID]","terms":[{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009879","label":"Simplified gyral pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025405","label":"Visual fixation instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}