{"orpha":163746,"name":"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neurologic Waardenburg-Shah syndrome","PCWH","WS4 plus"],"definition":"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163746/","orphanet_url":"https://www.orpha.net/en/disease/detail/163746","names":{"fr":{"name":"Syndrome de neuropathie périphérique-leucodystrophie centrale dysmyélinisante-syndrome de Waardenburg-maladie de Hirschsprung","synonyms":["PCWH","Syndrome de Waardenburg-Shah variante neurologique","WS4 plus"],"definition":"Une maladie systémique caractérisée par les manifestations du syndrome de Waardenburg-Shah associées à des signes neurologiques de sévérité variable."},"de":{"name":"Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit","synonyms":["PCWH","WS4 plus","Waardenburg-Shah-Syndrom, neurologische Variante"],"definition":"Periphere demyelinisierende Neuropathie mit zentraler dysmyelinisierender Leukodystrophie, Waardenburg-Syndrom und Hirschsprung-Krankheit (PCWH) ist eine systemische Erkrankung, die durch die Assoziation der Merkmale des Waardenburg-Shah-Syndroms (WSS) mit neurologischen Merkmalen unterschiedlichen Schweregrades gekennzeichnet ist."},"es":{"name":"Neuropatía periférica desmielinizante-leucodistrofia desmielinizante central-síndrome de Waardenburg-enfermedad de Hirschsprung","definition":"Es una enfermedad sistémica caracterizada por la asociación de las características del síndrome de Waardenburg-Shah (WSS) con características neurológicas de gravedad variable."},"it":{"name":"Neuropatia periferica demielinizzante-leucodistrofia centrale demielinizzante-sindrome di Waardenburg-malattia di Hirschsprung","synonyms":["WS4 plus"],"definition":"L'associazione tra neuropatia periferica demielinizzante, leucodistrofia centrale demielinizzante, sindrome di Waardenburg e malattia di Hirschsprung (PCWH) è una malattia sistemica caratterizzata dalla combinazione tra i segni clinici della sindrome di Waardenburg-Shah (WSS) e sintomi neurologici di gravità variabile."},"nl":{"name":"Perifere demyeliniserende neuropathie - centrale dysmyeliniserende leukodystrofie - syndroom van Waardenburg - ziekte van Hirschsprung","synonyms":["Neurologisch syndroom van Waardenburg-Shah","PCWH","WS4 plus"],"definition":"Perifere demyeliniserende neuropathie - centrale dysmyeliniserende leukodystrofie - syndroom van Waardenburg - ziekte van Hirschsprung (PCWH) is een systemische ziekte die gekarakteriseerd wordt door de associatie van de kenmerken van syndroom van Waardenburg-Shah (WSS) met neurologische kenmerken met variabele gradaties van ernst."},"pt":{"name":"Síndrome de Waardenburg-Shah, variante neurológica","definition":"A variante neurológica da síndrome de Waardenburg-Shah, também denominada como neuropatia desmielinizante periférica, leucodistrofia desmielinizante central, síndrome de Waardenburg e doença de Hirschsprung (PCWH), é caracterizada pela associação de características de WSS (surdez neurossensorial, anomalias pigmentares e doença de Hirschsprung; ver este termo) com características neurológicas, nomeadamente, hipotonia neonatal, atraso mental (de gravidade variável), nistagmo, espasticidade progressiva, ataxia e epilepsia."},"pl":{"name":"Zespół neurologiczny Waardenburga i Shaha","synonyms":["Obwodowa neuropatia demielinizująca- ośrodkowa leukodystrofia demielinizująca - zespół Waardenburga - choroba Hirschsprunga","PCWH","WS4 plus","WS4\"plus"]},"cs":{"name":"Neurologický Waardenburgův-Shahův syndrom","synonyms":["PCWH","WS4 plus","Syndrom zahrnující periferní demyelinizační neuropati, centrální dysmyelinizační leukodystrofii, Hirschsprungovu nemoc a Waardenburgův syndrom","Neurologický Waardenburg-Shahův syndrom"]},"uk":{"name":"Периферична демієлінізуюча нейропатія - центральна дисмієлінізуюча лейкодистрофія - синдром Ваарденбурга - хвороба Гіршпрунга","synonyms":["Неврологічний синдром Ваарденбурга-Шаха","PCWH","WS4 plus"],"definition":"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity."},"zh":{"name":"外周脱髓鞘病变，中枢髓鞘形成障碍，Waardenburg综合征和Hirschsprung病","synonyms":["神经性Waardenburg-Shah综合征"],"definition":"外周脱髓鞘性神经病-中枢性脑白质营养不良-Waardenburg综合征-先天性巨结肠(PCWH)是一种全身性疾病，其特征是Waardenburg-Shah综合征(WSS)特征伴严重程度不同的神经系统特征。"},"tr":{"name":"Periferik demiyelinizan nöropati-merkezi dismiyelinizan lökodistrofi-Waardenburg sendromu-Hirschsprung hastalığı","synonyms":["PCWH","WS4 artı","Nörolojik Waardenburg-Shah sendromu"]}},"xrefs":[{"source":"OMIM","code":"609136","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563789","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","classifications":[147,156,182,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SOX10","name":"SRY-box transcription factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22963253[PMID]_24311220[PMID]","hgnc":"11190","ensembl":"ENSG00000100146","omim":"602229","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"Dr Véronique PINGAULT[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-17","source":"38854277[PMID]_35725288[PMID]_30559775[PMID]_16504559[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002595","label":"Ileus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000635","label":"Blue irides","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000633","label":"Decreased lacrimation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006978","label":"Dysmyelinating leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004388","label":"Microcolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}