{"orpha":3217,"name":"Deafness-small bowel diverticulosis-neuropathy syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Groll-Hirschowitz syndrome","Hearing loss-small bowel diverticulosis-neuropathy syndrome"],"definition":"A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3217/","orphanet_url":"https://www.orpha.net/en/disease/detail/3217","names":{"fr":{"name":"Syndrome de surdité-diverticulose-neuropathie","synonyms":["Syndrome de Groll-Hirschowitz"],"definition":"Maladie neurologique rare caractérisée par une surdité neurosensorielle progressive, une neuropathie sensorielle et des anomalies gastro-intestinales progressives, notamment une perte de la motilité gastrique, une diverticulose et des ulcères de l'intestin grêle, entraînant une cachexie. Les signes précités peuvent s'accompagner de manifestations neurologiques, à savoir dysarthrie, absence de réflexes tendineux, ptosis et ophtalmoplégie externe. Aucun cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Schwerhörigkeit-Dündarm-Divertikulose-Neuropathie-Syndrom","synonyms":["Groll-Hirschowitz-Syndrom"],"definition":"Eine seltene neurologische Erkrankung, die gekennzeichnet ist durch progrediente sensorineurale Schwerhörigkeit, progressive sensorische Neuropathie und gastrointestinale Anomalien mit zunehmenden Verlust der Magenmotilität, Dündarm-Divertikulose und Ulzerationen, die zu Kachexie führen. Zusätzliche neurologische Manifestationen können Dysarthrie und fehlende Sehnenreflexe, sowie Ptosis und externe Ophthalmoplegie umfassen. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de sordera-diverticulosis en el intestino delgado-neuropatía","synonyms":["Síndrome de hipoacusia-diverticulosis en el intestino delgado-neuropatía"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por sordera neurosensorial progresiva, neuropatía sensitiva progresiva y anomalías gastrointestinales, que incluyen pérdida progresiva de la motilidad gástrica y diverticulosis y úlceras en el intestino delgado que derivan en caquexia. Otras manifestaciones neurológicas adicionales son disartria y ausencia de reflejos osteotendinosos, así como ptosis y oftalmoplejía externa. No ha habido más casos descritos en la literatura desde 1985."},"it":{"name":"Sindrome da sordità-diverticolosi dell'intestino tenue-neuropatia","synonyms":["Sindrome di Groll-Hirschowitz"],"definition":"Si tratta di una malattia neurologica rara, caratterizzata da sordità neurosensoriale progressiva, neuropatia sensoriale progressiva e anomalie gastrointestinali (progressiva perdita della motilità gastrica, diverticolosi e ulcere dell'intestino tenue), che esitano nella cachessia. Può associarsi ad altri sintomi neurologici, che comprendono la disartria, l'assenza dei riflessi tendinei, la ptosi e l'oftalmoplegia esterna. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Doofheid - dunnedarmdiverticulose - neuropathie-syndroom","synonyms":["Syndroom van Groll-Hirschowitz"],"definition":"Een zeldzame neurologische ziekte gekarakteriseerd door progressieve sensorineurale doofheid, progressieve sensorische neuropathie en gastro-intestinale afwijkingen, waaronder progressief verlies van maagmotiliteit en diverticulose en ulceratie van de dunne darm, met cachexie tot gevolg. Mogelijke bijkomende neurologische manifestaties zijn onder meer dysartrie en afwezige peesreflexen, alsook ptose en externe oftalmoplegie. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de surdez-diverticulose do intestino delgado-neuropatia","synonyms":["Síndrome Groll-Hirschowitz"]},"pl":{"name":"Głuchota - uchyłkowatość jelita cienkiego - neuropatia","synonyms":["Zespół Grolla i Hirschowitza"]},"cs":{"name":"Syndrom zahrnující hluchotu, divertikulózu tenkého střeva a neuropatii","synonyms":["Grollův-Hirschowitzův syndrom","Groll-Hirschowitzův syndrom"]},"uk":{"name":"Синдром глухоти - дивертикульозу тонкого кишечника - нейропатії","synonyms":["Синдром Гролла-Гіршовіца","Синдром втрати слуху - дивертикульозу тонкого кишківника - нейропатії"],"definition":"A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985."},"zh":{"name":"耳聋-小肠憩室-神经病综合征","synonyms":["听力丧失-小肠憩室-神经病变综合征"]},"tr":{"name":"Sağırlık-ince bağırsak divertikülozu-nöropati sendromu","synonyms":["Groll-Hirschowitz sendromu","İşitme kaybı-ince bağırsak divertikülozu-nöropati sendromu"]}},"xrefs":[{"source":"OMIM","code":"221400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1887446084"},{"source":"MONDO","code":"0009086","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857338","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"4028504[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4028504[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-12","source":null,"terms":[{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002588","label":"Duodenal ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null}]}}