{"orpha":411590,"name":"Wolfram-like syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411590/","orphanet_url":"https://www.orpha.net/en/disease/detail/411590","names":{"fr":{"name":"Syndrome de Wolfram-like","definition":"Le syndrome de Wolfram-like est une maladie endocrine rare caractérisée par la triade : un diabète sucré débutant à l'âge adulte, une surdité progressive (se manifestant habituellement au cours de la première décennie, et affectant surtout les fréquences basses à modérées) et/ou une atrophie optique juvénile. Les seules anomalies neurologiques rapportées dans de rares cas sont des troubles psychiatriques (anxiété, dépression, hallucinations) et du sommeil. Les patients ne présentent pas de signes endocrines ou cardiaques, contrairement à ce qui est observé dans le syndrome de Wolfram."},"de":{"name":"Wolfram-ähnliches Syndrom","definition":"Das Wolfram-ähnliche Syndrom ist eine seltene endokrine Erkrankung, die durch die Trias aus Diabetes mellitus im Erwachsenenalter, fortschreitendem Hörverlust (meist im ersten Lebensjahrzehnt und hauptsächlich bei niedrigen bis mittleren Frequenzen) und/oder Optikusatrophie im Jugendalter gekennzeichnet ist. Psychiatrische (d. h. Angstzustände, Depressionen, Halluzinationen) und Schlafstörungen, die einzigen neurologischen Anomalien, die bei dieser Krankheit beobachtet werden, sind in seltenen Fällen berichtet worden. Im Gegensatz zum Wolfram-Syndrom werden bei Patienten mit Wolfram-ähnlichen Syndrom keine endokrinen oder kardialen Befunde beobachtet."},"es":{"name":"Síndrome similar a Wolfram","synonyms":["Síndrome de Wolfram-like"],"definition":"El síndrome similar a Wolfram es una rara enfermedad endocrina caracterizada por la tríada de diabetes mellitus de aparición en adultos, pérdida auditiva progresiva (generalmente diagnosticada en la primera década de vida y afectando principalmente a las frecuencias bajas y medias) y/o atrofia óptica de inicio juvenil. En raras ocasiones se han descrito trastornos psiquiátricos (tales como ansiedad, depresión o alucinaciones) y trastornos del sueño, siendo éstas las únicas alteraciones neurológicas observadas en esta enfermedad. A diferencia del síndrome de Wolfram, los afectados por el síndrome similar a Wolfram no presentan alteraciones endocrinas o cardíacas."},"it":{"name":"Sindrome Wolfram-simile","definition":"La sindrome Wolfram-simile è una malattia endocrina rara, caratterizzata dalla triade diabete mellito ad esordio nell'età adulta, ipoacusia progressiva (prevalentemente alle frequenze basse o moderate, che di solito esordisce nella prima decade di vita) e/o atrofia ottica ad esordio giovanile. Solo raramente sono stati osservati disturbi psichiatrici (ansia, depressione, allucinazioni) e del sonno, che costituiscono le uniche anomalie neurologiche. A differenza della sindrome di Wolfram, questi pazienti non presentano segni endocrini o cardiaci."},"nl":{"name":"Wolfram-achtig syndroom","definition":"Wolfram-achtig syndroom is een zeldzame endocriene ziekte die gekarakteriseerd wordt door de triade van diabetes mellitus met aanvang in de volwassenheid, progressief gehoorverlies (dat zich meestal manifesteert in het eerste levensdecennium en voornamelijk in de lage tot middelhoge frequenties), en/of opticusatrofie die aanvangt op jeugdige leeftijd. In zeldzame gevallen werden psychiatrische (e.g. angst, depressie, hallucinaties) en slaapstoornissen gerapporteerd, de enige neurologische afwijkingen die bij deze ziekte worden waargenomen. In tegenstelling tot syndroom van Wolfram, melden patiënten met Wolfram-achtig syndroom geen endocriene of cardiale bevindingen."},"pt":{"name":"Síndrome semelhante a Wolfram"},"pl":{"name":"Zespół podobny do zespołu Wolframa"},"cs":{"name":"Wolfram-like syndrom"},"uk":{"name":"Вольфрам-подібний синдром","definition":"Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings."},"zh":{"name":"Wolfram样综合征","definition":"Wolfram样综合征是一种罕见的内分泌疾病，其特征是成年发病的糖尿病三联征，进行性听力丧失（通常出现在生命的最初十年，并且主要是中低频率）和/或少年期发作的视神经萎缩。精神疾病包括焦虑，抑郁，幻觉。睡眠障碍是该病中唯一观察到的神经系统异常，在极少数病例中报道。与Wolfram综合征不同，类Wolfram综合征的患者不会有内分泌或心脏异常的报道。"},"tr":{"name":"Wolfram benzeri sendrom"}},"xrefs":[{"source":"OMIM","code":"614296","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":181371,"name":"Rare diabetes mellitus type 1","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"WFS1","name":"wolframin ER transmembrane glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20069065[PMID]_20301750[PMID]","hgnc":"12762","ensembl":"ENSG00000109501","omim":"606201","loci":["4p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-28","source":"16648378[PMID]_21538838[PMID]_18544103[PMID]_12107816[PMID]_7490992[PMID]_20301750[PMID]","terms":[{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null}]}}