{"orpha":3463,"name":"Wolfram syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome","Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome","DIDMOAD syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome"],"definition":"A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3463/","orphanet_url":"https://www.orpha.net/en/disease/detail/3463","names":{"fr":{"name":"Syndrome de Wolfram","synonyms":["Syndrome DIDMOAD","Syndrome de déficit en arginine vasopressine-diabète sucré-atrophie optique-surdité"],"definition":"Maladie endocrinienne rare d'origine génétique, caractérisée par un diabète sucré de type 1, un diabète insipide, une surdité neurosensorielle, une atrophie optique bilatérale et des signes neurologiques."},"de":{"name":"Wolfram-Syndrom","synonyms":["Diabetes insipidus-Diabetes mellitus-Optikusatrophie-Schwerhörigkeit-Syndrom","Arginin-Vasopressin-Mangel-Diabetes mellitus-Optikusatrophie-Hörverlust-Syndrom","DIDMOAD-Syndrom"],"definition":"Eine seltene, genetische, endokrine Störung, die durch Diabetes insipidus (DI), Diabetes mellitus (DM) Typ I, bilaterale optische Atrophie (OA), sensorineurale Schwerhörigkeit (D) und neurologische Zeichen gekennzeichnet ist."},"es":{"name":"Síndrome de Wolfram","synonyms":["Síndrome DIDMOAD","Síndrome de deficiencia de arginina vasopresina-diabetes mellitus-atrofia óptica-hipoacusia","Síndrome de deficiencia de arginina vasopresina-diabetes mellitus-atrofia óptica-sordera","Síndrome de diabetes insípida-diabetes mellitus-atrofia óptica-hipoacusia","Síndrome de diabetes insípida-diabetes mellitus-atrofia óptica-sordera"],"definition":"Es un trastorno endocrino de origen genético poco frecuente caracterizado por diabetes mellitus tipo I (DM), diabetes insípida (DI), sordera neurosensorial (S), atrofia óptica bilateral (AO) y signos neurológicos."},"it":{"name":"Sindrome di Wolfram","synonyms":["Diabete mellito - diabete insipido - atrofia ottica - sordità","Sindrome DIDMOAD","Sindrome deficit di arginina vasopressina-diabete mellito-atrofia ottica-perdita dell'udito","Sindrome deficit di arginina vasopressina-diabete mellito-atrofia ottica-sordità","Sindrome diabete insipido-diabete mellito-atrofia ottica-perdita dell'udito","Sindrome diabete insipido-diabete mellito-atrofia ottica-sordità"],"definition":"La sindrome di Wolfram (WS) è un'endocrinopatia genetica rara, caratterizzata da diabete mellito tipo I (DM), diabete insipido (DI), sordità neurosensoriale (S), atrofia ottica (AO) bilaterale e sintomi neurologici."},"nl":{"name":"Syndroom van Wolfram","synonyms":["DIDMOAD-syndroom","Deficiëntie van arginine-vasopressine - diabetes mellitus - opticusatrofie - doofheid-syndroom","Deficiëntie van arginine-vasopressine - diabetes mellitus - opticusatrofie - gehoorverlies-syndroom","Diabetes insipidus - diabetes mellitus - opticusatrofie - doofheid-syndroom","Diabetes insipidus - diabetes mellitus - opticusatrofie - gehoorverlies-syndroom"],"definition":"Een zeldzame, genetische, endocriene stoornis gekarakteriseerd door type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineurale doofheid (D), bilaterale opticusatrofie (OA) en neurologische tekenen."},"pt":{"name":"Síndrome Wolfram","synonyms":["Síndrome DIDMOAD","Síndrome de deficiência de arginina vasopressina-diabetes mellitus-atrofia ótica-perda auditiva","Síndrome de deficiência de arginina vasopressina-diabetes mellitus-atrofia ótica-surdez","Síndrome de diabetes insipidus-diabetes mellitus-atrofia ótica-perda auditiva","Síndrome de diabetes insipidus-diabetes mellitus-atrofia ótica-surdez"],"definition":"O síndrome de Wolfram (WFS) é uma doença neurodegenerativa rara caracterizada por diabetes mellitus tipo I, diabetes insípida, atrofia óptica e sinais neurológicos."},"pl":{"name":"Zespół Wolframa","synonyms":["Moczówka prosta - cukrzyca - atrofia nerwu wzrokowego - głuchota","Moczówka prosta, cukrzyca, atrofia nerwu wzrokowego i głuchota","Zespół DIDMOAD"],"definition":"Zespół Wolframa, znany także jako DIDMOAD to zaburzenie neurodegeneracyjne charakteryzujące się cukrzycą typu 1 (diabetes mellitus-DM), moczówką prostą (diabetes insipidus-DI), głuchotą czuciowo-nerwową (deafness-D), obustronnym zanikiem nerwów wzrokowych (optical atrophy-OA) oraz objawami neurologicznymi. Do innych pokrewnych problemów należy atonia układu moczowego, ataksja, neuropatia obwodowa, zaburzenia psychiczne i(lub) drgawki. Można wyróżnić 2 typy WS: typ 1 i typ 2 (WS1 i WS2)."},"cs":{"name":"Wolframův syndrom","synonyms":["DIDMOAD syndrom","Syndrom zahrnující diabetes insipidus, diabetes mellitus, atrofii optiku a hluchotu"]},"uk":{"name":"Синдром Вольфрама","synonyms":["Синдром дефіциту аргінін-вазопресину - цукрового діабету - атрофії зорового нерва - глухоти","Синдром дефіциту аргінін-вазопресину - цукрового діабету - атрофіу зорового нерва - втрати слуху","Синдром нецукрового діабету-цукрового діабету-атрофії зорового нерва- глухоти","Синдром нецукрового діабету-цукрового діабету-атрофії зорового нерва- втрати слуху","Синдром DIDMOAD"],"definition":"A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs."},"zh":{"name":"Wolfram综合征","synonyms":["尿崩症-糖尿病-视神经萎缩-听力丧失综合征"]},"tr":{"name":"Wolfram sendromu","synonyms":["DIDMOAD sendromu","Diabetes insipidus-diabetes mellitus-optik atrofi-sağırlık sendromu","Diabetes insipidus-diabetes mellitus-optik atrofi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"222300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"598500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604928","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"151381747"},{"source":"MONDO","code":"0018105","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014929","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043207","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7898","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"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) (loss of function) in","status":"Assessed","source":"16806192[PMID]_12913071[PMID]","hgnc":"12762","ensembl":"ENSG00000109501","omim":"606201","loci":["4p16.1"]},{"symbol":"CISD2","name":"CDGSH iron sulfur domain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"24212","ensembl":"ENSG00000145354","omim":"611507","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"7490992[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"India","status":"Validated","source":"21726277[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Worldwide","status":"Validated","source":"ORPHANET_7490992[PMID]_21726277[PMID]_25211237[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.83,"area":"Specific population","status":"Validated","source":"24497219[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Japan","status":"Validated","source":"25211237[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000873","label":"Diabetes insipidus","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:0001959","label":"Polydipsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002592","label":"Gastric ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}