{"orpha":2237,"name":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Barakat syndrome","HDR syndrome","Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome"],"definition":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2237/","orphanet_url":"https://www.orpha.net/en/disease/detail/2237","names":{"fr":{"name":"Syndrome d'hypoparathyroïdie-surdité neurosensorielle-dysplasie rénale","synonyms":["Syndrome HDR","Syndrome de Barakat"],"definition":"Maladie génétique rare, hétérogène sur le plan clinique, caractérisée par la triade associant : hypoparathyroïdie (H), surdité neurosensorielle (D) et maladie rénale (R)."},"de":{"name":"Hypoparathyreoidismus-sensorineurale Schwerhörigkeit-Nierendysplasie-Syndrom","synonyms":["Barakat-Syndrom","HDR-Syndrom"],"definition":"Das HDR-Syndrom ist eine seltene, klinisch heterogene genetische Störung, die durch die Trias von Hypoparathyreoidismus (H ypoparathyroidism), Sensorineuraler Taubheit (D eafness) und Nierenerkrankung (R enal disease) gekennzeichnet ist."},"es":{"name":"Síndrome de hipoparatiroidismo-sordera neurosensorial-enfermedad renal","synonyms":["Síndrome HDR","Síndrome de Barakat","Síndrome de hipoparatiroidismo-hipoacusia neurosensorial-enfermedad renal"],"definition":"El síndrome de hipoparatiroidismo - sordera neurosensorial - enfermedad renal, es un trastorno genético poco frecuente, clínicamente heterogéneo, caracterizado por la tríada de hipoparatiroidismo (H), sordera neurosensorial (D) y enfermedad renal (R)."},"it":{"name":"Ipoparatiroidismo - sordità - malattia renale","synonyms":["Sindrome HDR","Sindrome di Barakat"],"definition":"La malattia che associa ipoparatiroidismo, sordità neurosensoriale e malattia renale è una condizione genetica rara, clinicamente eterogenea, caratterizzata dalla triade ipoparatiroidismo, sordità neurosensoriale e malattia renale (dall'inglese: HDR)."},"nl":{"name":"Hypoparathyreoïdie - sensorineurale doofheid - nierziekte-syndroom","synonyms":["HDR-syndroom","Hypoparathyreoïdie - sensorineuraal gehoorverlies - nierziekte-syndroom","Syndroom van Barakat"],"definition":"Hypoparathyreoïdie - sensorineurale doofheid - nierziekte-syndroom is een zeldzame, klinisch heterogene genetische stoornis die gekarakteriseerd wordt door de triade van hypoparathyreoïdie (H), sensorineurale doofheid (D) en renale ziekte (R)."},"pt":{"name":"Síndrome de hipoparatiroidismo-surdez neurossensorial-doença renal","synonyms":["Síndrome Barakat","Síndrome HDR"],"definition":"A síndrome de HDR é uma doença hereditária que consiste em hipoparatiroidismo, surdez neurossensorial e doença renal."},"pl":{"name":"Niedoczynność przytarczyc - głuchota - choroba nerek","synonyms":["Zespół Barakata","Zespół HDR"]},"cs":{"name":"Syndrom zahrnující hypoparatyreózu, hluchotu a renální onemocnění","synonyms":["HDR syndrom","Barakatův syndrom"]},"uk":{"name":"Синдром гіпопаратиреозу - сенсоневральної глухоти - ниркової недостатності","synonyms":["Синдром Бараката","HDR-синдром","Синдром гіпопаратиреозу - сенсоневральної приглухуватості - ниркової недостатності"],"definition":"Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R)."},"zh":{"name":"甲状旁腺功能减退-感音神经性耳聋-肾功能障碍","synonyms":["甲状旁腺功能减退-感音神经性听力损失-肾脏病综合征"]},"tr":{"name":"Hipoparatiroidi-sensörinöral sağırlık-böbrek hastalığı sendromu","synonyms":["HDR sendromu","Barakat sendromu","Hipoparatiroidi-sensörinöral işitme kaybı-böbrek hastalığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"146255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1390175510"},{"source":"MONDO","code":"0007797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537907","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840333","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075281","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":261938,"name":"Partial deletion of the short arm of chromosome 10 syndrome","classifications":[147,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"GATA3","name":"GATA binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10935639[PMID]_21120445[PMID]_23757620[PMID]","hgnc":"4172","ensembl":"ENSG00000107485","omim":"131320","loci":["10p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":180.0,"area":"Worldwide","status":"Validated","source":"29663634[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-29","source":"874665[PMID]_19659764[PMID]_1522843[PMID]","terms":[{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000860","label":"Parathyroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001153","label":"Septate vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011840","label":"Abnormality of T cell physiology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000148","label":"Vaginal atresia","frequency":"Very rare (<4-1%)","criteria":null}]}}