{"orpha":3085,"name":"Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Edwards-Sethi syndrome","Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome","Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome"],"definition":"A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3085/","orphanet_url":"https://www.orpha.net/en/disease/detail/3085","names":{"fr":{"name":"Syndrome de rétinite pigmentaire-déficience intellectuelle-surdité-hypogonadisme","synonyms":["Syndrome de rétinite pigmentaire-déficience intellectuelle-surdité-hypogénitalisme"],"definition":"Rétinite pigmentaire syndromique rare caractérisée par une rétinopathie pigmentaire, un diabète sucré avec hyperinsulinisme, un acanthosis nigricans, des cataractes secondaires, une surdité neurogène, une petite taille, un hypogonadisme léger chez les hommes et des ovaires polykystiques avec oligoménorrhée chez les femmes. Le mode de transmission serait autosomique récessif. La présence d'une déficience intellectuelle et l'absence d'insuffisance rénale distinguent la maladie du syndrome d'Alstrom. Aucun nouveau cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Retinitis pigmentosa-Intelligenzminderung-Taubheit-Hypogonadismus-Syndrom","synonyms":["Edwards-Sethi-Syndrom","Retinitis pigmentosa-Intelligenzminderung- Labyrinthschwerhörigkeit-Hypogenitalismus-Syndrom","Retinitis pigmentosa-Intelligenzminderung-sensorineuraler Hörverlust-Hypogenitalismus-Syndrom"],"definition":"Eine seltene syndromale Form der Retinitis pigmentosa, die durch Pigmentretinopathie, Diabetes mellitus mit Hyperinsulinismus, Acanthosis nigricans, sekundäre Katarakt, neurogene Taubheit, Kleinwuchs, leichten Hypogonadismus bei Männern und polyzystische Ovarien mit Oligomenorrhoe bei Frauen gekennzeichnet ist. Es wird ein autosomal-rezessiver Erbgang angenommen. Es unterscheidet sich vom Alstrom-Syndrom (siehe dort) durch das Vorhandensein einer Intelligenzminderung und das Fehlen einer Niereninsuffizienz. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de retinosis pigmentaria-discapacidad intelectual-sordera-hipogonadismo","synonyms":["Síndrome de Edwards-Sethi","Síndrome de retinosis pigmentaria-discapacidad intelectual-hipoacusia neurosensorial-hipogenitalismo","Síndrome de retinosis pigmentaria-discapacidad intelectual-sordera laberíntica-hipogenitalismo"],"definition":"Es una retinosis pigmentaria sindrómica muy poco frecuente caracterizada por retinopatía pigmentaria, diabetes mellitus con hiperinsulinismo, acantosis nigricans, cataratas secundarias, sordera neurogénica, talla baja, leve hipogonadismo en varones y ovarios poliquísticos con oligomenorrea en mujeres. Se piensa que el modo de herencia es autosómico recesivo. Se puede diferenciar del síndrome de Alstrom por la presencia de discapacidad intelectual y la ausencia de insuficiencia renal. Desde 1993 no se han descrito nuevos casos en la literatura."},"it":{"name":"Sindrome retinite pigmentosa-disabilità intellettiva-sordità-ipogonadismo","synonyms":["Sindrome di Edwards-Sethi","Sindrome retinite pigmentosa-disabilità intellettiva-sordità labirintica-ipogenitalismo","Sindrome retinite pigmentosa-disabilità intellettiva-perdita dell’udito neurosensoriale-ipogenitalismo"],"definition":"La retinite pigmentosa associata a disabilità intellettiva, sordità e ipogenitalismo è una retinite pigmentosa sindromica molto rara, caratterizzata da retinopatia pigmentata, diabete mellito associato a iperinsulinismo, acanthosis nigricans, cataratta secondaria, sordità neurogena, bassa statura, ipogonadismo lieve nei maschi e ovaie policistiche associate a oligomenorrea nelle femmine. È stata ipotizzata una trasmissione autosomica recessiva. Si differenzia dalla sindrome di Alstrom (si veda questo termine) per la presenza di disabilità intellettiva e l'assenza di insufficienza renale. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Retinitis pigmentosa - intellectuele achterstand - doofheid - hypogonadisme-syndroom","synonyms":["Retinitis pigmentosa - intellectuele achterstand - labyrintische doofheid - hypogenitalisme-syndroom","Retinitis pigmentosa - intellectuele achterstand - sensorineuraal gehoorverlies - hypogenitalisme-syndroom"],"definition":"Een zeldzame syndromale retinitis pigmentosa, gekarakteriseerd door pigmentretinopathie, diabetes mellitus met hyperinsulinisme, acanthosis nigricans, secundair cataract, neurogene doofheid, kleine gestalte, mild hypogonadisme bij mannen en polycystische ovaria met oligomenorroe bij vrouwen. Overerving gebeurt vermoedelijk autosomaal recessief. Het kan onderscheiden worden van het syndroom van Alstrom (zie deze term) door de aanwezigheid van intellectuele achterstand en de afwezigheid van nierinsufficiëntie. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de retinite pigmentosa-perturbação do desenvolvimento intelectual-surdez-hipogonadismo","synonyms":["Sindrome Edwards-Seth","Síndrome de retinite pigmentosa-perturbação do desenvolvimento intelectual-surdez labirintina-hipogenitalismo","Síndrome de retinite pigmentosa-perturbação do desenvolvimento intelectual-surdez neurossensorial-hipogonadismo"]},"pl":{"name":"Zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna - głuchota - hipogenitalizm","synonyms":["Edwards-Sethi syndrome","Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome","Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome"]},"cs":{"name":"Syndrom zahrnující retinitis pigmentosa, mentální retardaci, hluchotu a hypogenitalismus","synonyms":["Edwards-Sethi syndrome","Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome","Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome"]},"uk":{"name":"Синдром пігментної дегенерація сітківки - інтелектуальної недостатності - глухоти - гіпогонадизму","synonyms":["Синдром Едвардса-Сеті","Синдром пігментної дегенерації сітківки-інтелектуальноїа недостатності-лабіринтовоїа глухоти-гіпогеніталізму","Синдром пігментного ретиніту-інтелектуальної недостатності-сенсоневральноїа приглуховатості- гіпогеніталізму"],"definition":"A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993."},"zh":{"name":"色素性视网膜炎-智力障碍-耳聋-性腺功能减退综合征","synonyms":["色素性视网膜炎-智力障碍-感音神经性听觉丧失-性腺功能减退综合征"]},"tr":{"name":"Retinitis pigmentoza-zihinsel yetersizlik-sağırlık-hipogonadizm sendromu","synonyms":["Retinitis pigmentosa-zihinsel yetersizlik- labirentte sağırlık-hipogenitalizm sendromu","Retinitis pigmentosa-zihinsel yetersizlik-sensörinöral işitme kaybı-hipogenitalizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"268020","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1217628307"},{"source":"MONDO","code":"0009983","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518330","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4683","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8456839[PMID]_1251844[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8456839[PMID]_1251844[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","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:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null}]}}