{"orpha":261529,"name":"Ring chromosome Y syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ring chromosome Y","r(Y)"],"definition":"A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261529/","orphanet_url":"https://www.orpha.net/en/disease/detail/261529","names":{"fr":{"name":"Syndrome du chromosome Y en anneau","synonyms":["Chromosome Y en anneau","r(Y)"],"definition":"Anomalie rare de structure du chromosome Y avec un phénotype très variable, principalement caractérisé par une petite taille, une insuffisance gonadique partielle ou totale, un infantilisme sexuel, des anomalies génitales (organes génitaux ambigus, hypospadias, cryptorchidie) et une azoospermie ou une oligozoospermie. Un retard de la parole, une obésité et un acanthosis nigricans ont par ailleurs été rapportées. Une dysphorie de genre et un trouble bipolaire comorbide ont également été observés."},"de":{"name":"Ringchromosom-Y-Syndrom","synonyms":["Ringchromosom Y","r(Y)"],"definition":"Eine seltene strukturelle Chromosom-Y-Anomalie mit einem stark variablen Phänotyp, der hauptsächlich durch Kleinwuchs, teilweises bis vollständiges Versagen der Gonaden, sexuellen Infantilismus, Genitalanomalien (z. B. uneindeutige Genitalien, Hypospadie, Kryptorchismus) und Azoospermie oder Oligozoospermie gekennzeichnet ist. Zu den weiteren berichteten Merkmalen gehören Sprachverzögerung, Adipositas und Acanthosis nigricans. Geschlechtsdysphorie und komorbide bipolare Störung wurden ebenfalls beobachtet."},"es":{"name":"Síndrome del cromosoma Y en anillo","synonyms":["Cromosoma Y en anillo","r(Y)"],"definition":"Es una anomalía estructural poco frecuente del cromosoma Y, con un fenotipo muy variable, caracterizada principalmente por talla baja, insuficiencia gonadal parcial o total, infantilismo sexual, anomalías genitales (como genitales ambiguos, hipospadias, criptorquidia) y azoospermia u oligozoospermia. Otras características adicionales descritas incluyen retraso del habla, obesidad y acantosis nigricans, así como disforia de género y trastorno bipolar comórbido."},"it":{"name":"Cromosoma Y ad anello","synonyms":["r(Y)"],"definition":"Il cromosoma Y ad anello è un'anomalia strutturale rara del cromosoma Y associata a un quadro clinico molto variabile, per lo più caratterizzato da bassa statura, insufficienza gonadica parziale o totale, infantilismo sessuale, anomalie dei genitali (genitali ambigui, ipospadia, criptorchidismo) e azoospermia o oligozoospermia. Altri possibili segni clinici sono il ritardo dell'acquisizione del linguaggio, l'obesità, e l'acanthosis nigricans. Sono stati descritti anche casi di disforia di genere e di bipolarismo."},"nl":{"name":"Ringchromosoom Y-syndroom","synonyms":["Ringchromosoom Y","r(Y)"],"definition":"Een zeldzame structurele anomalie van Y-chromosoom met een zeer variabel fenotype, vooral gekenmerkt door kleine gestalte, gedeeltelijk of volledig gonadaal falen, seksueel infantilisme, genitale anomalieën (zoals ambigue genitaliën, hypospadie, cryptorchisme), en azoöspermie of oligozoöspermie. Gerapporteerde bijkomende kenmerken zijn onder meer spraakachterstand, obesitas, en acanthosis nigricans. Genderdysforie en comorbide bipolaire stoornis werden ook reeds waargenomen."},"pt":{"name":"Síndrome de cromossoma Y em anel","definition":"Anomalia estrutural do cromossoma Y rara, com um fenótipo altamente variável, caracterizado principalmente por baixa estatura, insuficiência gonadal parcial a total, infantilismo sexual, anomalias genitais (por exemplo, genitália ambígua, hipospádias, criptorquidia) e azoospermia ou oligozoospermia. Outras caraterísticas reportadas incluem atraso da linguagem, obesidade e acantose nigricans. Também foram observadas disforia de género e perturbação bipolar comórbida."},"pl":{"name":"Chromosom pierścieniowy Y","synonyms":["r(Y)"],"definition":"Rzadka anomalia strukturalna chromosomu Y o bardzo zmiennym fenotypie, charakteryzująca się głównie niskim wzrostem, częściową lub całkowitą niewydolnością gonad, infantylizmem seksualnym, wadami narządów płciowych (np. obojnaczymi narządami płciowymi, spodziectwem, wnętrostwem) oraz azoospermią lub oligozoospermią. Dodatkowe objawy obejmują opóźnienie mowy, otyłość i rogowacenie ciemne. Obserwowano także dysforię płciową i współistniejącą chorobę afektywną dwubiegunową."},"cs":{"name":"Ring chromozom Y","synonyms":["r(Y)"]},"uk":{"name":"Синдром кільцевої хромосоми Y","synonyms":["r(Y)","Кільцева хромосома Y"],"definition":"A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed."},"zh":{"name":"环状Y染色体综合征","synonyms":["环状Y染色体"],"definition":"环状染色体Y综合征是一种罕见的Y染色体结构异常，具有高度多变的表型，主要表现为身材矮小、部分性腺功能衰竭、性幼稚、生殖器畸形(如两性畸形、尿道下裂、隐睾)、无精子症或少精子症。其他报道的特征包括语言延迟、肥胖和黑棘皮病。还观察到性别焦虑症和共病双相情感障碍。"},"tr":{"name":"Halka Y kromozom sendromu","synonyms":["r (Y)","Halka kromozomu Y"]}},"xrefs":[{"source":"ICD-10","code":"Q98.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD53","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"388539343"},{"source":"MONDO","code":"0016853","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706450","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98158,"name":"Chromosome Y structural anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-16","source":"18555994[PMID]_25381945[PMID]_965013[PMID]_649173[PMID]_16359976[PMID]_24052714[PMID]_10424817[PMID]_16359976[PMID]_ISBN-13: 978-3110116076[OTHER]_24052714[PMID]","terms":[{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010460","label":"Abnormality of the female genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010461","label":"Abnormality of the male genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Occasional (29-5%)","criteria":null}]}}