{"orpha":1435,"name":"Xq21 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ayazi syndrome","Del(X)(q21)","Monosomy Xq21"],"definition":"An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1435/","orphanet_url":"https://www.orpha.net/en/disease/detail/1435","names":{"fr":{"name":"Syndrome de microdélétion Xq21","synonyms":["Del(X)(q21)","Monosomie Xq21","Syndrome d'Ayazi"],"definition":"Dystrophie rétinienne liée à l'X caractérisée par une choroïdérémie, responsable chez les hommes affectés d'une héméralopie progressive et d'une cécité centrale. Sont aussi observés une obésité, un déficit intellectuel modéré et une surdité congénitale mixte (neurosensorielle et de conduction). Les femmes porteuses présentent des changements rétiniens caractéristiques, indicateurs de l'état de porteur d'une choroïdérémie."},"de":{"name":"Mikrodeletionssyndrom Xq21","synonyms":["Ayazi-Syndrom","Del(X)(q21)","Monosomie Xq21"],"definition":"Eine X-chromosomale Netzhautdystrophie, die durch Choroideremie gekennzeichnet ist und bei männlichen Betroffenen zu fortschreitender Nachtblindheit und schließlich zur Erblindung führt. Adipositas, mäßige Intelligenzminderung und angeborene gemischte (sensorineurale und leitungsbedingte) Schwerhörigkeit werden ebenfalls beobachtet. Weibliche Konduktorinnen weisen typische Netzhautveränderungen auf, die auf den Überträgerstatus der Choroideremie hinweisen."},"es":{"name":"Síndrome de microdeleción Xq21","synonyms":["Del(X)(q21)","Monosomía Xq21","Síndrome de Ayazi"],"definition":"Es una distrofia retiniana ligada al cromosoma X caracterizada por coroideremia, conducente a nictalopía progresiva y finalmente, ceguera central en varones afectados. También se ha observado, obesidad, discapacidad intelectual moderada y sordera congénita mixta (neurosensorial y conductiva). Las mujeres portadoras muestran cambios retinianos característicos indicativos del estado de portador de la coroideremia."},"it":{"name":"Coroideremia - obesità - sordità","synonyms":["Sindrome di Ayasi"],"definition":"La sindrome coroideremia-obesità-sordità è una distrofia retinica legata all'X, caratterizzata da coroideremia che, nei maschi affetti, esita in nictalopia progressiva e cecità centrale. Possono associarsi obesità, disabilità cognitiva moderata e sordità mista (neurosensoriale e conduttiva) congenita. Le femmine eterozigoti presentano alterazioni caratteristiche della retina, indicative dello stato di portatore di coroideremia."},"nl":{"name":"Xq21-microdeletiesyndroom","synonyms":["Del(X)(q21)","Monosomie Xq21","Syndroom van Ayazi"],"definition":"Een X-gebonden retinadystrofie, gekenmerkt door choroïderemie, die bij getroffen mannen progressieve nyctalopie en eventueel centrale blindheid veroorzaakt. Obesitas, matige intellectuele achterstand en congenitale gemengde (sensorineurale en conductieve) doofheid worden ook waargenomen. Vrouwelijke dragers tonen typische veranderingen van netvlies die indicatief zijn voor dragerschap van choroïderemie."},"pt":{"name":"Síndrome de microdeleção Xq21","synonyms":["Síndrome Ayazi"]},"pl":{"name":"zespół mikrodelecji Xq21","synonyms":["Zespół Ayazi"]},"cs":{"name":"Syndrom zahrnující choroideremii, hluchotu a obezitu","synonyms":["Ayaziho syndrom"]},"uk":{"name":"Синдром мікроделеції Xq21","synonyms":["Синдром Аязі","Del(X)(q21)","Моносомія Xq21"],"definition":"An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state."},"zh":{"name":"Xq21微缺失综合征","synonyms":["Ayazi综合征"]},"tr":{"name":"Xq21 mikrodelesyon sendromu","synonyms":["Del (X) (q21)","Monozomi Xq21","Ayazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"303110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010558","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844836","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"369","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1434,"name":"OBSOLETE: Choroideremia-hypopituitarism syndrome","status":"inactive"},{"type":"Referred to","orpha":163988,"name":"OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"POU3F4","name":"POU class 3 homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17935254[PMID]","hgnc":"9217","ensembl":"ENSG00000196767","omim":"300039","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"7258279[PMID]_2624260[PMID]_17935254[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7258279[PMID]_2624260[PMID]_17935254[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26175800[PMID]_22037486[PMID]_17339581[PMID]_7825582[PMID]_2624260[PMID]","terms":[{"hpo":"HP:0000532","label":"Chorioretinal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200065","label":"Chorioretinal degeneration","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000375","label":"Abnormal cochlea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004458","label":"Dilatated internal auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007675","label":"Progressive night blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007937","label":"Reticular pigmentary degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000381","label":"Stapes ankylosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030532","label":"Visual acuity test abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001920","label":"Renal artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0010625","label":"Anterior pituitary dysgenesis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Excluded (0%)","criteria":null}]}}