{"orpha":1018,"name":"X-linked Alport syndrome-diffuse leiomyomatosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Xq22.3 microdeletion syndrome"],"definition":"A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1018/","orphanet_url":"https://www.orpha.net/en/disease/detail/1018","names":{"fr":{"name":"Syndrome d'Alport lié à l'X-léiomyomatose diffuse","synonyms":["Microdélétion Xq22.3"],"definition":"Maladie rénale rare caractérisée par l'association du syndrome d'Alport lié à l'X (néphropathie glomérulaire, surdité de perception et anomalies oculaires) et de la prolifération bénigne des cellules des muscles lisses des voies gastro-intestinales, respiratoires et génitales féminines et se manifestant cliniquement par une dysphagie, une dyspnée, une toux, le stridor, des vomissements postprandiaux, des douleurs rétrosternales ou épigastriques, une pneumonie récurrente et une hypertrophie clitoridienne chez les femmes."},"de":{"name":"X-chromosomales Alport-Syndrom mit diffuser Leiomyomatose","synonyms":["Mikrodeletionssyndrom Xq22.3"],"definition":"Eine seltene Nierenerkrankung, die durch die Assoziation des X-chromosomalen Alport-Syndroms (glomeruläre Nephropathie, sensorineurale Taubheit und Augenanomalien) mit einer gutartigen Proliferation viszeraler glatter Muskelzellen entlang des Magen-Darm-Trakts, der Atemwege und des weiblichen Genitals gekennzeichnet ist, Atemwege und des weiblichen Genitaltrakts. Es äußert sich klinisch durch Dysphagie, Dyspnoe, Husten, Stridor, postprandiales Erbrechen, retrosternale oder epigastrische Schmerzen, rezidivierende Lungenentzündung und Klitorishypertrophie bei Frauen."},"es":{"name":"Síndrome de Alport ligado al cromosoma X-leiomiomatosis difusa","synonyms":["Síndrome de microdeleción Xq22.3"],"definition":"Es una enfermedad renal poco frecuente caracterizada por la asociación del síndrome de Alport ligado al cromosoma X (nefropatía glomerular, pérdida auditiva neurosensorial y anomalías oculares) y la proliferación benigna de células del músculo liso visceral a lo largo del tracto gastrointestinal, respiratorio y genital femenino, manifestándose clínicamente como disfagia, disnea, tos, estridor, vómitos postprandiales, dolor retroesternal o epigástrico, neumonía recurrente e hipertrofia del clítoris en las mujeres."},"it":{"name":"Sindrome di Alport legata all'X-leiomiomatosi diffusa","synonyms":["Sindrome da microdelezione Xq22.3"],"definition":"La sindrome di Alport legata all'X - leiomiomatosi diffusa (XLAS-DL) è una nefropatia rara caratterizzata dalla sindrome di Alport legata all'X (nefropatia glomerulare, sordità neurosensoriale e anomalie oculari) e dalla proliferazione benigna di cellule della muscolatura liscia viscerale a livello del tratto gastrointestinale, delle vie respiratorie e dei genitali femminili. Dal punto di vista clinico, la malattia esordisce con disfagia, dispnea, tosse, stridore, vomito postprandiale, dolore retrosternale o epigastrico, polmonite ricorrente e ipertrofia clitoridea nelle femmine."},"nl":{"name":"X-gebonden syndroom van Alport - diffuse leiomyomatose","synonyms":["Xq22.3-microdeletiesyndroom"],"definition":"Een zeldzame nierziekte, gekarakteriseerd door de associatie van X-gebonden syndroom van Alport (glomerulaire nefropathie, sensorineurale doofheid en ooganomalieën) en goedaardige proliferatie van viscerale gladde spiercellen in gastro-intestinaal, respiratoir, en vrouwelijk genitaal stelsel, wat zich klinisch manifesteert met dysfagie, dyspneu, hoest, stridor, postprandiaal braken, retrosternale of epigastrische pijn, recidiverende pneumonie, en hypertrofie van clitoris bij vrouwen."},"pt":{"name":"Síndrome Alport ligada ao X-leiomiomatose difusa"},"pl":{"name":"Zespół Alporta związany z chromosomem X-rozlana mięśniakowatość macicy","synonyms":["Zespół mikrodelecji Xq22.3"]},"cs":{"name":"X-vázaná difuzní leiomyomatóza s Alportovým syndromem","synonyms":["Xq22.3 mikrodeleční syndrom"]},"uk":{"name":"Х-зчеплений синдром Альпорта - дифузний лейоміоматоз","synonyms":["Синдром мікроделеції Xq22.3"],"definition":"A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females."},"zh":{"name":"X连锁Alport综合征-弥漫性平滑肌瘤病","synonyms":["Xq22.3 微缺失综合征"]},"tr":{"name":"X'e bağlı Alport sendromu-diffüz leiomiyomatoz","synonyms":["Xq22.3 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"150700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"308940","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":"119811769"},{"source":"MONDO","code":"0010641","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511693","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2432","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":63,"name":"Alport syndrome","classifications":[147,156,188,189,200,233]},{"orpha":263756,"name":"Partial deletion of the long arm of chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"COL4A5","name":"collagen type IV alpha 5 chain","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20951201[PMID]","hgnc":"2207","ensembl":"ENSG00000188153","omim":"303630","loci":["Xq22.3"]},{"symbol":"COL4A6","name":"collagen type IV alpha 6 chain","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20951201[PMID]","hgnc":"2208","ensembl":"ENSG00000197565","omim":"303631","loci":["Xq22.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-17","source":"3153032[PMID]_30322718[PMID]_23765124[PMID]_28275241[PMID]","terms":[{"hpo":"HP:0002031","label":"Abnormal esophagus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010460","label":"Abnormality of the female genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002571","label":"Achalasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006756","label":"Diffuse leiomyomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410281","label":"Dyspepsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100771","label":"Hypoperistalsis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003262","label":"Smooth muscle antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011501","label":"Anterior lenticonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010450","label":"Esophageal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032141","label":"Precordial pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006524","label":"Tracheobronchial leiomyomatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010784","label":"Uterine neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100650","label":"Vaginal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030416","label":"Vulvar neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}