{"orpha":456328,"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Xq28 contiguous gene deletion syndrome"],"definition":"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-456328/","orphanet_url":"https://www.orpha.net/en/disease/detail/456328","names":{"fr":{"name":"Syndrome de myopathie centronucléaire liée à l'X-anomalies génitales","synonyms":["Syndrome de délétion de gènes contigus Xq28"],"definition":"Anomalie chromosomique rare, une délétion partielle du bras long du chromosome X, caractérisée par une combinaison de manifestations cliniques de myopathie centronucléaire liée à l'X et de différence du développement sexuel 46,XY. Une forme sévère de myopathie congénitale est présente chez tous les patients, et des anomalies d'organes génitaux sont présentes chez les patients masculins."},"de":{"name":"X-chromosomale myotubuläre Myopathie-Genitalanomalien-Syndrom","synonyms":["Xq28-Contiguous gene deletion-Syndrom"]},"es":{"name":"Síndrome de miopatía miotubular-anomalías genitales ligado al cromosoma X","synonyms":["Miopatía miotubular y genitales ambiguos","Síndrome de deleción de genes contiguos Xq28"],"definition":"El síndrome de miopatía miotubular ligada al cromosoma X - anomalías genitales, es una anomalía cromosómica poco frecuente, consistente en una deleción parcial del brazo largo del cromosoma X. Está caracterizado por una combinación de manifestaciones clínicas de miopatía miotubular ligada al cromosoma X y un trastorno del desarrollo sexual con cariotipo 46,XY. Los afectados presentan una forma grave de miopatía congénita y genitales masculinos anómalos."},"it":{"name":"Sindrome miopatia miotubulare-anomalie genitali legata all'X","synonyms":["Sindrome da delezione di geni contigui Xq28"],"definition":"La sindrome che associa la miopatia miotubulare e le anomalie dei genitali legata all'X è una patologia cromosomica rara causata dalla delezione parziale del braccio lungo del cromosoma X, caratterizzata dai segni clinici tipici della miopatia miotubulare legata all'X, associati al disturbo dello sviluppo sessuale 46,XY. I pazienti presentano una forma grave di miopatia congenita e genitali maschili anomali."},"nl":{"name":"X-gebonden myotubulaire myopathie - abnormale genitaliën-syndroom","synonyms":["Xq28-'contiguous gene'-deletiesyndroom"],"definition":"X-gebonden myotubulaire myopathie - abnormale genitaliën-syndroom is een zeldzame chromosomale anomalie, namelijk een partiële deletie van de lange arm van chromosoom X, en wordt gekarakteriseerd door een combinatie van klinische manifestaties van X-gebonden myotubulaire myopathie en een 46,XY geslachtsontwikkelingsstoornis. Patiënten vertonen een ernstige vorm van congenitale myopathie en abnormale mannelijke genitaliën."},"pt":{"name":"Síndrome de miopatia microtubular-anomalias genitais ligada ao X","synonyms":["Síndrome de deleção de genes contíguos Xq28"]},"pl":{"name":"Zespół miopatii miotubularnej sprzężonej z chromosomem X i nieprawidłowych narządów płciowych","synonyms":["Zespół delecji przyległego genu Xq28"],"definition":"*Zespół miopatii miotubularnej sprzężonej z chromosomem X i nieprawidłowych narządów płciowych jest rzadką aberracją chromosomową, w której delecji ulega fragment długiego ramienia chromosomu X. Charakteryzuje się kombinacją objawów klinicznych miopatii miotubularnej sprzężonej z chromosomem X i zaburzeniem rozwoju płciowego przy kariotypie 46,XY. U pacjentów występuje ciężka postać wrodzonej miopatii oraz obecne są nieprawidłowe męskie narządy płciowe."},"cs":{"name":"Syndrom zahrnující X-vázanou myotubulární myopatii a abnormality genitálu","synonyms":["Mikrodeleční syndrom Xq28"]},"uk":{"name":"Х-зчеплений синдром міотубулярної міопатії-аномальних геніталій","synonyms":["Синдром делеції суміжного гена Xq28"],"definition":"X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia."},"zh":{"name":"X连锁-肌管性肌病-生殖器异常综合征","synonyms":["Xq28连续基因缺失综合征"],"definition":"X连锁肌管性肌病-生殖器异常综合征，是一种罕见的染色体异常，X染色体长臂部分缺失，其特点是具有X连锁肌管性肌病合并46，XY性发育障碍的临床表现。患者表现为严重的先天性肌病和男性生殖器异常。"},"tr":{"name":"X'e bağlı miyotübüler miyopati-anormal genital sendrom","synonyms":["Xq28 bitişik gen delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"300219","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564561","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":595,"name":"Centronuclear myopathy","classifications":[156,181]},{"orpha":263756,"name":"Partial deletion of the long arm of chromosome X syndrome","classifications":[147,156]},{"orpha":207110,"name":"Qualitative or quantitative defects of myotubularin","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]}],"children":[],"genes":[{"symbol":"MAMLD1","name":"mastermind like domain containing 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"9169146[PMID]_26580071[PMID]","hgnc":"2568","ensembl":"ENSG00000013619","omim":"300120","loci":["Xq28"]},{"symbol":"MTM1","name":"myotubularin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"8789451[PMID]","hgnc":"7448","ensembl":"ENSG00000171100","omim":"300415","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"10449925[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10449925[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-10","source":"10449925[PMID]_8789451[PMID]","terms":[{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040314","label":"Blind vagina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000807","label":"Glandular hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003244","label":"Penile hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000808","label":"Penoscrotal hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Occasional (29-5%)","criteria":null}]}}