{"orpha":261519,"name":"Maternal uniparental disomy of chromosome X syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(X)mat"],"definition":"A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261519/","orphanet_url":"https://www.orpha.net/en/disease/detail/261519","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome x","synonyms":["UPD(X) maternelle","UPD(X)mat"],"definition":"Disomie uniparentale d'origine maternelle qui ne semble pas avoir d'impact néfaste sur le phénotype de l'individu. Il existe une possibilité d'homozygotie pour une mutation pathogène récessive dont la mère est porteuse, le phénotype spécifique dépendant de la maladie héritée."},"de":{"name":"Uniparentale Disomie X, maternale","synonyms":["UPD(X)mat"]},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma X","synonyms":["UPD(X)mat"],"definition":"Es una disomía uniparental de origen materno que probablemente no tenga ninguna expresión fenotípica en el individuo, a excepción de aquellos casos de enfermedades recesivas en las que la madre es portadora y que esta disomía implicaría que la mutación estuviese en homocigosis. En estos casos, el fenotipo específico dependerá del trastorno heredado."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma X","synonyms":["UPD(X)mat"],"definition":"È una disomia uniparentale di origine materna che di solito non ha effetti sul fenotipo. Esiste tuttavia la possibilità di una omozigosi per una mutazione responsabile di una malattia recessiva, di cui la madre è portatrice; la specificità del fenotipo dipende dalla malattia trasmessa."},"nl":{"name":"Maternale uniparentale disomie van chromosoom X-syndroom","synonyms":["UPD(X)mat"],"definition":"Een uniparentale disomie van maternale oorsprong die geen nadelige invloed lijkt te hebben op het fenotype van een individu. Er is mogelijk homozygositeit voor een recessieve mutatie van de ziekte waarvan de moeder drager is, en het specifieke fenotype hangt af van de overgeërfde stoornis."},"pt":{"name":"Dissomia uniparental materna do cromossoma X"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu X pochodzenia matczynego","synonyms":["UPD(X)mat"]},"cs":{"name":"Maternální uniparentální dizomie chromozomu X","synonyms":["UPD(X)mat"]},"uk":{"name":"Однобатьківська материнська дисомія хромосоми Х","synonyms":["UPD(X)mat"],"definition":"A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder."},"zh":{"name":"母源X染色体单亲二倍体","synonyms":["UPD(X)mat"],"definition":"一种母系起源的单亲二分体，似乎对个体的表型没有不利影响。隐性疾病突变有可能是纯合子，母亲是携带者，具体表型取决于遗传性疾病。"},"tr":{"name":"Maternal X kromozomu uniparental dizomisi","synonyms":["UPD (X) mat"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"573923144"},{"source":"MONDO","code":"0016851","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263793,"name":"Uniparental disomy of chromosome X 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":"2015-12-09","source":"8554052[PMID]_24434812[PMID]_8981959[PMID]_8540683[PMID]_8362910[PMID]_26043854[PMID]_2893543[PMID]","terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003248","label":"Gonadal tissue inappropriate for external genitalia or chromosomal sex","frequency":"Frequent (79-30%)","criteria":null}]}}