{"orpha":261524,"name":"Paternal uniparental disomy of chromosome X syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(X)pat"],"definition":"A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261524/","orphanet_url":"https://www.orpha.net/en/disease/detail/261524","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle du chromosome x","synonyms":["UPD(X) paternelle","UPD(X)pat"],"definition":"Disomie uniparentale d'origine paternelle 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 le père est porteur, le phénotype spécifique dépendant de la maladie héritée."},"de":{"name":"Uniparentale Disomie X, paternale","synonyms":["UPD(X)pat"]},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma X","synonyms":["UPD(X)pat"],"definition":"Es una disomía uniparental de origen paterno que probablemente no tenga ninguna expresión fenotípica en el individuo, a excepción de aquellos casos de enfermedades recesivas en las que el padre es portador 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 paterna del cromosoma X","synonyms":["UPD(X)pat"],"definition":"È una disomia uniparentale di origine paterna che non ha effetti significativi sul fenotipo. Esiste tuttavia la possibilità di omozigosi per una malattia recessiva, di cui il padre è portatore; il fenotipo dipende specificamente dalla malattia trasmessa."},"nl":{"name":"Paternale uniparentale disomie van chromosoom X-syndroom","synonyms":["UPD(X)pat"],"definition":"Een uniparentale disomie van paternale 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 vader drager is, en het specifieke fenotype hangt af van de overgeërfde stoornis."},"pt":{"name":"Dissomia uniparental paterna do cromossoma X"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu X pochodzenia ojcowskiego","synonyms":["UPD(X)pat"]},"cs":{"name":"Paternální uniparentální dizomie chromozomu X","synonyms":["UPD(X)pat"]},"uk":{"name":"Однобатьківська батькова дисомія хромосоми Х","synonyms":["UPD(X)pat"],"definition":"A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder."},"zh":{"name":"父源X染色体单亲二倍体","synonyms":["UPD(X)pat"],"definition":"一种起源于父系的单亲二体，似乎对个体的表型没有不利影响。当父亲是隐性遗传病突变的携带者时，有可能导致子代纯合致病，具体表型取决于遗传性疾病。"},"tr":{"name":"Paternal X kromozomu uniparental dizomisi","synonyms":["UPD (X) pat"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"444322860"},{"source":"MONDO","code":"0016852","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191049","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":"2015-11-30","source":"20720308[PMID]_8281147[PMID]_11950856[PMID]_8370585[PMID]_15957160[PMID]_14688173[PMID]","terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100853","label":"Hypoplastic areola","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","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:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null}]}}