{"orpha":96179,"name":"Maternal uniparental disomy of chromosome 2 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(2)mat"],"definition":"Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96179/","orphanet_url":"https://www.orpha.net/en/disease/detail/96179","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 2","synonyms":["UPD(2) maternelle","UPD(2)mat"],"definition":"Disomie uniparentale maternelle qui n'a probablement pas d'expression phénotypique, sauf en cas d'homozygotie pour une mutation récessive de la maladie dont seule la mère est porteuse."},"de":{"name":"Uniparentale Disomie 2, maternale","synonyms":["UPDM 2"],"definition":"Eine uniparentale Disomie mütterlichen Ursprungs, die höchstwahrscheinlich keine phänotypische Ausprägung hat, außer in Fällen der Homozygotie für eine rezessive Krankheitsmutation, für die nur die Mutter Trägerin ist."},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 2","synonyms":["UPD(2)mat"],"definition":"La disomía uniparental materna del cromosoma 2, es una disomía uniparental de origen materno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo la madre es portadora y en el que esta disomía implicaría que la mutación estuviese en homocigosis."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 2","synonyms":["UPD(2)mat"],"definition":"La disomia uniparentale materna del cromosoma 2 è una disomia di origine materna che di solito non ha effetti sul fenotipo, ad eccezione dei casi di omozigosi per una mutazione responsabile di una malattia recessiva, di cui solo la madre è portatrice."},"nl":{"name":"Maternale uniparentale disomie van chromosoom 2-syndroom","synonyms":["UPD(2)mat"],"definition":"Maternale uniparentale disomie van chromosoom 2 is een uniparentale disomie van maternale oorsprong die waarschijnlijk geen fenotypische expressie vertoont, behalve in gevallen van homozygositeit voor een recessieve ziektemutatie waarvan enkel de moeder een drager is."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 2"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 2 pochodzenia matczynego","synonyms":["UPD(2)mat"],"definition":"*Matczyna jednorodzicielska disomia chromosomu 2 jest jednorodzicielską disomią pochodzenia matczynego, która najprawdopodobniej nie jest związana z charakterystycznym fenotypem, z wyjątkiem przypadków ze stwierdzoną homozygotyczną mutacją odpowiedzialną za rozwój choroby recesywnej, której nosicielką jest tylko matka."},"cs":{"name":"Maternální uniparentální dizomie chromozomu 2","synonyms":["UPD(2)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 2","synonyms":["UPD(2)mat"],"definition":"Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier."},"zh":{"name":"母源性2号染色体单亲二体","synonyms":["母源性UPD(2)"],"definition":"母源性2号染色体单亲二体是一种来源于母亲的单亲二体，除了隐性遗传疾病基因突变的纯合病例（母亲只是携带者）外，很可能没有任何表型表达。"},"tr":{"name":"2. kromozom'nin maternal uniparental dizomisi","synonyms":["UPD (2) 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":"2067230711"},{"source":"MONDO","code":"0019910","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-03","source":"8533806[PMID]_23167750[PMID]_23276565[PMID]_24075380[PMID]_24243683[PMID]_8938070[PMID]_9178319[PMID]_9178319[PMID]_11746120[PMID]","terms":[{"hpo":"HP:0001560","label":"Abnormality of the amniotic fluid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004639","label":"Elevated amniotic fluid alpha-fetoprotein","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008440","label":"C1-C2 vertebral abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004880","label":"Respiratory infections in early life","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null}]}}