{"orpha":96181,"name":"Maternal uniparental disomy of chromosome 6 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(6)mat"],"definition":"Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96181/","orphanet_url":"https://www.orpha.net/en/disease/detail/96181","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle du chromosome 6","synonyms":["UPD(6)mat","UPD(6) maternelle"],"definition":"Disomie uniparentale d'origine maternelle qui n'a probablement pas d'expression phénotypique, sauf en cas d'homozygotie pour une mutation récessive dont la mère est porteuse."},"de":{"name":"Uniparentale Disomie 6, maternale","synonyms":["UPD(6)mat"],"definition":"Die maternale uniparentale Disomie von Chromosom 6 ist eine uniparentale Disomie mütterlichen Ursprungs, die durch intrauterine Wachstumsretardierung gekennzeichnet ist. Homozygotie autosomal-rezessiv vererbter Mutationen der Mutter kann weitere Phänotypen hervorrufen."},"es":{"name":"Síndrome de disomía uniparental materna del cromosoma 6","synonyms":["UPD(6)mat"],"definition":"La disomía uniparental materna del cromosoma 6 es una disomía uniparental de origen materno caracterizada por un retraso del crecimiento intrauterino. La mutación en homocigosis de la enfermedad recesiva para la que sólo la madre es portadora, puede conducir a otros fenotipos."},"it":{"name":"Sindrome disomia uniparentale materna del cromosoma 6","synonyms":["UPD(6)mat"],"definition":"La disomia uniparentale materna del cromosoma 6 una disomia uniparentale di origine materna caratterizzata da ritardo della crescita prenatale. L'eventuale omozigosi per una mutazione responsabile di una malattia recessiva, di cui solo la madre è portatrice, può esitare in altri fenotipi."},"nl":{"name":"Maternale uniparentale disomie van chromosoom 6-syndroom","synonyms":["UPD(6)mat"],"definition":"Maternale uniparentale disomie van chromosoom 6 is een uniparentale disomie van maternale oorsprong en wordt gekarakteriseerd door intra-uteriene groeiretardatie. Homozygositeit voor een recessieve ziektemutatie waarvan enkel een moeder een drager is, kan leiden tot andere fenotypes."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 6"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 6 pochodzenia matczynego","synonyms":["UPD(6)mat"]},"cs":{"name":"Maternální uniparentální dizomie chromozomu 6","synonyms":["UPD(6)mat"]},"uk":{"name":"Материнська уніпарентна дисомія хромосоми 6","synonyms":["UPD(6)mat"],"definition":"Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes."},"zh":{"name":"母源性6号染色体单亲二体","synonyms":["母源性UPD(6)"],"definition":"母源性6号染色体单亲二体是一种来源于母亲的单亲二体，其特征为宫内发育迟缓。隐性遗传疾病基因突变的纯合病例（只有母亲是携带者）可有其他表型，否则通常没有表型表达。"},"tr":{"name":"6. kromozomun maternal uniparental dizomisi","synonyms":["UPD (6) 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":"423779048"},{"source":"MONDO","code":"0019912","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707720","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":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"27922284[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27922284[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-17","source":"25633059[PMID]_23499059[PMID]_21166787[PMID]_20583164[PMID]_16906568[PMID]_16470696[PMID]_11334617[PMID]_10541311[PMID]_8655360[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002805","label":"Accelerated bone age after puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008258","label":"Congenital adrenal hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Occasional (29-5%)","criteria":null}]}}