Mosaic genome-wide paternal uniparental disomy syndrome
Synonyms: Androgenetic/biparental mosaicism · Genome-wide paternal uniparental disomy mosaicism · Mosaic genome-wide paternal UPD
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic genome-wide paternal uniparental disomy syndrome | Androgenetic/biparental mosaicism · Genome-wide paternal uniparental disomy mosaicism · Mosaic genome-wide paternal UPD |
| fr | Syndrome de disomie uniparentale d'origine paternelle en mosaïque | Mosaïque androgénétique/biparentale |
| de | Genomweite paternale uniparentale Disomie im Mosaik | Genomweite paternale UPD im Mosaik |
| es | Síndrome de disomía uniparental paterna de genoma completo en mosaico | DUP paterna de genoma completo en mosaico · Mosaicismo androgénico/biparental |
| it | Sindrome disomia uniparentale paterna genomica in mosaico | |
| nl | Mozaïsche genoomwijde paternale uniparentale disomie-syndroom | Androgenetisch/biparentaal mozaïcisme · Genoomwijde paternale uniparentale disomie-mozaïcisme · Mozaïsche genoomwijde paternale UPD |
| pt | Dissomia uniparental paterna de genoma em mosaico | |
| pl | Zespół mozaikowej disomii jednorodzicielskiej pochodzenia ojcowskiego obejmującej cały genom | Mozaikowatośc androgenetyczna/oburodzicielska · Mozaikowatość dotycząca całogenomowej jednorodzicielskiej UPD · Mozaikowatość dotycząca całogenomowej ojcowskiej UPD |
| cs | Celogenomová paternální uniparentální dizomie v mozaice | Androgenetický/biparentální mosaicismus · Mozaická celogenomová paternální uniparentální dizomie · Celogenomová paternální UPD v mozaice |
| uk | Мозаїчна геномна батькова уніпарентна дисомія по всьому геному | Андрогенетичний/бівалентний мозаїцизм · Геномний мозаїцизм однобатьківської дисомії по батьківській лінії · Мозаїчний повногеномний батьковий UPD |
| zh | 嵌合基因组-广泛父系单亲二体 | 基因组-广泛父系单亲二体镶嵌现象 |
| tr | Mozaik genom çapında paternal uniparental dizomi | Mozaik genomu çapında paternal UPD · Androgenetik/biparental mozaisizm · Genom çapında paternal uniparental dizomi mozaisizmi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q95.8 | NTBT | attributed | validated |
| MONDO | 0018007 | E | validated | |
| UMLS | C5190828 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98152Autosomal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 23804593[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23804593[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329813
- This record as JSON: /data/d/329813.json