Paternal uniparental disomy of chromosome 20 syndrome
Synonyms: Paternal UPD(20) · UPD(20)pat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal uniparental disomy of chromosome 20 syndrome | Paternal UPD(20) · UPD(20)pat |
| fr | Syndrome de disomie uniparentale d'origine paternelle du chromosome 20 | UPD(20) paternelle · UPD(20)pat |
| de | Uniparentale Disomie des Chromosom 20, paternale | UPD(20)pat |
| es | Síndrome de disomía uniparental paterna del cromosoma 20 | UPD(20) paterna · UPD(20)pat |
| it | Sindrome disomia uniparentale paterna del cromosoma 20 | UPD(20)pat · UPD(20) paterna |
| nl | Paternale uniparentale disomie van chromosoom 20-syndroom | Paternale UPD(20) · UPD(20)pat |
| pt | Dissomia uniparental de origem paterna, cromossoma 20 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 20 pochodzenia ojcowskiego | Ojcowska UPD20 · UPD(20)pat |
| cs | Paternální uniparentální dizomie chromozomu 20 | Paternální UPD(20) · UPD(20)pat |
| uk | Батькова уніпарентна дисомія хромосоми 20 | Батькова UPD(20) · UPD(20)pat |
| zh | 父源性20号染色体单亲二体 | 父源性UPD(20) |
| tr | 20. kromozomun paternal uniparental dizomisi | UPD (20) pat · Paternal UPD (20) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD45.1 | NTBT | index | validated |
| MONDO | 0019924 | E | validated | |
| UMLS | C4275028 | 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:98154Paternal 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96194
- This record as JSON: /data/d/96194.json