Maternal uniparental disomy of chromosome 16 syndrome
Synonyms: UPD(16)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome 16 syndrome | UPD(16)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 16 | UPD(16) maternelle · UPD(16)mat |
| de | Uniparentale Disomie 16, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma 16 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 16 | = en |
| nl | Maternale uniparentale disomie van chromosoom 16-syndroom | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 16 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 16 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 16 | = en |
| uk | Материнська уніпарентна дисомія хромосоми 16 | = en |
| zh | 母源性16号染色体单亲二体 | 母源性UPD(16) |
| tr | 16. kromozomun maternal uniparental dizomisi | UPD (16) mat |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD45.0 | NTBT | index | validated |
| MONDO | 0019916 | E | validated | |
| UMLS | C4750769 | 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 (2):
- ORPHA:98153Maternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
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/96185
- This record as JSON: /data/d/96185.json