Maternal uniparental disomy of chromosome 21 syndrome
Synonyms: UPD(21)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- active
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier 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 21 syndrome | UPD(21)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 21 | UPD(21) maternelle · UPD(21)mat |
| de | Uniparentale Disomie 21, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma 21 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 21 | = en |
| nl | Maternale uniparentale disomie van chromosoom 21-syndroom | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 21 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 21 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 21 | = en |
| uk | Материнська уніпарентна дисомія хромосоми 21 | = en |
| zh | 母源性21号染色体单亲二体 | 母源性UPD(21) |
| tr | 21. kromozomun maternal uniparental dizomisi | UPD (21) 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 | 0019918 | E | validated | |
| UMLS | C5190523 | 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:98153Maternal 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 | 2 cases | Worldwide | Case(s) | Validated | ISBN:978-3-642-55287-8[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ISBN:978-3-642-55287-8[OTHER] |
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/96187
- This record as JSON: /data/d/96187.json