ORPHA:97678
Maternal uniparental disomy of chromosome 13 syndrome
Synonyms: UPD(13)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome 13 syndrome | UPD(13)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 13 | UPD(13) maternelle · UPD(13)mat |
| de | Uniparentale Disomie 13, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma 13 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 13 | = en |
| nl | Maternale uniparentale disomie van chromosoom 13-syndroom | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 13 | |
| pl | ZespZespół jednorodzicielskiej disomii chromosomu 13 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 13 | = en |
| uk | Материнська уніпарентна дисомія хромосоми 13 | = en |
| zh | 母系13号染色体单亲二体型 | 母源性UPD(13) |
| tr | 13. kromozomun maternal uniparental dizomisi | UPD (13)mat |
Definition in:
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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 | 0019994 | E | validated | |
| UMLS | C4722325 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97678
- This record as JSON: /data/d/97678.json