Paternal uniparental disomy of chromosome 7 syndrome
Synonyms: UPD(7)pat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood, Infancy
- Status
- active
Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal uniparental disomy of chromosome 7 syndrome | UPD(7)pat |
| fr | Syndrome de disomie uniparentale paternelle du chromosome 7 | UPD(7) paternelle · UPD(7)pat |
| de | Uniparentale Disomie 7, paternale | UPDP 7 |
| es | Síndrome de disomía uniparental paterna del cromosoma 7 | = en |
| it | Sindrome disomia uniparentale paterna del cromosoma 7 | = en |
| nl | Paternale uniparentale disomie van chromosoom 7-syndroom | = en |
| pt | Dissomia uniparental de origem paterna, cromossoma 7 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 7 pochodzenia ojcowskiego | = en |
| cs | Paternální uniparentální dizomie chromozomu 7 | = en |
| uk | Батькова уніпарентна дисомія хромосоми 7 | = en |
| zh | 父源性7号染色体单亲二体 | 父源性UPD(7) |
| tr | 7. kromozomun paternal uniparental dizomisi | UPD (7) pat |
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 | 0019922 | E | validated | |
| UMLS | C4707802 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 17935233[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17935233[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/96192
- This record as JSON: /data/d/96192.json