ORPHA:96190
Paternal uniparental disomy of chromosome 5 syndrome
Synonyms: UPD(5)pat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal uniparental disomy of chromosome 5 syndrome | UPD(5)pat |
| fr | Syndrome de disomie uniparentale paternelle du chromosome 5 | UPD(5) paternelle · UPD(5)pat |
| de | Uniparentale Disomie 5, paternale | = en |
| es | Síndrome de disomía uniparental paterna del cromosoma 5 | = en |
| it | Sindrome disomia uniparentale paterna del cromosoma 5 | = en |
| nl | Paternale uniparentale disomie van chromosoom 5-syndroom | = en |
| pt | Dissomia uniparental de origem paterna, cromossoma 5 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 5 pochodzenia ojcowskiego | = en |
| cs | Paternální uniparentální dizomie chromozomu 5 | = en |
| uk | Батькова уніпарентна дисомія хромосоми 5 | = en |
| zh | 父源性5号染色体单亲二体 | 父源性UPD(5) |
| tr | 5. kromozomun paternal uniparental dizomisi | UPD (5) pat |
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 | LD45.1 | NTBT | index | validated |
| MONDO | 0019920 | E | validated | |
| UMLS | C4749377 | 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:98154Paternal 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
0 recordsNo prevalence record in this release.
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HPO phenotypes
13 annotations · validated 2017-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010593 | Abnormality of fibular epiphyses | |
| HP:0001090 | Abnormally large globe | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| HP:0001561 | Polyhydramnios | |
| HP:0011327 | Posterior plagiocephaly | |
| HP:0000075 | Renal duplication | |
| HP:0004991 | Rhizomelic arm shortening | |
| HP:0100753 | Schizophrenia | |
| HP:0001684 | Secundum atrial septal defect | |
| HP:0006385 | Short lower limbs | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24458706[PMID]_16763011[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96190
- This record as JSON: /data/d/96190.json