Paternal uniparental disomy of chromosome 1 syndrome
Synonyms: UPD(1)pat
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Paternal uniparental disomy of chromosome 1 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal uniparental disomy of chromosome 1 syndrome | UPD(1)pat |
| fr | Syndrome de disomie uniparentale d'origine paternelle du chromosome 1 | UPD(1) paternelle · UPD(1)pat |
| de | Uniparentale Disomie 1, paternale | = en |
| es | Síndrome de disomía uniparental paterna del cromosoma 1 | = en |
| it | Sindrome disomia uniparentale paterna del cromosoma 1 | = en |
| nl | Paternale uniparentale disomie van chromosoom 1-syndroom | = en |
| pt | Dissomia uniparental paterna do cromossoma 1 | UPD1 paterna |
| pl | Zespół jednorodzicielskiej disomii chromosomu 1 pochodzenia ojcowskiego | = en |
| cs | Paternální uniparentální dizomie chromozomu 1 | UDP(1)pat |
| uk | Батькова уніпаретна дисомія хромосоми 1 | = en |
| zh | 父源1号染色体单亲二体 | 父源1号染色体单亲二倍体 |
| tr | 1. kromozomun paternal uniparental dizomisi | UPD (1) 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 | 0016650 | E | validated | |
| UMLS | C4707800 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
29 annotations · validated 2017-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0030612 | Abnormal retinal morphology on macular OCT | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000970 | Anhidrosis | |
| HP:0012444 | Brain atrophy | |
| HP:0001363 | Craniosynostosis | |
| HP:0000823 | Delayed puberty | |
| HP:0007641 | Dyschromatopsia | |
| HP:0000105 | Enlarged kidney | |
| HP:0004802 | Episodic hemolytic anemia | |
| HP:0003072 | Hypercalcemia | |
| HP:0000822 | Hypertension | |
| HP:0003138 | Increased blood urea nitrogen | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0007754 | Macular dystrophy | |
| HP:0000793 | Membranoproliferative glomerulonephritis | |
| HP:0001336 | Myoclonus | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001513 | Obesity | |
| HP:0007021 | Pain insensitivity | |
| HP:0000613 | Photophobia | |
| HP:0002591 | Polyphagia | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0000529 | Progressive visual loss | |
| HP:0000093 | Proteinuria | |
| HP:0002757 | Recurrent fractures | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
Annotation source: 21270828[PMID]_17277736[PMID]_11071380[PMID]_10951251[PMID]_15663509[PMID]_21270828[PMID]_24334170[PMID]_26846731[PMID]_23275530[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251004
- This record as JSON: /data/d/251004.json