Paternal uniparental disomy of chromosome X syndrome
Synonyms: UPD(X)pat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paternal uniparental disomy of chromosome X syndrome | UPD(X)pat |
| fr | Syndrome de disomie uniparentale paternelle du chromosome x | UPD(X) paternelle · UPD(X)pat |
| de | Uniparentale Disomie X, paternale | = en |
| es | Síndrome de disomía uniparental paterna del cromosoma X | = en |
| it | Sindrome disomia uniparentale paterna del cromosoma X | = en |
| nl | Paternale uniparentale disomie van chromosoom X-syndroom | = en |
| pt | Dissomia uniparental paterna do cromossoma X | |
| pl | Zespół jednorodzicielskiej disomii chromosomu X pochodzenia ojcowskiego | = en |
| cs | Paternální uniparentální dizomie chromozomu X | = en |
| uk | Однобатьківська батькова дисомія хромосоми Х | = en |
| zh | 父源X染色体单亲二倍体 | = en |
| tr | Paternal X kromozomu uniparental dizomisi | UPD (X) 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 | 0016852 | E | validated | |
| UMLS | C5191049 | 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:263793Uniparental disomy of chromosome X 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
18 annotations · validated 2015-11-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0002967 | Cubitus valgus | |
| HP:0008734 | Decreased testicular size | |
| HP:0100853 | Hypoplastic areola | |
| HP:0001252 | Hypotonia | |
| HP:0000789 | Infertility | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002162 | Low posterior hairline | |
| HP:0000054 | Micropenis | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000914 | Shield chest | |
| HP:0010049 | Short metacarpal | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20720308[PMID]_8281147[PMID]_11950856[PMID]_8370585[PMID]_15957160[PMID]_14688173[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261524
- This record as JSON: /data/d/261524.json