Maternal uniparental disomy of chromosome X syndrome
Synonyms: UPD(X)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A uniparental disomy of maternal 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 mother is a carrier and specific phenotype depends on the inherited disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome X syndrome | UPD(X)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome x | UPD(X) maternelle · UPD(X)mat |
| de | Uniparentale Disomie X, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma X | = en |
| it | Sindrome disomia uniparentale materna del cromosoma X | = en |
| nl | Maternale uniparentale disomie van chromosoom X-syndroom | = en |
| pt | Dissomia uniparental materna do cromossoma X | |
| pl | Zespół jednorodzicielskiej disomii chromosomu X pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu X | = en |
| uk | Однобатьківська материнська дисомія хромосоми Х | = en |
| zh | 母源X染色体单亲二倍体 | = en |
| tr | Maternal X kromozomu uniparental dizomisi | UPD (X) mat |
Definition in:
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 | 0016851 | E | validated | |
| UMLS | C5191056 | 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
26 annotations · validated 2015-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001635 | Congestive heart failure | |
| HP:0002967 | Cubitus valgus | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001371 | Flexion contracture | |
| HP:0001263 | Global developmental delay | |
| HP:0001399 | Hepatic failure | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001249 | Intellectual disability | |
| HP:0003186 | Inverted nipples | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0001838 | Rocker bottom foot | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000914 | Shield chest | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000027 | Azoospermia | |
| HP:0003248 | Gonadal tissue inappropriate for external genitalia or chromosomal sex | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8554052[PMID]_24434812[PMID]_8981959[PMID]_8540683[PMID]_8362910[PMID]_26043854[PMID]_2893543[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261519
- This record as JSON: /data/d/261519.json