ORPHA:96183
Maternal uniparental disomy of chromosome 9 syndrome
Synonyms: UPD(9)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome 9 syndrome | UPD(9)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 9 | UPD(9) maternelle · UPD(9)mat |
| de | Uniparentale Disomie 9, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma 9 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 9 | = en |
| nl | Maternale uniparentale disomie van chromosoom 9-syndroom | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 9 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 9 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 9 | = en |
| uk | Материнська уніпарентна дисомія хромосоми 9 | = en |
| zh | 母源性9号染色体单亲二体 | 母源性UPD(9) |
| tr | 9. kromozomun maternal uniparental dizomisi | UPD (9) mat |
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 | LD45.0 | NTBT | index | validated |
| MONDO | 0019914 | E | validated | |
| UMLS | C4707721 | 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:98153Maternal 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
21 annotations · validated 2017-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001558 | Decreased fetal movement | |
| HP:0003070 | Elbow ankylosis | |
| HP:0000324 | Facial asymmetry | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0003089 | Hamstring contractures | |
| HP:0001795 | Hyperconvex nail | |
| HP:0002546 | Incomprehensible speech | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0040188 | Osteochondrosis | |
| HP:0002999 | Patellar dislocation | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0000851 | Congenital hypothyroidism | |
| HP:0007973 | Retinal dysplasia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 1433238[PMID]_8734817[PMID]_20484477[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96183
- This record as JSON: /data/d/96183.json