Maternal uniparental disomy of chromosome 2 syndrome
Synonyms: UPD(2)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Maternal uniparental disomy of chromosome 2 is an 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome 2 syndrome | UPD(2)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 2 | UPD(2) maternelle · UPD(2)mat |
| de | Uniparentale Disomie 2, maternale | UPDM 2 |
| es | Síndrome de disomía uniparental materna del cromosoma 2 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 2 | = en |
| nl | Maternale uniparentale disomie van chromosoom 2-syndroom | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 2 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 2 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 2 | = en |
| uk | Материнська уніпарентна дисомія хромосоми 2 | = en |
| zh | 母源性2号染色体单亲二体 | 母源性UPD(2) |
| tr | 2. kromozom'nin maternal uniparental dizomisi | UPD (2) 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 | 0019910 | E | validated | |
| UMLS | C4707718 | 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:98153Maternal 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
0 recordsNo prevalence record in this release.
HPO phenotypes
28 annotations · validated 2017-05-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001560 | Abnormality of the amniotic fluid | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0005781 | Contractures of the large joints | |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein | |
| HP:0000821 | Hypothyroidism | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001562 | Oligohydramnios | |
| Occasional (29-5%) | ||
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0008440 | C1-C2 vertebral abnormality | |
| HP:0000041 | Chordee | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000047 | Hypospadias | |
| HP:0002721 | Immunodeficiency | |
| HP:0001763 | Pes planus | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001622 | Premature birth | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000110 | Renal dysplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0004880 | Respiratory infections in early life | |
| HP:0000546 | Retinal degeneration | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0005268 | Spontaneous abortion | |
| Very rare (<4-1%) | ||
| HP:0001263 | Global developmental delay | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 8533806[PMID]_23167750[PMID]_23276565[PMID]_24075380[PMID]_24243683[PMID]_8938070[PMID]_9178319[PMID]_9178319[PMID]_11746120[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96179
- This record as JSON: /data/d/96179.json