Maternal uniparental disomy of chromosome 1 syndrome
Synonyms: UPD(1)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Maternal uniparental disomy of chromosome 1 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 1 syndrome | UPD(1)mat |
| fr | Syndrome de disomie uniparentale d'origine maternelle du chromosome 1 | UPD(1) maternelle · UPD(1)mat |
| de | Uniparentale Disomie 1, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma 1 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 1 | = en |
| nl | Maternale uniparentale disomie van chromosoom 1-syndroom | = en |
| pt | Dissomia uniparental materna do cromossoma 1 | UPD1 materna |
| pl | Zespół jednorodzicielskiej disomii chromosomu 1 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 1 | UDP(1)mat |
| uk | Материнська уніпарентна дисомія хромосоми 1 | = en |
| zh | 母源1号染色体单亲二体 | 母源1号染色体单亲二倍体 |
| tr | 1. kromozomun maternal uniparental dizomisi | UPD (1) 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 | 0016651 | E | validated | |
| UMLS | C4749302 | 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
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:0002813 | Abnormality of limb bone morphology | |
| HP:0001251 | Ataxia | |
| HP:0000717 | Autism | |
| HP:0000518 | Cataract | |
| HP:0001476 | Delayed closure of the anterior fontanelle | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0001876 | Pancytopenia | |
| HP:0003139 | Panhypogammaglobulinemia | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0002191 | Progressive spasticity | |
| HP:0002719 | Recurrent infections | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000319 | Smooth philtrum | |
| HP:0001883 | Talipes | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0009909 | Uplifted earlobe | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 9326326[PMID]_9758608[PMID]_17702006[PMID]_20583171[PMID]_22689986[PMID]_23684670[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251009
- This record as JSON: /data/d/251009.json