Maternal uniparental disomy of chromosome 6 syndrome
Synonyms: UPD(6)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome 6 syndrome | UPD(6)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 6 | UPD(6)mat · UPD(6) maternelle |
| de | Uniparentale Disomie 6, maternale | = en |
| es | Síndrome de disomía uniparental materna del cromosoma 6 | = en |
| it | Sindrome disomia uniparentale materna del cromosoma 6 | = en |
| nl | Maternale uniparentale disomie van chromosoom 6-syndroom | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 6 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 6 pochodzenia matczynego | = en |
| cs | Maternální uniparentální dizomie chromozomu 6 | = en |
| uk | Материнська уніпарентна дисомія хромосоми 6 | = en |
| zh | 母源性6号染色体单亲二体 | 母源性UPD(6) |
| tr | 6. kromozomun maternal uniparental dizomisi | UPD (6) 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 | 0019912 | E | validated | |
| UMLS | C4707720 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 27922284[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27922284[PMID] |
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
21 annotations · validated 2017-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000034 | Hydrocele testis | |
| HP:0002721 | Immunodeficiency | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000529 | Progressive visual loss | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0003100 | Slender long bone | |
| HP:0005268 | Spontaneous abortion | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000325 | Triangular face | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002805 | Accelerated bone age after puberty | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0008258 | Congenital adrenal hyperplasia | |
| HP:0002194 | Delayed gross motor development | |
| HP:0030088 | Increased serum testosterone level | |
Annotation source: 25633059[PMID]_23499059[PMID]_21166787[PMID]_20583164[PMID]_16906568[PMID]_16470696[PMID]_11334617[PMID]_10541311[PMID]_8655360[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96181
- This record as JSON: /data/d/96181.json