14q32 duplication syndrome
Synonyms: Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication · Trisomy 14q32
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 14q32 duplication syndrome | Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication · Trisomy 14q32 |
| fr | Syndrome de duplication 14q32 | Dup(14)q(32) · Prédisposition à un néoplasme myéloprolifératif dû à une duplication 14q32 · Trisomie 14q32 |
| de | 14q32-Duplikationssyndrom | Dup(14)q(32) · Prädisposition für myeloproliferate Neoplasien mit Beginn im Erwachsenenalter durch Duplikation 14q32 · Trisomie 14q32 |
| es | Síndrome de duplicación 14q32 | Dup(14)q(32) · Predisposición a neoplasia mieloproliferativa de inicio en el adulto por duplicación 14q32 · Trisomía 14q32 |
| it | Sindrome da duplicazione 14q32 | |
| nl | 14q32-duplicatiesyndroom | Dup(14)(q32) · Predispositie voor myeloproliferatief neoplasma met aanvang op volwassen leeftijd door 14q32-duplicatie · Trisomie 14q32 |
| pt | Síndrome de duplicação 14q32 | |
| pl | Zespół duplikacji 14q32 | Dup(14)q(32) · Trisomia 14q32 · Predyspozycja do nowotworu mieloproliferacyjnego wieku dorosłego z powodu duplikacji 14q32 |
| cs | Syndrom duplikace 14q32 | Dup(14)q(32) · Trizomie 14q32 · Predispozice k myeloproliferativnímu novotvaru s nástupem v dospělosti způsobená duplikací 14q32 |
| uk | Синдром дуплікації 14q32 | Dup(14)q(32) · Схильність до мієлопроліферативних новоутворень у дорослому віці через дуплікацію 14q32 · Трисомія 14q32 |
| zh | 14q32重复综合征 | 14q32重复导致的成人易感性骨髓增生性肿瘤 |
| tr | 14q32 duplikasyon sendromu | Dup(14)q(32) · Trizomi14q32 · 14q32 duplikasyonu nedeniyle erişkin başlangıçlı miyeloproliferatif neoplazmaya yatkınlık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616604 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0014707 | E | validated | |
| UMLS | C4225449 | 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 (2):
- ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:262941Partial duplication of the long arm of chromosome 14 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 | 33 cases | Worldwide | Case(s) | Validated | 26280900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26280900[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488280
- This record as JSON: /data/d/488280.json