ORPHA:71290
Familial platelet disorder with associated myeloid malignancy
Synonyms: FPD/AML · FPDMM · FPS/AML · Familial platelet disorder with predisposition to acute myelogenous leukemia · Familial platelet disorder with predisposition to myeloid malignancy · Familial platelet disorder with propensity to acute myeloid leukemia · Familial thrombocytopenia with propensity to acute myelogenous leukemia · RUNX1 familial platelet disorder · RUNX1 familial platelet disorder with associated myeloid malignancies · RUNX1-FPD · RUNX1-FPDMM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial platelet disorder with associated myeloid malignancy | FPD/AML · FPDMM · FPS/AML · Familial platelet disorder with predisposition to acute myelogenous leukemia · Familial platelet disorder with predisposition to myeloid malignancy · Familial platelet disorder with propensity to acute myeloid leukemia · Familial thrombocytopenia with propensity to acute myelogenous leukemia · RUNX1 familial platelet disorder · RUNX1 familial platelet disorder with associated myeloid malignancies · RUNX1-FPD · RUNX1-FPDMM |
| fr | Thrombopénie familiale avec prédisposition à la leucémie aigüe myéloïde | Anomalies plaquettaires familiales avec prédisposition aux leucémies aigües myéloïdes · Anomalies plaquettaires familiales avec prédisposition aux leucémies aigües myéloïdes dû à RUNX1 · FPD/AML · FPDMM · FPS/AML · Thrombopénie familiale avec prédisposition à la LAM |
| de | Familiäre Blutplättchen-Störung mit assoziierter myeloischer Malignität | Familiäre Plättchenerkrankung mit Neigung zu myeloischen Neoplasien · Familiäre Thrombozytenfunktionsstörung mit Prädisposition zu myeloischer Malignität · Familiäre Thrombozytopenie mit Prädisposition für AML · RUNX1-FPD · RUNX1-FPDMM · RUNX1-assoziierte familiäre Blutplättchen-Störungen · RUNX1-assoziierte familiäre Thrombozytopenie · FPD/AML · FPDMM · FPS/AML |
| es | Trastorno plaquetario familiar con neoplasia mieloide asociada | TPF/LMA · Trastorno plaquetario familiar RUNX1 · Trastorno plaquetario familiar RUNX1 con neoplasias mieloides asociadas · Trastorno plaquetario familiar con predisposición a leucemia mielógena aguda · Trastorno plaquetario familiar con predisposición a neoplasia mieloide |
| it | Malattia familiare delle piastrine associata al tumore mieloide | RUNX1-FPDMM · Malattia familiare delle piastrine con predisposizione alla leucemia mieloide acuta · Malattia familiare delle piastrine con predisposizione ai tumori mieloidi · Malattia familiare delle piastrine con tendenza alla leucemia mieloide acuta · Trombocitopenia familiare con predisposizione alla leucemia mieloide acuta · Malattia familiare delle piatrine correlata a RUNX1 · Malattia familiare delle piastrine correlata a RUNX1 associata ai tumori mieloidi · RUNX1-FPD · Sindrome FPD/AML · Sindrome FPS/AML · FPDMM |
| nl | Familiale bloedplaatjesstoornis met geassocieerde myeloïde maligniteit | Familiale trombocytopenie met aanleg voor acute myelogene leukemie · RUNX1 familiale bloedplaatjesstoornis · RUNX1 familiale bloedplaatjesstoornis met geassocieerde myeloïde maligniteiten · RUNX1-FPD · RUNX1-FPDMM · FPD/AML · FPDMM · FPS/AML · Familiale bloedplaatjesstoornis met aanleg voor acute myeloïde leukemie · Familiale bloedplaatjesstoornis met predispositie voor acute myelogene leukemie · Familiale bloedplaatjesstoornis met predispositie voor myeloïde maligniteit |
| pt | Doença plaquetária familiar com malignidade mieloide associada | Doença plaquetária familiar RUNX1 · Doença plaquetária familiar RUNX1 com malignidade mieloide associada · Doença plaquetária familiar com predisposição a leucemia mieloide aguda · Doença plaquetária familiar com predisposição malignidade mieloide · Doença plaquetária familiar com propensão a leucemia mielogénica aguda · FPD/AML · FPDMM · FPS/AML · RUNX1-FPD · RUNX1-FPDMM |
| pl | Zespół dziedzicznej małopłytkowości z prawidłowymi płytkami i predyspozycją do nowotworów krwi | Rodzinny zespół płytek z predyspozycją do ostrej białaczki szpikowej · Zespół FPD/AML · Zespół FPS/AML |
| cs | Familiární destičkový syndrom s predispozicí k akutní myeloidní leukémii | FDP/AML syndrom · FPS/AML syndrom · Familiární porucha destiček s asociovanou myeloidní malignitou · Familiární destičkový syndrom |
| uk | Сімейне захворювання тромбоцитів з асоційованою мієлоїдною злоякісністю | Сімейне захворювання тромбоцитів зі схильністю до гострої мієлогенної лейкемії · Сімейне захворювання тромбоцитів зі схильністю до мієлоїдної злоякісності · Сімейне захворювання тромбоцитів зі схильністю до гострої мієлоїдної лейкемії · Сімейна тромбоцитопенія зі схильністю до гострої мієлогенної лейкемії · FPD/AML · FPDMM · FPS/AML |
| zh | 家族性血小板疾病伴相关髓系恶性肿瘤 | FPS/AML |
| tr | İlişkili miyeloid malignite ile seyreden ailesel trombosit bozukluğu | Miyeloid maligniteye yatkınlığı olan ailesel trombosit bozukluğu · Akut miyeloid lösemiye yatkın ailesel trombosit bozukluğu · Akut miyelojenöz lösemiye eğilim ile seyreden ailesel trombositopeni · Akut miyelojenöz lösemiye yatkınlık ile seyreden ailesel trombosit bozukluğu · FPDMM · FPD / AML · FPS / AML |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601399 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.3 | NTBT | index | validated |
| MONDO | 0011071 | E | validated | |
| MONDO | 11071 | E | validated | |
| MeSH | C563324 | E | validated | |
| UMLS | C1832388 | E | validated | |
| GARD | 10352 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98456Dense granule disease
rare genetic diseases; rare hematological diseases - ORPHA:619340Inherited hematologic cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:477797Isolated constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:477697OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RUNX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10471 | ENSG00000159216 | 151385 | 21q22.12 | RUNX family transcription factor 1 | 30600763[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 259 cases | Worldwide | Case(s) | Validated | 39822584[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39822584[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71290
- This record as JSON: /data/d/71290.json