Inherited acute myeloid leukemia
Synonyms: Familial AML · Inherited AML · Pure familial AML · Pure familial acute myeloid leukemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited acute myeloid leukemia | Familial AML · Inherited AML · Pure familial AML · Pure familial acute myeloid leukemia |
| fr | Leucémie aiguë myéloïde héréditaire | AML familiale · AML héréditaire · LAM familiale · LAM héréditaire · Leucémie aiguë myéloblastique familiale · Leucémie aiguë myéloblastique héréditaire · Leucémie aiguë myéloïde familiale |
| de | Akute myeloische Leukämie, vererbte | AML, familiäre · AML, familiäre reine · AML, vererbte · Reine familiäre akute myeloische Leukämie |
| es | Leucemia mieloide aguda hereditaria | Leucemia mieloide aguda familiar pura · MLA familiar · MLA familiar pura · MLA hereditaria |
| it | Leucemia mieloide acuta ereditaria | AML ereditaria · AML familiare · AML familiare pura · Leucemia mieloide acuta familiare pura |
| nl | Erfelijke acute myeloïde leukemie | Erfelijke AML · Familiale AML · Zuivere familiale AML · Zuivere familiale acute myeloïde leukemie |
| pt | Leucemia mielóide aguda hereditária | |
| pl | Dziedziczna ostra białaczka szpikowa | Czysta rodzinna AML · Czysta rodzinna ostra białaczka szpikowa · Dziedziczna AML · Rodzinna AML |
| cs | Vrozená akutní myeloidní leukémie | Familiární AML · Vrozená AML · Čistá familiární AML · Čistá familiární akutní myeloidní leukémie |
| uk | Спадкова гостра мієлоїдна лейкемія | Сімейний ГМЛ · Успадкований ГМЛ · Чистий сімейний гострий мієлоїдний лейкоз · Чистий сімейний ГМЛ |
| zh | 遗传性急性髓系白血病 | 单纯性家族性急性髓系白血病 |
| tr | Kalıtsal akut miyeloid lösemi | Ailesel AML · Kalıtsal AML · Saf ailesel AML · Saf ailesel akut miyeloid lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601626 | NTBT | validated | |
| ICD-10 | C92.0 | NTBT | attributed | validated |
| ICD-11 | 2A60.Y | NTBT | attributed | validated |
| MONDO | 0017893 | E | validated | |
| UMLS | C4707228 | 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 (3):
- ORPHA:519Acute myeloid leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:322126Genetic tumor of hematopoietic and lymphoid tissues
rare genetic diseases - ORPHA:619340Inherited hematologic cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEBPA | Disease-causing germline mutation(s) in | Assessed | HGNC:1833 | ENSG00000245848 | 116897 | 19q13.11 | CCAAT enhancer binding protein alpha | 22649106[PMID] |
| ERCC6L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26922 | ENSG00000182150 | 615667 | 9q22.32 | ERCC excision repair 6 like 2 | 30936069[PMID] |
| TGM6 | Disease-causing germline mutation(s) in | Assessed | HGNC:16255 | ENSG00000166948 | 613900 | 20p13 | transglutaminase 6 | 24755948[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319465
- This record as JSON: /data/d/319465.json