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Inherited acute myeloid leukemia

Disease Export to PDF
Name:
Inherited acute myeloid leukemia
Description:
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.
ORPHAcode:
319465
Synonyms:
Familial AML
Inherited AML
Pure familial AML
Pure familial acute myeloid leukemia
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
CEBPA
TGM6
ERCC6L2
GATA2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hematologic Familiar Forms - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RPS7 88.11 0 No
    CHEK2 80.48 0 No
    PTPN11 95.76 0 No
    KRAS 96.88 0 No
    RPS10 98.48 0 No
    FANCM 97.86 0 No
    RPL35A 98.16 0 No
    RPS24 98.39 0 No
    ANKRD26 100.00 0 Genomic start 27389256 to genomic end 27389427 UTR position
    RPL5 96.83 0 No
    SHQ1 97.53 0 No
    RPS26 98.64 0 No
    SRP72 97.98 0 No
    FANCL 98.99 0 No
    EGLN1 98.71 0 No
    JAK2 97.81 0 No
    DNAJC21 98.55 0 No
    NF1 96.15 0 No
    BLM 98.77 0 No
    SBF2 99.19 0 No
    MSH2 98.36 0 No
    ATM 98.90 0 No
    ERCC4 98.33 0 No
    RPL11 99.02 0 No
    NBN 99.57 0 No
    PMS2 98.87 0 No
    ATG2B 99.33 0 No
    BRCA2 99.11 0 No
    ERCC6L2 99.48 0 No
    ATR 99.19 0 No
    VPS45 99.60 0 No
    SRP54 99.44 0 No
    SBDS 96.51 0 No
    UBE2T 98.01 0 No
    RBM8A 99.34 0 No
    RAD51C 99.83 0 No
    FANCC 99.72 0 No
    FANCD2 99.00 0 No
    BRIP1 99.61 0 No
    BRCA1 99.80 0 No
    CEBPA 99.48 0 No
    PARN 99.84 0 No
    MSH6 99.84 0 No
    MECOM 99.83 0 No
    PALB2 99.80 0 No
    FANCE 97.83 0 No
    PAX5 99.72 0 No
    RAD51 99.94 0 No
    ATRX 99.85 0 No
    FANCB 99.61 0 No
    FANCI 99.66 0 No
    STN1 99.75 0 No
    NHP2 99.79 0 No
    MLH1 99.86 0 No
    TERT 100.00 0 Genomic start 1295105 to genomic end 1295162 UTR position
    XRCC2 99.97 0 No
    FANCA 99.93 0 No
    EPAS1 99.62 0 No
    TET2 99.97 0 No
    HAX1 99.98 0 No
    SLX4 99.98 0 No
    CBL 99.87 0 No
    WAS 99.90 0 No
    USB1 100.00 0 No
    EPO 99.99 0 No
    VHL 99.98 0 No
    MAD2L2 100.00 0 No
    RUNX1 99.94 0 No
    CTC1 99.99 0 No
    GSKIP 99.99 0 No
    DKC1 100.00 0 Genomic start 153991031 to genomic end 153991240 UTR position
    SAMD9L 99.96 0 No
    MPL 99.99 0 No
    ETV6 100.00 0 No
    LIG4 99.98 0 No
    NOP10 99.99 0 No
    G6PC3 100.00 0 No
    CSF3R 100.00 0 No
    SAMD9 100.00 0 No
    ELANE 100.00 0 No
    GATA2 100.00 0 No
    RPS19 100.00 0 No
    GFI1 100.00 0 No
    FANCF 100.00 0 No
    TPP1 99.99 0 No
    FANCG 100.00 0 No
    WRAP53 100.00 0 No
    TP53 100.00 0 No
    TINF2 100.00 0 No
    EPOR 100.00 0 No
    DDX41 100.00 0 No
    THPO 100.00 0 No
    TERC 100.00 0 Genomic start 169482849 to genomic end 169483098 UTR position
    RTEL1 100.00 0 Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS