Bone marrow failure syndrome: genes and variants
Bone marrow failure syndrome is linked to 2 analyzed proteins (TP53 and MDM4). 1 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Bone marrow failure syndrome 5; bone marrow failure syndrome 6
Genes linked to Bone marrow failure syndrome
TP53: Cellular tumor antigen p53
It coordinates transcriptional responses to DNA damage and other cellular stresses, promoting cell-cycle arrest, senescence, DNA repair, or apoptosis when appropriate. Loss of this tumor-suppressive control is one of the most common events in cancer, while germline pathogenic variants cause Li-Fraumeni syndrome.
1 disease-causing and 2 uncertain variants in TP53 are linked to Bone marrow failure syndrome.
MDM4: Protein Mdm4
It suppresses p53 transcriptional and apoptotic activity, cooperating with MDM2 to limit stress responses. Amplification or overexpression can provide an alternative route to p53 inactivation in tumors that retain wild-type TP53.
0 disease-causing and 3 uncertain variants in MDM4 are linked to Bone marrow failure syndrome.
Known disease-causing variants in Bone marrow failure syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TP53 K132R | 132 | DNA binding | Disease-causing (★★) |
Same protein, different disease
- Li-Fraumeni syndrome is also caused by TP53 variants; they fall mostly in different places as the Bone marrow failure syndrome variants (188 disease-causing).
- Adrenocortical carcinoma, hereditary is also caused by TP53 variants; they fall mostly in different places as the Bone marrow failure syndrome variants (23 disease-causing).
- Acute myeloid leukemia is also caused by TP53 variants; they fall mostly in different places as the Bone marrow failure syndrome variants (6 disease-causing).
- Familial cancer of breast is also caused by TP53 variants; they fall mostly in different places as the Bone marrow failure syndrome variants (5 disease-causing).
- Glioma susceptibility 1 is also caused by TP53 variants; they fall mostly in different places as the Bone marrow failure syndrome variants (5 disease-causing).
Diseases related to Bone marrow failure syndrome
- Li-Fraumeni syndrome, also linked to TP53
- Acute myeloid leukemia, also linked to TP53
- Familial cancer of breast, also linked to TP53
- Adrenocortical carcinoma, hereditary, also linked to TP53
- Colorectal cancer, also linked to TP53
- Gastric cancer, also linked to TP53
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to TP53
- Glioma susceptibility 1, also linked to TP53
- Hereditary breast ovarian cancer syndrome, also linked to TP53
- Ovarian neoplasm, also linked to TP53
- Multiple myeloma, also linked to TP53
- Lung adenocarcinoma, also linked to TP53
Frequently asked questions
Which genes are linked to Bone marrow failure syndrome?
In CATVariant, Bone marrow failure syndrome is linked to 2 analyzed proteins: TP53 (Cellular tumor antigen p53) and MDM4 (Protein Mdm4).
How many genetic variants are linked to Bone marrow failure syndrome?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bone marrow failure syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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