Features include always present findings: Bone marrow hypocellularity; and common findings: Persistence of hemoglobin F, Chronic fatigue, Larger than normal red blood cells (increased mean corpuscular volume), and Myalgia. 13 total HPO annotations.

MDM4 encodes MDM4 regulator of p53 (490 aa). Contributes to p53/TP53 regulation. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding their transcriptional activation domains. Inhibits degradation of MDM2. Highest expression in Ovary (30.6 TPM) and Spleen (29.0 TPM).

Bone marrow failure syndrome 6 has been associated with mutations in the MDM4 gene on chromosome 1.

MDM4 is classified as a druggable target (Clinically Actionable, Druggable Genome, and Tumor Suppressor categories) with score 2.9.

Genetic testing for MDM4 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for bone marrow failure syndrome 6 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 4 common features.

No clinical trials have been registered for bone marrow failure syndrome 6.

201 publications have been identified in PubMed for bone marrow failure syndrome 6. Kisho has analyzed 83 by research type. Research spans Basic Science / Preclinical (29%), Epidemiology / Natural History (23%), and Clinical Trial Publication (20%).