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bone marrow failure syndrome 4 (BMFS4) - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
bone marrow failure syndrome 4
MONDO:0020856
Also known as:BMFS4
Overview
GeneticsAutosomal recessive · MYSM1 (chr 1)
ResearchLimited published research (1 article)
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include rarely findings: Microcephaly, Global developmental delay, Abnormal facial shape, and Low platelet count (thrombocytopenia). 15 total HPO annotations.
Organ System
Phenotype Count
Example Features
Blood and immune system
4
Low white blood cell count (decreased total leukocyte count), Low red blood cell count (anemia), Recurrent respiratory infections
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
MYSM1 encodes Myb like, SWIRM and MPN domains 1 (828 aa). Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response. Highest expression in Nerve Tibial (31.8 TPM) and Uterus (29.7 TPM).
Bone marrow failure syndrome 4 is caused by mutations in the MYSM1 gene on chromosome 1.
The MYSM1 protein participates in MYSM1:EP300:KAT2B:Histone H2A and MYSM1:EP300:KAT2B:Ub-histone H2A pathways.
MYSM1 is classified as a druggable target (Protease category) with score 0.0.
Diagnosis
Genetic testing for MYSM1 is available. Testing is considered confirmatory for diagnosis.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for bone marrow failure syndrome 4.
1 publication has been identified in PubMed for bone marrow failure syndrome 4. Research spans Case Report / Case Series (100%).
Recent Publications
Haroon A (2025). [PMID: 40535318](https://pubmed.ncbi.nlm.nih.gov/40535318/). *Clinical hematology international*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:21 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
Gene therapy has shown promising results for several inherited blood disorders, including sickle cell disease, beta thalassemia, and hemophilia. Researchers are also studying its potential use in certain bone marrow failure syndromes, immune deficiencies, and other rare genetic blood disorders. While these treatments have significantly improved survival and quality of life, they do not eliminate the genetic defect responsible for the disease. Today, that approach is changing. Gene therapy has emerged as one of the most significant advances in modern hematology, offering the possibility of treating certain blood disorders at their genetic source. Instead of repeatedly managing symptoms, gene therapy aims to repair, replace, or modify faulty genes so the body can produce healthy blood cells. This breakthrough is transforming how hematologists think about inherited blood diseases and is opening new possibilities for patients who previously had limited treatment options. Although gene therapy is still evolving and is not suitable for every patient or every blood disorder, its success in conditions such as sickle cell disease and beta thalassemia has marked the beginning of a new era in precision medicine. Gene therapy is an advanced medical treatment designed to correct diseases caused by abnormal or faulty genes. Rather than treating the consequences of a disease, it targets the genetic error itself. Many inherited blood disorders develop because a single mutation affects how blood cells are formed or function. Over time, healthy blood cells gradually replace the abnormal ones, reducing disease-related complications and improving blood cell function. Gene therapy has shown the greatest success in inherited blood disorders caused by single-gene mutations. It has been used successfully for decades and remains the standard curative treatment for many conditions, including thalassemia, sickle cell disease, aplastic anemia, leukemia, lymphoma, and several inherited bone marrow failure syndromes. Gene therapy, on the other hand, modifies the patient’s own stem cells before returning them to the body. Since no donor is required, it eliminates the risk of donor mismatch and significantly reduces the possibility of graft-versus-host disease. However, gene therapy is currently available only for selected genetic blood disorders and remains inaccessible for many patients due to limited availability and high treatment costs.
