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congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

MONDO:0033683

Also known as:MYSM1 deficiency

Overview

ResearchLimited published research (5 articles)

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 very common findings: Low red blood cell count (anemia) and Bone marrow hypocellularity; and common findings: Coarse facial features, Intellectual disability, Congestive heart failure, and Low platelet count (thrombocytopenia) and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	7	Low red blood cell count (anemia), Low platelet count (thrombocytopenia), Decreased total neutrophil count

Prognosis

Phenotype severity distribution: 2 very common features, 17 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome.

5 publications have been identified in PubMed for congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Gene Therapy / Novel Therapeutics (20%).

Recent Publications

Qian Le Boh GV (2026). [PMID: 41510005](https://pubmed.ncbi.nlm.nih.gov/41510005/). *Kidney medicine*. [Case Report / Case Series]
Akbalık Kara M (2026). [PMID: 41378764](https://pubmed.ncbi.nlm.nih.gov/41378764/). *Balkan Med J*. [Case Report / Case Series]
Lee HW (2025). [PMID: 41078208](https://pubmed.ncbi.nlm.nih.gov/41078208/). *Clinical laboratory*. [Case Report / Case Series]
de Tocqueville S (2024). [PMID: 39233474](https://pubmed.ncbi.nlm.nih.gov/39233474/). *British journal of haematology*. [Gene Therapy / Novel Therapeutics]
Qin Q (2024). [PMID: 39684760](https://pubmed.ncbi.nlm.nih.gov/39684760/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:508542

GARD

Genetic and Rare Diseases Info Center

GARD:22071

Questions for Your Care Team

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congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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