bone marrow failure syndrome - Symptoms, Causes & Research | Kisho | Kisho

bone marrow failure syndrome

Rare Disease

MONDO:0000159

Genes

Clinical Trials

137 active

Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

QC Validated

Evidence base: Early

Find Clinical TrialsTrials

Associated Genes

8 genes

TP53 MYSM1 DNAJC21 MDM4 ADH5 SRP72 ERCC6L2 SLC30A7

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

8 genes

TP53 MYSM1 DNAJC21 MDM4 ADH5 SRP72 ERCC6L2 SLC30A7

Gene data from HGNC • Click to view on NCBI Gene

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(3 data sources · Data coverage: Limited)

Overview

Bone marrow failure syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

The associated genes include TP53, MYSM1, DNAJC21, MDM4, ADH5, SRP72, ERCC6L2, and SLC30A7. Currently, there are no orphan drug designations under investigation for this condition. Information regarding inheritance patterns and known symptoms is not available.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand potential hereditary aspects of the condition. Connecting with rare disease registries, such as NORD or Orphanet, may provide additional resources and support. Finding specialists experienced with bone marrow failure syndromes can also be beneficial.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

8 genes

TP53 MYSM1 DNAJC21 MDM4 ADH5 SRP72 ERCC6L2 SLC30A7

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

137

Active Trials

533

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 31, 2026

Support

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Help patients and families find support by registering your organization or suggesting a group that serves this community.

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AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.

Companies Active in bone marrow failure syndrome

0 approved

Organizations with approved therapies for this disease

No approved therapies yet

Research is ongoing — 1 company has orphan drug designations for this disease

Xoma Corporation

Other

Designated

View all companies active in bone marrow failure syndrome

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bone marrow failure syndrome

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

Related Diseases

Know a Patient Advocacy Group for this condition?

Companies Active in bone marrow failure syndrome

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