Overview
DDX41-related hematologic malignancy predisposition syndrome is a hereditary condition caused by changes (mutations) in the DDX41 gene. This gene plays an important role in helping cells process genetic material and respond to infections. When DDX41 does not work properly, it increases a person's risk of developing certain blood cancers, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). These are cancers that affect the bone marrow — the spongy tissue inside bones where blood cells are made. Most people with this condition do not show symptoms until adulthood, often in their 50s, 60s, or even later. Because the condition runs in families, relatives of someone diagnosed may also carry the gene change without knowing it. Symptoms are usually related to the blood cancer itself, such as fatigue, frequent infections, easy bruising, or unusual bleeding. Treatment depends on whether and what type of blood cancer develops. Options may include watchful waiting, chemotherapy, targeted therapies, or stem cell transplant. Early identification through genetic testing allows for closer monitoring, which can lead to earlier cancer detection and better outcomes. This condition is also sometimes called DDX41 germline mutation syndrome or familial DDX41-associated MDS/AML.
Key symptoms:
Unusual tiredness or fatigue that does not go awayFrequent or hard-to-treat infectionsEasy bruising or bleedingPale skinShortness of breathLow red blood cell counts (anemia)Low white blood cell countsLow platelet countsUnexplained weight lossNight sweatsSwollen lymph nodes (less common)Bone marrow failure
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventInstitut Claudius Regaud — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for DDX41-related hematologic malignancy predisposition syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for DDX41-related hematologic malignancy predisposition syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to DDX41-related hematologic malignancy predisposition syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How often should I have blood tests and bone marrow checks to monitor for cancer?,Should my children, siblings, or parents be tested for the DDX41 mutation?,What early signs should I watch for that would mean I need to come in sooner?,If I develop MDS or AML, am I a candidate for a stem cell transplant, and should my family members be tested as potential donors?,Are there any clinical trials I should know about for DDX41-related conditions?,How does this diagnosis affect my family members' health insurance or life insurance?,Should I see a genetic counselor, and what can they help me with?
Common questions about DDX41-related hematologic malignancy predisposition syndrome
What is DDX41-related hematologic malignancy predisposition syndrome?
DDX41-related hematologic malignancy predisposition syndrome is a hereditary condition caused by changes (mutations) in the DDX41 gene. This gene plays an important role in helping cells process genetic material and respond to infections. When DDX41 does not work properly, it increases a person's risk of developing certain blood cancers, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). These are cancers that affect the bone marrow — the spongy tissue inside bones where blood cells are made. Most people with this condition do not show symptoms until adulthood, ofte
How is DDX41-related hematologic malignancy predisposition syndrome inherited?
DDX41-related hematologic malignancy predisposition syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does DDX41-related hematologic malignancy predisposition syndrome typically begin?
Typical onset of DDX41-related hematologic malignancy predisposition syndrome is adult. Age of onset can vary across affected individuals.
Are there clinical trials for DDX41-related hematologic malignancy predisposition syndrome?
Yes — 1 recruiting clinical trial is currently listed for DDX41-related hematologic malignancy predisposition syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.