Overview
Autosomal dominant aplasia and myelodysplasia is a rare inherited blood disorder in which the bone marrow fails to produce blood cells properly. The bone marrow is the spongy tissue inside bones where blood cells are made. In this condition, the bone marrow can become severely underactive (aplasia) or produce abnormal, poorly functioning blood cells (myelodysplasia). Because it follows an autosomal dominant inheritance pattern, only one copy of the altered gene from one parent is enough to cause the disease. People with this condition often develop low blood counts, which can include low red blood cells (anemia), low white blood cells (increasing infection risk), and low platelets (leading to easy bruising and bleeding). Symptoms may include persistent fatigue, frequent or severe infections, unexplained bruising, pale skin, and shortness of breath. Some individuals may progress to more serious blood cancers such as acute myeloid leukemia (AML). Treatment depends on the severity of the disease. Supportive care includes blood transfusions and antibiotics for infections. Growth factors may be used to stimulate blood cell production. In more severe cases, a bone marrow (stem cell) transplant may be considered, which is currently the only potentially curative option. Regular monitoring with blood tests and bone marrow biopsies is essential to track disease progression and watch for transformation to leukemia.
Also known as:
Key symptoms:
Persistent tiredness and fatiguePale skinFrequent or severe infectionsEasy bruisingUnusual or prolonged bleedingShortness of breathWeaknessRecurrent feversSmall red or purple spots on the skin (petechiae)Bone painEnlarged spleenUnexplained weight lossDizziness or lightheadedness
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
4 eventsNational Cancer Institute (NCI) — PHASE1
Assistance Publique - Hôpitaux de Paris — NA
National Institute of Allergy and Infectious Diseases (NIAID)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant aplasia and myelodysplasia.
4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Autosomal dominant aplasia and myelodysplasia.
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 Autosomal dominant aplasia and myelodysplasia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my bone marrow failure, and what does my bone marrow biopsy show?,What is my risk of developing leukemia, and how will you monitor for this?,Should I or my family members undergo genetic testing?,Am I a candidate for a bone marrow transplant, and when should we consider it?,What symptoms should prompt me to seek emergency care?,Are there clinical trials or new treatments I should know about?,How often will I need blood tests and bone marrow biopsies?
Common questions about Autosomal dominant aplasia and myelodysplasia
What is Autosomal dominant aplasia and myelodysplasia?
Autosomal dominant aplasia and myelodysplasia is a rare inherited blood disorder in which the bone marrow fails to produce blood cells properly. The bone marrow is the spongy tissue inside bones where blood cells are made. In this condition, the bone marrow can become severely underactive (aplasia) or produce abnormal, poorly functioning blood cells (myelodysplasia). Because it follows an autosomal dominant inheritance pattern, only one copy of the altered gene from one parent is enough to cause the disease. People with this condition often develop low blood counts, which can include low red
How is Autosomal dominant aplasia and myelodysplasia inherited?
Autosomal dominant aplasia and myelodysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant aplasia and myelodysplasia?
Yes — 4 recruiting clinical trials are currently listed for Autosomal dominant aplasia and myelodysplasia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.