Overview
Bleeding disorder due to CalDAG-GEFI deficiency is a very rare inherited blood clotting condition caused by changes (mutations) in the RASGRP2 gene. This gene provides instructions for making a protein called CalDAG-GEFI, which plays a key role in helping platelets — the tiny blood cells that form clots — stick together and seal wounds. When this protein is missing or does not work properly, platelets cannot activate and clump together the way they should, leading to prolonged or excessive bleeding. People with this condition typically experience easy bruising, frequent nosebleeds, heavy menstrual periods, and bleeding that is hard to stop after cuts, dental work, or surgery. The condition is sometimes grouped with a broader category of platelet function disorders called 'platelet activation defects.' Symptoms usually appear early in life, often in infancy or childhood, when unusual bleeding is first noticed. There is currently no cure for this condition. Treatment focuses on managing and preventing bleeding episodes. Options include platelet transfusions, desmopressin (DDAVP), antifibrinolytic medicines like tranexamic acid, and recombinant activated factor VIIa in serious cases. With careful management and planning around procedures, many people with this condition can live relatively normal lives, though ongoing medical supervision is important.
Also known as:
Key symptoms:
Easy and frequent bruisingNosebleeds that are hard to stopHeavy or prolonged menstrual bleedingBleeding that does not stop quickly after cuts or injuriesExcessive bleeding after dental procedures or tooth extractionsProlonged bleeding after surgeryBleeding into joints or muscles in some casesBleeding from the gumsBlood in urine or stool in some casesSlow wound healing due to poor clot formation
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Bleeding disorder due to CalDAG-GEFI deficiency.
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Specialists
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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
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Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What platelet function tests and genetic tests do I need to confirm this diagnosis?,What medications or treatments should I have on hand in case of a bleeding emergency?,Are there activities or sports I should avoid to reduce my risk of serious bleeding?,How should I prepare for dental work, surgery, or other medical procedures?,Are there any clinical trials or new treatments I should know about?,What should I tell my school, employer, or emergency contacts about my condition?,If I want to have children, what are the risks and how should I plan for pregnancy and delivery?
Common questions about Bleeding disorder due to CalDAG-GEFI deficiency
What is Bleeding disorder due to CalDAG-GEFI deficiency?
Bleeding disorder due to CalDAG-GEFI deficiency is a very rare inherited blood clotting condition caused by changes (mutations) in the RASGRP2 gene. This gene provides instructions for making a protein called CalDAG-GEFI, which plays a key role in helping platelets — the tiny blood cells that form clots — stick together and seal wounds. When this protein is missing or does not work properly, platelets cannot activate and clump together the way they should, leading to prolonged or excessive bleeding. People with this condition typically experience easy bruising, frequent nosebleeds, heavy mens
How is Bleeding disorder due to CalDAG-GEFI deficiency inherited?
Bleeding disorder due to CalDAG-GEFI deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Bleeding disorder due to CalDAG-GEFI deficiency typically begin?
Typical onset of Bleeding disorder due to CalDAG-GEFI deficiency is infantile. Age of onset can vary across affected individuals.