Living with Fanconi anemia complementation group D1
A rare type of Fanconi anemia caused by changes in both copies of the BRCA2 gene, with childhood cancers and other body differences.
Understanding Fanconi anemia complementation group D1
It can cause bone marrow failure over time and differences in the heart, brain, intestines, or bones. Bone marrow problems and birth differences are less common than in other types of Fanconi anemia. The risk of childhood cancers is high, including Wilms tumor, brain tumors, and leukemia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Café-au-lait spots
- Slow weight gain (failure to thrive)
- Slow growth before birth
- Leukemia (acute myeloid leukemia)
- Bone marrow failure
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in BRCA2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Fanconi Cancer Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Fanconi Cancer Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Fanconi Cancer Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in both copies of the BRCA2 gene cause it. It is autosomal recessive, which means a child inherits a changed copy from each parent.
Also known as: brca2-related fanconi anemia; fad1; fancd1; inherited cancer-predisposing syndrome due to biallelic brca2 mutations
Patient organizations
- Fanconi Cancer FoundationFanconi anemia complementation group D1 · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fanconi anemia complementation group D1.
Explore research for Fanconi anemia complementation group D1
Explore actively recruiting Fanconi anemia complementation group D1 studies with HealthSpark.
Find actively recruiting studies for Fanconi anemia complementation group D1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Fanconi anemia complementation group D1 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Fanconi anemia complementation group D1
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Fanconi anemia complementation group D1 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.