Fanconi Anemia Complementation Group D1 C1838457
A severe subtype of Fanconi anemia linked to BRCA2 gene issues. Causes early bone marrow failure and increased risk of solid tumors. Requires lifelong monitoring and may need stem cell transplant.
Key facts at a glance
- ICD-10
- D61.03
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Bone marrow failure
(hematologic)Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skin hyperpigmentation
(integumentary)Microcephaly
(neurologic)Renal malformation
(renal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Hematopoietic Stem Cell Transplantation (HSCT)
Curative approach for bone marrow failure using healthy donor stem cells to replace defective hematopoietic cells. Requires careful HLA matching and conditioning regimen to prevent graft-versus-host disease.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Androgen Therapy
Administration of androgens such as oxymetholone to stimulate bone marrow production and improve blood cell counts. Particularly effective in patients with residual bone marrow function.
Additional treatment options
Surveillance for Malignancies
Regular screening protocols including blood counts, bone marrow examinations, and imaging for early detection of myelodysplastic syndrome or solid tumors common in this population.
monitoringSurgical Correction of Physical Anomalies
Procedures to address radial ray defects, thumb abnormalities, and other skeletal anomalies through reconstructive surgery to improve function and quality of life.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Fanconi Anemia Complementation Group D1 C1838457?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy