Fanconi anemia complementation group D1
- Synonyms
- BRCA2-Related Fanconi Anemia
Summary
Excerpted from the GeneReview:Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Parinda A Mehta
- Christen Ebens
- view full author information
Available tests
135 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (135 available)
Cytogenetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Chromosomal breakage induced by crosslinking agents
Chromosomal breakage induced by crosslinking agents
- MedGen UID: 867372
- Concept ID: C4021737
- Finding: Finding
Abnormal cellular phenotype
- Chromosomal breakage induced by crosslinking agents
- Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
Bone marrow hypocellularity
- MedGen UID: 383749
- Concept ID: C1855710
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
- Abnormality of limbs
- Short thumb
Short thumb
- MedGen UID: 98469
- Concept ID: C0431890
- Finding: Congenital Abnormality
Abnormality of limbs
- Short thumb
- Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Imperforate anus
- Abnormality of the integument
- Cafe-au-lait spot
Cafe-au-lait spot
- MedGen UID: 113157
- Concept ID: C0221263
- Finding: Finding
Abnormality of the integument
- Cafe-au-lait spot
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
- Neoplasm
- Acute myeloid leukemia
Acute myeloid leukemia
- MedGen UID: 9730
- Concept ID: C0023467
- Finding: Neoplastic Process
Neoplasm
- T-cell acute lymphoblastic leukemia
T-cell acute lymphoblastic leukemia
- MedGen UID: 368378
- Concept ID: C1961099
- Finding: Neoplastic Process
Neoplasm
- Acute myeloid leukemia
- FARF, 2008Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management (3rd Ed.), 2008 (See 2020 Update)
- Link text is missing.Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.
- FARF, 2020Fanconi Anemia Clinical Care Guidelines, Fifth Edition.
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