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Fanconi anemia complementation group D2

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

171

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Genes

External Links

  • OMIM

    227646

  • Orphanet
  • HPO
  • Medgen

    C3160738

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