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GTR Home > Conditions/Phenotypes > Fanconi anemia complementation group Q

Fanconi anemia complementation group Q

Summary

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. [from GeneReviews]

Available tests

46 tests are in the database for this condition.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERCC11, FANCQ, RAD1, XFEPS, XPF, ERCC4
    Summary: ERCC excision repair 4, endonuclease catalytic subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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