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

Fanconi anemia complementation group J

Synonyms
BRIP1-Related Fanconi Anemia

Summary

Excerpted from the GeneReview: Fanconi Anemia
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
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Available tests

88 tests are in the database for this condition.

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Clinical tests (88 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BACH1, FANCJ, OF, BRIP1
    Summary: BRCA1 interacting DNA helicase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

  • FARF, 2008
    Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management (3rd Ed.), 2008 (See 2020 Update)

Clinical resources

Practice guidelines

  • FARF, 2020
    Fanconi Anemia Clinical Care Guidelines, Fifth Edition.

Molecular resources

Consumer resources

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