Fanconi anemia complementation group A
Findings
No curated finding names Fanconi anemia complementation group A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
Definition from the Mondo Disease Ontology (MONDO:0009215), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Male infertilityHPOHP:0003251
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FANCAHGNC:3582
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: Fanconi anemia complementation group A
- Also called
- FANCAFANCA Fanconi anaemiaFANCA Fanconi anemiaFanconi anaemia caused by mutation in FANCAFanconi anaemia complementation group type AFanconi anemia caused by mutation in FANCAFanconi anemia complementation group type AFanconi Anemia, complementation group type a