Fanconi anemia complementation group C
Findings
No curated finding names Fanconi anemia complementation group C 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 FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
Definition from the Mondo Disease Ontology (MONDO:0009213), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 features
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.
- AnemiaHPOHP:0001903
- 3 of 3 reported patients
- Anterior wedging of T12HPOHP:0011940
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 2 of 2 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 3 of 3 reported patients
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 4 of 4 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 11 of 11 reported patients
- EpicanthusHPO
Show the remaining 9
- ThrombocytopeniaHPOHP:0001873
- 11 of 11 reported patients
- Triangular faceHPOHP:0000325
- 1 of 1 reported patient
- Ventricular septal defectHPOHP:0001629
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 3 of 4 reported patients
- Absent thumbHPOHP:0009777
- 2 of 4 reported patients
- Absent radiusHPOHP:0003974
- 1 of 3 reported patients
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.
- FANCCHGNC:3584
- 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 · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Fanconi anemia complementation group C
- Also called
- FA3FACCFANCCFanconi anaemia complementation group type CFanconi anemia complementation group type CFanconi Anemia, complementation group type C