Fanconi anemia complementation group O
Findings
No curated finding names Fanconi anemia complementation group O yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.
Definition from the Mondo Disease Ontology (MONDO:0013248), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death · Miscarriage
HPO, annotations 2026-09-02
Features
15 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.
- Anal atresiaHPOHP:0002023
- 2 of 2 reported patients
- Chromosome breakageHPOHP:0040012
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients
- Rectal atresiaHPOHP:0025023
- 1 of 2 reported patients
- Absent thumbHPOHP:0009777
Show the remaining 3
- Short thumbHPOHP:0009778
- 1 of 3 reported patients
- Small thenar eminenceHPOHP:0001245
- 1 of 3 reported patients
- Abnormal heart morphologyHPOHP:0001627
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.
- RAD51CHGNC:9820
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
8 names
Resolves to: Fanconi anemia complementation group O
- Also called
- FANCOFanconi anaemia caused by mutation in RAD51CFanconi anaemia complementation group type OFanconi anemia caused by mutation in RAD51CFanconi anemia complementation group type OFanconi Anemia, complementation group type ORAD51C Fanconi anaemiaRAD51C Fanconi anemia