Fanconi anemia complementation group F
Findings
No curated finding names Fanconi anemia complementation group F 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 FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.
Definition from the Mondo Disease Ontology (MONDO:0011325), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
34 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
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 3 of 3 reported patients
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Hyperpigmentation of the skinHPO
Show the remaining 22
- MicrophthalmiaHPOHP:0000568
- 2 of 3 reported patients
- Pelvic kidneyHPOHP:0000125
- 2 of 3 reported patients
- Vesicoureteral refluxHPOHP:0000076
- 2 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
- 2-3 finger cutaneous syndactylyHPOHP:0001233
- 1 of 3 reported patients
- Absent thumbHPOHP:0009777
- 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.
- FANCFHGNC:3587
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Fanconi anemia complementation group F
- Also called
- FANCFFanconi anaemia complementation group type FFanconi anemia complementation group type FFanconi Anemia, complementation group type F