Fanconi anemia complementation group I
Findings
No curated finding names Fanconi anemia complementation group I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.
Definition from the Mondo Disease Ontology (MONDO:0012186), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 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.
- Absent radiusHPOHP:0003974
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 2 of 2 reported patients
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 7 of 7 reported patients · Childhood onset
- 3 of 3 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 3 of 3 reported patients
- Chromosomal breakage induced by crosslinking agents
Show the remaining 29
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 10 of 10 reported patients
- Small pituitary glandHPOHP:0012506
- 1 of 1 reported patient
- Triangular faceHPOHP:0000325
- 3 of 3 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 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.
- FANCIHGNC:25568
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Fanconi anemia complementation group I
- Also called
- FANCIFanconi anaemia complementation group type IFanconi anemia complementation group type IFanconi Anemia, complementation group type 1