Fanconi anemia
Findings
No curated finding names Fanconi anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Definition from the Mondo Disease Ontology (MONDO:0019391), read 2026-09-29. CC BY 4.0.
Features
106 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.
- Abnormal skin pigmentationHPOHP:0001000
- Very frequent (80% to 99% of cases)
- Abnormal thumb morphologyHPOHP:0001172
- Very frequent (80% to 99% of cases)
- Abnormality of blood and blood-forming tissuesHPOHP:0001871
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome stabilityHPOHP:0003220
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- Decreased total leukocyte countHPOHP:0001882
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- Pyridoxine-responsive sideroblastic anemiaHPOHP:0005522
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 94
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Abnormal renal morphologyHPOHP:0012210
- Frequent (30% to 79% of cases)
- Abnormality of the urinary systemHPOHP:0000079
- Frequent (30% to 79% of cases)
- Almond-shaped palpebral fissureHPOHP:0007874
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Genes
22 genes
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.
- BRIP1HGNC:20473
- Definitive · Illumina · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- FANCMHGNC:23168
- Strong · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Refuted Evidence · ClinGen · Autosomal recessive · 2024
- BRCA1HGNC:1100
- Supportive · Orphanet · Autosomal recessive · 2021
- BRCA2HGNC:1101
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (22)
- Fanconi anemia complementation group A
- Fanconi anemia complementation group B
- Fanconi anemia complementation group C
- Fanconi anemia complementation group D1
- Fanconi anemia complementation group D2
- Fanconi anemia complementation group E
- Fanconi anemia complementation group F
- Fanconi anemia complementation group G
- Fanconi anemia complementation group I
- Fanconi anemia complementation group J
- Fanconi anemia complementation group L
- Fanconi anemia complementation group N
- Fanconi anemia complementation group O
- Fanconi anemia complementation group P
Other names
5 names
Resolves to: Fanconi anemia
- Also called
- Fanconi pancytopeniaFanconi's anemiapancytopenia, congenitalPanmyelopathy, Fanconiprimary erythroid hypoplasia