Fanconi anemia complementation group D2
Findings
No curated finding names Fanconi anemia complementation group D2 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 FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
Definition from the Mondo Disease Ontology (MONDO:0009214), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
37 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.
- Bone marrow hypocellularityHPOHP:0005528
- 25 of 28 reported patients
- MicrocephalyHPOHP:0000252
- 25 of 28 reported patients
- Small for gestational ageHPOHP:0001518
- 24 of 29 reported patients · Antenatal onset
- Abnormal skin pigmentationHPOHP:0001000
- 19 of 29 reported patients
- MicrophthalmiaHPOHP:0000568
- 17 of 28 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 29 reported patients
- Short thumbHPO
Show the remaining 25
- Absent radiusHPOHP:0003974
- 3 of 29 reported patients
- Absent thumbHPOHP:0009777
- 3 of 29 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 29 reported patients
- Low-set earsHPOHP:0000369
- 3 of 29 reported patients
- Preaxial hand polydactylyHPOHP:0001177
- 3 of 29 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 29 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.
- FANCD2HGNC:3585
- Definitive · Ambry Genetics · Autosomal recessive · 2016
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Fanconi anemia complementation group D2
- Also called
- FA4FAD2FANCD2