Fanconi anemia complementation group V
Findings
No curated finding names Fanconi anemia complementation group V 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 MAD2L2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014985), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Short statureHPO
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.
- MAD2L2HGNC:6764
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
9 names
Resolves to: Fanconi anemia complementation group V
- Also called
- Fanconi anaemia caused by mutation in MAD2L2Fanconi anaemia complementation group type VFanconi anemia caused by mutation in MAD2L2Fanconi anemia complementation group type VFanconi Anemia, complementation group type VFanconi Anemia, complementation group VFANCVMAD2L2 Fanconi anaemiaMAD2L2 Fanconi anemia