Details of Disease

General Information of Disease (ID: DIS0WTZ6)

Disease Name Fanconi anemia complementation group N
Synonyms
Fanconi anemia, complementation group N; FANCN; Fanconi Anemia, complementation group type N; PALB2 Fanconi anemia; Fanconi anemia complementation group type N; Fanconi anaemia complementation group type N; Fanconi anaemia caused by mutation in PALB2; Fanconi anemia complementation group N; Fanconi anemia caused by mutation in PALB2; PALB2 Fanconi anaemia
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DIS0WTZ6: Fanconi anemia complementation group N
Disease Identifiers
MONDO ID
MONDO_0012565
UMLS CUI
C1835817
OMIM ID
610832
MedGen ID
372133

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FANCA TTV5HJS Limited Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PALB2 OT6DNDBG Definitive Autosomal recessive [2]
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References

1 Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma.Int J Oncol. 2011 Aug;39(2):505-14. doi: 10.3892/ijo.2011.1039. Epub 2011 May 11.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.