Details of Disease

General Information of Disease (ID: DISWACKN)

• Disease Name: Fanconi anemia complementation group J
• Synonyms: Fanconi anemia, complementation group J; FANCJ; Fanconi anemia complementation group type J; Fanconi Anemia, complementation group type J; Fanconi anemia complementation group J; Fanconi anaemia complementation group type J
• Definition: Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
• Disease Hierarchy:
  DISGW6Q8: Fanconi's anemia
  DISWACKN: Fanconi anemia complementation group J
• Disease Identifiers:
  MONDO ID: MONDO_0012187
  UMLS CUI: C1836860
  OMIM ID: 609054
  MedGen ID: 323015

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRIP1	TTZV7LJ	Definitive	Autosomal recessive	[1]
BRIP1	TTZV7LJ	Definitive	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPA1	OT76POLP	Limited	Genetic Variation	[3]
BRIP1	OT38QBD4	Definitive	Autosomal recessive	[1]

References

• [1] 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.
• [2] BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.Breast Cancer Res. 2018 Jan 24;20(1):7. doi: 10.1186/s13058-018-0935-9.
• [3] FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein.Blood. 2007 Oct 1;110(7):2390-8. doi: 10.1182/blood-2006-11-057273. Epub 2007 Jun 27.