Details of Disease

General Information of Disease (ID: DISHYVNK)

• Disease Name: Fanconi anemia complementation group Q
• Synonyms: Fanconi anemia, complementation group Q; Fanconi anaemia complementation group type Q; Fanconi anaemia caused by mutation in ERCC4; ERCC4 Fanconi anaemia; Fanconi anemia caused by mutation in ERCC4; Fanconi Anemia, complementation group type Q; FANCQ; ERCC4 Fanconi anemia; Fanconi anemia complementation group type Q
• Definition: Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.
• Disease Hierarchy:
  DISGW6Q8: Fanconi's anemia
  DISHYVNK: Fanconi anemia complementation group Q
• Disease Identifiers:
  MONDO ID: MONDO_0014108
  UMLS CUI: C3808988
  OMIM ID: 615272
  MedGen ID: 815318

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XRCC4	OT4SXOIZ	Definitive	Autosomal recessive	[1]
ERCC4	OTFIOPG1	Strong	Autosomal recessive	[2]
TRAIP	OTMPT9Y2	Strong	Autosomal recessive	[3]
POC1A	OTXAG4PL	Definitive	Autosomal recessive	[4]

References

• [1] Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.
• [2] Xeroderma pigmentosum complementation group F in a non-Japanese patient. J Am Acad Dermatol. 1988 May;18(5 Pt 2):1185-8. doi: 10.1016/s0190-9622(88)70121-8.
• [3] TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.
• [4] Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol. 2015 Oct;55(2):147-58. doi: 10.1530/JME-15-0090.