Details of Disease

General Information of Disease (ID: DISRKRYY)

Disease Name Xeroderma pigmentosum group F
Synonyms
xeroderma pigmentosum, type 6; xeroderma pigmentosum 6; xeroderma pigmentosum, complementation group F; xeroderma pigmentosum, type F/Cockayne syndrome; xeroderma pigmentosum group F; ERCC4 xeroderma pigmentosum; xeroderma pigmentosum group type F; XPF; xeroderma pigmentosum, complementation group type F; xeroderma pigmentosum VI; XP-F; xeroderma pigmentosum caused by mutation in ERCC4; xeroderma pigmentosum, group F; XP, group F; XP6; XP group F
Definition Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.
Disease Hierarchy
DISJ0QRY: Xeroderma pigmentosum-Cockayne syndrome complex
DISQ9H19: Xeroderma pigmentosum
DISRKRYY: Xeroderma pigmentosum group F
Disease Identifiers
MONDO ID
MONDO_0010215
MESH ID
C562592
UMLS CUI
C0268140
OMIM ID
278760
MedGen ID
120612
SNOMED CT ID
42530008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC1 OTNPYQHI Strong Biomarker [1]
MUS81 OTVZ4E60 Strong Biomarker [2]
RAD1 OT886MA8 Strong Biomarker [3]
ERCC4 OTFIOPG1 Definitive Autosomal recessive [4]
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References

1 The age-related expression decline of ERCC1 and XPF for forensic age estimation: A preliminary study.J Forensic Leg Med. 2017 Jul;49:15-19. doi: 10.1016/j.jflm.2017.05.005. Epub 2017 May 3.
2 MUS81 is associated with cell proliferation and cisplatin sensitivity in serous ovarian cancer.Biochem Biophys Res Commun. 2016 Aug 5;476(4):493-500. doi: 10.1016/j.bbrc.2016.05.152. Epub 2016 May 30.
3 Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.Cell. 1996 Sep 6;86(5):811-22. doi: 10.1016/s0092-8674(00)80155-5.
4 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.