Details of Disease

General Information of Disease (ID: DIS1EFEV)

Disease Name Xeroderma pigmentosum group B
Synonyms
xeroderma pigmentosum, type 2; XPB/CS; xeroderma pigmentosum, complementation group B; xeroderma pigmentosum B/Cockayne syndrome; XP, Group B; XPB; XP group B; xeroderma pigmentosum group type B; ERCC3 xeroderma pigmentosum; xeroderma pigmentosum caused by mutation in ERCC3; xeroderma pigmentosum, complementation group type B; XP-B; xeroderma pigmentosum group B; xeroderma pigmentosum, group B; XPBC
Definition Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.
Disease Hierarchy
DISJ0QRY: Xeroderma pigmentosum-Cockayne syndrome complex
DISQ9H19: Xeroderma pigmentosum
DIS1EFEV: Xeroderma pigmentosum group B
Disease Identifiers
MONDO ID
MONDO_0012531
MESH ID
C562590
UMLS CUI
C0268136
OMIM ID
610651
MedGen ID
78643
SNOMED CT ID
1073003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC3 OTVAW3P1 Definitive Autosomal recessive [1]
GTF2H2 OTK72L9I Definitive Biomarker [2]
GTF2H3 OT87W5QJ Definitive Biomarker [2]
GTF2H4 OTPD1DIU Definitive Biomarker [2]
GTF2H5 OTRL219S Definitive Biomarker [2]
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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 Analysis of the conserved NER helicases (XPB and XPD) and UV-induced DNA damage in Hydra.Biochim Biophys Acta Gen Subj. 2018 Sep;1862(9):2031-2042. doi: 10.1016/j.bbagen.2018.06.017. Epub 2018 Jun 28.