Details of Disease

General Information of Disease (ID: DIS9Q3CA)

Disease Name Xeroderma pigmentosum group E
Synonyms
XPe; xeroderma pigmentosum, type 5; xeroderma pigmentosum 5; XP, Group E; xeroderma pigmentosum, complementation group E; XP group E; xeroderma pigmentosum group type E; xeroderma pigmentosum, complementation group type E; XPE; xeroderma pigmentosum, group E, DDB-negative subtype; XP-E; xeroderma pigmentosum V; xeroderma pigmentosum group E; XP5
Definition
An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.
Disease Hierarchy
DISQ9H19: Xeroderma pigmentosum
DIS9Q3CA: Xeroderma pigmentosum group E
Disease Identifiers
MONDO ID
MONDO_0010213
MESH ID
C564732
UMLS CUI
C1848411
OMIM ID
278740
MedGen ID
341219
SNOMED CT ID
56048001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DDB1 OTTR2L3Z Limited Biomarker [1]
DDB2 OTO8HVVB Definitive Autosomal recessive [2]
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References

1 The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites.Proc Natl Acad Sci U S A. 2006 Feb 21;103(8):2588-93. doi: 10.1073/pnas.0511160103. Epub 2006 Feb 10.
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.