Details of Disease

General Information of Disease (ID: DISJ0QRY)

Disease Name Xeroderma pigmentosum-Cockayne syndrome complex
Synonyms XP/CS complex
Definition
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYJQB2: Hereditary photodermatosis
DISJ0QRY: Xeroderma pigmentosum-Cockayne syndrome complex
Disease Identifiers
MONDO ID
MONDO_0016354
UMLS CUI
C4304411
MedGen ID
930080
Orphanet ID
220295
SNOMED CT ID
719819004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC2 OT1C8HQ4 Supportive Autosomal recessive [1]
ERCC3 OTVAW3P1 Supportive Autosomal recessive [1]
ERCC4 OTFIOPG1 Supportive Autosomal recessive [1]
ERCC5 OTQAKFJM Supportive Autosomal recessive [1]
GTF2H2 OTK72L9I Strong Genetic Variation [2]
GTF2H3 OT87W5QJ Strong Genetic Variation [2]
GTF2H5 OTRL219S Strong Genetic Variation [2]
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⏷ Show the Full List of 7 DOT(s)

References

1 Xeroderma Pigmentosum. 2003 Jun 20 [updated 2022 Mar 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 Suppression of UV-induced apoptosis by the human DNA repair protein XPG.Cell Death Differ. 2006 Mar;13(3):478-88. doi: 10.1038/sj.cdd.4401764.