Details of Disease

General Information of Disease (ID: DIS3X0GQ)

Disease Name Cockayne syndrome type 2
Synonyms CSB; Cockayne syndrome, type B; Cockayne syndrome type 2; Cockayne syndrome B; Cockayne syndrome type B; Cockayne syndrome type II
Definition Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
Disease Hierarchy
DISW6GL2: Cockayne syndrome
DIS3X0GQ: Cockayne syndrome type 2
Disease Identifiers
MONDO ID
MONDO_0019570
MESH ID
D003057
UMLS CUI
C0751038
OMIM ID
133540
MedGen ID
155487
Orphanet ID
90322
SNOMED CT ID
890434000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NR1H2 TTXA6PH Limited Biomarker [1]
ATAT1 TTWUHQ1 Strong Altered Expression [2]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC1 OTNPYQHI Supportive Autosomal recessive [3]
ERCC8 OT0T4WKI Supportive Autosomal recessive [4]
CSH1 OT33HTRR Strong Biomarker [5]
CSH2 OTW8JVAN Strong Biomarker [5]
PGBD3 OTV3I2W1 Strong Biomarker [6]
SETDB1 OTWVUA1B Strong Biomarker [7]
SYT9 OT7S8WU0 Strong Altered Expression [8]
ERCC6 OT2QZKSF Definitive Autosomal recessive [9]
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⏷ Show the Full List of 8 DOT(s)

References

1 Decreased transcription-coupled nucleotide excision repair capacity is associated with increased p53- and MLH1-independent apoptosis in response to cisplatin.BMC Cancer. 2010 May 14;10:207. doi: 10.1186/1471-2407-10-207.
2 HDAC inhibition improves autophagic and lysosomal function to prevent loss of subcutaneous fat in a mouse model of Cockayne syndrome.Sci Transl Med. 2018 Aug 29;10(456):eaam7510. doi: 10.1126/scitranslmed.aam7510.
3 Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25.
4 Cockayne Syndrome. 2000 Dec 28 [updated 2019 Aug 29]. 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.
5 Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.Pediatr Neurol. 2015 Sep;53(3):262-5. doi: 10.1016/j.pediatrneurol.2015.06.006. Epub 2015 Jun 14.
6 Tethering of the conserved piggyBac transposase fusion protein CSB-PGBD3 to chromosomal AP-1 proteins regulates expression of nearby genes in humans.PLoS Genet. 2012 Sep;8(9):e1002972. doi: 10.1371/journal.pgen.1002972. Epub 2012 Sep 27.
7 Cockayne syndrome group B deficiency reduces H3K9me3 chromatin remodeler SETDB1 and exacerbates cellular aging.Nucleic Acids Res. 2019 Sep 19;47(16):8548-8562. doi: 10.1093/nar/gkz568.
8 Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. Cell Rep. 2016 Mar 22;14(11):2554-61. doi: 10.1016/j.celrep.2016.02.051. Epub 2016 Mar 10.
9 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.