Details of Disease

Disease Name

Cockayne syndrome type 1

Cockayne syndrome classical; Cockayne syndrome type A; Cockayne syndrome classic form; CSA; Cockayne syndrome type I; Cockayne syndrome, type A; Cockayne syndrome A; Cockayne syndrome type 1; Cockayne syndrome type a; ERCC8 Cockayne syndrome; Cockayne syndrome caused by mutation in ERCC8

Definition

Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.

Disease Hierarchy

DISW6GL2: Cockayne syndrome

DIS9JFVY: Cockayne syndrome type 1

Disease Identifiers

MONDO ID

MONDO_0019569

MESH ID

D003057

UMLS CUI

C0751039

OMIM ID

216400

MedGen ID

155488

Orphanet ID

90321

SNOMED CT ID

890433006

General Information of Disease (ID: DIS9JFVY)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPA9	TTMTPG3	Strong	Biomarker	[1]
XPA	TTGT87E	Strong	Genetic Variation	[2]
PPID	TTNAFOU	Definitive	Biomarker	[3]
PPIF	TTRFQTB	Definitive	Biomarker	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A38	DTV8SWX	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Genetic Variation	[4]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSH1	OT33HTRR	Limited	Biomarker	[1]
CSH2	OTW8JVAN	Limited	Biomarker	[1]
ERCC4	OTFIOPG1	Strong	GermlineCausalMutation	[5]
ERCC6	OT2QZKSF	Strong	Biomarker	[6]
GTF2H2	OTK72L9I	Strong	Biomarker	[7]
GTF2H3	OT87W5QJ	Strong	Biomarker	[7]
GTF2H5	OTRL219S	Strong	Biomarker	[7]
ERCC8	OT0T4WKI	Definitive	Autosomal recessive	[8]
MS4A2	OTMCAS2D	Definitive	Biomarker	[9]
MYRF	OTKF6AEB	Definitive	Biomarker	[10]
PHF11	OT5F6LUP	Definitive	Biomarker	[9]
POLH	OTN07WXU	Definitive	Biomarker	[2]
POLQ	OTBHK0E6	Definitive	Biomarker	[2]
SUN1	OTIU8V4U	Definitive	Genetic Variation	[11]
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⏷ Show the Full List of 14 DOT(s)

References

1	Reduction of sleep-disordered breathing following effective percutaneous mitral valve repair with the MitraClip system.Sleep Breath. 2019 Sep;23(3):815-824. doi: 10.1007/s11325-018-1764-x. Epub 2018 Dec 6.
2	Contributions of nucleotide excision repair, DNA polymerase eta, and homologous recombination to replication of UV-irradiated herpes simplex virus type 1.J Biol Chem. 2010 Apr 30;285(18):13761-8. doi: 10.1074/jbc.M110.107920. Epub 2010 Mar 9.
3	Blockade of cyclophilin D rescues dexamethasone-induced oxidative stress in gingival tissue.PLoS One. 2017 Mar 8;12(3):e0173270. doi: 10.1371/journal.pone.0173270. eCollection 2017.
4	Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23.
5	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.
6	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.
7	Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth.Cell Cycle. 2014;13(13):2029-37. doi: 10.4161/cc.29018. Epub 2014 Apr 29.
8	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.
9	Effectiveness of a school-based intervention to prevent child sexual abuse-Evaluation of the German IGEL program.Child Abuse Negl. 2018 Dec;86:109-122. doi: 10.1016/j.chiabu.2018.08.023. Epub 2018 Oct 1.
10	Parental reflective functioning as a moderator of child internalizing difficulties in the context of child sexual abuse.Psychiatry Res. 2017 Nov;257:361-366. doi: 10.1016/j.psychres.2017.07.051. Epub 2017 Jul 26.
11	SUN1 Regulates HIV-1 Nuclear Import in a Manner Dependent on the Interaction between the Viral Capsid and Cellular Cyclophilin A.J Virol. 2018 Jun 13;92(13):e00229-18. doi: 10.1128/JVI.00229-18. Print 2018 Jul 1.