Xeroderma Pigmentosum-Cockayne Syndrome Complex disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: XRD026 MIFTS: 36	Xeroderma Pigmentosum-Cockayne Syndrome Complex Categories: Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Xeroderma Pigmentosum-Cockayne Syndrome Complex

MalaCards integrated aliases for Xeroderma Pigmentosum-Cockayne Syndrome Complex:

Name: Xeroderma Pigmentosum-Cockayne Syndrome Complex ⁵⁸

Xeroderma Pigmentosum and Cockayne Syndrome Complex ⁶

Xp/cs Complex ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

xeroderma pigmentosum-cockayne syndrome complex
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Xeroderma pigmentosum

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q82.1 Q87.1

Orphanet ⁵⁸ ORPHA220295

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Summaries for Xeroderma Pigmentosum-Cockayne Syndrome Complex

MalaCards based summary : Xeroderma Pigmentosum-Cockayne Syndrome Complex, also known as xeroderma pigmentosum and cockayne syndrome complex, is related to xeroderma pigmentosum, complementation group d and cerebrooculofacioskeletal syndrome 1. An important gene associated with Xeroderma Pigmentosum-Cockayne Syndrome Complex is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, eye and breast, and related phenotypes are intellectual disability and spasticity

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Related Diseases for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Diseases related to Xeroderma Pigmentosum-Cockayne Syndrome Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)

#	Related Disease	Score	Top Affiliating Genes
1	xeroderma pigmentosum, complementation group d	30.6	ERCC5 ERCC4 ERCC3 ERCC2
2	cerebrooculofacioskeletal syndrome 1	29.8	ERCC5 ERCC2
3	cockayne syndrome	29.4	ERCC5 ERCC4 ERCC3 ERCC2
4	xeroderma pigmentosum, variant type	29.2	ERCC5 ERCC4 ERCC3 ERCC2
5	microcephaly	29.0	ERCC5 ERCC4 ERCC2
6	xeroderma pigmentosum, complementation group g	28.7	ERCC5 ERCC4 ERCC3 ERCC2
7	xeroderma pigmentosum, complementation group b	28.7	ERCC5 ERCC4 ERCC3 ERCC2
8	cerebro-oculo-facio-skeletal syndrome	28.5	ERCC5 ERCC4 ERCC3 ERCC2
9	trichothiodystrophy 1, photosensitive	28.4	ERCC5 ERCC4 ERCC3 ERCC2
10	cleft palate, isolated	10.3
11	rothmund-thomson syndrome, type 2	10.3
12	ataxia and polyneuropathy, adult-onset	10.3
13	cerebrooculofacioskeletal syndrome 2	10.3
14	cerebrooculofacioskeletal syndrome 4	10.3
15	cerebrooculofacioskeletal syndrome 3	10.3
16	microphthalmia	10.3
17	hydrocephalus	10.3
18	nephrotic syndrome	10.3
19	focal segmental glomerulosclerosis	10.3
20	myopathy	10.3
21	peripheral nervous system disease	10.3
22	cataract	10.3
23	pellagra	10.3
24	neuropathy	10.3
25	cerebral atrophy	10.3
26	spasticity	10.3
27	xeroderma pigmentosum, complementation group a	9.5	ERCC4 ERCC2
28	xfe progeroid syndrome	9.4	ERCC5 ERCC4 ERCC3
29	acoustic neuroma	9.2	ERCC5 ERCC4 ERCC2
30	female breast cancer	9.2	ERCC5 ERCC4 ERCC2
31	autosomal recessive disease	9.2	ERCC3 ERCC2
32	breast disease	9.1	ERCC5 ERCC4 ERCC2
33	cockayne syndrome a	8.8	ERCC5 ERCC4 ERCC3 ERCC2
34	xeroderma pigmentosum, complementation group f	8.8	ERCC5 ERCC4 ERCC3 ERCC2
35	xeroderma pigmentosum group e	8.8	ERCC5 ERCC4 ERCC3 ERCC2
36	uv-sensitive syndrome	8.8	ERCC5 ERCC4 ERCC3 ERCC2

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum-Cockayne Syndrome Complex:

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Symptoms & Phenotypes for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Human phenotypes related to Xeroderma Pigmentosum-Cockayne Syndrome Complex:

⁵⁸ ³¹ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	spasticity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001257
3	nystagmus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000639
4	ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001251
5	hydrocephalus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000238
6	hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000365
7	abnormality of amino acid metabolism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004337
8	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
9	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
10	optic atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000648
11	retinopathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000488
12	dry skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000958
13	skin rash ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000988
14	cutaneous photosensitivity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000992
15	urticaria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001025
16	cachexia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004326
17	prematurely aged appearance ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007495
18	arteriosclerosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002634
19	poikiloderma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001029
20	dermal atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004334
21	numerous pigmented freckles ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007587
22	diplopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000651
23	dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001260
24	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
25	melanoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002861
26	confusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001289
27	basal cell carcinoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002671
28	squamous cell carcinoma of the skin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006739
29	demyelinating peripheral neuropathy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007108

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum-Cockayne Syndrome Complex according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	8.92	ERCC2 ERCC3 ERCC4 ERCC5

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Drugs & Therapeutics for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy	Recruiting	NCT00001813

Search NIH Clinical Center for Xeroderma Pigmentosum-Cockayne Syndrome Complex

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Genetic Tests for Xeroderma Pigmentosum-Cockayne Syndrome Complex

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Anatomical Context for Xeroderma Pigmentosum-Cockayne Syndrome Complex

MalaCards organs/tissues related to Xeroderma Pigmentosum-Cockayne Syndrome Complex:

⁴⁰

Skin, Eye, Breast

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Publications for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Articles related to Xeroderma Pigmentosum-Cockayne Syndrome Complex:

(show all 20)

#	Title	Authors	PMID	Year
1	[Cockayne Syndrome]. ⁶¹	Moriwaki S	30988227	2019
2	Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. ⁶¹	Metlo A...Jamali M	30317357	2018
3	Xeroderma pigmentosum-Cockayne syndrome complex. ⁶¹	Natale V...Raquer H	28376890	2017
4	Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome. ⁶¹	Kondo D...Takahashi T	27396511	2016
5	XPB: An unconventional SF2 DNA helicase. ⁶¹	Fan L...DuPrez KT	25641424	2015
6	Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. ⁶¹	Hijazi H...Alkuraya FS	24354460	2015
7	An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype. ⁶¹	Lehmann J...Emmert S	24702031	2014
8	Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes. ⁶¹	Schafer A...Emmert S	23800062	2013
9	Disorders of nucleotide excision repair. ⁶¹	Rapin I	23622385	2013
10	Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. ⁶¹	Kleijer WJ...Lehmann AR	18329345	2008
11	XPG: its products and biological roles. ⁶¹	Scharer OD	19181113	2008
12	UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. ⁶¹	Clement V...Clarkson SG	17208056	2007
13	Cockayne syndrome in adults: review with clinical and pathologic study of a new case. ⁶¹	Rapin I...Dickson DW	17092472	2006
14	Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. ⁶¹	Oh KS...Kraemer KH	16947863	2006
15	Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ⁶¹	Emmert S...Kraemer KH	12060391	2002
16	Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. ⁶¹	Lindenbaum Y...Rapin I	11764181	2001
17	Cockayne syndrome and xeroderma pigmentosum. ⁶¹	Rapin I...Robbins JH	11185579	2000
18	Xeroderma pigmentosum--Cockayne syndrome complex: a further case. ⁶¹	Hamel BC...Kleijer WJ	8818951	1996
19	Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. ⁶¹	Kraemer KH...Seidman MM	7963692	1994
20	Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. ⁶¹	Scott RJ...Muller H	8408834	1993

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Genes for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Genes related to Xeroderma Pigmentosum-Cockayne Syndrome Complex (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	757.5	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
2	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	357.5	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)
3	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	350	Causative germline mutation ⁵⁸
4	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Xeroderma Pigmentosum-Cockayne Syndrome Complex

ClinVar genetic disease variations for Xeroderma Pigmentosum-Cockayne Syndrome Complex:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ERCC5	NM_000123.3(ERCC5):c.348_352del (p.Arg116fs)	deletion	Pathogenic	522981	rs1242579404	13:103506187-103506191	13:102853837-102853841

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Expression for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Search GEO for disease gene expression data for Xeroderma Pigmentosum-Cockayne Syndrome Complex.

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Pathways for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Pathways related to Xeroderma Pigmentosum-Cockayne Syndrome Complex according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	12.62	ERCC5 ERCC4 ERCC3 ERCC2
2	Transcription-Coupled Nucleotide Excision Repair (TC-NER) ⁶⁵ Show member pathways DNA Damage Recognition in GG-NER ⁶⁵ Dual incision in TC-NER ⁶⁵ Formation of Incision Complex in GG-NER ⁶⁵ Formation of TC-NER Pre-Incision Complex ⁶⁵ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁵ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁵ Nucleotide Excision Repair ⁶⁵	12.29	ERCC5 ERCC4 ERCC3 ERCC2
3	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.06	ERCC5 ERCC4 ERCC3 ERCC2
4	DNA Damage ⁴	12.02	ERCC4 ERCC3 ERCC2
5	RNA Polymerase I Promoter Escape ⁶⁵ Show member pathways RNA Polymerase I Transcription Initiation ⁶⁵ RNA Polymerase I Transcription Termination ⁶⁵	11.45	ERCC3 ERCC2
6	Transcription_P53 signaling pathway ²²	11.17	ERCC3 ERCC2
7	Nucleotide excision repair ³⁶ Show member pathways Dual Incision in GG-NER ⁶⁵ Nucleotide Excision Repair Pathway ⁶³	10.99	ERCC5 ERCC4 ERCC3 ERCC2
8	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.59	ERCC4 ERCC3 ERCC2

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GO Terms for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Cellular components related to Xeroderma Pigmentosum-Cockayne Syndrome Complex according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor TFIIH holo complex	GO:0005675	9.26	ERCC3 ERCC2
2	transcription factor TFIIH core complex	GO:0000439	9.16	ERCC3 ERCC2
3	nucleotide-excision repair complex	GO:0000109	8.96	ERCC5 ERCC4
4	transcription factor TFIID complex	GO:0005669	8.8	ERCC4 ERCC3 ERCC2

Biological processes related to Xeroderma Pigmentosum-Cockayne Syndrome Complex according to GeneCards Suite gene sharing:

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to DNA damage stimulus	GO:0006974	9.81	ERCC5 ERCC4 ERCC3 ERCC2
2	DNA repair	GO:0006281	9.8	ERCC5 ERCC4 ERCC3 ERCC2
3	transcription-coupled nucleotide-excision repair	GO:0006283	9.73	ERCC5 ERCC4 ERCC3 ERCC2
4	response to UV	GO:0009411	9.71	ERCC5 ERCC4 ERCC3 ERCC2
5	nucleotide-excision repair	GO:0006289	9.67	ERCC5 ERCC4 ERCC3 ERCC2
6	nucleotide-excision repair, preincision complex assembly	GO:0006294	9.65	ERCC5 ERCC3 ERCC2
7	transcription initiation from RNA polymerase II promoter	GO:0006367	9.63	ERCC3 ERCC2
8	global genome nucleotide-excision repair	GO:0070911	9.63	ERCC4 ERCC3 ERCC2
9	response to hypoxia	GO:0001666	9.62	ERCC3 ERCC2
10	response to oxidative stress	GO:0006979	9.62	ERCC3 ERCC2
11	nucleotide-excision repair, DNA incision	GO:0033683	9.62	ERCC5 ERCC4 ERCC3 ERCC2
12	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.61	ERCC5 ERCC4
13	regulation of mitotic cell cycle phase transition	GO:1901990	9.61	ERCC3 ERCC2
14	DNA duplex unwinding	GO:0032508	9.6	ERCC3 ERCC2
15	transcription elongation from RNA polymerase II promoter	GO:0006368	9.59	ERCC3 ERCC2
16	embryonic organ development	GO:0048568	9.58	ERCC3 ERCC2
17	transcription initiation from RNA polymerase I promoter	GO:0006361	9.58	ERCC3 ERCC2
18	7-methylguanosine mRNA capping	GO:0006370	9.57	ERCC3 ERCC2
19	termination of RNA polymerase I transcription	GO:0006363	9.56	ERCC3 ERCC2
20	nucleotide-excision repair, DNA incision, 5'-to lesion	GO:0006296	9.56	ERCC5 ERCC4 ERCC3 ERCC2
21	transcription elongation from RNA polymerase I promoter	GO:0006362	9.55	ERCC3 ERCC2
22	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.54	ERCC3 ERCC2
23	hair cell differentiation	GO:0035315	9.52	ERCC3 ERCC2
24	nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	9.46	ERCC5 ERCC4 ERCC3 ERCC2
25	nucleotide-excision repair, preincision complex stabilization	GO:0006293	9.26	ERCC5 ERCC4 ERCC3 ERCC2
26	UV protection	GO:0009650	8.92	ERCC5 ERCC4 ERCC3 ERCC2

Molecular functions related to Xeroderma Pigmentosum-Cockayne Syndrome Complex according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.76	ERCC5 ERCC4 ERCC3 ERCC2
2	hydrolase activity	GO:0016787	9.67	ERCC5 ERCC4 ERCC3 ERCC2
3	helicase activity	GO:0004386	9.52	ERCC3 ERCC2
4	nuclease activity	GO:0004518	9.51	ERCC5 ERCC4
5	single-stranded DNA binding	GO:0003697	9.49	ERCC5 ERCC4
6	endonuclease activity	GO:0004519	9.48	ERCC5 ERCC4
7	DNA helicase activity	GO:0003678	9.43	ERCC3 ERCC2
8	protein C-terminus binding	GO:0008022	9.43	ERCC4 ERCC3 ERCC2
9	DNA-dependent ATPase activity	GO:0008094	9.4	ERCC3 ERCC2
10	RNA polymerase II CTD heptapeptide repeat kinase activity	GO:0008353	9.32	ERCC3 ERCC2
11	endodeoxyribonuclease activity	GO:0004520	9.16	ERCC5 ERCC4
12	damaged DNA binding	GO:0003684	9.13	ERCC4 ERCC3 ERCC2
13	protein N-terminus binding	GO:0047485	8.92	ERCC5 ERCC4 ERCC3 ERCC2

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