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

MCID: XRD026 MIFTS: 34	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 ⁵⁹

Xeroderma Pigmentosum and Cockayne Syndrome Complex ⁶

Xp/cs Complex ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ³⁴

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: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³⁴ Q82.1 Q87.1

Orphanet ⁵⁹ 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 and eye, and related phenotypes are hydrocephalus and nystagmus

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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 33)

#	Related Disease	Score	Top Affiliating Genes
1	xeroderma pigmentosum, complementation group d	31.3	ERCC3 ERCC2
2	cerebrooculofacioskeletal syndrome 1	29.8	ERCC5 ERCC2
3	xeroderma pigmentosum, complementation group g	29.6	ERCC5 ERCC4 ERCC3
4	cockayne syndrome	29.1	ERCC5 ERCC4 ERCC3 ERCC2
5	xeroderma pigmentosum, variant type	29.1	ERCC5 ERCC4 ERCC3 ERCC2
6	xeroderma pigmentosum, complementation group b	29.1	ERCC5 ERCC3 ERCC2
7	trichothiodystrophy 1, photosensitive	28.8	ERCC5 ERCC3 ERCC2
8	cerebro-oculo-facio-skeletal syndrome	28.3	ERCC5 ERCC4 ERCC3 ERCC2
9	cleft palate, isolated	10.3
10	rothmund-thomson syndrome	10.3
11	ataxia and polyneuropathy, adult-onset	10.3
12	cerebrooculofacioskeletal syndrome 2	10.3
13	cerebrooculofacioskeletal syndrome 4	10.3
14	cerebrooculofacioskeletal syndrome 3	10.3
15	microphthalmia	10.3
16	hydrocephalus	10.3
17	nephrotic syndrome	10.3
18	focal segmental glomerulosclerosis	10.3
19	myopathy	10.3
20	peripheral nervous system disease	10.3
21	cataract	10.3
22	pellagra	10.3
23	neuropathy	10.3
24	microcephaly	10.3
25	congenital hydrocephalus	10.3
26	cerebral atrophy	10.3
27	spasticity	10.3
28	acoustic neuroma	9.8	ERCC5 ERCC4
29	fanconi anemia, complementation group a	9.5	ERCC4 ERCC2
30	cockayne syndrome a	9.2	ERCC5 ERCC4 ERCC2
31	xeroderma pigmentosum, complementation group f	9.2	ERCC5 ERCC4 ERCC2
32	autosomal recessive disease	9.1	ERCC3 ERCC2
33	uv-sensitive syndrome	9.0	ERCC5 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:

⁵⁹ ³² (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hydrocephalus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000238
2	nystagmus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000639
3	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
4	ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001251
5	spasticity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001257
6	hearing impairment ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000365
7	abnormality of amino acid metabolism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004337
8	microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000252
9	optic atrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000648
10	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
11	retinopathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000488
12	dry skin ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000958
13	skin rash ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000988
14	cutaneous photosensitivity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000992
15	urticaria ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001025
16	cachexia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004326
17	prematurely aged appearance ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007495
18	poikiloderma ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001029
19	dermal atrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004334
20	arteriosclerosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002634
21	numerous pigmented freckles ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007587
22	diplopia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000651
23	dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001260
24	global developmental delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001263
25	melanoma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002861
26	confusion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001289
27	basal cell carcinoma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002671
28	squamous cell carcinoma of the skin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006739
29	demyelinating peripheral neuropathy ⁵⁹ ³²	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:

⁴¹

Skin, Eye

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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]. ³⁸	Moriwaki S	30988227	2019
2	Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. ³⁸	Metlo A...Jamali M	30317357	2018
3	Xeroderma pigmentosum-Cockayne syndrome complex. ³⁸	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. ³⁸	Kondo D...Takahashi T	27396511	2016
5	XPB: An unconventional SF2 DNA helicase. ³⁸	Fan L...DuPrez KT	25641424	2015
6	Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. ³⁸	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. ³⁸	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. ³⁸	Schafer A...Emmert S	23800062	2013
9	Disorders of nucleotide excision repair. ³⁸	Rapin I	23622385	2013
10	Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. ³⁸	Kleijer WJ...Lehmann AR	18329345	2008
11	XPG: its products and biological roles. ³⁸	Scharer OD	19181113	2008
12	UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. ³⁸	Clement V...Clarkson SG	17208056	2007
13	Cockayne syndrome in adults: review with clinical and pathologic study of a new case. ³⁸	Rapin I...Dickson DW	17092472	2006
14	Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. ³⁸	Oh KS...Kraemer KH	16947863	2006
15	Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ³⁸	Emmert S...Kraemer KH	12060391	2002
16	Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. ³⁸	Lindenbaum Y...Rapin I	11764181	2001
17	Cockayne syndrome and xeroderma pigmentosum. ³⁸	Rapin I...Robbins JH	11185579	2000
18	Xeroderma pigmentosum--Cockayne syndrome complex: a further case. ³⁸	Hamel BC...Kleijer WJ	8818951	1996
19	Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. ³⁸	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. ³⁸	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	767.53	Pathogenic ⁶ Causative germline mutation ⁵⁹ GeneCards inferred via : Publications (show sections)
2	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	367.53	Causative germline mutation ⁵⁹ GeneCards inferred via : Publications (show sections)
3	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	350	Causative germline mutation ⁵⁹
4	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Xeroderma Pigmentosum-Cockayne Syndrome Complex

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	ERCC5	NM_000123.3(ERCC5): c.348_352del (p.Arg116fs)	deletion	Pathogenic	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 ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.62	ERCC5 ERCC4 ERCC3 ERCC2
2	Transcription-Coupled Nucleotide Excision Repair (TC-NER) ⁶⁶ Show member pathways DNA Damage Recognition in GG-NER ⁶⁶ Dual incision in TC-NER ⁶⁶ Formation of Incision Complex in GG-NER ⁶⁶ Formation of TC-NER Pre-Incision Complex ⁶⁶ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁶ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁶ Nucleotide Excision Repair ⁶⁶	12.29	ERCC5 ERCC4 ERCC3 ERCC2
3	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.06	ERCC5 ERCC4 ERCC3 ERCC2
4	DNA Damage ⁴	12.02	ERCC4 ERCC3 ERCC2
5	SMAD Signaling Network ⁶⁴	11.52	ERCC3 ERCC2
6	RNA Polymerase I Promoter Escape ⁶⁶ Show member pathways RNA Polymerase I Transcription Initiation ⁶⁶ RNA Polymerase I Transcription Termination ⁶⁶	11.45	ERCC3 ERCC2
7	Transcription_P53 signaling pathway ²²	11.19	ERCC3 ERCC2
8	Nucleotide excision repair ³⁷ Show member pathways Dual Incision in GG-NER ⁶⁶ Nucleotide Excision Repair Pathway ⁶⁴	10.99	ERCC5 ERCC4 ERCC3 ERCC2
9	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	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	nucleoplasm	GO:0005654	9.62	ERCC5 ERCC4 ERCC3 ERCC2
2	transcription factor TFIIH holo complex	GO:0005675	9.26	ERCC3 ERCC2
3	transcription factor TFIIH core complex	GO:0000439	9.16	ERCC3 ERCC2
4	nucleotide-excision repair complex	GO:0000109	8.96	ERCC5 ERCC4
5	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 25)

#	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	9.71	ERCC5 ERCC4 ERCC3 ERCC2
4	response to UV	GO:0009411	9.67	ERCC5 ERCC4 ERCC3 ERCC2
5	nucleotide-excision repair, preincision complex assembly	GO:0006294	9.63	ERCC5 ERCC3 ERCC2
6	response to hypoxia	GO:0001666	9.62	ERCC3 ERCC2
7	transcription initiation from RNA polymerase II promoter	GO:0006367	9.62	ERCC3 ERCC2
8	nucleotide-excision repair	GO:0006289	9.62	ERCC5 ERCC4 ERCC3 ERCC2
9	response to oxidative stress	GO:0006979	9.61	ERCC3 ERCC2
10	transcription elongation from RNA polymerase II promoter	GO:0006368	9.61	ERCC3 ERCC2
11	global genome nucleotide-excision repair	GO:0070911	9.61	ERCC4 ERCC3 ERCC2
12	DNA duplex unwinding	GO:0032508	9.6	ERCC3 ERCC2
13	embryonic organ development	GO:0048568	9.59	ERCC3 ERCC2
14	7-methylguanosine mRNA capping	GO:0006370	9.58	ERCC3 ERCC2
15	transcription initiation from RNA polymerase I promoter	GO:0006361	9.58	ERCC3 ERCC2
16	termination of RNA polymerase I transcription	GO:0006363	9.57	ERCC3 ERCC2
17	regulation of mitotic cell cycle phase transition	GO:1901990	9.56	ERCC3 ERCC2
18	nucleotide-excision repair, DNA incision	GO:0033683	9.56	ERCC5 ERCC4 ERCC3 ERCC2
19	hair cell differentiation	GO:0035315	9.55	ERCC3 ERCC2
20	nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	9.52	ERCC5 ERCC4
21	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.48	ERCC3 ERCC2
22	nucleotide-excision repair, DNA incision, 5'-to lesion	GO:0006296	9.46	ERCC5 ERCC4 ERCC3 ERCC2
23	nucleotide-excision repair, preincision complex stabilization	GO:0006293	9.26	ERCC5 ERCC4 ERCC3 ERCC2
24	regulation of mitotic recombination	GO:0000019	9.24	ERCC2
25	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	9.73	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-dependent ATPase activity	GO:0008094	9.4	ERCC3 ERCC2
8	ATP-dependent DNA helicase activity	GO:0004003	9.37	ERCC3 ERCC2
9	protein C-terminus binding	GO:0008022	9.33	ERCC4 ERCC3 ERCC2
10	endodeoxyribonuclease activity	GO:0004520	9.32	ERCC5 ERCC4
11	RNA polymerase II CTD heptapeptide repeat kinase activity	GO:0008353	9.26	ERCC3 ERCC2
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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