MCID: XRD026
MIFTS: 34

Xeroderma Pigmentosum-Cockayne Syndrome Complex

Categories: Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

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:



External Ids:

ICD10 via Orphanet 34 Q82.1 Q87.1
Orphanet 59 ORPHA220295

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

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:



Diseases related to Xeroderma Pigmentosum-Cockayne Syndrome Complex

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

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

Genetic Tests for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Anatomical Context for Xeroderma Pigmentosum-Cockayne Syndrome Complex

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

41
Skin, Eye

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
30988227 2019
2
Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. 38
30317357 2018
3
Xeroderma pigmentosum-Cockayne syndrome complex. 38
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
27396511 2016
5
XPB: An unconventional SF2 DNA helicase. 38
25641424 2015
6
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. 38
24354460 2015
7
An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype. 38
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
23800062 2013
9
Disorders of nucleotide excision repair. 38
23622385 2013
10
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. 38
18329345 2008
11
XPG: its products and biological roles. 38
19181113 2008
12
UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. 38
17208056 2007
13
Cockayne syndrome in adults: review with clinical and pathologic study of a new case. 38
17092472 2006
14
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 38
16947863 2006
15
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 38
12060391 2002
16
Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. 38
11764181 2001
17
Cockayne syndrome and xeroderma pigmentosum. 38
11185579 2000
18
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 38
8818951 1996
19
Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. 38
7963692 1994
20
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. 38
8408834 1993

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

Expression for Xeroderma Pigmentosum-Cockayne Syndrome Complex

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

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
Show member pathways
12.62 ERCC5 ERCC4 ERCC3 ERCC2
2
Show member pathways
12.29 ERCC5 ERCC4 ERCC3 ERCC2
3
Show member pathways
12.06 ERCC5 ERCC4 ERCC3 ERCC2
4 12.02 ERCC4 ERCC3 ERCC2
5 11.52 ERCC3 ERCC2
6
Show member pathways
11.45 ERCC3 ERCC2
7 11.19 ERCC3 ERCC2
8
Show member pathways
10.99 ERCC5 ERCC4 ERCC3 ERCC2
9 10.59 ERCC4 ERCC3 ERCC2

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

Sources for Xeroderma Pigmentosum-Cockayne Syndrome Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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