MCID: XRD026
MIFTS: 35

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 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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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 3. An important gene associated with Xeroderma Pigmentosum-Cockayne Syndrome Complex is BIVM-ERCC5 (BIVM-ERCC5 Readthrough), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include eye, and related phenotypes are intellectual disability and spasticity

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 38)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group d 30.8 ERCC5 ERCC4 ERCC3 ERCC2
2 cerebrooculofacioskeletal syndrome 3 30.1 ERCC5 BIVM-ERCC5
3 cerebrooculofacioskeletal syndrome 1 29.9 ERCC5 ERCC2
4 cockayne syndrome 29.4 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
5 xeroderma pigmentosum, variant type 29.4 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
6 xeroderma pigmentosum, complementation group b 29.3 ERCC5 ERCC4 ERCC3 ERCC2
7 cerebro-oculo-facio-skeletal syndrome 29.0 ERCC5 ERCC4 ERCC3 ERCC2
8 trichothiodystrophy 29.0 ERCC5 ERCC4 ERCC3 ERCC2
9 xeroderma pigmentosum, complementation group g 28.8 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
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 microphthalmia 10.3
16 microcephaly 10.3
17 hydrocephalus 10.3
18 nephrotic syndrome 10.3
19 focal segmental glomerulosclerosis 10.3
20 myopathy 10.3
21 kidney disease 10.3
22 peripheral nervous system disease 10.3
23 cataract 10.3
24 pellagra 10.3
25 neuropathy 10.3
26 cerebral atrophy 10.3
27 spasticity 10.3
28 xfe progeroid syndrome 9.7 ERCC5 ERCC4 ERCC3
29 trichothiodystrophy 3, photosensitive 9.7 ERCC3 ERCC2
30 cockayne syndrome a 9.7 ERCC5 ERCC4 ERCC3
31 robinow syndrome, autosomal recessive 1 9.7 ERCC4 ERCC3
32 trichothiodystrophy 1, photosensitive 9.6 ERCC3 ERCC2
33 acoustic neuroma 9.5 ERCC5 ERCC4 ERCC2
34 female breast cancer 9.4 ERCC5 ERCC4 ERCC2
35 breast disease 9.4 ERCC5 ERCC4 ERCC2
36 xeroderma pigmentosum, complementation group f 9.3 ERCC5 ERCC4 ERCC3 ERCC2
37 xeroderma pigmentosum group e 9.3 ERCC5 ERCC4 ERCC3 ERCC2
38 uv-sensitive syndrome 9.2 ERCC5 ERCC4 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:

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 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
9 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
10 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
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 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
14 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0007495
15 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
16 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
17 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
18 poikiloderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001029
19 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
20 arteriosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002634
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 squamous cell carcinoma of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0006739
27 basal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0002671
28 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 ERCC4 ERCC5
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 ERCC4 ERCC5
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 ERCC2 ERCC3 ERCC4 ERCC5

Drugs & Therapeutics for Xeroderma Pigmentosum-Cockayne Syndrome Complex

Search Clinical Trials , 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:

40
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]. 61
30988227 2019
2
Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. 61
30317357 2018
3
Xeroderma pigmentosum-Cockayne syndrome complex. 61
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
27396511 2016
5
XPB: An unconventional SF2 DNA helicase. 61
25641424 2015
6
Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. 61
24354460 2015
7
An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype. 61
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
23800062 2013
9
Disorders of nucleotide excision repair. 61
23622385 2013
10
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. 61
18329345 2008
11
XPG: its products and biological roles. 61
19181113 2008
12
UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. 61
17208056 2007
13
Cockayne syndrome in adults: review with clinical and pathologic study of a new case. 61
17092472 2006
14
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 61
16947863 2006
15
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 61
12060391 2002
16
Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. 61
11764181 2001
17
Cockayne syndrome and xeroderma pigmentosum. 61
11185579 2000
18
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 61
8818951 1996
19
Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer. 61
7963692 1994
20
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. 61
8408834 1993

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 BIVM-ERCC5 NM_000123.3(ERCC5):c.348_352del (p.Arg116fs) Deletion Pathogenic 522981 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
Show member pathways
11.45 ERCC3 ERCC2
6
Show member pathways
11.09 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
7 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 transcription factor TFIID complex GO:0005669 9.26 ERCC3 ERCC2
2 transcription factor TFIIH holo complex GO:0005675 9.16 ERCC3 ERCC2
3 transcription factor TFIIH core complex GO:0000439 8.96 ERCC3 ERCC2
4 nucleotide-excision repair complex GO:0000109 8.62 ERCC5 ERCC4

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.88 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
2 DNA repair GO:0006281 9.85 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
3 transcription-coupled nucleotide-excision repair GO:0006283 9.73 ERCC5 ERCC4 ERCC3 ERCC2
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.71 ERCC5 ERCC4 BIVM-ERCC5
5 response to UV GO:0009411 9.71 ERCC5 ERCC4 ERCC3 ERCC2
6 nucleotide-excision repair, preincision complex assembly GO:0006294 9.69 ERCC5 ERCC3 ERCC2
7 global genome nucleotide-excision repair GO:0070911 9.67 ERCC4 ERCC3 ERCC2
8 nucleotide-excision repair, DNA incision GO:0033683 9.67 ERCC5 ERCC4 ERCC3 ERCC2
9 response to oxidative stress GO:0006979 9.62 ERCC3 ERCC2
10 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.62 ERCC5 ERCC4 ERCC3 ERCC2
11 DNA duplex unwinding GO:0032508 9.61 ERCC3 ERCC2
12 regulation of mitotic cell cycle phase transition GO:1901990 9.61 ERCC3 ERCC2
13 transcription elongation from RNA polymerase II promoter GO:0006368 9.6 ERCC3 ERCC2
14 embryonic organ development GO:0048568 9.59 ERCC3 ERCC2
15 transcription initiation from RNA polymerase I promoter GO:0006361 9.58 ERCC3 ERCC2
16 7-methylguanosine mRNA capping GO:0006370 9.58 ERCC3 ERCC2
17 termination of RNA polymerase I transcription GO:0006363 9.57 ERCC3 ERCC2
18 transcription elongation from RNA polymerase I promoter GO:0006362 9.56 ERCC3 ERCC2
19 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.56 ERCC5 ERCC4 ERCC3 ERCC2
20 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.55 ERCC3 ERCC2
21 hair cell differentiation GO:0035315 9.52 ERCC3 ERCC2
22 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.46 ERCC5 ERCC4 ERCC3 ERCC2
23 UV protection GO:0009650 9.26 ERCC5 ERCC4 ERCC3 ERCC2
24 nucleotide-excision repair GO:0006289 9.02 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5

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 9.85 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
2 hydrolase activity GO:0016787 9.72 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
3 protein C-terminus binding GO:0008022 9.61 ERCC4 ERCC3 ERCC2
4 nuclease activity GO:0004518 9.54 ERCC5 ERCC4 BIVM-ERCC5
5 helicase activity GO:0004386 9.52 ERCC3 ERCC2
6 DNA helicase activity GO:0003678 9.51 ERCC3 ERCC2
7 promoter-specific chromatin binding GO:1990841 9.49 ERCC4 ERCC3
8 hydrolase activity, acting on ester bonds GO:0016788 9.48 ERCC5 BIVM-ERCC5
9 single-stranded DNA binding GO:0003697 9.43 ERCC5 ERCC4 BIVM-ERCC5
10 endodeoxyribonuclease activity GO:0004520 9.4 ERCC5 ERCC4
11 endonuclease activity GO:0004519 9.33 ERCC5 ERCC4 BIVM-ERCC5
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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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