CSA
MCID: CCK008
MIFTS: 51

Cockayne Syndrome a (CSA)

Categories: Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cockayne Syndrome a

MalaCards integrated aliases for Cockayne Syndrome a:

Name: Cockayne Syndrome a 58 76
Cockayne Syndrome, Type a 58 13 41
Csa 58 76
Ckn1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic overlap with xeroderma pigmentosum (see, e.g., )
genetic heterogeneity (see, e.g., cockayne syndrome type b, )


HPO:

33
cockayne syndrome a:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Cockayne Syndrome a

OMIM : 58 Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992). Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. (216400)

MalaCards based summary : Cockayne Syndrome a, also known as cockayne syndrome, type a, is related to cockayne syndrome type ii and cockayne syndrome type iii. An important gene associated with Cockayne Syndrome a is ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, bone and b cells, and related phenotypes are nystagmus and hypertension

UniProtKB/Swiss-Prot : 76 Cockayne syndrome A: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

Related Diseases for Cockayne Syndrome a

Diseases in the Cockayne Syndrome family:

Cockayne Syndrome B Cockayne Syndrome a
Cockayne Syndrome Type I Cockayne Syndrome Type Ii
Cockayne Syndrome Type Iii

Diseases related to Cockayne Syndrome a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type ii 31.5 ERCC6 ERCC8
2 cockayne syndrome type iii 31.5 ERCC6 ERCC8
3 cockayne syndrome type i 31.2 ERCC4 ERCC6 ERCC8
4 xeroderma pigmentosum, complementation group f 30.8 ERCC2 ERCC4 ERCC5
5 xeroderma pigmentosum, complementation group b 30.6 ERCC2 ERCC3 ERCC5
6 xeroderma pigmentosum, complementation group g 29.2 ERCC3 ERCC4 ERCC5
7 cockayne syndrome 28.9 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
8 uv-sensitive syndrome 28.4 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
9 xeroderma pigmentosum, variant type 28.0 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
10 central sleep apnea 11.6
11 sleep apnea 11.3
12 uv-sensitive syndrome 2 11.0
13 spondylocarpotarsal synostosis syndrome 10.2
14 macrophagic myofasciitis 10.2
15 aplastic anemia 10.1
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
17 leukemia 10.1
18 gingival overgrowth 10.1
19 autoimmune disease 10.0
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
21 lymphoid leukemia 10.0
22 rere-related disorders 10.0
23 distal trisomy 3p 10.0
24 xeroderma pigmentosum, complementation group c 9.9
25 aging 9.9
26 ischemia 9.9
27 peripheral nervous system disease 9.9
28 neuropathy 9.9
29 growth hormone deficiency 9.9
30 radin blood group antigen 9.8
31 carpal tunnel syndrome 9.8
32 systemic lupus erythematosus 9.8
33 pelger-huet anomaly 9.8
34 myeloma, multiple 9.8
35 pulmonary alveolar microlithiasis 9.8
36 anxiety 9.8
37 autoimmune disease 1 9.8
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
39 mononeuropathy of the median nerve, mild 9.8
40 graft-versus-host disease 9.8
41 membranous nephropathy 9.8
42 angina pectoris 9.8
43 chronic inflammatory demyelinating polyneuropathy 9.8
44 glomerulonephritis 9.8
45 hepatitis 9.8
46 malignant glioma 9.8
47 neutropenia 9.8
48 severe congenital neutropenia 9.8
49 renal fibrosis 9.8
50 mucositis 9.8

Graphical network of the top 20 diseases related to Cockayne Syndrome a:



Diseases related to Cockayne Syndrome a

Symptoms & Phenotypes for Cockayne Syndrome a

Human phenotypes related to Cockayne Syndrome a:

33 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 hypertension 33 HP:0000822
3 intellectual disability 33 HP:0001249
4 seizures 33 HP:0001250
5 ataxia 33 HP:0001251
6 dysarthria 33 HP:0001260
7 gait disturbance 33 HP:0001288
8 muscle weakness 33 HP:0001324
9 tremor 33 HP:0001337
10 kyphosis 33 HP:0002808
11 mandibular prognathia 33 HP:0000303
12 cataract 33 HP:0000518
13 dental malocclusion 33 HP:0000689
14 splenomegaly 33 HP:0001744
15 hepatomegaly 33 HP:0002240
16 carious teeth 33 HP:0000670
17 thickened calvaria 33 HP:0002684
18 microcephaly 33 HP:0000252
19 sensorineural hearing impairment 33 HP:0000407
20 optic atrophy 33 HP:0000648
21 abnormality of visual evoked potentials 33 HP:0000649
22 renal insufficiency 33 HP:0000083
23 proteinuria 33 HP:0000093
24 arrhythmia 33 HP:0011675
25 opacification of the corneal stroma 33 HP:0007759
26 strabismus 33 HP:0000486
27 limitation of joint mobility 33 HP:0001376
28 decreased nerve conduction velocity 33 HP:0000762
29 cryptorchidism 33 HP:0000028
30 dry skin 33 HP:0000958
31 intrauterine growth retardation 33 HP:0001511
32 atypical scarring of skin 33 HP:0000987
33 abnormality of the pinna 33 HP:0000377
34 hypogonadism 33 HP:0000135
35 decreased lacrimation 33 HP:0000633
36 hypoplastic iliac wing 33 HP:0002866
37 dementia 33 HP:0000726
38 retinal pigment epithelial mottling 33 HP:0007814
39 hypoplastic pelvis 33 HP:0008839
40 cutaneous photosensitivity 33 HP:0000992
41 abnormality of skin pigmentation 33 HP:0001000
42 sparse hair 33 HP:0008070
43 micropenis 33 HP:0000054
44 severe postnatal growth retardation 33 HP:0008850
45 anhidrosis 33 HP:0000970
46 delayed eruption of primary teeth 33 HP:0000680
47 polyneuropathy 33 HP:0001271
48 cerebral atrophy 33 HP:0002059
49 pigmentary retinopathy 33 HP:0000580
50 menstrual irregularities 33 HP:0000858

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
corneal opacity
optic atrophy
strabismus
decreased lacrimation
more
Neurologic Central Nervous System:
seizures
dementia
cerebral atrophy
normal pressure hydrocephalus
mental retardation
more
Skeletal Spine:
kyphosis
vertebral body abnormalities

Abdomen Liver:
hepatomegaly

Genitourinary Kidneys:
proteinuria
renal failure

Skin Nails Hair Skin:
dry skin
anhidrosis
scarring
photosensitivity
pigmentation
more
Endocrine Features:
hypogonadism
irregular menstrual cycles

Head And Neck Teeth:
malocclusion
delayed eruption of deciduous teeth
dental caries
absent/hypoplastic teeth

Head And Neck Nose:
slender nose

Skeletal Skull:
thickened calvarium

Skeletal Limbs:
mild to moderate joint limitation

Skin Nails Hair:
precociously senile appearance

Skin Nails Hair Hair:
thin, dry hair

Cardiovascular Vascular:
hypertension

Neurologic Peripheral Nervous System:
ataxia
gait disturbance
tremor
peripheral neuropathy
weakness
more
Abdomen Spleen:
splenomegaly

Head And Neck Head:
microcephaly
mandible prognathism

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Growth Other:
intrauterine growth retardation
cachectic dwarfism
severe postnatal growth deficiency

Head And Neck Face:
loss of facial adipose tissue
wizened face

Head And Neck Ears:
sensorineural hearing loss
malformed ears

Cardiovascular Heart:
cardiac arrhythmias

Skeletal Pelvis:
small, squared off pelvis
hypoplastic iliac wings

Skeletal Hands:
sclerotic ivory phalangeal epiphyses

Muscle Soft Tissue:
decreased subcutaneous adipose tissue

Laboratory Abnormalities:
abnormal myelination in sural nerve biopsies
disturbed visual and brainstem auditory evoked responses indicative of cns demyelination
increased cellular sensitivity to uv light
thymic hormone decreased
at least 2 complementation groups

Clinical features from OMIM:

216400

GenomeRNAi Phenotypes related to Cockayne Syndrome a according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 ERCC4 ERCC5 ERCC6 ERCC8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 ERCC4 ERCC5 ERCC6 ERCC8
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8

MGI Mouse Phenotypes related to Cockayne Syndrome a:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
2 cellular MP:0005384 9.77 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8
3 integument MP:0010771 9.65 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
4 mortality/aging MP:0010768 9.63 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
5 neoplasm MP:0002006 9.26 ERCC2 ERCC3 ERCC6 ERCC8
6 vision/eye MP:0005391 8.8 ERCC2 ERCC6 ERCC8

Drugs & Therapeutics for Cockayne Syndrome a

Search Clinical Trials , NIH Clinical Center for Cockayne Syndrome a

Genetic Tests for Cockayne Syndrome a

Anatomical Context for Cockayne Syndrome a

MalaCards organs/tissues related to Cockayne Syndrome a:

42
Skin, Bone, B Cells

Publications for Cockayne Syndrome a

Articles related to Cockayne Syndrome a:

(show all 27)
# Title Authors Year
1
Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence. ( 30009828 )
2018
2
Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A. ( 28273366 )
2017
3
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 29262528 )
2017
4
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. ( 29057985 )
2017
5
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. ( 27303919 )
2016
6
Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study. ( 27643390 )
2016
7
Metronidazole Toxicity in Cockayne Syndrome: A Case Series. ( 26304821 )
2015
8
Arabidopsis cockayne syndrome A-like proteins 1A and 1B form a complex with CULLIN4 and damage DNA binding protein 1A and regulate the response to UV irradiation. ( 20622147 )
2010
9
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. ( 19309286 )
2009
10
Association between common genetic variation in Cockayne syndrome A and B genes and nucleotide excision repair capacity among smokers. ( 18708399 )
2008
11
Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase. ( 17512460 )
2007
12
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. ( 17276014 )
2007
13
Cockayne syndrome type A: novel mutations in eight typical patients. ( 16865293 )
2006
14
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. ( 15744458 )
2005
15
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. ( 14661080 )
2004
16
Myocardial ischemia and delayed recovery after anesthesia in a patient with Cockayne syndrome: a case report. ( 11732042 )
2001
17
Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene. ( 8830695 )
1996
18
Cockayne syndrome--a primary defect in DNA repair, transcription, both or neither? ( 8831289 )
1996
19
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. ( 8068222 )
1994
20
Cockayne syndrome: a case report. ( 7810287 )
1994
21
Demyelinating peripheral neuropathy in Cockayne syndrome: a histopathologic and morphometric study. ( 1320347 )
1992
22
Cockayne syndrome--a case report, and a review of the premature aging syndromes in paediatrics. ( 1784111 )
1991
23
Rare syndromes. I. Cockayne syndrome: a review of the 129 cases so far reported in the literature. ( 3334173 )
1987
24
Cockayne syndrome (a case report). ( 3612583 )
1987
25
Host cell reactivation of ultraviolet light irradiated adenovirus 5 in fibroblasts from patients with Cockayne syndrome: a study with six Japanese cases. ( 6481688 )
1984
26
Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid. ( 6687286 )
1983
27
Cockayne syndrome: a cellular sensitivity to ultraviolet light. ( 887325 )
1977

Variations for Cockayne Syndrome a

UniProtKB/Swiss-Prot genetic disease variations for Cockayne Syndrome a:

76
# Symbol AA change Variation ID SNP ID
1 ERCC8 p.Ala160Val VAR_025380 rs121434325
2 ERCC8 p.Ala205Pro VAR_025381 rs121434326
3 ERCC8 p.Ala160Thr VAR_063507 rs281875222
4 ERCC8 p.Trp194Cys VAR_063508 rs281875223
5 ERCC8 p.Leu202Ser VAR_063509 rs281875224
6 ERCC8 p.Asp266Gly VAR_063510 rs281875225

ClinVar genetic disease variations for Cockayne Syndrome a:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC8 NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs) deletion Pathogenic rs786205176 GRCh37 Chromosome 5, 60224723: 60224723
2 ERCC8 NM_000082.3(ERCC8): c.141delC (p.Asn47Lysfs) deletion Pathogenic rs786205176 GRCh38 Chromosome 5, 60928896: 60928896
3 ERCC8 NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter) single nucleotide variant Pathogenic rs121434323 GRCh38 Chromosome 5, 60890964: 60890964
4 ERCC8 ERCC8, 279-BP DEL, 81-BP DEL deletion Pathogenic
5 ERCC8 NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter) single nucleotide variant Pathogenic rs121434323 GRCh37 Chromosome 5, 60186791: 60186791
6 ERCC8 NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter) single nucleotide variant Pathogenic rs121434324 GRCh37 Chromosome 5, 60240799: 60240799
7 ERCC8 NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter) single nucleotide variant Pathogenic rs121434324 GRCh38 Chromosome 5, 60944972: 60944972
8 ERCC8 NM_000082.3(ERCC8): c.479C> T (p.Ala160Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121434325 GRCh37 Chromosome 5, 60200621: 60200621
9 ERCC8 NM_000082.3(ERCC8): c.479C> T (p.Ala160Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121434325 GRCh38 Chromosome 5, 60904794: 60904794
10 ERCC8 NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro) single nucleotide variant Uncertain significance rs121434326 GRCh37 Chromosome 5, 60198273: 60198273
11 ERCC8 NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro) single nucleotide variant Uncertain significance rs121434326 GRCh38 Chromosome 5, 60902446: 60902446
12 ERCC8 NM_000082.3(ERCC8): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs281875222 GRCh37 Chromosome 5, 60200622: 60200622
13 ERCC8 NM_000082.3(ERCC8): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs281875222 GRCh38 Chromosome 5, 60904795: 60904795
14 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.18T> G (p.Asp6Glu) single nucleotide variant Uncertain significance rs886060726 GRCh38 Chromosome 5, 60945273: 60945273
15 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.18T> G (p.Asp6Glu) single nucleotide variant Uncertain significance rs886060726 GRCh37 Chromosome 5, 60241100: 60241100
16 ERCC8 NM_000082.3(ERCC8): c.300C> G (p.Tyr100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs143367518 GRCh37 Chromosome 5, 60214191: 60214191
17 ERCC8 NM_000082.3(ERCC8): c.300C> G (p.Tyr100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs143367518 GRCh38 Chromosome 5, 60918364: 60918364
18 ERCC8 NM_000082.3(ERCC8): c.173+1119G> C single nucleotide variant Pathogenic rs1043679457 GRCh37 Chromosome 5, 60223572: 60223572
19 ERCC8 NM_000082.3(ERCC8): c.173+1119G> C single nucleotide variant Pathogenic rs1043679457 GRCh38 Chromosome 5, 60927745: 60927745
20 ERCC8 NM_000082.3(ERCC8): c.647_651dupTGAGA (p.Arg218Terfs) duplication Pathogenic/Likely pathogenic rs1554073177 GRCh38 Chromosome 5, 60899694: 60899698
21 ERCC8 NM_000082.3(ERCC8): c.647_651dupTGAGA (p.Arg218Terfs) duplication Pathogenic/Likely pathogenic rs1554073177 GRCh37 Chromosome 5, 60195521: 60195525
22 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 GRCh38 Chromosome 5, 60945369: 60945369
23 ERCC8; NDUFAF2 NM_174889.4(NDUFAF2): c.114C> G (p.Tyr38Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs199754807 GRCh37 Chromosome 5, 60241196: 60241196
24 ERCC8 NM_000082.3(ERCC8): c.173+1158A> G single nucleotide variant Benign rs4647068 GRCh37 Chromosome 5, 60223533: 60223533
25 ERCC8 NM_000082.3(ERCC8): c.173+1158A> G single nucleotide variant Benign rs4647068 GRCh38 Chromosome 5, 60927706: 60927706
26 ERCC8 NM_000082.3(ERCC8): c.1122+1G> A single nucleotide variant Likely pathogenic rs1482664387 GRCh37 Chromosome 5, 60183266: 60183266
27 ERCC8 NM_000082.3(ERCC8): c.1122+1G> A single nucleotide variant Likely pathogenic rs1482664387 GRCh38 Chromosome 5, 60887439: 60887439
28 ERCC8 NM_000082.3(ERCC8): c.843+1G> T single nucleotide variant Likely pathogenic rs1305258765 GRCh37 Chromosome 5, 60194102: 60194102
29 ERCC8 NM_000082.3(ERCC8): c.843+1G> T single nucleotide variant Likely pathogenic rs1305258765 GRCh38 Chromosome 5, 60898275: 60898275
30 ERCC8 NM_000082.3(ERCC8): c.719-2A> T single nucleotide variant Likely pathogenic rs1554073117 GRCh37 Chromosome 5, 60194229: 60194229
31 ERCC8 NM_000082.3(ERCC8): c.719-2A> T single nucleotide variant Likely pathogenic rs1554073117 GRCh38 Chromosome 5, 60898402: 60898402
32 ERCC8 NM_000082.3(ERCC8): c.679delG (p.Asp227Ilefs) deletion Likely pathogenic rs1554073175 GRCh37 Chromosome 5, 60195492: 60195493
33 ERCC8 NM_000082.3(ERCC8): c.679delG (p.Asp227Ilefs) deletion Likely pathogenic rs1554073175 GRCh38 Chromosome 5, 60899666: 60899666
34 ERCC8 NM_000082.3(ERCC8): c.618-1G> A single nucleotide variant Pathogenic rs201464610 GRCh37 Chromosome 5, 60195555: 60195555
35 ERCC8 NM_000082.3(ERCC8): c.618-1G> A single nucleotide variant Pathogenic rs201464610 GRCh38 Chromosome 5, 60899728: 60899728
36 ERCC8 NM_000082.3(ERCC8): c.600dup (p.Ile201Tyrfs) duplication Likely pathogenic rs1468231556 GRCh37 Chromosome 5, 60198285: 60198285
37 ERCC8 NM_000082.3(ERCC8): c.600dup (p.Ile201Tyrfs) duplication Likely pathogenic rs1468231556 GRCh38 Chromosome 5, 60902459: 60902459
38 ERCC8 NM_000082.3(ERCC8): c.562_564delGAA (p.Glu188del) deletion Uncertain significance rs1404307838 GRCh37 Chromosome 5, 60198321: 60198324
39 ERCC8 NM_000082.3(ERCC8): c.562_564delGAA (p.Glu188del) deletion Uncertain significance rs1404307838 GRCh38 Chromosome 5, 60902495: 60902497
40 ERCC8 NM_000082.3(ERCC8): c.313_314delGT (p.Val105Thrfs) deletion Pathogenic rs1404477615 GRCh37 Chromosome 5, 60214176: 60214178
41 ERCC8 NM_000082.3(ERCC8): c.313_314delGT (p.Val105Thrfs) deletion Pathogenic rs1404477615 GRCh38 Chromosome 5, 60918350: 60918351
42 ERCC8 NM_000082.3(ERCC8): c.-356G> A single nucleotide variant Uncertain significance rs1554076325 GRCh37 Chromosome 5, 60241191: 60241191
43 ERCC8 NM_000082.3(ERCC8): c.-356G> A single nucleotide variant Uncertain significance rs1554076325 GRCh38 Chromosome 5, 60945364: 60945364
44 ERCC8 NM_000082.3(ERCC8): c.1006delA (p.Thr336Leufs) deletion Uncertain significance rs1554072703 GRCh37 Chromosome 5, 60186750: 60186751
45 ERCC8 NM_000082.3(ERCC8): c.1006delA (p.Thr336Leufs) deletion Uncertain significance rs1554072703 GRCh38 Chromosome 5, 60890924: 60890924
46 ERCC8 NM_000082.3(ERCC8): c.399+1G> A single nucleotide variant Likely pathogenic rs774047625 GRCh37 Chromosome 5, 60214091: 60214091
47 ERCC8 NM_000082.3(ERCC8): c.399+1G> A single nucleotide variant Likely pathogenic rs774047625 GRCh38 Chromosome 5, 60918264: 60918264
48 ERCC8 NM_000082.3(ERCC8): c.77+2T> G single nucleotide variant Likely pathogenic rs1554076239 GRCh37 Chromosome 5, 60240757: 60240757
49 ERCC8 NM_000082.3(ERCC8): c.77+2T> G single nucleotide variant Likely pathogenic rs1554076239 GRCh38 Chromosome 5, 60944930: 60944930
50 ERCC8 NM_000082.3(ERCC8): c.1186_*1del7 deletion Uncertain significance rs1554071495 GRCh37 Chromosome 5, 60170440: 60170447

Expression for Cockayne Syndrome a

Search GEO for disease gene expression data for Cockayne Syndrome a.

Pathways for Cockayne Syndrome a

Pathways related to Cockayne Syndrome a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
2
Show member pathways
12.47 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
3
Show member pathways
12.24 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
4 12.05 ERCC2 ERCC3 ERCC4
5
Show member pathways
11.59 ERCC2 ERCC3 ERCC6
6
Show member pathways
11.16 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
7 10.72 ERCC2 ERCC3 ERCC4 ERCC6

GO Terms for Cockayne Syndrome a

Cellular components related to Cockayne Syndrome a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.85 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
2 nucleoplasm GO:0005654 9.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
3 transcription factor TFIIH holo complex GO:0005675 9.26 ERCC2 ERCC3
4 transcription factor TFIIH core complex GO:0000439 9.16 ERCC2 ERCC3
5 transcription factor TFIID complex GO:0005669 9.13 ERCC2 ERCC3 ERCC4
6 nucleotide-excision repair complex GO:0000109 8.8 ERCC4 ERCC5 ERCC8

Biological processes related to Cockayne Syndrome a 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 9.88 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
2 DNA repair GO:0006281 9.85 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
3 transcription by RNA polymerase II GO:0006366 9.8 ERCC2 ERCC3 ERCC6
4 response to oxidative stress GO:0006979 9.8 ERCC2 ERCC3 ERCC6 ERCC8
5 DNA duplex unwinding GO:0032508 9.78 ERCC2 ERCC3 ERCC6 ERCC8
6 nucleotide-excision repair, DNA incision GO:0033683 9.76 ERCC2 ERCC3 ERCC4 ERCC5
7 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.73 ERCC2 ERCC3 ERCC4 ERCC5
8 nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5
9 global genome nucleotide-excision repair GO:0070911 9.69 ERCC2 ERCC3 ERCC4
10 multicellular organism growth GO:0035264 9.62 ERCC2 ERCC6
11 transcription elongation from RNA polymerase II promoter GO:0006368 9.62 ERCC2 ERCC3
12 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.62 ERCC2 ERCC3 ERCC4 ERCC5
13 7-methylguanosine mRNA capping GO:0006370 9.61 ERCC2 ERCC3
14 embryonic organ development GO:0048568 9.61 ERCC2 ERCC3
15 transcription initiation from RNA polymerase I promoter GO:0006361 9.6 ERCC2 ERCC3
16 termination of RNA polymerase I transcription GO:0006363 9.59 ERCC2 ERCC3
17 response to X-ray GO:0010165 9.58 ERCC6 ERCC8
18 regulation of mitotic cell cycle phase transition GO:1901990 9.58 ERCC2 ERCC3
19 hair cell differentiation GO:0035315 9.57 ERCC2 ERCC3
20 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.56 ERCC4 ERCC5
21 UV protection GO:0009650 9.56 ERCC2 ERCC3 ERCC4 ERCC5
22 nucleotide-excision repair GO:0006289 9.55 ERCC2 ERCC3 ERCC4 ERCC5 ERCC8
23 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.54 ERCC2 ERCC3
24 transcription-coupled nucleotide-excision repair GO:0006283 9.43 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8
25 regulation of mitotic recombination GO:0000019 9.25 ERCC2
26 response to UV GO:0009411 9.1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8

Molecular functions related to Cockayne Syndrome a according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.89 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 hydrolase activity GO:0016787 9.8 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 protein-containing complex binding GO:0044877 9.69 ERCC5 ERCC6 ERCC8
4 nuclease activity GO:0004518 9.55 ERCC4 ERCC5
5 single-stranded DNA binding GO:0003697 9.54 ERCC4 ERCC5
6 endonuclease activity GO:0004519 9.52 ERCC4 ERCC5
7 helicase activity GO:0004386 9.5 ERCC2 ERCC3 ERCC6
8 ATP-dependent DNA helicase activity GO:0004003 9.48 ERCC2 ERCC3
9 DNA helicase activity GO:0003678 9.46 ERCC6 ERCC8
10 protein C-terminus binding GO:0008022 9.46 ERCC2 ERCC3 ERCC4 ERCC6
11 endodeoxyribonuclease activity GO:0004520 9.43 ERCC4 ERCC5
12 damaged DNA binding GO:0003684 9.43 ERCC2 ERCC3 ERCC4
13 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.37 ERCC2 ERCC3
14 DNA-dependent ATPase activity GO:0008094 9.26 ERCC2 ERCC3 ERCC6 ERCC8
15 protein N-terminus binding GO:0047485 9.02 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

Sources for Cockayne Syndrome a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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