CSA
MCID: CCK008
MIFTS: 59

Cockayne Syndrome a (CSA)

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

Aliases & Classifications for Cockayne Syndrome a

MalaCards integrated aliases for Cockayne Syndrome a:

Name: Cockayne Syndrome a 57 72
Cockayne Syndrome, Type a 57 13 39
Cockayne Syndrome Type a 20 29 6
Cockayne Syndrome Type I 20 58
Csa 57 72
Cockayne Syndrome Classic Form 20
Cockayne Syndrome Classical 20
Cockayne Syndrome Type 1 58
Ckn1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
cockayne syndrome a:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

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


Summaries for Cockayne Syndrome a

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Cockayne Syndrome a, also known as cockayne syndrome, type a, is related to cockayne syndrome type iii and cockayne syndrome b. 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 RNA Polymerase II Transcription Initiation And Promoter Clearance and Regulation of TP53 Activity. The drugs Mannitol and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and brain, and related phenotypes are intellectual disability and failure to thrive

GARD : 20 Cockayne syndrome is a rare disease which causes short stature, premature aging ( progeria ), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head ( microcephaly ), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities. There are three subtypes according to the severity of the disease and the onset of the symptoms: Cockayne syndrome type 1 (type A), sometimes called "classic" or "moderate" Cockayne syndrome, diagnosed during early childhood Cockayne syndrome type 2 (type B), sometimes referred to as the "severe" or "early-onset" type, presenting with growth and developmental abnormalities at birth Cockayne syndrome type 3 (type C), a milder form of the disorder Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is autosomal recessive. Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood. There is no cure yet. Treatment is supportive and may include educational programs for developmental delay, physical therapy, gastrostomy tube placement as needed; medications for spasticity and tremor as needed; use of sunscreens and sunglasses; treatment of hearing loss and cataracts ; and other forms of treatment, as needed.

UniProtKB/Swiss-Prot : 72 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 Iii

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type iii 31.6 ERCC8 ERCC6
2 cockayne syndrome b 31.3 POLR2A ERCC8 ERCC6 ERCC1 DDB1
3 xeroderma pigmentosum, complementation group f 31.0 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC1
4 xeroderma pigmentosum, complementation group g 30.2 XPA XAB2 ERCC8 ERCC6 ERCC5 ERCC4
5 xeroderma pigmentosum, complementation group b 30.0 XPA POLR2L ERCC8 ERCC6 ERCC5 ERCC4
6 cerebrooculofacioskeletal syndrome 1 29.7 ERCC6 ERCC5 ERCC1
7 cerebro-oculo-facio-skeletal syndrome 29.6 ERCC6 ERCC5 ERCC4 ERCC3 ERCC1
8 trichothiodystrophy 29.1 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC1
9 xeroderma pigmentosum, complementation group c 29.1 XPA ERCC6 ERCC3 ERCC1 DDB1
10 uv-sensitive syndrome 28.9 XPA XAB2 TCEA3 TCEA1 POLR2A HMGN1
11 xeroderma pigmentosum, variant type 28.0 XPA XAB2 RPA1 POLR2L ERCC8 ERCC6
12 cockayne syndrome 26.5 XPA XAB2 TCEA3 TCEA1 RPA1 POLR2L
13 central sleep apnea 11.1
14 sleep apnea 10.9
15 uv-sensitive syndrome 2 10.9
16 graft-versus-host disease 10.3
17 acute graft versus host disease 10.3
18 mulchandani-bhoj-conlin syndrome 10.2
19 dwarfism 10.2
20 branchiootic syndrome 1 10.1
21 autosomal recessive disease 10.1
22 fibrosis of extraocular muscles, congenital, 1 10.1
23 gingival overgrowth 10.1
24 autoimmune disease 10.1
25 aplastic anemia 10.1
26 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
27 xeroderma pigmentosum-cockayne syndrome complex 10.1 ERCC5 ERCC4 ERCC3
28 autosomal dominant non-syndromic intellectual disability 19 10.1 EP300 DDB1
29 microcephaly 10.0
30 retinal degeneration 10.0
31 premature aging 10.0
32 cystic fibrosis 10.0
33 basal ganglia calcification 10.0
34 mitochondrial complex i deficiency, nuclear type 10 10.0 NDUFAF2 ERCC8
35 progeroid syndrome 10.0
36 deficiency anemia 10.0
37 allergic disease 10.0
38 neutropenia 10.0
39 choriocarcinoma 10.0
40 congestive heart failure 10.0
41 cytokine deficiency 10.0
42 overgrowth syndrome 10.0
43 albinism, ocular, with late-onset sensorineural deafness 9.9 EP300 DDB1
44 hypertension, essential 9.9
45 yemenite deaf-blind hypopigmentation syndrome 9.9
46 mutagen sensitivity 9.9
47 alacrima, achalasia, and mental retardation syndrome 9.9
48 chromosomal disease 9.9
49 hypogonadism 9.9
50 hyperinsulinism 9.9

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:

58 31 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
4 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
5 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
6 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
7 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
8 pigmentary retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000580
9 contractures involving the joints of the feet 58 31 hallmark (90%) Very frequent (99-80%) HP:0008366
10 basal ganglia calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002135
11 absent brainstem auditory responses 58 31 hallmark (90%) Very frequent (99-80%) HP:0004463
12 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
13 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
15 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
16 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
17 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
18 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
19 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
20 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
21 abnormality of peripheral nerve conduction 58 31 frequent (33%) Frequent (79-30%) HP:0003134
22 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
23 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
24 abnormality of temperature regulation 58 31 frequent (33%) Frequent (79-30%) HP:0004370
25 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
26 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
27 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
28 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
29 progeroid facial appearance 58 31 frequent (33%) Frequent (79-30%) HP:0005328
30 decreased lacrimation 58 31 frequent (33%) Frequent (79-30%) HP:0000633
31 increased blood urea nitrogen 58 31 frequent (33%) Frequent (79-30%) HP:0003138
32 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
33 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
34 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
35 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
36 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
37 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
38 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
39 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
40 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
41 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
42 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
43 hypermelanotic macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001034
44 delayed eruption of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000680
45 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
46 hypoplasia of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0006297
47 anodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000674
48 scarring 58 31 occasional (7.5%) Occasional (29-5%) HP:0100699
49 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
50 widely spaced primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
cerebral atrophy
dementia
normal pressure hydrocephalus
patchy demyelination of subcortical white matter
more
Neurologic Peripheral Nervous System:
ataxia
gait disturbance
tremor
peripheral neuropathy
weakness
more
Cardiovascular Vascular:
hypertension

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 Nose:
slender nose

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

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

Head And Neck Eyes:
nystagmus
corneal opacity
optic atrophy
strabismus
pigmentary retinopathy
more
Skeletal Spine:
kyphosis
vertebral body abnormalities

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

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

Head And Neck Ears:
sensorineural hearing loss
malformed ears

Skeletal Skull:
thickened calvarium

Skeletal Limbs:
mild to moderate joint limitation

Skin Nails Hair:
precociously senile appearance

Skin Nails Hair Hair:
thin, dry hair

Clinical features from OMIM®:

216400 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Cockayne Syndrome a 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 9.91 ERCC4 ERCC5 ERCC6 RPA1 XAB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.91 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8 RPA1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.91 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8 RPA1
4 Decreased HIV-1 infection GR00226-A 9.73 EP300 ERCC1 ERCC5 NDUFAF2 POLR2A XAB2
5 Decreased TP53 mRNA expression GR00389-S-5 9.26 ERCC6 HMGN1
6 Decreased TP53 mRNA expression GR00389-S-6 9.26 ERCC6 HMGN1
7 Decreased replication of vaccinia virus (VACV) GR00362-A 8.85 ERCC4

MGI Mouse Phenotypes related to Cockayne Syndrome a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 DDB1 DNM1L EP300 ERCC1 ERCC3 ERCC4
2 growth/size/body region MP:0005378 10.18 DNM1L EP300 ERCC1 ERCC3 ERCC4 ERCC5
3 homeostasis/metabolism MP:0005376 10.17 DNM1L EP300 ERCC1 ERCC3 ERCC4 ERCC5
4 integument MP:0010771 9.91 DNM1L ERCC1 ERCC3 ERCC5 ERCC6 ERCC8
5 mortality/aging MP:0010768 9.89 DDB1 DNM1L EP300 ERCC1 ERCC3 ERCC4
6 liver/biliary system MP:0005370 9.81 DNM1L ERCC1 ERCC4 ERCC5 ERCC6 GPS1
7 neoplasm MP:0002006 9.28 EP300 ERCC1 ERCC3 ERCC6 ERCC8 HMGN1

Drugs & Therapeutics for Cockayne Syndrome a

Drugs for Cockayne Syndrome a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 1, Phase 2 69-65-8 6251 453
2 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Crossover Study To Evaluate and Compare the Pharmacokinetics of a Single IV Dose of D-Mannitol (Osmitrol®10%) to Single and Multiple, Escalating Doses of Liquid, Oral Prodarsan™ in Patients With Cockayne Syndrome Completed NCT01142154 Phase 1, Phase 2 Prodarsan
2 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
3 Metabolic Study of Cockayne Syndrome Recruiting NCT03044210
4 An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome Terminated NCT00985413

Search NIH Clinical Center for Cockayne Syndrome a

Genetic Tests for Cockayne Syndrome a

Genetic tests related to Cockayne Syndrome a:

# Genetic test Affiliating Genes
1 Cockayne Syndrome Type a 29 ERCC8

Anatomical Context for Cockayne Syndrome a

MalaCards organs/tissues related to Cockayne Syndrome a:

40
Eye, Bone, Brain, Skin, B Cells

Publications for Cockayne Syndrome a

Articles related to Cockayne Syndrome a:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Cockayne syndrome type A: novel mutations in eight typical patients. 61 57 6
16865293 2006
2
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 61 57 6
15744458 2005
3
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 61 6 57
14661080 2004
4
High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. 57 6
21108394 2010
5
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. 6 57
7664335 1995
6
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 61 6
29057985 2017
7
[Cockayne syndrome: a new mutation in the ERCC8 gene]. 61 6
22829088 2012
8
Response of motor complications in Cockayne syndrome to carbidopa-levodopa. 57 61
18695064 2008
9
Cockayne syndrome: a cellular sensitivity to ultraviolet light. 57 61
887325 1977
10
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
11
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 57
26204423 2016
12
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 6
27004399 2016
13
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 6
26846091 2016
14
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
15
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 6
19894250 2010
16
Cockayne syndrome in three sisters with varying clinical presentation. 57
12124741 2002
17
Cockayne syndrome and xeroderma pigmentosum. 57
11185579 2000
18
Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. 57
10970194 2000
19
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 57
10447254 1999
20
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 57
9443879 1998
21
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids. 6
9338586 1997
22
UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. 57
8876179 1996
23
The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. 57
8754844 1996
24
Genetic analysis of twenty-two patients with Cockayne syndrome. 57
8834235 1996
25
Cockayne syndrome type III with high intelligence. 57
8835332 1995
26
Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. 57
7692050 1993
27
Ocular findings in Cockayne syndrome. 57
1443019 1992
28
Cockayne syndrome: review of 140 cases. 57
1308368 1992
29
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. 57
2352945 1990
30
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. 57
2478446 1989
31
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. 57
2468771 1989
32
Renal lesions in Cockayne's syndrome. 57
3365865 1988
33
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. 57
3128691 1988
34
The Fritz-Lipmann lecture. DNA repair in human cells. Biochemistry of the hereditary diseases Fanconi's anaemia and Cockayne syndrome. 57
3109898 1987
35
Prenatal diagnosis of Cockayne's syndrome. 57
2579301 1985
36
The ultraviolet sensitivity of Cockayne syndrome cells is not a consequence of reduced cellular NAD content. 57
6201064 1984
37
Deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway. 57
6703654 1984
38
Three complementation groups in Cockayne syndrome. 57
6185841 1982
39
Identical male twins and brother with Cockayne syndrome. 57
6890311 1982
40
Early onset of Cockayne syndrome. 57
7137232 1982
41
Cockayne syndrome with early onset of manifestations. 57
7137233 1982
42
Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells. 57
7151298 1982
43
Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings. 57
7133337 1982
44
Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. 57
6174225 1982
45
Decrease of thymic hormone serum level in Cockayne syndrome. 57
7058086 1982
46
A clinical study of a family with Cockayne's syndrome. 57
7277423 1981
47
Genetic complementation groups in cockayne syndrome. 57
7280930 1981
48
Unusual sensitivity of two cockayne's syndrome cell strains to both UV and gamma irradiation. 57
7266580 1981
49
Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light. 57
7360141 1980
50
The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. 57
514720 1979

Variations for Cockayne Syndrome a

ClinVar genetic disease variations for Cockayne Syndrome a:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC8 ERCC8, 279-BP DEL, 81-BP DEL Deletion Pathogenic 1714 GRCh37:
GRCh38:
2 ERCC8 NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) SNV Pathogenic 1715 rs121434323 GRCh37: 5:60186791-60186791
GRCh38: 5:60890964-60890964
3 ERCC8 NM_000082.4(ERCC8):c.173+1119G>C SNV Pathogenic 397640 rs1043679457 GRCh37: 5:60223572-60223572
GRCh38: 5:60927745-60927745
4 ERCC8 NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) Deletion Pathogenic 554811 rs774542633 GRCh37: 5:60214093-60214097
GRCh38: 5:60918266-60918270
5 ERCC8 NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg) SNV Pathogenic 590788 rs770499406 GRCh37: 5:60194177-60194177
GRCh38: 5:60898350-60898350
6 overlap with 2 genes NC_000005.9:g.60164820_60244992del Deletion Pathogenic 617678 GRCh37: 5:60164820-60244992
GRCh38:
7 ERCC8 NM_000082.3(ERCC8):c.78-2A>T SNV Pathogenic 586967 rs748379243 GRCh37: 5:60224788-60224788
GRCh38: 5:60928961-60928961
8 ERCC8 NM_000082.3(ERCC8):c.551-1G>A SNV Pathogenic 558564 rs1554073316 GRCh37: 5:60198336-60198336
GRCh38: 5:60902509-60902509
9 ERCC8 NM_001007233.2(ERCC8):c.-252del Deletion Pathogenic 190175 rs786205176 GRCh37: 5:60224723-60224723
GRCh38: 5:60928896-60928896
10 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-65_-64del Deletion Pathogenic 558687 rs1404477615 GRCh37: 5:60214177-60214178
GRCh38: 5:60918350-60918351
11 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-61_-58dup Duplication Pathogenic 635323 rs1580023012 GRCh37: 5:60214170-60214171
GRCh38: 5:60918343-60918344
12 ERCC8 NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe) SNV Pathogenic 974940 GRCh37: 5:60217954-60217954
GRCh38: 5:60922127-60922127
13 ERCC8 NM_000082.3(ERCC8):c.618-1G>A SNV Pathogenic 551068 rs201464610 GRCh37: 5:60195555-60195555
GRCh38: 5:60899728-60899728
14 ERCC8 NM_000082.3(ERCC8):c.1042-2A>G SNV Pathogenic 551594 rs372237310 GRCh37: 5:60183349-60183349
GRCh38: 5:60887522-60887522
15 ERCC8 NM_000082.4(ERCC8):c.481+1G>C SNV Pathogenic 807412 rs1580007152 GRCh37: 5:60200618-60200618
GRCh38: 5:60904791-60904791
16 NDUFAF2 , ERCC8 NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) SNV Pathogenic 1716 rs121434324 GRCh37: 5:60240799-60240799
GRCh38: 5:60944972-60944972
17 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-83_-81delinsTG Indel Pathogenic 430102 rs1131691783 GRCh37: 5:60214194-60214196
GRCh38: 5:60918367-60918369
18 ERCC8 NM_000082.3(ERCC8):c.175A>T (p.Met59Leu) SNV Pathogenic 595882 rs140343389 GRCh37: 5:60217981-60217981
GRCh38: 5:60922154-60922154
19 ERCC8 NM_000082.3(ERCC8):c.1042-1G>A SNV Likely pathogenic 557955 rs897535441 GRCh37: 5:60183348-60183348
GRCh38: 5:60887521-60887521
20 ERCC8 NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) Duplication Likely pathogenic 424544 rs1554073177 GRCh37: 5:60195520-60195521
GRCh38: 5:60899693-60899694
21 ERCC8 , ERCC8-AS1 NM_001290285.1(ERCC8):c.-78C>G SNV Likely pathogenic 371025 rs143367518 GRCh37: 5:60214191-60214191
GRCh38: 5:60918364-60918364
22 ERCC8 NM_000082.3(ERCC8):c.1042-2A>G SNV Likely pathogenic 551594 rs372237310 GRCh37: 5:60183349-60183349
GRCh38: 5:60887522-60887522
23 ERCC8 NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) SNV Likely pathogenic 984142 GRCh37: 5:60186781-60186781
GRCh38: 5:60890954-60890954
24 ERCC8 NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) SNV Likely pathogenic 984143 GRCh37: 5:60186854-60186854
GRCh38: 5:60891027-60891027
25 ERCC8 NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter) SNV Likely pathogenic 984261 GRCh37: 5:60195530-60195530
GRCh38: 5:60899703-60899703
26 ERCC8 NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter) SNV Likely pathogenic 984262 GRCh37: 5:60214094-60214094
GRCh38: 5:60918267-60918267
27 ERCC8 , ERCC8-AS1 NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter) SNV Likely pathogenic 984263 GRCh37: 5:60214191-60214191
GRCh38: 5:60918364-60918364
28 ERCC8 NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) SNV Likely pathogenic 984264 GRCh37: 5:60217974-60217974
GRCh38: 5:60922147-60922147
29 ERCC8 NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) SNV Likely pathogenic 984265 GRCh37: 5:60224769-60224769
GRCh38: 5:60928942-60928942
30 ERCC8 NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) SNV Likely pathogenic 973767 GRCh37: 5:60194149-60194149
GRCh38: 5:60898322-60898322
31 ERCC8 NM_000082.3(ERCC8):c.928del (p.Val310fs) Deletion Likely pathogenic 558597 rs1554072713 GRCh37: 5:60186829-60186829
GRCh38: 5:60891002-60891002
32 ERCC8 NM_000082.3(ERCC8):c.843+1G>T SNV Likely pathogenic 558214 rs1305258765 GRCh37: 5:60194102-60194102
GRCh38: 5:60898275-60898275
33 ERCC8 NM_000082.3(ERCC8):c.1122+1G>A SNV Likely pathogenic 558388 rs1482664387 GRCh37: 5:60183266-60183266
GRCh38: 5:60887439-60887439
34 ERCC8 NM_000082.3(ERCC8):c.399+1G>A SNV Likely pathogenic 550005 rs774047625 GRCh37: 5:60214091-60214091
GRCh38: 5:60918264-60918264
35 ERCC8 , ERCC8-AS1 NM_000082.3(ERCC8):c.276-2A>G SNV Likely pathogenic 554190 rs1554074597 GRCh37: 5:60214217-60214217
GRCh38: 5:60918390-60918390
36 ERCC8 NM_000082.3(ERCC8):c.173+1G>A SNV Likely pathogenic 554440 rs1476095782 GRCh37: 5:60224690-60224690
GRCh38: 5:60928863-60928863
37 ERCC8 NM_000082.3(ERCC8):c.679del (p.Asp227fs) Deletion Likely pathogenic 554496 rs1554073175 GRCh37: 5:60195493-60195493
GRCh38: 5:60899666-60899666
38 ERCC8 NM_000082.3(ERCC8):c.719-2A>T SNV Likely pathogenic 550365 rs1554073117 GRCh37: 5:60194229-60194229
GRCh38: 5:60898402-60898402
39 ERCC8 NM_000082.3(ERCC8):c.1042-1G>C SNV Likely pathogenic 551549 rs897535441 GRCh37: 5:60183348-60183348
GRCh38: 5:60887521-60887521
40 ERCC8 NM_000082.3(ERCC8):c.719-2A>G SNV Likely pathogenic 552365 rs1554073117 GRCh37: 5:60194229-60194229
GRCh38: 5:60898402-60898402
41 ERCC8 NM_000082.3(ERCC8):c.482-2A>G SNV Likely pathogenic 553264 rs1554073420 GRCh37: 5:60199545-60199545
GRCh38: 5:60903718-60903718
42 ERCC8 NM_000082.3(ERCC8):c.77+2T>G SNV Likely pathogenic 553277 rs1554076239 GRCh37: 5:60240757-60240757
GRCh38: 5:60944930-60944930
43 ERCC8 NM_000082.3(ERCC8):c.600dup (p.Ile201fs) Duplication Likely pathogenic 553300 rs1468231556 GRCh37: 5:60198285-60198286
GRCh38: 5:60902458-60902459
44 ERCC8 NM_000082.3(ERCC8):c.1125del (p.Thr376fs) Deletion Uncertain significance 554003 rs1554071508 GRCh37: 5:60170508-60170508
GRCh38: 5:60874681-60874681
45 ERCC8 NM_000082.3(ERCC8):c.173+9A>G SNV Uncertain significance 354021 rs143356896 GRCh37: 5:60224682-60224682
GRCh38: 5:60928855-60928855
46 ERCC8 NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) Duplication Uncertain significance 550008 rs750622098 GRCh37: 5:60183293-60183294
GRCh38: 5:60887466-60887467
47 ERCC8 NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) SNV Uncertain significance 68753 rs281875222 GRCh37: 5:60200622-60200622
GRCh38: 5:60904795-60904795
48 ERCC8 NM_000082.3(ERCC8):c.1137del (p.Gln380fs) Deletion Uncertain significance 555817 rs1343747301 GRCh37: 5:60170496-60170496
GRCh38: 5:60874669-60874669
49 ERCC8 NM_000082.3(ERCC8):c.562_564del (p.Glu188del) Deletion Uncertain significance 556621 rs1404307838 GRCh37: 5:60198322-60198324
GRCh38: 5:60902495-60902497
50 ERCC8 NM_000082.3(ERCC8):c.1006del (p.Thr336fs) Deletion Uncertain significance 556960 rs1554072703 GRCh37: 5:60186751-60186751
GRCh38: 5:60890924-60890924

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

72
# 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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 TCEA3 TCEA1 POLR2L POLR2A ERCC3 EP300
2
Show member pathways
12.7 TCEA1 RPA1 POLR2L POLR2A ERCC3 EP300
3
Show member pathways
12.59 XPA XAB2 TCEA1 RPA1 POLR2L POLR2A
4
Show member pathways
12.53 XPA XAB2 TCEA1 RPA1 POLR2L POLR2A
5
Show member pathways
12.52 XPA XAB2 POLR2A ERCC8 ERCC6 ERCC5
6 12.38 XPA RPA1 POLR2A ERCC4 ERCC3 ERCC1
7 12.16 POLR2A HMGN1 ERCC3 EP300
8
Show member pathways
11.92 XPA RPA1 POLR2A ERCC8 ERCC6 ERCC5
9
Show member pathways
11.72 POLR2L ERCC6 ERCC3
10 11.62 RPA1 ERCC4 ERCC1
11 11.18 XPA ERCC6 ERCC4 ERCC3 ERCC1

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 10.19 XPA XAB2 TCEA3 TCEA1 RPA1 POLR2L
2 nucleoplasm GO:0005654 9.86 XPA XAB2 TCEA1 RPA1 POLR2L POLR2A
3 chromosome, telomeric region GO:0000781 9.71 RPA1 ERCC4 ERCC1 DDB1
4 DNA replication factor A complex GO:0005662 9.5 XPA RPA1 ERCC5
5 RNA polymerase II, core complex GO:0005665 9.48 POLR2L POLR2A
6 Prp19 complex GO:0000974 9.46 XAB2 POLR2A
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.43 ERCC8 DDB1
8 ERCC4-ERCC1 complex GO:0070522 9.37 ERCC4 ERCC1
9 nucleotide-excision repair factor 1 complex GO:0000110 9.33 XPA ERCC4 ERCC1
10 nucleotide-excision repair complex GO:0000109 8.92 ERCC8 ERCC5 ERCC4 ERCC1

Biological processes related to Cockayne Syndrome a according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.16 XPA XAB2 RPA1 ERCC8 ERCC6 ERCC5
2 DNA repair GO:0006281 10.1 XPA XAB2 RPA1 ERCC8 ERCC6 ERCC5
3 transcription by RNA polymerase II GO:0006366 9.95 TCEA1 POLR2L POLR2A ERCC6 ERCC3
4 response to oxidative stress GO:0006979 9.93 ERCC8 ERCC6 ERCC3 ERCC1
5 transcription, DNA-templated GO:0006351 9.92 XAB2 TCEA3 TCEA1 POLR2L POLR2A
6 response to UV GO:0009411 9.91 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
7 nucleotide-excision repair, DNA incision GO:0033683 9.91 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC1
8 nucleotide-excision repair, preincision complex assembly GO:0006294 9.89 XPA RPA1 ERCC5 ERCC3 DDB1
9 global genome nucleotide-excision repair GO:0070911 9.88 XPA ERCC4 ERCC3 ERCC1 DDB1
10 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.87 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC1
11 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.86 ERCC5 ERCC4 ERCC1
12 transcription elongation from RNA polymerase II promoter GO:0006368 9.86 TCEA1 POLR2L POLR2A ERCC3
13 DNA duplex unwinding GO:0032508 9.85 ERCC8 ERCC6 ERCC3
14 multicellular organism growth GO:0035264 9.84 ERCC6 ERCC1 EP300
15 UV protection GO:0009650 9.83 XPA ERCC5 ERCC4 ERCC3 ERCC1
16 interstrand cross-link repair GO:0036297 9.82 RPA1 ERCC4 ERCC1
17 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.8 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC1
18 positive regulation of gene expression, epigenetic GO:0045815 9.79 POLR2L ERCC6 EP300
19 7-methylguanosine mRNA capping GO:0006370 9.79 POLR2L POLR2A ERCC3
20 base-excision repair GO:0006284 9.78 XPA RPA1 ERCC6
21 transcription elongation from RNA polymerase I promoter GO:0006362 9.77 POLR2L ERCC6 ERCC3
22 nucleotide-excision repair, DNA damage recognition GO:0000715 9.76 XPA GPS1 DDB1
23 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.75 XPA ERCC3 DDB1
24 response to X-ray GO:0010165 9.74 ERCC8 ERCC6 ERCC1
25 UV-damage excision repair GO:0070914 9.71 XPA ERCC1 DDB1
26 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.7 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC1
27 regulation of mitochondrion organization GO:0010821 9.68 EP300 DNM1L
28 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.68 ERCC6 ERCC1
29 positive regulation of DNA-templated transcription, elongation GO:0032786 9.68 HMGN1 ERCC6
30 response to auditory stimulus GO:0010996 9.67 XPA ERCC8
31 single strand break repair GO:0000012 9.67 ERCC8 ERCC6
32 response to UV-C GO:0010225 9.66 HMGN1 ERCC5
33 response to UV-B GO:0010224 9.65 HMGN1 ERCC6
34 double-strand break repair via classical nonhomologous end joining GO:0097680 9.65 ERCC8 ERCC6
35 negative regulation of telomere maintenance GO:0032205 9.64 ERCC4 ERCC1
36 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.64 HMGN1 ERCC1
37 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.63 ERCC4 ERCC1
38 telomeric DNA-containing double minutes formation GO:0061819 9.62 ERCC4 ERCC1
39 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.59 XPA ERCC4
40 nucleotide-excision repair GO:0006289 9.56 XPA RPA1 ERCC8 ERCC5 ERCC4 ERCC3
41 transcription-coupled nucleotide-excision repair GO:0006283 9.53 XPA XAB2 TCEA1 RPA1 POLR2L POLR2A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.8 NDUFAF2 ERCC8 ERCC6 ERCC5 DNM1L DDB1
2 DNA binding GO:0003677 9.8 XPA TCEA3 TCEA1 RPA1 POLR2L POLR2A
3 single-stranded DNA binding GO:0003697 9.71 RPA1 ERCC5 ERCC4 ERCC1
4 endonuclease activity GO:0004519 9.7 ERCC5 ERCC4 ERCC1
5 protein N-terminus binding GO:0047485 9.67 ERCC6 ERCC5 ERCC4 ERCC3
6 DNA helicase activity GO:0003678 9.63 ERCC8 ERCC6 ERCC3
7 protein C-terminus binding GO:0008022 9.63 POLR2A ERCC6 ERCC4 ERCC3 ERCC1 EP300
8 promoter-specific chromatin binding GO:1990841 9.56 POLR2A ERCC4 ERCC3 ERCC1
9 endodeoxyribonuclease activity GO:0004520 9.51 ERCC5 ERCC4
10 TFIID-class transcription factor complex binding GO:0001094 9.49 ERCC4 ERCC1
11 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.48 ERCC4 ERCC1
12 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC4 ERCC1
13 damaged DNA binding GO:0003684 9.17 XPA RPA1 ERCC4 ERCC3 ERCC1 EP300

Sources for Cockayne Syndrome a

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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