CSA
MCID: CCK008
MIFTS: 55

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 56 73
Cockayne Syndrome, Type a 56 13 39
Cockayne Syndrome Type a 52 29 6
Cockayne Syndrome Type I 52 58
Csa 56 73
Cockayne Syndrome Classic Form 52
Cockayne Syndrome Classical 52
Cockayne Syndrome Type 1 58
Ckn1 73

Characteristics:

OMIM:

56
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 : 56 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 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 DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Mannitol and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are cataract and intellectual disability

NIH Rare Diseases : 52 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 : 73 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 173)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type iii 32.0 ERCC8 ERCC6
2 cockayne syndrome b 30.3 POLR2L ERCC8 ERCC6 ERCC1
3 xeroderma pigmentosum, complementation group f 29.9 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
4 uv-sensitive syndrome 29.3 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
5 skin carcinoma 29.0 ERCC6 ERCC3 ERCC2
6 autosomal recessive disease 28.9 ERCC6 ERCC3 ERCC2 ERCC1
7 xeroderma pigmentosum, complementation group c 28.6 ERCC6 ERCC3 ERCC1 DDB1
8 microcephaly 28.6 ERCC6 ERCC5 ERCC4 ERCC2 ERCC1
9 cerebro-oculo-facio-skeletal syndrome 27.9 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
10 trichothiodystrophy 27.8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
11 cockayne syndrome 27.0 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
12 xeroderma pigmentosum, complementation group b 26.9 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
13 xeroderma pigmentosum, complementation group g 26.8 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
14 xeroderma pigmentosum, variant type 25.9 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
15 sleep apnea 11.5
16 uv-sensitive syndrome 2 11.5
17 graft-versus-host disease 10.4
18 acute graft versus host disease 10.4
19 gingival overgrowth 10.2
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
21 aplastic anemia 10.2
22 autoimmune disease 10.2
23 dwarfism 10.2
24 central sleep apnea 10.2
25 enophthalmos 10.1 ERCC8 ERCC6
26 neutropenia 10.1
27 congestive heart failure 10.1
28 overgrowth syndrome 10.1
29 branchiootic syndrome 1 10.1
30 fanconi anemia, complementation group q 10.0 ERCC6 ERCC4
31 renal fibrosis 10.0
32 mucositis 10.0
33 sensorineural hearing loss 10.0
34 heart disease 10.0
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
36 uv-sensitive syndrome 3 10.0
37 myelodysplastic syndrome 10.0
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
39 leukemia, chronic myeloid 10.0
40 anxiety 10.0
41 carpal tunnel syndrome 10.0
42 pancytopenia 10.0
43 acute kidney tubular necrosis 10.0
44 squamous cell carcinoma 10.0
45 choriocarcinoma 10.0
46 kidney disease 10.0
47 eye disease 10.0
48 myeloid leukemia 10.0
49 cytokine deficiency 10.0
50 tremor 10.0

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:

31 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 intellectual disability 31 HP:0001249
3 splenomegaly 31 HP:0001744
4 hepatomegaly 31 HP:0002240
5 kyphosis 31 HP:0002808
6 mandibular prognathia 31 HP:0000303
7 dental malocclusion 31 HP:0000689
8 carious teeth 31 HP:0000670
9 thickened calvaria 31 HP:0002684
10 microcephaly 31 HP:0000252
11 sensorineural hearing impairment 31 HP:0000407
12 optic atrophy 31 HP:0000648
13 abnormality of visual evoked potentials 31 HP:0000649
14 proteinuria 31 HP:0000093
15 muscle weakness 31 HP:0001324
16 renal insufficiency 31 HP:0000083
17 gait disturbance 31 HP:0001288
18 arrhythmia 31 HP:0011675
19 ataxia 31 HP:0001251
20 opacification of the corneal stroma 31 HP:0007759
21 dry skin 31 HP:0000958
22 cutaneous photosensitivity 31 HP:0000992
23 nystagmus 31 HP:0000639
24 decreased nerve conduction velocity 31 HP:0000762
25 tremor 31 HP:0001337
26 strabismus 31 HP:0000486
27 abnormality of skin pigmentation 31 HP:0001000
28 cryptorchidism 31 HP:0000028
29 intrauterine growth retardation 31 HP:0001511
30 hypertension 31 HP:0000822
31 atypical scarring of skin 31 HP:0000987
32 dysarthria 31 HP:0001260
33 micropenis 31 HP:0000054
34 limitation of joint mobility 31 HP:0001376
35 severe postnatal growth retardation 31 HP:0008850
36 sparse hair 31 HP:0008070
37 delayed eruption of primary teeth 31 HP:0000680
38 hypogonadism 31 HP:0000135
39 cerebral atrophy 31 HP:0002059
40 polyneuropathy 31 HP:0001271
41 dementia 31 HP:0000726
42 pigmentary retinopathy 31 HP:0000580
43 anhidrosis 31 HP:0000970
44 abnormality of the pinna 31 HP:0000377
45 irregular menstruation 31 HP:0000858
46 hypoplastic iliac wing 31 HP:0002866
47 hypermetropia 31 HP:0000540
48 dry hair 31 HP:0011359
49 hypoplastic pelvis 31 HP:0008839
50 hypoplasia of teeth 31 HP:0000685

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
corneal opacity
optic atrophy
nystagmus
strabismus
pigmentary retinopathy
more
Neurologic Central Nervous System:
seizures
cerebral atrophy
dementia
normal pressure hydrocephalus
patchy demyelination of subcortical white matter
more
Genitourinary Kidneys:
proteinuria
renal failure

Skin Nails Hair Skin:
dry skin
anhidrosis
scarring
photosensitivity
pigmentation
more
Growth Other:
intrauterine growth retardation
cachectic dwarfism
severe postnatal growth deficiency

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

Abdomen Liver:
hepatomegaly

Skeletal Spine:
kyphosis
vertebral body abnormalities

Head And Neck Head:
microcephaly
mandible prognathism

Neurologic Peripheral Nervous System:
gait disturbance
ataxia
peripheral neuropathy
tremor
weakness
more
Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Cardiovascular Vascular:
hypertension

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

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 9.78 ERCC4 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.78 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8 DDB1
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.43 ERCC1 ERCC8
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.43 ERCC1 ERCC5
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 ERCC1 ERCC5

MGI Mouse Phenotypes related to Cockayne Syndrome a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
2 growth/size/body region MP:0005378 9.8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
3 integument MP:0010771 9.63 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
4 mortality/aging MP:0010768 9.56 DDB1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
5 neoplasm MP:0002006 9.02 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8

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

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
Skin, Bone, Eye, Brain, B Cells

Publications for Cockayne Syndrome a

Articles related to Cockayne Syndrome a:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. 56 6 61
15744458 2005
2
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. 61 56 6
14661080 2004
3
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. 6 56
21108394 2010
4
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. 56 6
7664335 1995
5
Response of motor complications in Cockayne syndrome to carbidopa-levodopa. 61 56
18695064 2008
6
Cockayne syndrome type A: novel mutations in eight typical patients. 56 61
16865293 2006
7
Cockayne syndrome: a cellular sensitivity to ultraviolet light. 61 56
887325 1977
8
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 56
26204423 2016
9
Cockayne syndrome in three sisters with varying clinical presentation. 56
12124741 2002
10
Cockayne Syndrome 6
20301516 2000
11
Cockayne syndrome and xeroderma pigmentosum. 56
11185579 2000
12
Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels. 56
10970194 2000
13
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 56
10447254 1999
14
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 56
9443879 1998
15
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
16
UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. 56
8876179 1996
17
The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. 56
8754844 1996
18
Genetic analysis of twenty-two patients with Cockayne syndrome. 56
8834235 1996
19
Cockayne syndrome type III with high intelligence. 56
8835332 1995
20
Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. 56
7692050 1993
21
Ocular findings in Cockayne syndrome. 56
1443019 1992
22
Cockayne syndrome: review of 140 cases. 56
1308368 1992
23
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. 56
2352945 1990
24
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. 56
2478446 1989
25
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. 56
2468771 1989
26
Renal lesions in Cockayne's syndrome. 56
3365865 1988
27
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. 56
3128691 1988
28
The Fritz-Lipmann lecture. DNA repair in human cells. Biochemistry of the hereditary diseases Fanconi's anaemia and Cockayne syndrome. 56
3109898 1987
29
Prenatal diagnosis of Cockayne's syndrome. 56
2579301 1985
30
The ultraviolet sensitivity of Cockayne syndrome cells is not a consequence of reduced cellular NAD content. 56
6201064 1984
31
Deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway. 56
6703654 1984
32
Three complementation groups in Cockayne syndrome. 56
6185841 1982
33
Early onset of Cockayne syndrome. 56
7137232 1982
34
Cockayne syndrome with early onset of manifestations. 56
7137233 1982
35
Identical male twins and brother with Cockayne syndrome. 56
6890311 1982
36
Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells. 56
7151298 1982
37
Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings. 56
7133337 1982
38
Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. 56
6174225 1982
39
Decrease of thymic hormone serum level in Cockayne syndrome. 56
7058086 1982
40
A clinical study of a family with Cockayne's syndrome. 56
7277423 1981
41
Genetic complementation groups in cockayne syndrome. 56
7280930 1981
42
Unusual sensitivity of two cockayne's syndrome cell strains to both UV and gamma irradiation. 56
7266580 1981
43
Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light. 56
7360141 1980
44
The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. 56
514720 1979
45
DNA repair in Cockayne syndrome. 56
747187 1978
46
Cockayne's syndrome and emphysema. 56
309750 1978
47
Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome. 56
655905 1978
48
Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. 56
641373 1978
49
Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. 56
837626 1977
50
Genetics and dermatology or if I were to rewrite Cockayne's Inherited Abnormalities of the Skin. 56
4575893 1973

Variations for Cockayne Syndrome a

ClinVar genetic disease variations for Cockayne Syndrome a:

6 (show top 50) (show all 99) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC8 NM_000082.4(ERCC8):c.173+1119G>CSNV Pathogenic 397640 rs1043679457 5:60223572-60223572 5:60927745-60927745
2 ERCC8 NM_001290285.1(ERCC8):c.-83_-81delinsTGindel Pathogenic 430102 rs1131691783 5:60214194-60214196 5:60918367-60918369
3 ERCC8 NM_000082.3(ERCC8):c.618-1G>ASNV Pathogenic 551068 rs201464610 5:60195555-60195555 5:60899728-60899728
4 ERCC8 NM_001290285.1(ERCC8):c.-65_-64deldeletion Pathogenic 558687 rs1404477615 5:60214177-60214178 5:60918350-60918351
5 ERCC8 NM_000082.3(ERCC8):c.551-1G>ASNV Pathogenic 558564 rs1554073316 5:60198336-60198336 5:60902509-60902509
6 ERCC8 NM_000082.3(ERCC8):c.394_398del (p.Leu132fs)deletion Pathogenic 554811 rs774542633 5:60214093-60214097 5:60918266-60918270
7 ERCC8 NM_000082.3(ERCC8):c.78-2A>TSNV Pathogenic 586967 rs748379243 5:60224788-60224788 5:60928961-60928961
8 ERCC8 NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg)SNV Pathogenic 590788 rs770499406 5:60194177-60194177 5:60898350-60898350
9 ERCC8 , NDUFAF2 NC_000005.9:g.60164820_60244992deldeletion Pathogenic 617678 5:60164820-60244992
10 ERCC8 NM_001290285.1(ERCC8):c.-61_-58dupduplication Pathogenic 635323 5:60214170-60214171 5:60918343-60918344
11 ERCC8 ERCC8, 279-BP DEL, 81-BP DELdeletion Pathogenic 1714
12 ERCC8 NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter)SNV Pathogenic 1715 rs121434323 5:60186791-60186791 5:60890964-60890964
13 ERCC8 , NDUFAF2 NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter)SNV Pathogenic 1716 rs121434324 5:60240799-60240799 5:60944972-60944972
14 ERCC8 NM_000082.4(ERCC8):c.481+1G>CSNV Pathogenic 807412 5:60200618-60200618 5:60904791-60904791
15 ERCC8 NM_001007233.2(ERCC8):c.-252deldeletion Pathogenic 190175 rs786205176 5:60224723-60224723 5:60928896-60928896
16 ERCC8 NM_001290285.1(ERCC8):c.-78C>GSNV Pathogenic 371025 rs143367518 5:60214191-60214191 5:60918364-60918364
17 ERCC8 NM_000082.3(ERCC8):c.1042-2A>GSNV Pathogenic/Likely pathogenic 551594 rs372237310 5:60183349-60183349 5:60887522-60887522
18 ERCC8 NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter)duplication Pathogenic/Likely pathogenic 424544 rs1554073177 5:60195520-60195521 5:60899693-60899694
19 ERCC8 NM_000082.3(ERCC8):c.1122+1G>ASNV Likely pathogenic 558388 rs1482664387 5:60183266-60183266 5:60887439-60887439
20 ERCC8 NM_000082.3(ERCC8):c.843+1G>TSNV Likely pathogenic 558214 rs1305258765 5:60194102-60194102 5:60898275-60898275
21 ERCC8 NM_000082.3(ERCC8):c.719-2A>TSNV Likely pathogenic 550365 rs1554073117 5:60194229-60194229 5:60898402-60898402
22 ERCC8 NM_000082.3(ERCC8):c.679del (p.Asp227fs)deletion Likely pathogenic 554496 rs1554073175 5:60195493-60195493 5:60899666-60899666
23 ERCC8 NM_000082.3(ERCC8):c.600dup (p.Ile201fs)duplication Likely pathogenic 553300 rs1468231556 5:60198285-60198286 5:60902458-60902459
24 ERCC8 NM_000082.3(ERCC8):c.399+1G>ASNV Likely pathogenic 550005 rs774047625 5:60214091-60214091 5:60918264-60918264
25 ERCC8 NM_000082.3(ERCC8):c.77+2T>GSNV Likely pathogenic 553277 rs1554076239 5:60240757-60240757 5:60944930-60944930
26 ERCC8 NM_000082.3(ERCC8):c.276-2A>GSNV Likely pathogenic 554190 rs1554074597 5:60214217-60214217 5:60918390-60918390
27 ERCC8 NM_000082.3(ERCC8):c.928del (p.Val310fs)deletion Likely pathogenic 558597 rs1554072713 5:60186829-60186829 5:60891002-60891002
28 ERCC8 NM_000082.3(ERCC8):c.173+1G>ASNV Likely pathogenic 554440 rs1476095782 5:60224690-60224690 5:60928863-60928863
29 ERCC8 NM_000082.3(ERCC8):c.1042-1G>CSNV Likely pathogenic 551549 rs897535441 5:60183348-60183348 5:60887521-60887521
30 ERCC8 NM_000082.3(ERCC8):c.1042-1G>ASNV Likely pathogenic 557955 rs897535441 5:60183348-60183348 5:60887521-60887521
31 ERCC8 NM_000082.3(ERCC8):c.719-2A>GSNV Likely pathogenic 552365 rs1554073117 5:60194229-60194229 5:60898402-60898402
32 ERCC8 NM_000082.3(ERCC8):c.482-2A>GSNV Likely pathogenic 553264 rs1554073420 5:60199545-60199545 5:60903718-60903718
33 ERCC8 , NDUFAF2 NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)SNV Conflicting interpretations of pathogenicity 419231 rs199754807 5:60241196-60241196 5:60945369-60945369
34 ERCC8 NM_000082.3(ERCC8):c.655G>C (p.Ala219Pro)SNV Conflicting interpretations of pathogenicity 702384 5:60195517-60195517 5:60899690-60899690
35 ERCC8 NM_000082.3(ERCC8):c.1023A>G (p.Val341=)SNV Conflicting interpretations of pathogenicity 765809 5:60186734-60186734 5:60890907-60890907
36 ERCC8 NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys)SNV Conflicting interpretations of pathogenicity 198989 rs61754098 5:60194107-60194107 5:60898280-60898280
37 ERCC8 NM_000082.3(ERCC8):c.479C>T (p.Ala160Val)SNV Conflicting interpretations of pathogenicity 1717 rs121434325 5:60200621-60200621 5:60904794-60904794
38 ERCC8 NM_000082.3(ERCC8):c.472T>C (p.Leu158=)SNV Conflicting interpretations of pathogenicity 354017 rs561001438 5:60200628-60200628 5:60904801-60904801
39 ERCC8 NM_000082.3(ERCC8):c.173+9A>GSNV Conflicting interpretations of pathogenicity 354021 rs143356896 5:60224682-60224682 5:60928855-60928855
40 ERCC8 NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly)SNV Conflicting interpretations of pathogenicity 354022 rs373174008 5:60224715-60224715 5:60928888-60928888
41 ERCC8 NM_000082.3(ERCC8):c.66G>A (p.Glu22=)SNV Conflicting interpretations of pathogenicity 354023 rs149130938 5:60240770-60240770 5:60944943-60944943
42 ERCC8 NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser)SNV Uncertain significance 354020 rs886060722 5:60214180-60214180 5:60918353-60918353
43 ERCC8 NM_000082.3(ERCC8):c.-25G>CSNV Uncertain significance 354025 rs745927528 5:60240860-60240860 5:60945033-60945033
44 ERCC8 NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro)SNV Uncertain significance 354015 rs886060721 5:60194134-60194134 5:60898307-60898307
45 ERCC8 NM_000082.3(ERCC8):c.551-10G>TSNV Uncertain significance 354016 rs758296965 5:60198345-60198345 5:60902518-60902518
46 ERCC8 , NDUFAF2 NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu)SNV Uncertain significance 354032 rs886060726 5:60241100-60241100 5:60945273-60945273
47 ERCC8 NM_000082.3(ERCC8):c.*724C>GSNV Uncertain significance 354005 rs886060718 5:60169718-60169718 5:60873891-60873891
48 ERCC8 NM_000082.3(ERCC8):c.430G>A (p.Val144Ile)SNV Uncertain significance 354018 rs192695896 5:60200670-60200670 5:60904843-60904843
49 ERCC8 NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn)SNV Uncertain significance 546240 rs141845482 5:60186745-60186745 5:60890918-60890918
50 ERCC8 NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro)SNV Uncertain significance 1718 rs121434326 5:60198273-60198273 5:60902446-60902446

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
2
Show member pathways
12.47 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
3
Show member pathways
12.34 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
4 12.24 ERCC4 ERCC3 ERCC2 ERCC1 DDB1
5
Show member pathways
11.75 POLR2L ERCC6 ERCC3 ERCC2
6
Show member pathways
11.29 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
7 11.12 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
8
Show member pathways
10.92 ERCC4 ERCC1

GO Terms for Cockayne Syndrome a

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.02 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
2 nuclear chromosome, telomeric region GO:0000784 9.61 ERCC4 ERCC1 DDB1
3 nucleoplasm GO:0005654 9.61 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
4 transcription factor TFIID complex GO:0005669 9.49 ERCC3 ERCC2
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.48 ERCC8 DDB1
6 transcription factor TFIIH holo complex GO:0005675 9.46 ERCC3 ERCC2
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.4 ERCC8 DDB1
8 transcription factor TFIIH core complex GO:0000439 9.32 ERCC3 ERCC2
9 ERCC4-ERCC1 complex GO:0070522 9.26 ERCC4 ERCC1
10 nucleotide-excision repair factor 1 complex GO:0000110 9.16 ERCC4 ERCC1
11 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 39)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.1 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
2 DNA repair GO:0006281 10.06 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
3 response to oxidative stress GO:0006979 9.93 ERCC8 ERCC6 ERCC3 ERCC2 ERCC1
4 transcription by RNA polymerase II GO:0006366 9.92 POLR2L ERCC6 ERCC3 ERCC2
5 global genome nucleotide-excision repair GO:0070911 9.88 ERCC4 ERCC3 ERCC2 ERCC1 DDB1
6 response to UV GO:0009411 9.88 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
7 DNA duplex unwinding GO:0032508 9.85 ERCC8 ERCC6 ERCC3 ERCC2
8 nucleotide-excision repair, DNA incision GO:0033683 9.85 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1 DDB1
9 transcription initiation from RNA polymerase II promoter GO:0006367 9.84 POLR2L ERCC3 ERCC2
10 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.83 ERCC5 ERCC4 ERCC1
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.83 POLR2L ERCC6 ERCC3 ERCC2
12 UV protection GO:0009650 9.83 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
13 multicellular organism growth GO:0035264 9.82 ERCC6 ERCC2 ERCC1
14 regulation of mitotic cell cycle phase transition GO:1901990 9.82 ERCC3 ERCC2 DDB1
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.81 ERCC5 ERCC3 ERCC2 DDB1
16 transcription elongation from RNA polymerase II promoter GO:0006368 9.8 POLR2L ERCC3 ERCC2
17 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.8 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1 DDB1
18 embryonic organ development GO:0048568 9.77 ERCC3 ERCC2 ERCC1
19 transcription initiation from RNA polymerase I promoter GO:0006361 9.77 POLR2L ERCC3 ERCC2
20 7-methylguanosine mRNA capping GO:0006370 9.76 POLR2L ERCC3 ERCC2
21 termination of RNA polymerase I transcription GO:0006363 9.75 POLR2L ERCC3 ERCC2
22 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.74 ERCC3 ERCC2 DDB1
23 response to X-ray GO:0010165 9.73 ERCC8 ERCC6 ERCC1
24 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.73 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1 DDB1
25 double-strand break repair via nonhomologous end joining GO:0006303 9.68 ERCC4 ERCC1
26 interstrand cross-link repair GO:0036297 9.68 ERCC4 ERCC1
27 positive regulation of gene expression, epigenetic GO:0045815 9.67 POLR2L ERCC6
28 positive regulation of DNA repair GO:0045739 9.67 ERCC8 ERCC6
29 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.66 ERCC6 ERCC1
30 single strand break repair GO:0000012 9.65 ERCC8 ERCC6
31 UV-damage excision repair GO:0070914 9.65 ERCC1 DDB1
32 double-strand break repair via classical nonhomologous end joining GO:0097680 9.64 ERCC8 ERCC6
33 hair cell differentiation GO:0035315 9.63 ERCC3 ERCC2
34 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.63 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1 DDB1
35 negative regulation of telomere maintenance GO:0032205 9.62 ERCC4 ERCC1
36 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.61 ERCC4 ERCC1
37 telomeric DNA-containing double minutes formation GO:0061819 9.61 ERCC4 ERCC1
38 nucleotide-excision repair GO:0006289 9.5 ERCC8 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
39 transcription-coupled nucleotide-excision repair GO:0006283 9.28 POLR2L ERCC8 ERCC6 ERCC5 ERCC4 ERCC3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
2 DNA binding GO:0003677 9.97 POLR2L ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
3 protein-containing complex binding GO:0044877 9.83 ERCC8 ERCC6 ERCC5 DDB1
4 helicase activity GO:0004386 9.74 ERCC6 ERCC3 ERCC2
5 nuclease activity GO:0004518 9.73 ERCC5 ERCC4 ERCC1
6 single-stranded DNA binding GO:0003697 9.69 ERCC5 ERCC4 ERCC1
7 protein C-terminus binding GO:0008022 9.65 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
8 endonuclease activity GO:0004519 9.63 ERCC5 ERCC4 ERCC1
9 DNA helicase activity GO:0003678 9.62 ERCC8 ERCC6 ERCC3 ERCC2
10 promoter-specific chromatin binding GO:1990841 9.61 ERCC4 ERCC3 ERCC1
11 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.58 ERCC3 ERCC2
12 endodeoxyribonuclease activity GO:0004520 9.55 ERCC5 ERCC4
13 TFIID-class transcription factor complex binding GO:0001094 9.54 ERCC4 ERCC1
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.48 ERCC4 ERCC1
15 DNA-dependent ATPase activity GO:0008094 9.46 ERCC8 ERCC6 ERCC3 ERCC2
16 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.4 ERCC4 ERCC1
17 protein N-terminus binding GO:0047485 9.35 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
18 damaged DNA binding GO:0003684 9.02 ERCC4 ERCC3 ERCC2 ERCC1 DDB1

Sources for Cockayne Syndrome a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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