CSB
MCID: CCK007
MIFTS: 54

Cockayne Syndrome B (CSB)

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

Aliases & Classifications for Cockayne Syndrome B

MalaCards integrated aliases for Cockayne Syndrome B:

Name: Cockayne Syndrome B 56 73 29 6
Cockayne Syndrome Type Ii 52 53 58 29
Cockayne Syndrome, Type B 56 13 39
Cockayne Syndrome Type 2 52 58
Csb 56 73
Cockayne Syndrome, Type Ii 71
Cockayne Syndrome Type B 52
Ckn2 73

Characteristics:

Orphanet epidemiological data:

58
cockayne syndrome type 2
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two types, type i or type a (classical cockayne syndrome, ) and type ii or type b (severe cockayne syndrome, )
characteristic face and body by age 2 years
death by age 6-7 years
death from pneumonia


HPO:

31
cockayne syndrome b:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Cockayne Syndrome B

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.

MalaCards based summary : Cockayne Syndrome B, also known as cockayne syndrome type ii, is related to cockayne syndrome type iii and de sanctis-cacchione syndrome, and has symptoms including seizures, ataxia and dry skin. An important gene associated with Cockayne Syndrome B is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are TCR Signaling (Qiagen) and DNA Double-Strand Break Repair. Affiliated tissues include skin, eye and bone, and related phenotypes are cataract and intellectual disability

OMIM : 56 Cockayne syndrome B (CSB) is a multisystem disorder characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer (summary by Mallery et al., 1998). Cockayne syndrome A (CSA; 216400) is caused by mutation in the ERCC8 gene (609412) on chromosome 5q11. Among patients with Cockayne syndrome, approximately 80% have mutations in the ERCC6 gene (Licht et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of Cockayne syndrome, see 216400. (133540)

NINDS : 53 Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

UniProtKB/Swiss-Prot : 73 Cockayne syndrome B: 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 B

Diseases in the Cockayne Syndrome family:

Cockayne Syndrome B Cockayne Syndrome a
Cockayne Syndrome Type Iii

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome type iii 32.3 ERCC8 ERCC6
2 de sanctis-cacchione syndrome 30.7 PGBD3 ERCC6
3 cerebro-oculo-facio-skeletal syndrome 30.4 ERCC6 ERCC1
4 uv-sensitive syndrome 1 30.4 PGBD3 ERCC6
5 cerebrooculofacioskeletal syndrome 1 30.2 PGBD3 ERCC6 ERCC1
6 xeroderma pigmentosum, complementation group b 29.9 ERCC8 ERCC6 ERCC1
7 cockayne syndrome a 29.8 POLR2L ERCC8 ERCC6 ERCC1
8 xeroderma pigmentosum, complementation group c 29.7 ERCC6 ERCC1
9 hutchinson-gilford progeria syndrome 29.7 ERCC8 ERCC6 ERCC1
10 xeroderma pigmentosum, variant type 29.2 POLR2L ERCC8 ERCC6 ERCC1 BRCA1 APEX1
11 uv-sensitive syndrome 29.1 POLR2A PGBD3 ERCC8 ERCC6 ERCC1
12 cockayne syndrome 28.8 POLR2L POLR2A PGBD3 ERCC8 ERCC6 ERCC1
13 congenital short bowel syndrome 12.3
14 craniosynostosis 2 11.5
15 premature ovarian failure 11 10.3 PGBD3 ERCC6
16 helix syndrome 10.3
17 microcephaly 10.3
18 cataract 10.3
19 skin carcinoma 10.2
20 premature aging 10.2
21 enophthalmos 10.2 ERCC8 ERCC6
22 cerebrooculofacioskeletal syndrome 2 10.2
23 cerebrooculofacioskeletal syndrome 4 10.2
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
25 xeroderma pigmentosum, complementation group f 10.0 ERCC6 ERCC1
26 ovarian cancer 10.0
27 3-methylglutaconic aciduria, type iii 10.0
28 dysphasia, familial developmental 10.0
29 alkuraya-kucinskas syndrome 10.0
30 autism spectrum disorder 10.0
31 specific language impairment 10.0
32 allergic hypersensitivity disease 10.0
33 dermatomycosis 10.0
34 liver disease 10.0
35 dentinogenesis imperfecta type 2 10.0
36 hypertonia 10.0
37 hypotonia 10.0
38 hypoxia 10.0
39 congenital amyoplasia 10.0
40 fanconi anemia, complementation group d1 10.0 ERCC6 BRCA1
41 riddle syndrome 10.0 ERCC6 BRCA1
42 fanconi anemia, complementation group j 10.0 ERCC6 BRCA1
43 huntington disease 9.9
44 lung cancer 9.9
45 macular degeneration, age-related, 5 9.9
46 autosomal recessive disease 9.9
47 sensorineural hearing loss 9.9
48 dwarfism 9.9
49 xfe progeroid syndrome 9.9 ERCC8 ERCC6 ERCC1
50 primary peritoneal carcinoma 9.9 ERCC1 BRCA1

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



Diseases related to Cockayne Syndrome B

Symptoms & Phenotypes for Cockayne Syndrome B

Human phenotypes related to Cockayne Syndrome B:

31 (show top 50) (show all 71)
# 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 arrhythmia 31 HP:0011675
18 ataxia 31 HP:0001251
19 opacification of the corneal stroma 31 HP:0007759
20 dry skin 31 HP:0000958
21 cutaneous photosensitivity 31 HP:0000992
22 nystagmus 31 HP:0000639
23 decreased nerve conduction velocity 31 HP:0000762
24 tremor 31 HP:0001337
25 strabismus 31 HP:0000486
26 abnormality of skin pigmentation 31 HP:0001000
27 cryptorchidism 31 HP:0000028
28 osteoporosis 31 HP:0000939
29 intrauterine growth retardation 31 HP:0001511
30 postnatal growth retardation 31 HP:0008897
31 hypertension 31 HP:0000822
32 atypical scarring of skin 31 HP:0000987
33 hypoplasia of the iris 31 HP:0007676
34 micropenis 31 HP:0000054
35 microphthalmia 31 HP:0000568
36 microcornea 31 HP:0000482
37 limitation of joint mobility 31 HP:0001376
38 sparse hair 31 HP:0008070
39 delayed eruption of primary teeth 31 HP:0000680
40 severe short stature 31 HP:0003510
41 cerebral atrophy 31 HP:0002059
42 polyneuropathy 31 HP:0001271
43 small for gestational age 31 HP:0001518
44 pigmentary retinopathy 31 HP:0000580
45 anhidrosis 31 HP:0000970
46 abnormality of the pinna 31 HP:0000377
47 hypoplastic iliac wing 31 HP:0002866
48 hypermetropia 31 HP:0000540
49 dermal atrophy 31 HP:0004334
50 dry hair 31 HP:0011359

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
corneal opacity
optic atrophy
nystagmus
strabismus
microcornea
more
Neurologic Central Nervous System:
seizures
cerebral atrophy
cerebellar calcifications
subcortical white matter calcifications
normal pressure hydrocephalus
more
Genitourinary Kidneys:
proteinuria
renal failure

Skin Nails Hair Skin:
dry skin
anhidrosis
scarring
photosensitivity
pigmentation
more
Skeletal:
osteoporosis

Cardiovascular Vascular:
hypertension

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

Laboratory Abnormalities:
increased cellular sensitivity to uv light
abnormal myelination in sural nerve biopsies
disturbed visual and brainstem auditory evoked responses indicative of cns demyelination

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

Abdomen Liver:
hepatomegaly

Skeletal Spine:
kyphosis
vertebral body abnormalities
intervertebral calcifications

Head And Neck Head:
microcephaly
mandible prognathism

Neurologic Peripheral Nervous System:
ataxia
peripheral neuropathy
tremor
weakness
dysmyelination
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Other:
intrauterine growth retardation
postnatal growth retardation
low birth weight
marked failure to thrive
cachectic dwarfism

Genitourinary External Genitalia Male:
micropenis

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

Clinical features from OMIM:

133540

UMLS symptoms related to Cockayne Syndrome B:


seizures, ataxia, dry skin, tremor, weakness

GenomeRNAi Phenotypes related to Cockayne Syndrome B 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 9.32 BRCA1 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 BRCA1 ERCC1 ERCC6 ERCC8
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.32 BRCA1 ERCC1 ERCC6 ERCC8

MGI Mouse Phenotypes related to Cockayne Syndrome B:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 ATF3 BRCA1 ERCC1 ERCC6 ERCC8 POLR2A
2 neoplasm MP:0002006 9.17 APEX1 ATF3 BRCA1 ERCC1 ERCC6 ERCC8

Drugs & Therapeutics for Cockayne Syndrome B

Search Clinical Trials , NIH Clinical Center for Cockayne Syndrome B

Genetic Tests for Cockayne Syndrome B

Genetic tests related to Cockayne Syndrome B:

# Genetic test Affiliating Genes
1 Cockayne Syndrome B 29 ERCC6
2 Cockayne Syndrome Type Ii 29

Anatomical Context for Cockayne Syndrome B

MalaCards organs/tissues related to Cockayne Syndrome B:

40
Skin, Eye, Bone, Brain, Spinal Cord, Lung, Colon

Publications for Cockayne Syndrome B

Articles related to Cockayne Syndrome B:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. 61 56 6
18446857 2008
2
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. 6 56
10196384 1999
3
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 56 6
9443879 1998
4
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. 56
26204423 2016
5
Cockayne syndrome group B cellular and biochemical functions. 56
14639525 2003
6
Cockayne Syndrome 6
20301516 2000
7
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 6
10767341 2000
8
Cockayne syndrome in two adult siblings. 56
8294592 1994
9
Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). 56
1951442 1991
10
Regulation of the RNAPII Pool Is Integral to the DNA Damage Response. 61
32142654 2020
11
Rat Model of Cockayne Syndrome Neurological Disease. 61
31644904 2019
12
Pre-existing H4K16ac levels in euchromatin drive DNA repair by homologous recombination in S-phase. 61
31925071 2019
13
CSB modulates the competition between HIF-1 and p53 upon hypoxia. 61
31499711 2019
14
Molecular basis of chromatin remodeling by Rhp26, a yeast CSB ortholog. 61
30867290 2019
15
Pre-existing H4K16ac levels in euchromatin drive DNA repair by homologous recombination in S-phase. 61
31286070 2019
16
Structural basis of DNA lesion recognition for eukaryotic transcription-coupled nucleotide excision repair. 61
30174298 2018
17
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family. 61
28440418 2017
18
Cockayne syndrome B protein regulates recruitment of the Elongin A ubiquitin ligase to sites of DNA damage. 61
28292928 2017
19
UV-induced proteolysis of RNA polymerase II is mediated by VCP/p97 segregase and timely orchestration by Cockayne syndrome B protein. 61
28036256 2017
20
A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repair. 61
27060134 2016
21
Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony. 61
26755826 2016
22
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation. 61
26972010 2016
23
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient. 61
26173784 2015
24
DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination. 61
26100862 2015
25
Regulation of the Rhp26ERCC6/CSB chromatin remodeler by a novel conserved leucine latch motif. 61
25512493 2014
26
Linking DNA damage, NAD(+)/SIRT1, and aging. 61
25440052 2014
27
Mitochondrial reactive oxygen species are scavenged by Cockayne syndrome B protein in human fibroblasts without nuclear DNA damage. 61
25136123 2014
28
UVB induces a genome-wide acting negative regulatory mechanism that operates at the level of transcription initiation in human cells. 61
25058334 2014
29
The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis. 61
24874740 2014
30
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. 61
24154677 2013
31
Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress. 61
23733932 2013
32
Cockayne syndrome b maintains neural precursor function. 61
23245699 2013
33
Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation. 61
22743267 2012
34
The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. 61
22483866 2012
35
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging. 61
22383384 2012
36
Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repair. 61
21918225 2011
37
BRCA1 contributes to transcription-coupled repair of DNA damage through polyubiquitination and degradation of Cockayne syndrome B protein. 61
21756275 2011
38
Downregulation of Cockayne syndrome B protein reduces human 8-oxoguanine DNA glycosylase-1 expression and repair of UV radiation-induced 8-oxo-7,8-dihydro-2'-deoxyguanine. 61
21668583 2011
39
Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo. 61
21566259 2011
40
Defective resolution of pH2AX foci and enhanced DNA breakage in ionizing radiation-treated cockayne syndrome B cells. 61
21438118 2011
41
Cockayne syndrome B protects against methamphetamine-enhanced oxidative DNA damage in murine fetal brain and postnatal neurodevelopmental deficits. 61
20673160 2011
42
Strand-specific PCR of UV radiation-damaged genomic DNA revealed an essential role of DNA-PKcs in the transcription-coupled repair. 61
21214942 2011
43
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 61
20456449 2010
44
The XPD subunit of TFIIH is required for transcription-associated but not DNA double-strand break-induced recombination in mammalian cells. 61
20833695 2010
45
Oxidative DNA damage and repair in teratogenesis and neurodevelopmental deficits. 61
20544694 2010
46
A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair. 61
20541997 2010
47
Rad26p, a transcription-coupled repair factor, is recruited to the site of DNA lesion in an elongating RNA polymerase II-dependent manner in vivo. 61
20007604 2010
48
A role for checkpoint kinase-dependent Rad26 phosphorylation in transcription-coupled DNA repair in Saccharomyces cerevisiae. 61
19901073 2010
49
Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor. 61
19580815 2009
50
Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions. 61
19221478 2009

Variations for Cockayne Syndrome B

ClinVar genetic disease variations for Cockayne Syndrome B:

6 (show top 50) (show all 256) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)SNV Pathogenic 430298 rs376526037 10:50691550-50691550 10:49483504-49483504
2 ERCC6 NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)SNV Pathogenic 435082 rs772801089 10:50680423-50680423 10:49472377-49472377
3 ERCC6 NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)SNV Pathogenic 435083 rs751292948 10:50690844-50690844 10:49482798-49482798
4 ERCC6 NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)SNV Pathogenic 522698 rs368728467 10:50682120-50682120 10:49474074-49474074
5 ERCC6 NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)SNV Pathogenic 1700 rs121917900 10:50708719-50708719 10:49500673-49500673
6 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)SNV Pathogenic 1701 rs121917901 10:50686483-50686483 10:49478437-49478437
7 ERCC6 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)SNV Pathogenic 1703 rs121917902 10:50732119-50732119 10:49524073-49524073
8 ERCC6 NM_000124.4(ERCC6):c.972dup (p.Glu325fs)duplication Pathogenic 1704 rs387906262 10:50732503-50732504 10:49524457-49524458
9 ERCC6 ERCC6, 4-BP INS, 1053TGTCinsertion Pathogenic 1705
10 ERCC6 NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)SNV Pathogenic 1708 rs121917903 10:50740782-50740782 10:49532736-49532736
11 ERCC6 NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)insertion Pathogenic 1710 10:50732441-50732442 10:49524395-49524396
12 ERCC6 NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)SNV Pathogenic 31578 rs185142838 10:50669519-50669519 10:49461473-49461473
13 ERCC6 NM_000124.4(ERCC6):c.543+4deldeletion Pathogenic 143186 rs527236039 10:50738762-50738762 10:49530716-49530716
14 ERCC6 NM_000124.4(ERCC6):c.1850dup (p.Cys617fs)duplication Pathogenic 190148 rs786205167 10:50691533-50691534 10:49483487-49483488
15 ERCC6 NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)SNV Pathogenic 598738 rs1564725764 10:50669439-50669439 10:49461393-49461393
16 ERCC6 NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)insertion Pathogenic 210956 rs797045562 10:50732625-50732626 10:49524579-49524580
17 ERCC6 NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)SNV Pathogenic 212733 rs751838040 10:50738843-50738843 10:49530797-49530797
18 ERCC6 NM_000124.4(ERCC6):c.1280dup (p.Ser429fs)duplication Pathogenic 190146 rs786205166 10:50732195-50732196 10:49524149-49524150
19 ERCC6 NM_000124.3(ERCC6):c.1684_1705deldeletion Pathogenic 190152
20 ERCC6 NM_000124.4(ERCC6):c.1999del (p.Thr667fs)deletion Pathogenic 190157 rs786205169 10:50690903-50690903 10:49482857-49482857
21 ERCC6 NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)SNV Pathogenic 190158 rs202080674 10:50690894-50690894 10:49482848-49482848
22 ERCC6 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)SNV Pathogenic 190160 rs151242354 10:50690735-50690735 10:49482689-49482689
23 ERCC6 NM_000124.4(ERCC6):c.2830-2A>GSNV Pathogenic 190163 rs373227647 10:50680518-50680518 10:49472472-49472472
24 ERCC6 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)SNV Pathogenic 190170 rs786205174 10:50669477-50669477 10:49461431-49461431
25 ERCC6 NM_000124.4(ERCC6):c.4007del (p.Asn1336fs)deletion Pathogenic 190172 rs786205175 10:50668474-50668474 10:49460428-49460428
26 ERCC6 NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)SNV Pathogenic 553383 rs751448793 10:50682102-50682102 10:49474056-49474056
27 ERCC6 NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)SNV Pathogenic 557733 rs1554787509 10:50682111-50682111 10:49474065-49474065
28 ERCC6 NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)SNV Pathogenic/Likely pathogenic 550722 rs1198241866 10:50732467-50732467 10:49524421-49524421
29 ERCC6 NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)duplication Pathogenic/Likely pathogenic 190166 rs786205170 10:50678593-50678594 10:49470547-49470548
30 ERCC6 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)deletion Pathogenic/Likely pathogenic 190167 rs786205171 10:50678470-50678470 10:49470424-49470424
31 ERCC6 NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)insertion Pathogenic/Likely pathogenic 190168 rs786205172 10:50678398-50678399 10:49470352-49470353
32 ERCC6 NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)duplication Pathogenic/Likely pathogenic 190159 rs774791374 10:50690805-50690806 10:49482759-49482760
33 ERCC6 NM_000124.4(ERCC6):c.1518del (p.Lys506fs)deletion Pathogenic/Likely pathogenic 190150 rs786205168 10:50713938-50713938 10:49505892-49505892
34 ERCC6 NM_000124.4(ERCC6):c.1526+1G>TSNV Pathogenic/Likely pathogenic 190147 rs371739894 10:50713929-50713929 10:49505883-49505883
35 ERCC6 NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)SNV Pathogenic/Likely pathogenic 225905 rs875989810 10:50736472-50736472 10:49528426-49528426
36 ERCC6 NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)SNV Pathogenic/Likely pathogenic 502165 rs906755254 10:50680507-50680507 10:49472461-49472461
37 ERCC6 NM_000124.4(ERCC6):c.-15+3G>TSNV Likely pathogenic 692034 10:50747005-50747005 10:49538959-49538959
38 ERCC6 NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)duplication Likely pathogenic 550175 rs1254008304 10:50732695-50732696 10:49524649-49524650
39 ERCC6 NM_000124.4(ERCC6):c.422+1G>CSNV Likely pathogenic 556340 rs1198472093 10:50740588-50740588 10:49532542-49532542
40 ERCC6 NM_000124.4(ERCC6):c.214del (p.Leu72fs)deletion Likely pathogenic 553889 rs1554794640 10:50740797-50740797 10:49532751-49532751
41 ERCC6 NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)SNV Likely pathogenic 551535 rs577021605 10:50740950-50740950 10:49532904-49532904
42 ERCC6 NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)deletion Likely pathogenic 830316 10:50678892-50678893 10:49470846-49470847
43 ERCC6 NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)deletion Likely pathogenic 869457 10:50667166-50667166 10:49459120-49459120
44 ERCC6 NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)SNV Likely pathogenic 190155 rs767247987 10:50691430-50691430 10:49483384-49483384
45 ERCC6 NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter)insertion Likely pathogenic 190169 rs786205173 10:50678393-50678394 10:49470347-49470348
46 ERCC6 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)deletion Likely pathogenic 190171 rs765825423 10:50669428-50669429 10:49461382-49461383
47 ERCC6 NM_000124.4(ERCC6):c.1527-2A>GSNV Likely pathogenic 558660 rs768608345 10:50708744-50708744 10:49500698-49500698
48 ERCC6 NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)duplication Likely pathogenic 554825 rs1554875154 10:50678378-50678379 10:49470332-49470333
49 ERCC6 NM_000124.4(ERCC6):c.4063-1G>CSNV Likely pathogenic 549960 rs766980240 10:50667281-50667281 10:49459235-49459235
50 ERCC6 NM_000124.4(ERCC6):c.257_258GC[1] (p.Ala87fs)short repeat Likely pathogenic 551983 rs1554794620 10:50740751-50740752 10:49532705-49532706

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

73
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Arg670Trp VAR_001218 rs202080674
2 ERCC6 p.Trp851Arg VAR_001219 rs368728467
3 ERCC6 p.Val957Gly VAR_001220
4 ERCC6 p.Pro1042Leu VAR_001221
5 ERCC6 p.Asn680Asp VAR_063511 rs155478839
6 ERCC6 p.Trp686Cys VAR_063512 rs751292948
7 ERCC6 p.Ser687Leu VAR_063513 rs102643810

Expression for Cockayne Syndrome B

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

Pathways for Cockayne Syndrome B

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 POLR2L POLR2A BRCA1 ATF3
2
Show member pathways
12.5 POLR2L POLR2A ERCC8 ERCC6 ERCC1 BRCA1
3
Show member pathways
12.39 POLR2L POLR2A ERCC8 ERCC6 ERCC1
4 12.09 POLR2A ERCC1 BRCA1 APEX1
5
Show member pathways
11.71 POLR2A ERCC8 ERCC6 ERCC1 BRCA1 APEX1
6
Show member pathways
11.52 POLR2A ERCC8 ERCC6 ERCC1
7 10.87 ERCC6 ERCC1
8 10.83 POLR2L POLR2A

GO Terms for Cockayne Syndrome B

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.28 POLR2L POLR2A PGBD3 ERCC8 ERCC6 ERCC1
2 RNA polymerase II, core complex GO:0005665 9.16 POLR2L POLR2A
3 nucleotide-excision repair complex GO:0000109 8.96 ERCC8 ERCC1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.77 POLR2L POLR2A ERCC6
2 cellular response to DNA damage stimulus GO:0006974 9.72 ERCC8 ERCC6 ERCC1 BRCA1 APEX1
3 response to oxidative stress GO:0006979 9.69 ERCC8 ERCC6 ERCC1
4 DNA repair GO:0006281 9.65 ERCC8 ERCC6 ERCC1 BRCA1 APEX1
5 nucleotide-excision repair GO:0006289 9.59 ERCC8 ERCC1
6 base-excision repair GO:0006284 9.58 ERCC6 APEX1
7 positive regulation of gene expression, epigenetic GO:0045815 9.58 POLR2L ERCC6
8 DNA recombination GO:0006310 9.58 ERCC1 BRCA1 APEX1
9 7-methylguanosine mRNA capping GO:0006370 9.57 POLR2L POLR2A
10 positive regulation of JAK-STAT cascade GO:0046427 9.56 CSH2 CSH1
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.55 POLR2L ERCC6
12 positive regulation of viral transcription GO:0050434 9.54 POLR2L POLR2A
13 animal organ development GO:0048513 9.52 CSH2 CSH1
14 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.49 ERCC6 ERCC1
15 growth hormone receptor signaling pathway GO:0060396 9.48 CSH2 CSH1
16 positive regulation of growth GO:0045927 9.46 CSH2 CSH1
17 single strand break repair GO:0000012 9.43 ERCC8 ERCC6
18 double-strand break repair via classical nonhomologous end joining GO:0097680 9.37 ERCC8 ERCC6
19 positive regulation of DNA repair GO:0045739 9.33 ERCC8 ERCC6 BRCA1
20 response to X-ray GO:0010165 9.13 ERCC8 ERCC6 ERCC1
21 transcription-coupled nucleotide-excision repair GO:0006283 9.02 POLR2L POLR2A ERCC8 ERCC6 ERCC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 POLR2L POLR2A ERCC6 ERCC1 BRCA1 ATF3
2 protein C-terminus binding GO:0008022 9.43 POLR2A ERCC6 ERCC1
3 DNA-dependent ATPase activity GO:0008094 9.37 ERCC8 ERCC6
4 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.32 POLR2L POLR2A
5 growth hormone receptor binding GO:0005131 8.96 CSH2 CSH1
6 damaged DNA binding GO:0003684 8.8 ERCC1 BRCA1 APEX1

Sources for Cockayne Syndrome B

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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