MCID: CCK003
MIFTS: 69

Cockayne Syndrome Type Ii malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cancer diseases, Bone diseases categories
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Summaries for Cockayne Syndrome Type Ii

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NIH Rare Diseases:42 Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. this syndrome also includes failure to thrive in the neonate, microcephaly, and impaired nervous system development. other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  cockayne syndrome type 1 (type a) is sometimes called “classic” cockayne syndrome and is diagnosed during early childhood. cockayne syndrome type 2 (type b) is sometimes referred to as the “connatal” type. this type is a more severe form in which growth and developmental abnormalities are present at birth. the third type, cockayne syndrome type 3 (type c) is a milder form of the disorder. cockayne syndrome is caused by mutations ineither the ercc8 (csa) or ercc6 (csb) genes and is inherited in an autosomal recessive pattern. individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood. last updated: 5/31/2011

MalaCards based summary: Cockayne Syndrome Type Ii, also known as cerebrooculofacio-skeletal syndrome 1, is related to lung cancer and xeroderma pigmentosum, and has symptoms including microcephaly, deepset eyes/enophthalmos and retinopathy. An important gene associated with Cockayne Syndrome Type Ii is ERCC6 (excision repair cross-complementation group 6), and among its related pathways are RNA Polymerase I Promoter Escape and Fanconi anemia pathway. The compounds thymine glycol and platinum compounds have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and brain, and related mouse phenotypes are adipose tissue and tumorigenesis.

NINDS:43 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 mental retardation, 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.

Descriptions from OMIM:46 133540, 214150, 216400, 216411, 278780 610756, 610758 more

Aliases & Classifications for Cockayne Syndrome Type Ii

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Cockayne Syndrome Type Ii, Aliases & Descriptions:

Name: Cockayne Syndrome Type Ii 42 43
Cerebrooculofacio-Skeletal Syndrome 1 42 20
Pena-Shokeir Syndrome Type 2 42 48
Pena Shokeir Syndrome Type 2 42 62
Cockayne Syndrome Type 2 42 48
Cockayne Syndrome Type 3 48 62
Cockayne Syndrome Type B 42 22
Cockayne Syndrome 48 62
 
Cerebrooculofacioskeletal Syndrome 1 46
Cerebrooculofacioskeletal Syndrome 48
Cockayne Syndrome, Type B 46
Pena Shokeir Ii Syndrome 43
Cockayne Syndrome Type 1 48
Cofs Syndrome 1 42
Cofs Syndrome 48
Cofs 1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cockayne syndrome:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age
pena-shokeir syndrome type 2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent
cockayne syndrome type 2:
Inheritance: Autosomal recessive


External Ids:

ICD10 via Orphanet26 Q87.1, Q87.8
UMLS via Orphanet63 C0009207, C0220722, C1859312 C2931277, C0751038, C0751039, C0751037, more
MESH via Orphanet35 D003057

Related Diseases for Cockayne Syndrome Type Ii

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Diseases in the Cockayne Syndrome Type Ii family:

Cockayne Syndrome Cockayne Syndrome Type I
Cockayne Syndrome Type Iii Ercc8-Related Cockayne Syndrome
Ercc6-Related Cockayne Syndrome

Diseases related to Cockayne Syndrome Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1lung cancer30.3ERCC1, ERCC2
2xeroderma pigmentosum30.2ERCC2, ERCC6, ERCC5, ERCC8, ERCC1, ERCC4
3fanconi's anemia29.9ERCC4, ERCC2
4photosensitive trichothiodystrophy29.7ERCC5, ERCC2, ERCC4
5cockayne syndrome29.4ERCC5, ERCC2, ERCC6, ERCC1, ERCC8, ERCC4
6xeroderma pigmentosum, group g10.4
7uv-sensitive syndrome 110.4ERCC6
8uv sensitive syndrome10.4
9progeria10.3
10neuropathy10.3
11xeroderma pigmentosum, group a10.3
12xeroderma pigmentosum, group g/cockayne syndrome10.3
13xeroderma pigmentosum, group d10.3
14cerebro-oculo-facio-skeletal syndrome10.2
15cockayne syndrome type i10.2
16cockayne syndrome type iii10.2
17hypertension10.2
18neuronitis10.2
19cerebritis10.2
20ischemia10.2
21peripheral neuropathy10.2
22neurologic diseases10.2
23epidermolysis bullosa simplex, localized10.2
24ercc8-related cockayne syndrome10.2
25ercc6-related cockayne syndrome10.2
26ataxia10.2
27xeroderma pigmentosum, group c10.2
28xeroderma pigmentosum, group f10.2
29xeroderma pigmentosum, type f/cockayne syndrome10.2
30cerebrooculofacioskeletal syndrome 410.2
31cerebrooculofacioskeletal syndrome 210.2
32micro syndrome10.1
33testicular cancer10.1ERCC2, ERCC1
34basal cell carcinoma10.1ERCC1, ERCC2
35squamous cell carcinoma of the head and neck10.1ERCC1, ERCC2
36ataxia telangiectasia10.0
37cataract10.0
38thrombocytopenia10.0
39pfeiffer syndrome10.0
40down syndrome10.0
41tetralogy of fallot10.0
42generalized dystonia10.0
43pellagra10.0
44cholestasis10.0
45dystonia10.0
46herpes simplex10.0
47lipodystrophy10.0
48lupus erythematosus10.0
49nephrotic syndrome10.0
50retinal degeneration10.0

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



Diseases related to cockayne syndrome type ii

Symptoms for Cockayne Syndrome Type Ii

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Symptoms by clinical synopsis from OMIM:

133540

Clinical features from OMIM:

133540,214150,216400,216411,278780,610756,610758

Symptoms:

48 (show all 79)
  • microcephaly
  • deepset eyes/enophthalmos
  • retinopathy
  • anomalies of nose and olfaction
  • multiple caries
  • long/large ear
  • sensorineural deafness/hearing loss
  • skin photosensitivity
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • peripheral neuropathy
  • ataxia/incoordination/trouble of the equilibrium
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • premature ageing
  • dental malocclusion
  • retinal/chorioretinal dysplasia/dystrophy
  • strabismus/squint
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • long limbs/dolichostenomelia
  • large hand
  • foot anomalies
  • skin hypoplasia/aplasia/atrophy
  • abnormal scarring/cheloids/hypertrophic scars
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • chronic arterial hypertension
  • renal/kidney anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • intracranial/cerebral calcifications
  • nerve conduction abnormality
  • eeg anomalies
  • movement disorder
  • tremor
  • restricted joint mobility/joint stiffness/ankylosis
  • early death/lethality
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cleft lip and palate
  • high vaulted/narrow palate
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • breast tissue/mammary gland absence/aplasia
  • platyspondyly
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • arthrogryposis
  • telangiectasiae of the skin
  • hair and scalp anomalies
  • cardiomyopathy/hypertrophic/dilated
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • asthenia/fatigue/weakness
  • prominent metopic suture
  • micrognathia/retrognathia/micrognathism/retrognathism
  • long/large/bulbous nose
  • broad nasal root
  • thin/retracted lips
  • protruding lips
  • camptodactyly of fingers
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypotonia
  • death in infancy
  • visual loss/blindness/amblyopia
  • central deafness/hearing loss
  • short neck
  • late puberty/hypogonadism/hypogenitalism
  • areflexia/hyporeflexia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • intrauterine growth retardation
  • talipes-varus/metatarsal varus

HPO human phenotypes related to Cockayne Syndrome Type Ii:

(show all 190)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 thin vermilion border hallmark (90%) HP:0000233
3 microcephaly hallmark (90%) HP:0000252
4 micrognathia hallmark (90%) HP:0000347
5 wide nasal bridge hallmark (90%) HP:0000431
6 cataract hallmark (90%) HP:0000518
7 muscular hypotonia hallmark (90%) HP:0001252
8 hypertonia hallmark (90%) HP:0001276
9 limitation of joint mobility hallmark (90%) HP:0001376
10 cerebral cortical atrophy hallmark (90%) HP:0002120
11 cerebral calcification hallmark (90%) HP:0002514
12 arthrogryposis multiplex congenita hallmark (90%) HP:0002804
13 short stature hallmark (90%) HP:0004322
14 abnormal nasal morphology hallmark (90%) HP:0005105
15 prominent metopic ridge hallmark (90%) HP:0005487
16 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
17 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
18 camptodactyly of finger hallmark (90%) HP:0100490
19 cognitive impairment hallmark (90%) HP:0100543
20 microcephaly hallmark (90%) HP:0000252
21 abnormality of the nose hallmark (90%) HP:0000366
22 macrotia hallmark (90%) HP:0000400
23 sensorineural hearing impairment hallmark (90%) HP:0000407
24 retinopathy hallmark (90%) HP:0000488
25 deeply set eye hallmark (90%) HP:0000490
26 carious teeth hallmark (90%) HP:0000670
27 cutaneous photosensitivity hallmark (90%) HP:0000992
28 hypertonia hallmark (90%) HP:0001276
29 hyperreflexia hallmark (90%) HP:0001347
30 incoordination hallmark (90%) HP:0002311
31 short stature hallmark (90%) HP:0004322
32 prematurely aged appearance hallmark (90%) HP:0007495
33 abnormal blistering of the skin hallmark (90%) HP:0008066
34 peripheral neuropathy hallmark (90%) HP:0009830
35 cognitive impairment hallmark (90%) HP:0100543
36 abnormality of the genital system typical (50%) HP:0000078
37 hearing impairment typical (50%) HP:0000365
38 short neck typical (50%) HP:0000470
39 visual impairment typical (50%) HP:0000505
40 cutaneous photosensitivity typical (50%) HP:0000992
41 seizures typical (50%) HP:0001250
42 reduced tendon reflexes typical (50%) HP:0001315
43 intrauterine growth retardation typical (50%) HP:0001511
44 abnormality of immune system physiology typical (50%) HP:0010978
45 strabismus typical (50%) HP:0000486
46 chorioretinal abnormality typical (50%) HP:0000532
47 dental malocclusion typical (50%) HP:0000689
48 decreased nerve conduction velocity typical (50%) HP:0000762
49 hypertension typical (50%) HP:0000822
50 atypical scarring of skin typical (50%) HP:0000987
51 large hands typical (50%) HP:0001176
52 tremor typical (50%) HP:0001337
53 limitation of joint mobility typical (50%) HP:0001376
54 disproportionate tall stature typical (50%) HP:0001519
55 abnormality of the foot typical (50%) HP:0001760
56 cerebral cortical atrophy typical (50%) HP:0002120
57 fine hair typical (50%) HP:0002213
58 eeg abnormality typical (50%) HP:0002353
59 cerebral calcification typical (50%) HP:0002514
60 kyphosis typical (50%) HP:0002808
61 generalized hyperpigmentation typical (50%) HP:0007440
62 aplasia/hypoplasia of the skin typical (50%) HP:0008065
63 abnormal hair quantity typical (50%) HP:0011362
64 optic atrophy occasional (7.5%) HP:0000648
65 talipes occasional (7.5%) HP:0001883
66 abnormal retinal pigmentation occasional (7.5%) HP:0007703
67 peripheral neuropathy occasional (7.5%) HP:0009830
68 cryptorchidism occasional (7.5%) HP:0000028
69 nephrotic syndrome occasional (7.5%) HP:0000100
70 abnormality of the palate occasional (7.5%) HP:0000174
71 oral cleft occasional (7.5%) HP:0000202
72 cataract occasional (7.5%) HP:0000518
73 optic atrophy occasional (7.5%) HP:0000648
74 delayed eruption of teeth occasional (7.5%) HP:0000684
75 platyspondyly occasional (7.5%) HP:0000926
76 seizures occasional (7.5%) HP:0001250
77 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
78 abnormality of pelvic girdle bone morphology occasional (7.5%) HP:0002644
79 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
80 abnormal retinal pigmentation occasional (7.5%) HP:0007703
81 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
82 teleangiectasia of the skin occasional (7.5%) HP:0100585
83 breast aplasia occasional (7.5%) HP:0100783
84 glomerulopathy occasional (7.5%) HP:0100820
85 autosomal recessive inheritance HP:0000007
86 cryptorchidism HP:0000028
87 micropenis HP:0000054
88 renal insufficiency HP:0000083
89 proteinuria HP:0000093
90 microcephaly HP:0000252
91 loss of facial adipose tissue HP:0000292
92 mandibular prognathia HP:0000303
93 abnormality of the pinna HP:0000377
94 sensorineural hearing impairment HP:0000407
95 slender nose HP:0000417
96 microcornea HP:0000482
97 strabismus HP:0000486
98 cataract HP:0000518
99 hypermetropia HP:0000540
100 microphthalmos HP:0000568
101 pigmentary retinopathy HP:0000580
102 decreased lacrimation HP:0000633
103 nystagmus HP:0000639
104 optic atrophy HP:0000648
105 abnormality of vision evoked potentials HP:0000649
106 carious teeth HP:0000670
107 delayed eruption of primary teeth HP:0000680
108 hypoplasia of teeth HP:0000685
109 dental malocclusion HP:0000689
110 decreased nerve conduction velocity HP:0000762
111 hypertension HP:0000822
112 osteoporosis HP:0000939
113 dry skin HP:0000958
114 anhidrosis HP:0000970
115 atypical scarring of skin HP:0000987
116 cutaneous photosensitivity HP:0000992
117 abnormality of skin pigmentation HP:0001000
118 intellectual disability HP:0001249
119 seizures HP:0001250
120 ataxia HP:0001251
121 polyneuropathy HP:0001271
122 muscle weakness HP:0001324
123 tremor HP:0001337
124 limitation of joint mobility HP:0001376
125 intrauterine growth retardation HP:0001511
126 small for gestational age HP:0001518
127 severe failure to thrive HP:0001525
128 abnormality of the hair HP:0001595
129 splenomegaly HP:0001744
130 cerebral atrophy HP:0002059
131 basal ganglia calcification HP:0002135
132 hepatomegaly HP:0002240
133 normal pressure hydrocephalus HP:0002343
134 patchy demyelination of subcortical white matter HP:0002545
135 thickened calvaria HP:0002684
136 kyphosis HP:0002808
137 hypoplastic iliac wings HP:0002866
138 abnormal peripheral myelination HP:0003130
139 increased cellular sensitivity to uv light HP:0003224
140 square pelvis HP:0003278
141 peripheral dysmyelination HP:0003469
142 severe short stature HP:0003510
143 reduced subcutaneous adipose tissue HP:0003758
144 dermal atrophy HP:0004334
145 progeroid facial appearance HP:0005328
146 abnormal auditory evoked potentials HP:0006958
147 subcortical white matter calcifications HP:0007346
148 cerebellar calcifications HP:0007352
149 hypoplasia of the iris HP:0007676
150 opacification of the corneal stroma HP:0007759
151 sparse hair HP:0008070
152 hypoplastic pelvis HP:0008839
153 postnatal growth retardation HP:0008897
154 ivory epiphyses of the phalanges of the hand HP:0010234
155 dry hair HP:0011359
156 arrhythmia HP:0011675
157 autosomal recessive inheritance HP:0000007
158 thin vermilion border HP:0000233
159 microcephaly HP:0000252
160 sloping forehead HP:0000340
161 long philtrum HP:0000343
162 micrognathia HP:0000347
163 sensorineural hearing impairment HP:0000407
164 prominent nasal bridge HP:0000426
165 deeply set eye HP:0000490
166 cataract HP:0000518
167 microphthalmos HP:0000568
168 blepharophimosis HP:0000581
169 nystagmus HP:0000639
170 osteoporosis HP:0000939
171 hirsutism HP:0001007
172 seizures HP:0001250
173 muscular hypotonia HP:0001252
174 agenesis of corpus callosum HP:0001274
175 cerebellar hypoplasia HP:0001321
176 failure to thrive HP:0001508
177 rocker bottom foot HP:0001838
178 gliosis HP:0002171
179 intellectual disability, profound HP:0002187
180 coxa valga HP:0002673
181 kyphoscoliosis HP:0002751
182 arthrogryposis multiplex congenita HP:0002804
183 elbow flexion contracture HP:0002987
184 deep longitudinal plantar crease HP:0004681
185 knee flexion contracture HP:0006380
186 wide intermamillary distance HP:0006610
187 second metatarsal posteriorly placed HP:0008125
188 joint contracture of the hand HP:0009473
189 camptodactyly HP:0012385
190 delayed myelination HP:0012448

Drugs & Therapeutics for Cockayne Syndrome Type Ii

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Drug clinical trials:

Search ClinicalTrials for Cockayne Syndrome Type Ii

Search NIH Clinical Center for Cockayne Syndrome Type Ii

Genetic Tests for Cockayne Syndrome Type Ii

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Genetic tests related to Cockayne Syndrome Type Ii:

id Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 120 ERCC6
2 Cockayne Syndrome, Type B22

Anatomical Context for Cockayne Syndrome Type Ii

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MalaCards organs/tissues related to Cockayne Syndrome Type Ii:

32
Eye, Bone, Brain, Spinal cord, Skin, Testes, Cerebellum, Kidney, Breast

Animal Models for Cockayne Syndrome Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Cockayne Syndrome Type Ii:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2ERCC6, ERCC1, ERCC2
2MP:00020068.9ERCC2, ERCC8, ERCC1, ERCC6
3MP:00053708.5ERCC6, ERCC1, ERCC4, ERCC5
4MP:00107718.4ERCC5, ERCC2, ERCC8, ERCC1, ERCC6
5MP:00053918.4USH2A, ERCC2, ERCC8, ERCC6
6MP:00053978.3ERCC5, ERCC2, ERCC8, ERCC1, ERCC6
7MP:00053878.3ERCC6, ERCC1, ERCC8, ERCC2, ERCC5
8MP:00053847.9ERCC2, ERCC4, ERCC8, ERCC1, ERCC6
9MP:00053767.9ERCC5, ERCC2, ERCC8, ERCC1, ERCC6
10MP:00053787.6ERCC6, ERCC1, ERCC8, ERCC4, ERCC2, ERCC5
11MP:00107687.6ERCC5, ERCC2, ERCC4, ERCC8, ERCC1, ERCC6

Publications for Cockayne Syndrome Type Ii

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Articles related to Cockayne Syndrome Type Ii:

idTitleAuthorsYear
1
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. (18446857)
2008
2
A clinical and radiological study of two brothers affected by Cockayne syndrome type II. (3444914)
1987

Variations for Cockayne Syndrome Type Ii

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

64
id Symbol AA change Variation ID SNP ID
1ERCC6p.Arg670TrpVAR_001218
2ERCC6p.Trp851ArgVAR_001219
3ERCC6p.Val957GlyVAR_001220
4ERCC6p.Pro1042LeuVAR_001221
5ERCC6p.Asn680AspVAR_063511
6ERCC6p.Trp686CysVAR_063512
7ERCC6p.Ser687LeuVAR_063513
8ERCC6p.Leu871ProVAR_063514
9ERCC6p.Leu987ProVAR_063515

Clinvar genetic disease variations for Cockayne Syndrome Type Ii:

6 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000124.3(ERCC6): c.543+4delAdeletionPathogenicGRCh37Chr 10, 50738762: 50738762
2ERCC1NM_001983.3(ERCC1): c.472C> T (p.Gln158Ter)single nucleotide variantPathogenicrs121913027GRCh37Chr 19, 45922409: 45922409
3ERCC1NM_001983.3(ERCC1): c.693C> G (p.Phe231Leu)single nucleotide variantPathogenicrs121913028GRCh37Chr 19, 45918128: 45918128
4ERCC2NM_000400.3(ERCC2): c.2041G> A (p.Asp681Asn)single nucleotide variantPathogenicrs121913023GRCh37Chr 19, 45855769: 45855769
5ERCC2NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp)single nucleotide variantPathogenicrs121913024GRCh37Chr 19, 45856060: 45856060
6ERCC6NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter)single nucleotide variantPathogenicrs121917900GRCh37Chr 10, 50708719: 50708719
7ERCC6NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter)single nucleotide variantPathogenicrs121917901GRCh37Chr 10, 50686483: 50686483
8ERCC6ERCC6, 1-BP DEL, 1597GdeletionPathogenic
9NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter)single nucleotide variantPathogenicrs121917902GRCh37Chr 10, 50732119: 50732119
10NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs)duplicationPathogenicrs387906262GRCh37Chr 10, 50732503: 50732504
11ERCC6ERCC6, 4-BP INS, 1053TGTCinsertionPathogenic
12ERCC6ERCC6, 2-BP DEL, 3794AAdeletionPathogenic
13ERCC6NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg)single nucleotide variantPathogenicrs4253208GRCh37Chr 10, 50678722: 50678722
14ERCC6ERCC6, 1-BP INS, 1034TinsertionPathogenic
15ERCC6NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter)single nucleotide variantPathogenicrs121917904GRCh37Chr 10, 50690855: 50690855
16ERCC6NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro)single nucleotide variantPathogenicrs121917905GRCh37Chr 10, 50679131: 50679131
17ERCC6ERCC6, 2254A-Gsingle nucleotide variantPathogenic
18ERCC8ERCC8, 279-BP DEL, 81-BP DELdeletionPathogenic
19ERCC8NM_000082.3(ERCC8): c.966C> A (p.Tyr322Ter)single nucleotide variantPathogenicrs121434323GRCh37Chr 5, 60186791: 60186791
20ERCC8NM_000082.3(ERCC8): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs121434324GRCh37Chr 5, 60240799: 60240799
21ERCC8NM_000082.3(ERCC8): c.479C> T (p.Ala160Val)single nucleotide variantPathogenicrs121434325GRCh37Chr 5, 60200621: 60200621
22ERCC8NM_000082.3(ERCC8): c.613G> C (p.Ala205Pro)single nucleotide variantPathogenicrs121434326GRCh37Chr 5, 60198273: 60198273
23ERCC6NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter)single nucleotide variantPathogenicrs185142838GRCh37Chr 10, 50669519: 50669519

Expression for genes affiliated with Cockayne Syndrome Type Ii

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Expression patterns in normal tissues for genes affiliated with Cockayne Syndrome Type Ii

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Pathways for genes affiliated with Cockayne Syndrome Type Ii

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Compounds for genes affiliated with Cockayne Syndrome Type Ii

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Compounds related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1thymine glycol449.9ERCC6, ERCC5
2platinum compounds509.8ERCC1, ERCC2
3vinorelbine44 50 1111.8ERCC1, ERCC2
4bcnu449.7ERCC2, ERCC1
5fluorouracil50 1110.7ERCC1, ERCC2
6ecteinascidin 743449.7ERCC5, ERCC2
7leucovorin44 50 1111.7ERCC1, ERCC2
8oxaliplatin44 50 1111.7ERCC2, ERCC1
9irinotecan44 50 1111.6ERCC1, ERCC2
10psoralen449.5ERCC1, ERCC4
11gemcitabine44 50 1111.5ERCC1, ERCC2
12docetaxel44 50 61 1112.5ERCC1, ERCC2
13platinum44 5010.4ERCC1, ERCC2, ERCC5
14vincristine44 50 1111.2ERCC1, ERCC2
15mitomycin c449.1ERCC4, ERCC1
16melphalan44 50 1111.1ERCC2, ERCC4, ERCC1
17thymidylate449.0ERCC2, ERCC4, ERCC1
18cyclophosphamide44 50 1111.0ERCC2, ERCC4, ERCC1
195fluorouracil449.0ERCC1, ERCC4, ERCC2
20cisplatin44 50 61 1111.5ERCC1, ERCC4, ERCC2, ERCC5

GO Terms for genes affiliated with Cockayne Syndrome Type Ii

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Cellular components related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.4ERCC2, ERCC5
2nuclear chromosome, telomeric regionGO:0007849.1ERCC4, ERCC1
3transcription factor TFIID complexGO:0056698.9ERCC4, ERCC1
4nucleotide-excision repair complexGO:0001098.9ERCC1, ERCC8, ERCC4
5nucleoplasmGO:0056547.4ERCC1, ERCC8, ERCC4, ERCC2, ERCC5, ERCC6
6nucleusGO:0056347.4ERCC2, ERCC6, ERCC1, ERCC8, ERCC4, ERCC5

Biological processes related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ATP catabolic processGO:0062009.6ERCC6, ERCC2
2response to X-rayGO:0101659.4ERCC8, ERCC1, ERCC6
3nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.4ERCC4, ERCC1
4multicellular organism growthGO:0352649.3ERCC6, ERCC1, ERCC2
5negative regulation of telomere maintenanceGO:0322059.2ERCC4, ERCC1
6hair cell differentiationGO:0353159.2ERCC2, USH2A
7nucleotide-excision repair, DNA incisionGO:0336839.2ERCC2, ERCC4
8photoreceptor cell maintenanceGO:0454949.2ERCC6, USH2A
9nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.0ERCC1, ERCC4, ERCC5
10response to oxidative stressGO:0069798.9ERCC6, ERCC1, ERCC8, ERCC2
11DNA catabolic process, endonucleolyticGO:0007378.9ERCC1, ERCC4, ERCC5
12response to UVGO:0094118.5ERCC5, ERCC4, ERCC8, ERCC6
13UV protectionGO:0096508.5ERCC5, ERCC2, ERCC4, ERCC1
14nucleotide-excision repair, DNA damage removalGO:0007188.5ERCC5, ERCC2, ERCC4, ERCC1
15transcription-coupled nucleotide-excision repairGO:0062837.7ERCC6, ERCC1, ERCC8, ERCC4, ERCC2, ERCC5
16nucleotide-excision repairGO:0062897.7ERCC5, ERCC2, ERCC4, ERCC8, ERCC1, ERCC6
17DNA repairGO:0062817.7ERCC5, ERCC2, ERCC4, ERCC8, ERCC1, ERCC6

Molecular functions related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.6ERCC6, ERCC8
2DNA helicase activityGO:0036789.5ERCC6, ERCC8
3TFIID-class transcription factor bindingGO:0010949.4ERCC1, ERCC4
4single-stranded DNA endodeoxyribonuclease activityGO:0000149.4ERCC4, ERCC1
5DNA-dependent ATPase activityGO:0080949.3ERCC2, ERCC8, ERCC6
6structure-specific DNA bindingGO:0435669.3ERCC1, ERCC4
7endodeoxyribonuclease activityGO:0045209.2ERCC4, ERCC5
8damaged DNA bindingGO:0036848.9ERCC1, ERCC4
9single-stranded DNA bindingGO:0036978.9ERCC1, ERCC4, ERCC5
10protein C-terminus bindingGO:0080228.6ERCC6, ERCC1, ERCC4, ERCC2
11protein N-terminus bindingGO:0474858.5ERCC6, ERCC4, ERCC2, ERCC5
12protein bindingGO:0055156.7USH2A, ERCC5, ERCC2, ERCC4, ERCC8, ERCC1

Products for genes affiliated with Cockayne Syndrome Type Ii

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cockayne Syndrome Type Ii

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet