MCID: CCK003
MIFTS: 56

Cockayne Syndrome Type Ii malady

Neuronal, Eye, Ear, Skin, Fetal, Cancer, Bone categories

Summaries for Cockayne Syndrome Type Ii

Sources:
43NIH Rare Diseases, 44NINDS, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Cockayne Syndrome Type Ii, also known as cerebrooculofacio-skeletal syndrome 1, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including microcephaly, deepset eyes/enophthalmos and retinopathy. An important gene associated with Cockayne Syndrome Type Ii is ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6), and among its related pathways are Ifosfamide Pathway, Pharmacodynamics and Fanconi anemia pathway. The compounds thymine glycol and ecteinascidin 743 have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle, and related mouse phenotypes are liver/biliary system and adipose tissue.

NINDS:44 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.

Description from OMIM:47 133540, 214150, 216400, 216411, 278780 610651, 610756, 610758 more

Aliases & Classifications for Cockayne Syndrome Type Ii

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 44NINDS, 20GeneTests, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Ear, Skin, Bone


Characteristics (Orphanet epidemiological data):

49
cockayne syndrome:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age
cerebrooculofacioskeletal syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent
cockayne syndrome type 2:
Inheritance: Autosomal recessive


Aliases & Descriptions:

cockayne syndrome type ii 43 44
cerebrooculofacio-skeletal syndrome 1 43 20
cockayne syndrome type 2 43 49
cockayne syndrome type b 43 22
cockayne syndrome 49 61
cerebrooculofacioskeletal syndrome 1 47
cerebrooculofacioskeletal syndrome 49
pena shokeir syndrome type 2 61
pena-shokeir syndrome type 2 49
cockayne syndrome, type iii 61
cockayne syndrome, type b 47
cockayne syndrome type 3 49
cockayne syndrome type 1 49
cofs syndrome 1 43
cofs syndrome 49
cofs 1 43


External Ids:

MESH via Orphanet36 D003057
ICD10 via Orphanet26 Q87.1, Q87.8
SNOMED-CT via Orphanet58 21086008
UMLS via Orphanet62 C0009207, C0751038, C0751039 C0751037, more

Related Diseases for Cockayne Syndrome Type Ii

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Cockayne Syndrome Type Ii family:

cockayne syndrome cockayne syndrome type i
cockayne syndrome type iii

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.2ERCC6, ERCC4, ERCC1, ERCC8, ERCC5, ERCC2
2cockayne syndrome30.4ERCC2, ERCC5, ERCC8, ERCC1, ERCC4, ERCC6
3fanconi's anemia30.2ERCC4, ERCC2
4xeroderma pigmentosum, group g10.7
5xeroderma pigmentosum, group g/cockayne syndrome10.7
6xeroderma pigmentosum, group c10.6
7cockayne syndrome type iii10.5
8xeroderma pigmentosum, group f10.5
9char syndrome10.4
10xeroderma pigmentosum, group b10.4
11xeroderma pigmentosum, group a10.3
12xeroderma pigmentosum, group d10.3
13fanconi syndrome10.3
14adult syndrome10.3
15progeria10.2
16n syndrome10.2
17cerebro-oculo-facio-skeletal syndrome10.2
18cockayne syndrome type i10.2
19epidermolysis bullosa simplex, localized10.1
20radiation induced cancer10.1
21ercc8-related cockayne syndrome10.1
22ercc6-related cockayne syndrome10.1
23ataxia10.1
24xeroderma pigmentosum, type f/cockayne syndrome10.1
25cerebrooculofacioskeletal syndrome 410.1
26cerebrooculofacioskeletal syndrome 210.1
27lip disease10.1
28null syndrome10.1
29bloom syndrome10.0
30ataxia telangiectasia10.0
31west syndrome10.0
32protein s deficiency10.0
33pellagra10.0
34down syndrome10.0
35protein c deficiency10.0
36b cell deficiency10.0
37thrombocytopenia10.0
38transient cerebral ischemia10.0
39micro syndrome10.0
40robinow syndrome10.0
41cataract-microcephaly-failure to thrive-kyphoscoliosis10.0
42cerebellar degeneration10.0
43faces syndrome10.0
44growth hormone deficiency10.0
45image syndrome10.0
46ck syndrome10.0
47uv-sensitive syndrome 210.0
48nephritis10.0
49nephrosis10.0
50discoid lupus erythematosus10.0

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



Diseases related to cockayne syndrome type ii

Clinical Features for Cockayne Syndrome Type Ii

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

133540,214150,216400,216411,278780,610651,610756,610758

Clinical synopsis from OMIM:

133540

Symptoms:

49 (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

Drugs & Therapeutics for Cockayne Syndrome Type Ii

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cockayne Syndrome Type Ii

Drug clinical trials:

Search ClinicalTrials for Cockayne Syndrome Type Ii

Search NIH Clinical Center for Cockayne Syndrome Type Ii

Search CenterWatch for Cockayne Syndrome Type Ii

Genetic Tests for Cockayne Syndrome Type Ii

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Cockayne Syndrome Type Ii:

33
Brain, Spinal cord, Skeletal muscle

Animal Models for Cockayne Syndrome Type Ii or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cockayne Syndrome Type Ii

Genetic Variations for Cockayne Syndrome Type Ii

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cockayne Syndrome Type Ii:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Cockayne Syndrome Type Ii

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cockayne Syndrome Type Ii

Search GEO for disease gene expression data for Cockayne Syndrome Type Ii.

Pathways for genes affiliated with Cockayne Syndrome Type Ii

Sources:
50PharmGKB, 30KEGG, 52QIAGEN, 54Reactome, 38NCBI BioSystems Database
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1ERCC4, ERCC1
29.1ERCC1, ERCC4
3
Hide members
7.7ERCC6, ERCC4, ERCC1, ERCC5, ERCC2
4
Hide members
7.1ERCC2, ERCC6, ERCC4, ERCC1, ERCC8, ERCC5
5
Hide members
7.1ERCC5, ERCC8, ERCC1, ERCC4, ERCC6, ERCC2
6
Hide members
7.1ERCC2, ERCC6, ERCC4, ERCC1, ERCC8, ERCC5

Compounds for genes affiliated with Cockayne Syndrome Type Ii

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience
See all sources

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1thymine glycol459.8ERCC6, ERCC5
2ecteinascidin 743459.8ERCC5, ERCC2
3platinum compounds509.4ERCC2, ERCC1
4psoralen459.4ERCC4, ERCC1
5vinorelbine45 1110.4ERCC1, ERCC2
6bcnu459.3ERCC2, ERCC1
7platinum45 5010.3ERCC2, ERCC1
8oxaliplatin45 50 1111.3ERCC1, ERCC2
9irinotecan45 50 1111.2ERCC2, ERCC1
10vincristine45 50 1111.2ERCC2, ERCC1
11gemcitabine45 50 1111.1ERCC2, ERCC1
12melphalan45 1110.0ERCC2, ERCC1, ERCC4
13thymidylate458.9ERCC2, ERCC1, ERCC4
14cyclophosphamide45 50 1110.9ERCC4, ERCC1, ERCC2
155fluorouracil458.9ERCC2, ERCC1, ERCC4
16mitomycin c458.8ERCC1, ERCC4
17cisplatin45 50 60 1111.5ERCC2, ERCC5, ERCC1, ERCC4

GO Terms for genes affiliated with Cockayne Syndrome Type Ii

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.5ERCC2, ERCC5
2nuclear chromosome, telomeric regionGO:0007849.0ERCC4, ERCC1
3transcription factor TFIID complexGO:0056698.8ERCC4, ERCC1
4nucleotide-excision repair complexGO:0001098.6ERCC8, ERCC1, ERCC4
5nucleoplasmGO:0056547.2ERCC5, ERCC8, ERCC1, ERCC4, ERCC6, ERCC2
6nucleusGO:0056347.1ERCC4, ERCC2, ERCC5, ERCC8, ERCC1, ERCC6

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incisionGO:0336839.4ERCC4, ERCC2
2nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.2ERCC4, ERCC1
3negative regulation of telomere maintenanceGO:0322058.8ERCC4, ERCC1
4nucleotide-excision repair, DNA incision, 3-to lesionGO:0062958.8ERCC4, ERCC1, ERCC5
5multicellular organism growthGO:0352648.8ERCC6, ERCC1, ERCC2
6response to X-rayGO:0101658.7ERCC6, ERCC8, ERCC1
7negative regulation of apoptotic processGO:0430668.7ERCC2, ERCC5, ERCC1
8response to UVGO:0094118.6ERCC6, ERCC4, ERCC5, ERCC8
9UV protectionGO:0096508.4ERCC4, ERCC1, ERCC5, ERCC2
10nucleotide-excision repair, DNA damage removalGO:0007188.4ERCC5, ERCC1, ERCC4, ERCC2
11response to oxidative stressGO:0069798.3ERCC6, ERCC1, ERCC8, ERCC2
12transcription-coupled nucleotide-excision repairGO:0062837.4ERCC8, ERCC6, ERCC4, ERCC1, ERCC5, ERCC2
13nucleotide-excision repairGO:0062897.4ERCC8, ERCC5, ERCC1, ERCC4, ERCC6, ERCC2
14DNA repairGO:0062817.4ERCC8, ERCC2, ERCC1, ERCC4, ERCC6, ERCC5

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:0000149.8ERCC1
2endodeoxyribonuclease activityGO:0045209.5ERCC4, ERCC5
3DNA helicase activityGO:0036789.4ERCC8, ERCC6
4protein complex bindingGO:0324039.4ERCC6, ERCC8
5TFIID-class transcription factor bindingGO:0010949.3ERCC4, ERCC1
6structure-specific DNA bindingGO:0435669.2ERCC4, ERCC1
7DNA-dependent ATPase activityGO:0080949.2ERCC8, ERCC2, ERCC6
8damaged DNA bindingGO:0036849.0ERCC1, ERCC4
9protein N-terminus bindingGO:0474858.8ERCC6, ERCC4, ERCC5, ERCC2
10single-stranded DNA bindingGO:0036978.8ERCC5, ERCC4, ERCC1
11protein C-terminus bindingGO:0080228.5ERCC1, ERCC4, ERCC6, ERCC2
12protein bindingGO:0055156.8ERCC6, ERCC4, ERCC2, ERCC5, ERCC8, ERCC1

Products for genes affiliated with Cockayne Syndrome Type Ii

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Sources for Cockayne Syndrome Type Ii

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet