MCID: CCK003
MIFTS: 70

Cockayne Syndrome Type Ii malady

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

Summaries for Cockayne Syndrome Type Ii

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42NIH Rare Diseases, 43NINDS, 46OMIM, 32MalaCards
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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: Cockayne Syndrome Type Ii, also known as cerebrooculofacio-skeletal syndrome 1, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including cataract/lens opacification, long/large/bulbous nose and broad nasal root. 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 eye, brain and skin, and related mouse phenotypes are liver/biliary system and adipose tissue.

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.

Description from OMIM:46 133540, 214150, 216400, 216411, 278780 610651, 610756, 610758 more

Aliases & Classifications for Cockayne Syndrome Type Ii

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48Orphanet, 60UMLS, 42NIH Rare Diseases, 43NINDS, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 43
cerebrooculofacio-skeletal syndrome 1 42 20
cockayne syndrome type 2 42 48
cockayne syndrome type b 42 22
cockayne syndrome 48 60
cerebrooculofacioskeletal syndrome 1 46
cerebrooculofacioskeletal syndrome 48
pena shokeir syndrome type 2 60
pena-shokeir syndrome type 2 48
cockayne syndrome, type iii 60
cockayne syndrome, type b 46
cockayne syndrome type 3 48
cockayne syndrome type 1 48
cofs syndrome 1 42
cofs syndrome 48
cofs 1 42


External Ids:

MESH via Orphanet35 D003057
ICD10 via Orphanet26 Q87.1, Q87.8
SNOMED-CT via Orphanet57 21086008, 41283003
UMLS via Orphanet61 C0009207, C0751038, C0751039 C0751037, more

Related Diseases for Cockayne Syndrome Type Ii

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Sources:
17GeneCards, 18GeneDecks
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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 63)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.2ERCC2, ERCC4, ERCC1, ERCC8, ERCC5, ERCC6
2cockayne syndrome30.4ERCC6, ERCC2, ERCC5, ERCC8, ERCC1, ERCC4
3fanconi's anemia29.9ERCC2, ERCC4
4lung cancer29.9ERCC6, ERCC2, ERCC1
5adult syndrome10.3
6progeria10.2
7neuropathy10.2
8cerebro-oculo-facio-skeletal syndrome10.2
9cockayne syndrome type i10.2
10cockayne syndrome type iii10.2
11cerebritis10.1
12hypertension10.1
13ischemia10.1
14peripheral neuropathy10.1
15epidermolysis bullosa simplex, localized10.1
16ercc8-related cockayne syndrome10.1
17ercc6-related cockayne syndrome10.1
18xeroderma pigmentosum, group g/cockayne syndrome10.1
19xeroderma pigmentosum, group f10.1
20xeroderma pigmentosum, type f/cockayne syndrome10.1
21cerebrooculofacioskeletal syndrome 410.1
22cerebrooculofacioskeletal syndrome 210.1
23micro syndrome10.1
24ataxia telangiectasia10.0
25fanconi syndrome10.0
26neuronitis10.0
27pellagra10.0
28tetralogy of fallot10.0
29down syndrome10.0
30n syndrome10.0
31b cell deficiency10.0
32cataract10.0
33cerebellar ataxia10.0
34cholestasis10.0
35complement deficiency10.0
36herpes simplex10.0
37lipodystrophy10.0
38lupus erythematosus10.0
39nephrotic syndrome10.0
40renal hypertension10.0
41retinal degeneration10.0
42retinitis10.0
43thrombocytopenia10.0
44transient cerebral ischemia10.0
45neurologic diseases10.0
46image syndrome10.0
47cataract-microcephaly-failure to thrive-kyphoscoliosis10.0
48xeroderma pigmentosum, group b10.0
49uv-sensitive syndrome 210.0
50xeroderma pigmentosum, group g10.0

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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

133540

Symptoms:

48 (show all 79)
  • cataract/lens opacification
  • long/large/bulbous nose
  • broad nasal root
  • thin/retracted lips
  • protruding lips
  • arthrogryposis
  • camptodactyly of fingers
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • prominent metopic suture
  • 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
  • microcephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intracranial/cerebral calcifications
  • hypotonia
  • areflexia/hyporeflexia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • intrauterine growth retardation
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • talipes-varus/metatarsal varus
  • peripheral neuropathy
  • late puberty/hypogonadism/hypogenitalism
  • skin photosensitivity
  • short neck
  • hypertonia/spasticity/rigidity/stiffness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • central deafness/hearing loss
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • death in infancy
  • visual loss/blindness/amblyopia
  • restricted joint mobility/joint stiffness/ankylosis
  • premature ageing
  • dental malocclusion
  • retinal/chorioretinal dysplasia/dystrophy
  • strabismus/squint
  • hearing loss/hypoacusia/deafness
  • kyphosis
  • long limbs/dolichostenomelia
  • large hand
  • hypereflexia
  • deepset eyes/enophthalmos
  • retinopathy
  • anomalies of nose and olfaction
  • multiple caries
  • long/large ear
  • sensorineural deafness/hearing loss
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • ataxia/incoordination/trouble of the equilibrium
  • foot anomalies
  • skin hypoplasia/aplasia/atrophy
  • early death/lethality
  • 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
  • tremor
  • movement disorder
  • 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
  • nerve conduction abnormality
  • eeg anomalies
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality

Drugs & Therapeutics for Cockayne Syndrome Type Ii

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Cockayne Syndrome Type Ii

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Cockayne Syndrome Type Ii:

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

Animal Models for Cockayne Syndrome Type Ii or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cockayne Syndrome Type Ii:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5ERCC5, ERCC4
2MP:00053758.8ERCC2, ERCC1, ERCC6
3MP:00107717.8ERCC6, ERCC1, ERCC8, ERCC5, ERCC2
4MP:00053977.8ERCC6, ERCC1, ERCC8, ERCC5, ERCC2
5MP:00053877.6ERCC6, ERCC1, ERCC8, ERCC5, ERCC2
6MP:00053847.5ERCC6, ERCC4, ERCC1, ERCC8, ERCC2
7MP:00053767.3ERCC6, ERCC1, ERCC8, ERCC5, ERCC2
8MP:00053787.3ERCC2, ERCC5, ERCC8, ERCC1, ERCC4, ERCC6
9MP:00107687.3ERCC6, ERCC4, ERCC1, ERCC8, ERCC5, ERCC2

Publications for Cockayne Syndrome Type Ii

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Genetic Variations for Cockayne Syndrome Type Ii

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cockayne Syndrome Type Ii:

62
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

Expression for genes affiliated with Cockayne Syndrome Type Ii

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
49PharmGKB, 29KEGG, 51QIAGEN, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Cockayne Syndrome Type Ii

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience
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Compounds related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1thymine glycol449.8ERCC6, ERCC5
2ecteinascidin 743449.8ERCC5, ERCC2
3platinum compounds499.4ERCC2, ERCC1
4psoralen449.4ERCC4, ERCC1
5vinorelbine44 1110.4ERCC1, ERCC2
6bcnu449.3ERCC2, ERCC1
7platinum44 4910.3ERCC2, ERCC1
8oxaliplatin44 49 1111.3ERCC1, ERCC2
9irinotecan44 49 1111.2ERCC2, ERCC1
10vincristine44 49 1111.2ERCC2, ERCC1
11gemcitabine44 49 1111.1ERCC2, ERCC1
12melphalan44 1110.0ERCC2, ERCC1, ERCC4
13thymidylate448.9ERCC2, ERCC1, ERCC4
14cyclophosphamide44 49 1110.9ERCC4, ERCC1, ERCC2
155fluorouracil448.9ERCC2, ERCC1, ERCC4
16mitomycin c448.8ERCC1, ERCC4
17cisplatin44 49 59 1111.5ERCC2, ERCC5, ERCC1, ERCC4

GO Terms for genes affiliated with Cockayne Syndrome Type Ii

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16Gene Ontology
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Cellular components related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.5ERCC5, ERCC2
2nuclear chromosome, telomeric regionGO:0007849.0ERCC1, ERCC4
3transcription factor TFIID complexGO:0056698.8ERCC1, ERCC4
4nucleotide-excision repair complexGO:0001098.6ERCC8, ERCC1, ERCC4
5nucleoplasmGO:0056547.2ERCC6, ERCC4, ERCC1, ERCC8, ERCC5, ERCC2
6nucleusGO:0056347.1ERCC4, ERCC1, ERCC8, ERCC5, ERCC2, 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:0352648.8ERCC2, ERCC1, ERCC6
6response to X-rayGO:0101658.7ERCC8, ERCC1, ERCC6
7negative regulation of apoptotic processGO:0430668.7ERCC2, ERCC5, ERCC1
8response to UVGO:0094118.6ERCC5, ERCC8, ERCC4, ERCC6
9UV protectionGO:0096508.4ERCC4, ERCC1, ERCC5, ERCC2
10nucleotide-excision repair, DNA damage removalGO:0007188.4ERCC2, ERCC5, ERCC1, ERCC4
11response to oxidative stressGO:0069798.3ERCC6, ERCC1, ERCC8, ERCC2
12transcription-coupled nucleotide-excision repairGO:0062837.4ERCC2, ERCC5, ERCC8, ERCC1, ERCC4, ERCC6
13nucleotide-excision repairGO:0062897.4ERCC6, ERCC4, ERCC1, ERCC8, ERCC5, ERCC2
14DNA repairGO:0062817.4ERCC6, ERCC4, ERCC1, ERCC8, ERCC5, ERCC2

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

Products for genes affiliated with Cockayne Syndrome Type Ii

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Sources for Cockayne Syndrome Type Ii

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet