MCID: CCK003
MIFTS: 68

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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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 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-complementation group 6), and among its related pathways are Cyclophosphamide Pathway, Pharmacodynamics and Fanconi anemia pathway. The compounds thymine glycol and psoralen have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are adipose tissue and liver/biliary system.

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

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49Orphanet, 62UMLS, 43NIH Rare Diseases, 44NINDS, 20GeneTests, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

cockayne syndrome type ii 43 44
cerebrooculofacio-skeletal syndrome 1 43 20
pena-shokeir syndrome type 2 43 49
pena shokeir syndrome type 2 43 62
cockayne syndrome type 2 43 49
cockayne syndrome type b 43 22
cockayne syndrome 49 62
cerebrooculofacioskeletal syndrome 1 47
cerebrooculofacioskeletal syndrome 49
cockayne syndrome, type iii 62
cockayne syndrome, type b 47
cockayne syndrome type 3 49
pena shokeir ii syndrome 44
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 Orphanet59 21086008, 41283003
UMLS via Orphanet63 C0009207, C0220722, C1859312 C2931277, C0751038, C0751039, C0751037, more

Related Diseases for Cockayne Syndrome Type Ii

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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 65)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.0ERCC5, ERCC1, ERCC8, ERCC4, ERCC2, ERCC6
2cockayne syndrome30.2ERCC5, ERCC4, ERCC8, ERCC1, ERCC6, ERCC2
3lung cancer30.0ERCC1, ERCC2
4fanconi's anemia30.0ERCC2, ERCC4
5cockayne syndrome type i10.7
6cockayne syndrome type iii10.6
7xeroderma pigmentosum, group g10.4
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
15cerebritis10.2
16hypertension10.2
17ischemia10.2
18peripheral neuropathy10.2
19epidermolysis bullosa simplex, localized10.2
20ercc8-related cockayne syndrome10.2
21ercc6-related cockayne syndrome10.2
22ataxia10.2
23xeroderma pigmentosum, group c10.2
24xeroderma pigmentosum, group f10.2
25xeroderma pigmentosum, type f/cockayne syndrome10.2
26cerebrooculofacioskeletal syndrome 410.2
27cerebrooculofacioskeletal syndrome 210.2
28micro syndrome10.1
29uv-sensitive syndrome 110.1ERCC6
30generalized dystonia10.0
31pellagra10.0
32tetralogy of fallot10.0
33ataxia telangiectasia10.0
34down syndrome10.0
35cataract10.0
36cholestasis10.0
37dystonia10.0
38herpes simplex10.0
39lipodystrophy10.0
40lupus erythematosus10.0
41nephrotic syndrome10.0
42retinal degeneration10.0
43retinitis10.0
44thrombocytopenia10.0
45transient cerebral ischemia10.0
46neurologic diseases10.0
47cataract-microcephaly-failure to thrive-kyphoscoliosis10.0
48growth hormone deficiency10.0
49radiation induced cancer10.0
50robinow syndrome10.0

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

133540

Clinical features from OMIM:

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

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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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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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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33MalaCards
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MalaCards organs/tissues related to Cockayne Syndrome Type Ii:

33
Eye, Brain, Skin, Bone, Spinal cord, Testes, Cerebellum, Kidney, Breast

Animal Models for Cockayne Syndrome Type Ii or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cockayne Syndrome Type Ii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8ERCC2, ERCC1, ERCC6
2MP:00053708.5ERCC4, ERCC1, ERCC6, ERCC5
3MP:00020068.4ERCC2, ERCC8, ERCC6, ERCC1
4MP:00107717.9ERCC8, ERCC5, ERCC6, ERCC1, ERCC2
5MP:00053977.9ERCC1, ERCC5, ERCC8, ERCC2, ERCC6
6MP:00053877.7ERCC5, ERCC2, ERCC6, ERCC1, ERCC8
7MP:00053847.5ERCC2, ERCC6, ERCC8, ERCC1, ERCC4
8MP:00053767.4ERCC5, ERCC1, ERCC6, ERCC2, ERCC8
9MP:00053787.3ERCC1, ERCC8, ERCC4, ERCC2, ERCC5, ERCC6
10MP:00107687.3ERCC2, ERCC4, ERCC8, ERCC1, ERCC5, ERCC6

Publications for Cockayne Syndrome Type Ii

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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000124.3(ERCC6): c.543+4delAdeletionPathogenicGRCh37Chr 10, 50738762: 50738762
2ERCC2NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp)single nucleotide variantPathogenicrs121913024GRCh37Chr 19, 45856060: 45856060
3ERCC6NM_000124.3(ERCC6): c.1550G> A (p.Trp517Ter)single nucleotide variantPathogenicrs121917900GRCh37Chr 10, 50708719: 50708719
4ERCC6NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter)single nucleotide variantPathogenicrs121917901GRCh37Chr 10, 50686483: 50686483
5ERCC6ERCC6, 1-BP DEL, 1597GdeletionPathogenic
6NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter)single nucleotide variantPathogenicrs121917902GRCh37Chr 10, 50732119: 50732119
7NM_000124.3(ERCC6): c.972dupA (p.Glu325Argfs)duplicationPathogenicrs387906262GRCh37Chr 10, 50732503: 50732504
8ERCC6ERCC6, 4-BP INS, 1053TGTCinsertionPathogenic
9ERCC6ERCC6, 2-BP DEL, 3794AAdeletionPathogenic
10ERCC6NM_000124.3(ERCC6): c.3284C> G (p.Pro1095Arg)single nucleotide variantPathogenicrs4253208GRCh37Chr 10, 50678722: 50678722
11ERCC6ERCC6, 1-BP INS, 1034TinsertionPathogenic
12ERCC6NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter)single nucleotide variantPathogenicrs121917904GRCh37Chr 10, 50690855: 50690855
13ERCC6NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro)single nucleotide variantPathogenicrs121917905GRCh37Chr 10, 50679131: 50679131
14ERCC6ERCC6, 2254A-Gsingle nucleotide variantPathogenic
15ERCC6NM_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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2BioGPS, 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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50PathCards, 51PharmGKB, 30KEGG, 55Reactome, 53QIAGEN
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Compounds for genes affiliated with Cockayne Syndrome Type Ii

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Cockayne Syndrome Type Ii according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1thymine glycol459.8ERCC6, ERCC5
2psoralen459.7ERCC1, ERCC4
3platinum compounds519.5ERCC1, ERCC2
4vinorelbine45 51 1111.4ERCC1, ERCC2
5ecteinascidin 743459.4ERCC5, ERCC2
6bcnu459.4ERCC1, ERCC2
7fluorouracil51 1110.4ERCC2, ERCC1
8mitomycin c459.4ERCC1, ERCC4
9leucovorin45 51 1111.4ERCC1, ERCC2
10oxaliplatin45 51 1111.3ERCC1, ERCC2
11irinotecan45 51 1111.3ERCC2, ERCC1
12gemcitabine45 51 1111.3ERCC1, ERCC2
13methotrexate51 45 1111.2ERCC1, ERCC2
14vincristine45 51 1111.1ERCC2, ERCC1
15platinum45 5110.0ERCC1, ERCC2, ERCC5
16melphalan45 51 1110.9ERCC2, ERCC4, ERCC1
17docetaxel45 51 61 1111.9ERCC1, ERCC2
18thymidylate458.9ERCC2, ERCC4, ERCC1
19cyclophosphamide45 51 1110.8ERCC1, ERCC4, ERCC2
205fluorouracil458.8ERCC2, ERCC4, ERCC1
21cisplatin45 51 61 1111.4ERCC1, ERCC4, ERCC2, ERCC5

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
1transcription factor TFIID complexGO:0056699.4ERCC1, ERCC4
2nuclear chromosome, telomeric regionGO:0007849.3ERCC4, ERCC1
3holo TFIIH complexGO:0056759.1ERCC2, ERCC5
4nucleotide-excision repair complexGO:0001099.0ERCC1, ERCC8, ERCC4
5nucleoplasmGO:0056547.2ERCC1, ERCC8, ERCC4, ERCC2, ERCC5, ERCC6
6nucleusGO:0056346.8ERCC2, ERCC6, ERCC1, ERCC8, ERCC4, ERCC5

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA incision, 5-to lesionGO:0062969.4ERCC1, ERCC4
2ATP catabolic processGO:0062009.2ERCC2, ERCC6
3response to X-rayGO:0101659.2ERCC6, ERCC1, ERCC8
4negative regulation of telomere maintenanceGO:0322059.1ERCC4, ERCC1
5nucleotide-excision repair, DNA incision, 3-to lesionGO:0062959.1ERCC5, ERCC4, ERCC1
6DNA catabolic process, endonucleolyticGO:0007379.0ERCC5, ERCC4, ERCC1
7nucleotide-excision repair, DNA incisionGO:0336838.9ERCC2, ERCC4
8multicellular organism growthGO:0352648.9ERCC2, ERCC6, ERCC1
9response to UVGO:0094118.6ERCC5, ERCC4, ERCC8, ERCC6
10response to oxidative stressGO:0069798.4ERCC1, ERCC8, ERCC2, ERCC6
11UV protectionGO:0096508.3ERCC2, ERCC4, ERCC1, ERCC5
12nucleotide-excision repair, DNA damage removalGO:0007188.3ERCC2, ERCC4, ERCC5, ERCC1
13transcription-coupled nucleotide-excision repairGO:0062837.4ERCC5, ERCC8, ERCC4, ERCC2, ERCC6, ERCC1
14nucleotide-excision repairGO:0062897.4ERCC6, ERCC1, ERCC8, ERCC4, ERCC2, ERCC5
15DNA repairGO:0062817.4ERCC4, ERCC5, ERCC2, ERCC8, ERCC1, ERCC6

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:0010949.6ERCC4, ERCC1
2DNA helicase activityGO:0036789.5ERCC6, ERCC8
3single-stranded DNA endodeoxyribonuclease activityGO:0000149.5ERCC1, ERCC4
4protein complex bindingGO:0324039.5ERCC6, ERCC8
5structure-specific DNA bindingGO:0435669.5ERCC4, ERCC1
6endodeoxyribonuclease activityGO:0045209.4ERCC5, ERCC4
7damaged DNA bindingGO:0036849.1ERCC4, ERCC1
8single-stranded DNA bindingGO:0036979.1ERCC5, ERCC4, ERCC1
9DNA-dependent ATPase activityGO:0080948.9ERCC8, ERCC6, ERCC2
10protein C-terminus bindingGO:0080228.4ERCC4, ERCC1, ERCC6, ERCC2
11protein N-terminus bindingGO:0474858.4ERCC5, ERCC2, ERCC4, ERCC6
12protein bindingGO:0055157.0ERCC4, ERCC2, ERCC6, ERCC1, ERCC8, ERCC5

Products for genes affiliated with Cockayne Syndrome Type Ii

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Sources for Cockayne Syndrome Type Ii

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet