COFS1
MCID: CRB101
MIFTS: 50

Cerebrooculofacioskeletal Syndrome 1 (COFS1)

Categories: Bone diseases, Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 1

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 1:

Name: Cerebrooculofacioskeletal Syndrome 1 58 13
Cofs Syndrome 58 77 76 56
Cofs1 58 76
Cerebro-Oculo-Facio-Skeletal Syndrome 1 76
Pena-Shokeir Syndrome, Type Ii 58
Pena-Shokeir Syndrome Type 2 76
Pena Shokeir Syndrome Type 2 74
Cofs Syndrome; Cofs 58
Microcephaly 45
Cofs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood


HPO:

33
cerebrooculofacioskeletal syndrome 1:
Clinical modifier death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 1

UniProtKB/Swiss-Prot : 76 Cerebro-oculo-facio-skeletal syndrome 1: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 1, also known as cofs syndrome, is related to cerebro-oculo-facio-skeletal syndrome and cockayne syndrome. An important gene associated with Cerebrooculofacioskeletal Syndrome 1 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include brain, eye and heart, and related phenotypes are muscular hypotonia and cerebral calcification

OMIM : 58 Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). (214150)

Wikipedia : 77 Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive... more...

Related Diseases for Cerebrooculofacioskeletal Syndrome 1

Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4
Cerebrooculofacioskeletal Syndrome 3

Diseases related to Cerebrooculofacioskeletal Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 938)
# Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 32.2 ERCC2 ERCC5 ERCC6
2 cockayne syndrome 30.8 ERCC2 ERCC5 ERCC6
3 xeroderma pigmentosum, complementation group f 30.4 ERCC2 ERCC5
4 microcephaly 12.7
5 microcephaly, amish type 12.5
6 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.5
7 microcephaly 1, primary, autosomal recessive 12.4
8 microcephaly, autosomal dominant 12.4
9 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 12.4
10 microcephaly-capillary malformation syndrome 12.4
11 primary autosomal recessive microcephaly 12.4
12 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.4
13 microcephaly, seizures, and developmental delay 12.3
14 microcephaly 4, primary, autosomal recessive 12.3
15 microcephaly 5, primary, autosomal recessive 12.3
16 microcephaly 9, primary, autosomal recessive 12.3
17 achalasia-microcephaly syndrome 12.3
18 microcephaly 10, primary, autosomal recessive 12.3
19 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.3
20 primary microcephaly 12.3
21 microcephaly 6, primary, autosomal recessive 12.3
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 12.3
23 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.3
24 microcephaly 3, primary, autosomal recessive 12.3
25 microcephaly, epilepsy, and diabetes syndrome 12.3
26 microcephaly 7, primary, autosomal recessive 12.3
27 microcephaly 8, primary, autosomal recessive 12.3
28 microcephaly 11, primary, autosomal recessive 12.3
29 microcephaly 12, primary, autosomal recessive 12.3
30 microcephaly 17, primary, autosomal recessive 12.3
31 microcephaly and chorioretinopathy, autosomal recessive, 1 12.3
32 seizures, cortical blindness, and microcephaly syndrome 12.3
33 microcephaly and chorioretinopathy, autosomal recessive, 2 12.3
34 microcephaly 15, primary, autosomal recessive 12.3
35 microcephaly 14, primary, autosomal recessive 12.3
36 microcephaly, short stature, and impaired glucose metabolism 1 12.3
37 microcephaly-micromelia syndrome 12.3
38 short stature with microcephaly and distinctive facies 12.2
39 short stature, microcephaly, and endocrine dysfunction 12.2
40 microcephaly, short stature, and limb abnormalities 12.2
41 microcephaly-cardiomyopathy 12.2
42 microcephaly 19, primary, autosomal recessive 12.2
43 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 12.2
44 microcephaly and chorioretinopathy, autosomal recessive, 3 12.2
45 microcephaly, congenital cataract, and psoriasiform dermatitis 12.2
46 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.2
47 microcephaly, short stature, and polymicrogyria with or without seizures 12.2
48 microcephaly with cervical spine fusion anomalies 12.2
49 microcephaly, postnatal progressive, with seizures and brain atrophy 12.2
50 microcephaly, short stature, and impaired glucose metabolism 2 12.2

Graphical network of the top 20 diseases related to Cerebrooculofacioskeletal Syndrome 1:



Diseases related to Cerebrooculofacioskeletal Syndrome 1

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 1

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 1:

33 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 hallmark (90%) HP:0001252
2 cerebral calcification 33 hallmark (90%) HP:0002514
3 cataract 33 hallmark (90%) HP:0000518
4 wide nasal bridge 33 hallmark (90%) HP:0000431
5 joint stiffness 33 hallmark (90%) HP:0001387
6 microcephaly 33 hallmark (90%) HP:0000252
7 short stature 33 hallmark (90%) HP:0004322
8 hypertonia 33 hallmark (90%) HP:0001276
9 feeding difficulties in infancy 33 hallmark (90%) HP:0008872
10 micrognathia 33 hallmark (90%) HP:0000347
11 severe global developmental delay 33 hallmark (90%) HP:0011344
12 everted lower lip vermilion 33 hallmark (90%) HP:0000232
13 abnormal nasal morphology 33 hallmark (90%) HP:0005105
14 cerebral cortical atrophy 33 hallmark (90%) HP:0002120
15 arthrogryposis multiplex congenita 33 hallmark (90%) HP:0002804
16 aplasia/hypoplasia of the cerebellum 33 hallmark (90%) HP:0007360
17 microphthalmia 33 hallmark (90%) HP:0000568
18 camptodactyly of finger 33 hallmark (90%) HP:0100490
19 prominent metopic ridge 33 hallmark (90%) HP:0005487
20 short neck 33 frequent (33%) HP:0000470
21 seizures 33 frequent (33%) HP:0001250
22 sensorineural hearing impairment 33 frequent (33%) HP:0000407
23 visual impairment 33 frequent (33%) HP:0000505
24 intrauterine growth retardation 33 frequent (33%) HP:0001511
25 abnormality of immune system physiology 33 frequent (33%) HP:0010978
26 reduced tendon reflexes 33 frequent (33%) HP:0001315
27 hypogonadism 33 frequent (33%) HP:0000135
28 cutaneous photosensitivity 33 frequent (33%) HP:0000992
29 optic atrophy 33 occasional (7.5%) HP:0000648
30 abnormality of retinal pigmentation 33 occasional (7.5%) HP:0007703
31 peripheral neuropathy 33 occasional (7.5%) HP:0009830
32 talipes 33 occasional (7.5%) HP:0001883
33 agenesis of corpus callosum 33 HP:0001274
34 nystagmus 33 HP:0000639
35 intellectual disability 33 HP:0001249
36 failure to thrive 33 HP:0001508
37 osteoporosis 33 HP:0000939
38 long philtrum 33 HP:0000343
39 coxa valga 33 HP:0002673
40 wide intermamillary distance 33 HP:0006610
41 elbow flexion contracture 33 HP:0002987
42 kyphoscoliosis 33 HP:0002751
43 prominent nasal bridge 33 HP:0000426
44 cerebellar hypoplasia 33 HP:0001321
45 deeply set eye 33 HP:0000490
46 intellectual disability, profound 33 HP:0002187
47 blepharophimosis 33 HP:0000581
48 thin vermilion border 33 HP:0000233
49 sloping forehead 33 HP:0000340
50 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
agenesis of corpus callosum
cerebellar hypoplasia
delayed myelination
hypotonia
mental retardation, profound
more
Growth Weight:
failure to thrive
normal or decreased birth weight

Skeletal:
osteoporosis
arthrogryposis

Skeletal Pelvis:
coxa valga
shallow acetabular angle

Skeletal Spine:
kyphoscoliosis

Skin Nails Hair Hair:
hirsutism

Head And Neck Ears:
sensorineural hearing loss
large ear pinnae

Head And Neck Mouth:
thin lips
upper lip overlaps lower lip

Laboratory Abnormalities:
fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

Head And Neck Eyes:
nystagmus
microphthalmia
blepharophimosis
cataracts
deep-set eyes

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
micrognathia
sloping forehead

Skeletal Limbs:
elbow flexion contracture
knee flexion contracture

Skeletal Hands:
camptodactyly

Chest Breasts:
widely spaced nipples

Skeletal Feet:
rocker-bottom feet
vertical talus
longitudinal groove on soles
second metatarsal posteriorly placed

Head And Neck Nose:
prominent nasal root

Clinical features from OMIM:

214150

GenomeRNAi Phenotypes related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

27 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10 ERCC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10 ERCC6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10 ERCC6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10 ERCC6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10 ERCC2 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10 ERCC6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10 ERCC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10 ERCC2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10 ERCC6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10 ERCC2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10 ERCC2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10 ERCC2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10 ERCC6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10 ERCC2
22 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 ERCC2 ERCC5 ERCC6

MGI Mouse Phenotypes related to Cerebrooculofacioskeletal Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 ERCC2 ERCC5 ERCC6

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acute Effects of Coffee Beverage on Postprandial Inflammation and Oxidative Stress - A Pilot Study Active, not recruiting NCT02174640 Not Applicable

Search NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 1

Cochrane evidence based reviews: microcephaly

Genetic Tests for Cerebrooculofacioskeletal Syndrome 1

Anatomical Context for Cerebrooculofacioskeletal Syndrome 1

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 1:

42
Brain, Eye, Heart, Bone, Lung, Skin, Bone Marrow

Publications for Cerebrooculofacioskeletal Syndrome 1

Articles related to Cerebrooculofacioskeletal Syndrome 1:

(show all 13)
# Title Authors Year
1
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. ( 20456449 )
2010
2
MICRO syndrome: an entity distinct from COFS syndrome. ( 15216543 )
2004
3
Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. ( 15630331 )
2004
4
Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. ( 11084975 )
2000
5
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. ( 9329459 )
1997
6
COFS syndrome with familial 1;16 translocation. ( 9001808 )
1996
7
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? ( 1741976 )
1991
8
Infantile spasms in COFS syndrome. ( 1930425 )
1991
9
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. ( 7063265 )
1982
10
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. ( 7153815 )
1982
11
COFS syndrome revisited. ( 728562 )
1978
12
Further evidence for the autosomal-recessive inheritance of the COFS syndrome. ( 825334 )
1976
13
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. ( 4211825 )
1974

Variations for Cerebrooculofacioskeletal Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cerebrooculofacioskeletal Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Leu871Pro VAR_063514
2 ERCC6 p.Leu987Pro VAR_063515 rs121917905

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 1:

6 (show top 50) (show all 195)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
2 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
3 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
4 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
5 ERCC6 ERCC6, 2-BP DEL, 3794AA deletion Pathogenic
6 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh37 Chromosome 10, 50690855: 50690855
7 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh38 Chromosome 10, 49482809: 49482809
8 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh37 Chromosome 10, 50679131: 50679131
9 ERCC6 NM_000124.3(ERCC6): c.2960T> C (p.Leu987Pro) single nucleotide variant Pathogenic rs121917905 GRCh38 Chromosome 10, 49471085: 49471085
10 ERCC6 ERCC6, 2254A-G single nucleotide variant Pathogenic
11 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
12 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh38 Chromosome 19, 45352802: 45352802
13 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519
14 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
15 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh37 Chromosome 10, 50732195: 50732195
16 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh38 Chromosome 10, 49524149: 49524149
17 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 NCBI36 Chromosome 10, 50402201: 50402201
18 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh37 Chromosome 19, 45856019: 45856019
19 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh38 Chromosome 19, 45352761: 45352761
20 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
21 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
22 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
23 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
24 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
25 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
26 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
27 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
28 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
29 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
30 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
31 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
32 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
33 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
34 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
35 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
36 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
37 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
38 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
39 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
40 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
41 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
42 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh38 Chromosome 10, 49483503: 49483503
43 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh37 Chromosome 10, 50691549: 50691549
44 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
45 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
46 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh37 Chromosome 10, 50713929: 50713929
47 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh38 Chromosome 10, 49505883: 49505883
48 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh37 Chromosome 10, 50667277: 50667277
49 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh38 Chromosome 10, 49459231: 49459231
50 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh38 Chromosome 10, 49474074: 49474074

Expression for Cerebrooculofacioskeletal Syndrome 1

Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 1.

Pathways for Cerebrooculofacioskeletal Syndrome 1

Pathways related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 ERCC2 ERCC5 ERCC6
2
Show member pathways
12.17 ERCC2 ERCC5 ERCC6
3
Show member pathways
11.94 ERCC2 ERCC5 ERCC6
4
Show member pathways
11.37 ERCC2 ERCC6
5
Show member pathways
10.86 ERCC2 ERCC5 ERCC6
6 10.42 ERCC2 ERCC6

GO Terms for Cerebrooculofacioskeletal Syndrome 1

Biological processes related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.63 ERCC2 ERCC5 ERCC6
2 response to oxidative stress GO:0006979 9.52 ERCC2 ERCC6
3 multicellular organism growth GO:0035264 9.51 ERCC2 ERCC6
4 DNA repair GO:0006281 9.5 ERCC2 ERCC5 ERCC6
5 DNA duplex unwinding GO:0032508 9.49 ERCC2 ERCC6
6 nucleotide-excision repair GO:0006289 9.48 ERCC2 ERCC5
7 nucleotide-excision repair, DNA incision GO:0033683 9.43 ERCC2 ERCC5
8 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.4 ERCC2 ERCC5
9 nucleotide-excision repair, preincision complex assembly GO:0006294 9.37 ERCC2 ERCC5
10 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.26 ERCC2 ERCC5
11 UV protection GO:0009650 9.16 ERCC2 ERCC5
12 transcription-coupled nucleotide-excision repair GO:0006283 9.13 ERCC2 ERCC5 ERCC6
13 response to UV GO:0009411 8.8 ERCC2 ERCC5 ERCC6

Molecular functions related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.58 ERCC2 ERCC5 ERCC6
2 hydrolase activity GO:0016787 9.5 ERCC2 ERCC5 ERCC6
3 protein-containing complex binding GO:0044877 9.37 ERCC5 ERCC6
4 protein C-terminus binding GO:0008022 9.26 ERCC2 ERCC6
5 helicase activity GO:0004386 9.16 ERCC2 ERCC6
6 DNA-dependent ATPase activity GO:0008094 8.96 ERCC2 ERCC6
7 protein N-terminus binding GO:0047485 8.8 ERCC2 ERCC5 ERCC6

Sources for Cerebrooculofacioskeletal Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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