COFS1
MCID: CRB101
MIFTS: 53

Cerebrooculofacioskeletal Syndrome 1 (COFS1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 1

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 1:

Name: Cerebrooculofacioskeletal Syndrome 1 57 29 13 6
Cofs Syndrome 57 73 58 72 54 6
Cerebrooculofacioskeletal Syndrome 58 39
Pena-Shokeir Syndrome Type 2 58 72
Cofs1 57 72
Cerebro-Oculo-Facio-Skeletal Syndrome 1 72
Pena-Shokeir Syndrome, Type Ii 57
Pena Shokeir Syndrome Type 2 70
Pena Shokeir Ii Syndrome 53
Cofs Syndrome; Cofs 57
Cofs 57

Characteristics:

Orphanet epidemiological data:

58
cofs syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
death in childhood

Inheritance:
autosomal recessive


HPO:

31
cerebrooculofacioskeletal syndrome 1:
Onset and clinical course death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cerebrooculofacioskeletal Syndrome 1

NINDS : 53 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 impaired cognitive development, 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. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal 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 eye, spinal cord and cerebellum, and related phenotypes are cerebral calcification and cataract

OMIM® : 57 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 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 57)
# Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 31.2 ERCC6 ERCC5 ERCC2 ERCC1
2 cockayne syndrome 30.1 PGBD3 ERCC6 ERCC5 ERCC2 ERCC1
3 cockayne syndrome b 29.5 PGBD3 ERCC6 ERCC1
4 microcephaly 29.1 ERCC6 ERCC5 ERCC2 ERCC1
5 xeroderma pigmentosum, variant type 28.6 ERCC6 ERCC5 ERCC2 ERCC1
6 cerebrooculofacioskeletal syndrome 2 11.2
7 cerebrooculofacioskeletal syndrome 4 11.2
8 restrictive dermopathy, lethal 11.0
9 congenital intrauterine infection-like syndrome 11.0
10 cerebrooculofacioskeletal syndrome 3 11.0
11 posterior polar cataract 10.2
12 cataract 10.2
13 congenital amyoplasia 10.2
14 autosomal recessive disease 10.1
15 microphthalmia 10.1
16 macular degeneration, age-related, 5 10.0 PGBD3 ERCC6
17 uv-sensitive syndrome 1 10.0 PGBD3 ERCC6
18 premature ovarian failure 11 10.0 PGBD3 ERCC6
19 de sanctis-cacchione syndrome 10.0 PGBD3 ERCC6
20 photoparoxysmal response 1 10.0 ERCC6 ERCC1
21 xeroderma pigmentosum, complementation group c 10.0 ERCC6 ERCC1
22 trichothiodystrophy 3, photosensitive 9.9 ERCC6 ERCC2
23 3-methylglutaconic aciduria, type iii 9.9
24 warburg micro syndrome 1 9.9
25 yemenite deaf-blind hypopigmentation syndrome 9.9
26 chromosome 1p36 deletion syndrome 9.9
27 warburg micro syndrome 3 9.9
28 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
29 west syndrome 9.9
30 cortical blindness 9.9
31 pathologic nystagmus 9.9
32 polymicrogyria 9.9
33 rab18 deficiency 9.9
34 robinow syndrome, autosomal recessive 1 9.9 ERCC6 ERCC1
35 gastroesophageal adenocarcinoma 9.9 ERCC2 ERCC1
36 trichothiodystrophy 1, photosensitive 9.9 ERCC6 ERCC2
37 diffuse gastric cancer 9.9 ERCC2 ERCC1
38 cleft palate, isolated 9.8
39 cerebellar hypoplasia 9.8
40 cystic lymphangioma 9.8
41 hutchinson-gilford progeria syndrome 9.8 ERCC6 ERCC1
42 xeroderma pigmentosum-cockayne syndrome complex 9.8 ERCC5 ERCC2
43 acoustic neuroma 9.7 ERCC5 ERCC2
44 xeroderma pigmentosum, complementation group a 9.7 ERCC6 ERCC2 ERCC1
45 female breast cancer 9.7 ERCC5 ERCC2
46 multiple pterygium syndrome, escobar variant 9.6 ERCC6 ERCC5
47 xfe progeroid syndrome 9.6 ERCC6 ERCC5 ERCC1
48 cockayne syndrome a 9.6 ERCC6 ERCC5 ERCC1
49 fanconi anemia, complementation group a 9.5 ERCC6 ERCC2 ERCC1
50 xeroderma pigmentosum, complementation group f 9.3 ERCC6 ERCC5 ERCC2 ERCC1

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:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
8 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
9 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
12 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
13 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
14 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
15 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
16 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
17 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
18 hypotonia 31 hallmark (90%) HP:0001252
19 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
20 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
21 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
22 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
23 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
24 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
25 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
26 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
27 seizure 31 frequent (33%) HP:0001250
28 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
29 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
30 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
31 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
32 intellectual disability 31 HP:0001249
33 seizures 58 Frequent (79-30%)
34 agenesis of corpus callosum 31 HP:0001274
35 failure to thrive 31 HP:0001508
36 nystagmus 31 HP:0000639
37 muscular hypotonia 58 Very frequent (99-80%)
38 abnormal nasal morphology 58 Very frequent (99-80%)
39 osteoporosis 31 HP:0000939
40 wide intermamillary distance 31 HP:0006610
41 elbow flexion contracture 31 HP:0002987
42 kyphoscoliosis 31 HP:0002751
43 long philtrum 31 HP:0000343
44 deeply set eye 31 HP:0000490
45 death in infancy 58 Very frequent (99-80%)
46 prominent nasal bridge 31 HP:0000426
47 blepharophimosis 31 HP:0000581
48 thin vermilion border 31 HP:0000233
49 coxa valga 31 HP:0002673
50 cerebellar hypoplasia 31 HP:0001321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
cerebellar hypoplasia
delayed myelination
hypotonia
mental retardation, profound
more
Head And Neck Eyes:
nystagmus
microphthalmia
blepharophimosis
cataracts
deep-set eyes

Skeletal:
osteoporosis
arthrogryposis

Skeletal Limbs:
elbow flexion contracture
knee flexion contracture

Skeletal Pelvis:
coxa valga
shallow acetabular angle

Skeletal Hands:
camptodactyly

Chest Breasts:
widely spaced nipples

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)

Growth Weight:
failure to thrive
normal or decreased birth weight

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
long philtrum
sloping forehead

Skeletal Spine:
kyphoscoliosis

Skin Nails Hair Hair:
hirsutism

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

Head And Neck Ears:
sensorineural hearing loss
large ear pinnae

Head And Neck Nose:
prominent nasal root

Clinical features from OMIM®:

214150 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 ERCC5 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 ERCC1 ERCC5 ERCC6
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 ERCC1 ERCC2 ERCC5 ERCC6

MGI Mouse Phenotypes related to Cerebrooculofacioskeletal Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ERCC1 ERCC2 ERCC5 ERCC6

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Impact of Contact Lens Coefficient of Friction (CoF) on the Development of Lid Wiper Epitheliopathy (LWE) Completed NCT03209505 Phase 4
2 Effects of rTMS Over Right COF Blood Perfusion in OCD Patients: an ASL Double Blinded Study Unknown status NCT03918837

Search NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 1

Genetic Tests for Cerebrooculofacioskeletal Syndrome 1

Genetic tests related to Cerebrooculofacioskeletal Syndrome 1:

# Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 1 29 ERCC6

Anatomical Context for Cerebrooculofacioskeletal Syndrome 1

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 1:

40
Eye, Spinal Cord, Cerebellum, Lung, Breast

Publications for Cerebrooculofacioskeletal Syndrome 1

Articles related to Cerebrooculofacioskeletal Syndrome 1:

(show top 50) (show all 58)
# Title Authors PMID Year
1
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 61 57 6
20456449 2010
2
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 61 57 6
18628313 2008
3
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 57 6 61
10739753 2000
4
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 61 6 57
7063265 1982
5
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. 57 61
9329459 1997
6
COFS syndrome with familial 1;16 translocation. 57 61
9001808 1996
7
Cerebro-oculo-facio-skeletal syndrome: further delineation. 61 57
1951466 1991
8
Further evidence for the autosomal-recessive inheritance of the COFS syndrome. 61 57
825334 1976
9
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. 57 61
4211825 1974
10
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene. 6
27186691 2017
11
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 6
27004399 2016
12
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. 6
26620705 2016
13
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 6
26218421 2015
14
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome. 6
25356239 2014
15
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex. 6
21143350 2011
16
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 6
19894250 2010
17
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. 6
18784753 2008
18
Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. 6
11809892 2002
19
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 6
9443879 1998
20
Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes. 57
3674107 1987
21
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case. 57
6705255 1984
22
The cerebro-oculo-facio-skeletal syndrome. 57
7355980 1980
23
The cerebro-oculo-facio-skeletal syndrome. 57
97035 1978
24
Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome. 57
402067 1977
25
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. 57
4431498 1974
26
The cerebro-oculo-facio-skeletal syndrome. 57
4212394 1974
27
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. 57
5560051 1971
28
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 61 54
11443545 2001
29
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis. 61
33766032 2021
30
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. 61
33369099 2021
31
COFS type 3 in an Indian family with antenatally detected arthrogryposis. 61
33219753 2021
32
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. 61
32052936 2020
33
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders. 61
25296907 2015
34
Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency. 61
25299392 2014
35
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. 61
24154677 2013
36
Cockayne syndrome: the expanding clinical and mutational spectrum. 61
23428416 2013
37
Disease-causing missense mutations in human DNA helicase disorders. 61
23276657 2013
38
DNA helicases associated with genetic instability, cancer, and aging. 61
23161009 2013
39
Cerebro-oculo-facio-skeletal syndrome. 61
20687508 2010
40
Magnetic resonance imaging of the fetal central nervous system in Singapore. 61
19816636 2009
41
Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. 61
19250421 2009
42
Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. 61
15630331 2004
43
MICRO syndrome: an entity distinct from COFS syndrome. 61
15216543 2004
44
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. 61
12405446 2002
45
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. 61
11300264 2001
46
[Cerebro-oculo-facio-skeletal (COFS) syndrome]. 61
11462474 2001
47
Cockayne Syndrome 61
20301516 2000
48
Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. 61
11084975 2000
49
[Cerebro-oculo-facio-skeletal (COFS) syndrome]. 61
11057139 2000
50
Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome. 61
11140418 2000

Variations for Cerebrooculofacioskeletal Syndrome 1

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 1:

6 (show top 50) (show all 298)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6 ERCC6, 2-BP DEL, 3794AA Deletion Pathogenic 1706 GRCh37:
GRCh38:
2 ERCC6 NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) SNV Pathogenic 1711 rs121917904 GRCh37: 10:50690855-50690855
GRCh38: 10:49482809-49482809
3 ERCC6 NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) SNV Pathogenic 1712 rs121917905 GRCh37: 10:50679131-50679131
GRCh38: 10:49471085-49471085
4 ERCC6 NM_000124.4(ERCC6):c.2254A>G (p.Met752Val) SNV Pathogenic 1713 rs1590413260 GRCh37: 10:50686432-50686432
GRCh38: 10:49478386-49478386
5 ERCC6 NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) SNV Pathogenic 31578 rs185142838 GRCh37: 10:50669519-50669519
GRCh38: 10:49461473-49461473
6 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.1004del (p.Leu335fs) Deletion Pathogenic 522995 rs1554793305 GRCh37: 10:50732472-50732472
GRCh38: 10:49524426-49524426
7 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
8 ERCC6 NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) SNV Pathogenic 553383 rs751448793 GRCh37: 10:50682102-50682102
GRCh38: 10:49474056-49474056
9 ERCC6 NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) SNV Pathogenic 31578 rs185142838 GRCh37: 10:50669519-50669519
GRCh38: 10:49461473-49461473
10 ERCC6 NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) SNV Pathogenic 557733 rs1554787509 GRCh37: 10:50682111-50682111
GRCh38: 10:49474065-49474065
11 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472
12 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
13 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) SNV Pathogenic 430298 rs376526037 GRCh37: 10:50691550-50691550
GRCh38: 10:49483504-49483504
14 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
15 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) SNV Pathogenic 998032 rs376526037 GRCh37: 10:50691550-50691550
GRCh38: 10:49483504-49483504
16 ERCC6 NM_000124.4(ERCC6):c.3183_3184del (p.Ser1062fs) Microsatellite Pathogenic 1028079 GRCh37: 10:50678822-50678823
GRCh38: 10:49470776-49470777
17 ERCC6 NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) Duplication Pathogenic 1034077 GRCh37: 10:50690808-50690809
GRCh38: 10:49482762-49482763
18 ERCC6 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) SNV Pathogenic 190160 rs151242354 GRCh37: 10:50690735-50690735
GRCh38: 10:49482689-49482689
19 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
20 ERCC6 NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) SNV Likely pathogenic 554231 rs762976316 GRCh37: 10:50666944-50666944
GRCh38: 10:49458898-49458898
21 ERCC6 NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) SNV Likely pathogenic 374116 rs1057518910 GRCh37: 10:50708680-50708680
GRCh38: 10:49500634-49500634
22 ERCC6 NM_000124.4(ERCC6):c.2383-1G>A SNV Likely pathogenic 558051 rs1554787554 GRCh37: 10:50682289-50682289
GRCh38: 10:49474243-49474243
23 ERCC6 NM_000124.4(ERCC6):c.3589_3590GA[3] (p.Lys1198fs) Microsatellite Likely pathogenic 558059 rs1287286877 GRCh37: 10:50678413-50678414
GRCh38: 10:49470367-49470368
24 ERCC6 NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) SNV Likely pathogenic 502165 rs906755254 GRCh37: 10:50680507-50680507
GRCh38: 10:49472461-49472461
25 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) SNV Likely pathogenic 225905 rs875989810 GRCh37: 10:50736472-50736472
GRCh38: 10:49528426-49528426
26 ERCC6 NM_000124.4(ERCC6):c.1527-2A>G SNV Likely pathogenic 558660 rs768608345 GRCh37: 10:50708744-50708744
GRCh38: 10:49500698-49500698
27 ERCC6 NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) Deletion Likely pathogenic 558665 rs1554875155 GRCh37: 10:50678392-50678392
GRCh38: 10:49470346-49470346
28 ERCC6 NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) Indel Likely pathogenic 557734 rs1554789393 GRCh37: 10:50701163-50701163
GRCh38: 10:49493117-49493117
29 ERCC6 NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) Deletion Likely pathogenic 557934 rs1554874073 GRCh37: 10:50669424-50669424
GRCh38: 10:49461378-49461378
30 ERCC6 NM_000124.4(ERCC6):c.4062+2T>A SNV Likely pathogenic 556731 rs1554873950 GRCh37: 10:50668417-50668417
GRCh38: 10:49460371-49460371
31 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) Deletion Likely pathogenic 556810 rs1554794360 GRCh37: 10:50738870-50738870
GRCh38: 10:49530824-49530824
32 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.207dup (p.Pro70fs) Duplication Likely pathogenic 556870 rs1554794641 GRCh37: 10:50740803-50740804
GRCh38: 10:49532757-49532758
33 ERCC6 NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) Insertion Likely pathogenic 190168 rs786205172 GRCh37: 10:50678398-50678399
GRCh38: 10:49470352-49470353
34 ERCC6 NM_000124.4(ERCC6):c.3778+1G>C SNV Likely pathogenic 555653 rs1554875114 GRCh37: 10:50678227-50678227
GRCh38: 10:49470181-49470181
35 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.422+1G>C SNV Likely pathogenic 556340 rs1198472093 GRCh37: 10:50740588-50740588
GRCh38: 10:49532542-49532542
36 ERCC6 NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs) Deletion Likely pathogenic 830316 GRCh37: 10:50678892-50678893
GRCh38: 10:49470846-49470847
37 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) SNV Likely pathogenic 555146 rs1554793270 GRCh37: 10:50732341-50732341
GRCh38: 10:49524295-49524295
38 ERCC6 NM_000124.4(ERCC6):c.1821+1G>A SNV Likely pathogenic 555221 rs1228919836 GRCh37: 10:50701162-50701162
GRCh38: 10:49493116-49493116
39 ERCC6 NM_000124.4(ERCC6):c.3984-2A>G SNV Likely pathogenic 554470 rs1554873973 GRCh37: 10:50668499-50668499
GRCh38: 10:49460453-49460453
40 ERCC6 NM_000124.4(ERCC6):c.2169+1G>A SNV Likely pathogenic 554803 rs1441655600 GRCh37: 10:50690732-50690732
GRCh38: 10:49482686-49482686
41 ERCC6 NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) Duplication Likely pathogenic 554825 rs1554875154 GRCh37: 10:50678378-50678379
GRCh38: 10:49470332-49470333
42 ERCC6 NM_000124.4(ERCC6):c.1398-2A>G SNV Likely pathogenic 554946 rs1317145066 GRCh37: 10:50714060-50714060
GRCh38: 10:49506014-49506014
43 ERCC6 NM_000124.4(ERCC6):c.2829+1G>A SNV Likely pathogenic 553712 rs1554875522 GRCh37: 10:50680954-50680954
GRCh38: 10:49472908-49472908
44 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.544-2A>G SNV Likely pathogenic 553815 rs1554794073 GRCh37: 10:50736573-50736573
GRCh38: 10:49528527-49528527
45 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.214del (p.Leu72fs) Deletion Likely pathogenic 553889 rs1554794640 GRCh37: 10:50740797-50740797
GRCh38: 10:49532751-49532751
46 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) SNV Likely pathogenic 551532 rs771781694 GRCh37: 10:50738783-50738783
GRCh38: 10:49530737-49530737
47 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) SNV Likely pathogenic 551535 rs577021605 GRCh37: 10:50740950-50740950
GRCh38: 10:49532904-49532904
48 ERCC6 NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) Duplication Likely pathogenic 551667 rs1386369933 GRCh37: 10:50669509-50669510
GRCh38: 10:49461463-49461464
49 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.257_258GC[1] (p.Ala87fs) Microsatellite Likely pathogenic 551983 rs1554794620 GRCh37: 10:50740751-50740752
GRCh38: 10:49532705-49532706
50 ERCC6 NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) SNV Likely pathogenic 190155 rs767247987 GRCh37: 10:50691430-50691430
GRCh38: 10:49483384-49483384

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

72
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Leu871Pro VAR_063514
2 ERCC6 p.Leu987Pro VAR_063515 rs121917905

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
12.62 ERCC6 ERCC5 ERCC2 ERCC1
2
Show member pathways
12.29 ERCC6 ERCC5 ERCC2 ERCC1
3
Show member pathways
12.06 ERCC6 ERCC5 ERCC2 ERCC1
4
Show member pathways
11.41 ERCC6 ERCC2
5
Show member pathways
10.99 ERCC6 ERCC5 ERCC2 ERCC1
6 10.59 ERCC6 ERCC2 ERCC1

GO Terms for Cerebrooculofacioskeletal Syndrome 1

Cellular components related to Cerebrooculofacioskeletal Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.35 PGBD3 ERCC6 ERCC5 ERCC2 ERCC1
2 nucleotide-excision repair complex GO:0000109 8.62 ERCC5 ERCC1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 ERCC6 ERCC5 ERCC2 ERCC1
2 DNA repair GO:0006281 9.76 ERCC6 ERCC5 ERCC2 ERCC1
3 response to oxidative stress GO:0006979 9.69 ERCC6 ERCC2 ERCC1
4 multicellular organism growth GO:0035264 9.65 ERCC6 ERCC2 ERCC1
5 response to UV GO:0009411 9.61 ERCC6 ERCC5 ERCC2
6 cell proliferation GO:0008283 9.6 ERCC2 ERCC1
7 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.59 ERCC5 ERCC1
8 DNA duplex unwinding GO:0032508 9.58 ERCC6 ERCC2
9 embryonic organ development GO:0048568 9.58 ERCC2 ERCC1
10 nucleotide-excision repair GO:0006289 9.58 ERCC5 ERCC2 ERCC1
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.57 ERCC6 ERCC2
12 nucleotide-excision repair, preincision complex assembly GO:0006294 9.56 ERCC5 ERCC2
13 global genome nucleotide-excision repair GO:0070911 9.55 ERCC2 ERCC1
14 response to X-ray GO:0010165 9.54 ERCC6 ERCC1
15 nucleotide-excision repair, DNA incision GO:0033683 9.54 ERCC5 ERCC2 ERCC1
16 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.52 ERCC6 ERCC1
17 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.5 ERCC5 ERCC2 ERCC1
18 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.43 ERCC5 ERCC2 ERCC1
19 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.33 ERCC5 ERCC2 ERCC1
20 UV protection GO:0009650 9.13 ERCC5 ERCC2 ERCC1
21 transcription-coupled nucleotide-excision repair GO:0006283 8.92 ERCC6 ERCC5 ERCC2 ERCC1

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 9.73 ERCC6 ERCC5 ERCC2 ERCC1
2 hydrolase activity GO:0016787 9.62 ERCC6 ERCC5 ERCC2 ERCC1
3 helicase activity GO:0004386 9.48 ERCC6 ERCC2
4 nuclease activity GO:0004518 9.46 ERCC5 ERCC1
5 single-stranded DNA binding GO:0003697 9.4 ERCC5 ERCC1
6 endonuclease activity GO:0004519 9.37 ERCC5 ERCC1
7 DNA helicase activity GO:0003678 9.26 ERCC6 ERCC2
8 damaged DNA binding GO:0003684 9.16 ERCC2 ERCC1
9 protein C-terminus binding GO:0008022 9.13 ERCC6 ERCC2 ERCC1
10 protein N-terminus binding GO:0047485 8.8 ERCC6 ERCC5 ERCC2

Sources for Cerebrooculofacioskeletal Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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