COFS2
MCID: CRB098
MIFTS: 30

Cerebrooculofacioskeletal Syndrome 2 (COFS2)

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

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 2

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 2:

Name: Cerebrooculofacioskeletal Syndrome 2 57 29 13 6 70
Cofs2 57 72
Cerebro-Oculo-Facio-Skeletal Syndrome 2 72
Cofs Syndrome 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in early childhood
based on report of 1 ashkenazi jewish boy (last curated july 2017)


HPO:

31
cerebrooculofacioskeletal syndrome 2:
Onset and clinical course death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 2

UniProtKB/Swiss-Prot : 72 Cerebro-oculo-facio-skeletal syndrome 2: 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 2, also known as cofs2, is related to cerebro-oculo-facio-skeletal syndrome and cerebrooculofacioskeletal syndrome 1. An important gene associated with Cerebrooculofacioskeletal Syndrome 2 is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit). Affiliated tissues include eye, and related phenotypes are hearing impairment and cataract

More information from OMIM: 610756 PS214150

Related Diseases for Cerebrooculofacioskeletal Syndrome 2

Graphical network of the top 20 diseases related to Cerebrooculofacioskeletal Syndrome 2:



Diseases related to Cerebrooculofacioskeletal Syndrome 2

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 2

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 2:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 cataract 31 HP:0000518
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 intrauterine growth retardation 31 HP:0001511
6 micrognathia 31 HP:0000347
7 kyphoscoliosis 31 HP:0002751
8 micropenis 31 HP:0000054
9 microphthalmia 31 HP:0000568
10 deeply set eye 31 HP:0000490
11 convex nasal ridge 31 HP:0000444
12 cutaneous photosensitivity 31 HP:0000992
13 camptodactyly of finger 31 HP:0100490
14 scrotal hypoplasia 31 HP:0000046
15 sparse hair 31 HP:0008070
16 rocker bottom foot 31 HP:0001838
17 small for gestational age 31 HP:0001518
18 large beaked nose 31 HP:0003683
19 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
micropenis
scrotal hypoplasia

Head And Neck Nose:
beaked nose

Neurologic Central Nervous System:
developmental delay, severe

Skeletal Limbs:
joint contractures

Growth Height:
short birth length (39.5 cm)

Growth Other:
intrauterine growth deficiency, severe

Respiratory:
respiratory difficulties secondary to neurodegenerative disease

Head And Neck Mouth:
micrognathia

Skin Nails Hair Hair:
sparse hair

Head And Neck Eyes:
deep-set eyes
congenital cataracts, bilateral

Skeletal Hands:
finger contractures

Skeletal Feet:
rocker-bottom feet

Growth Weight:
low birth weight (1.5 kg)

Head And Neck Ears:
hearing impairment, profound

Skin Nails Hair Skin:
sunburned appearance

Clinical features from OMIM®:

610756 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 2

Genetic Tests for Cerebrooculofacioskeletal Syndrome 2

Genetic tests related to Cerebrooculofacioskeletal Syndrome 2:

# Genetic test Affiliating Genes
1 Cerebrooculofacioskeletal Syndrome 2 29 ERCC2

Anatomical Context for Cerebrooculofacioskeletal Syndrome 2

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 2:

40
Eye

Publications for Cerebrooculofacioskeletal Syndrome 2

Articles related to Cerebrooculofacioskeletal Syndrome 2:

(show all 41)
# Title Authors PMID Year
1
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 6 61 57
11443545 2001
2
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 6
9238033 1997
3
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2. 61
33369099 2021
4
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis. 61
33766032 2021
5
COFS type 3 in an Indian family with antenatally detected arthrogryposis. 61
33219753 2021
6
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. 61
32052936 2020
7
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders. 61
25296907 2015
8
Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency. 61
25299392 2014
9
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. 61
24154677 2013
10
Cockayne syndrome: the expanding clinical and mutational spectrum. 61
23428416 2013
11
Disease-causing missense mutations in human DNA helicase disorders. 61
23276657 2013
12
DNA helicases associated with genetic instability, cancer, and aging. 61
23161009 2013
13
ERCC6 founder mutation identified in Finnish patients with COFS syndrome. 61
20456449 2010
14
Cerebro-oculo-facio-skeletal syndrome. 61
20687508 2010
15
Magnetic resonance imaging of the fetal central nervous system in Singapore. 61
19816636 2009
16
Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. 61
19250421 2009
17
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 61
18628313 2008
18
Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. 61
15630331 2004
19
MICRO syndrome: an entity distinct from COFS syndrome. 61
15216543 2004
20
Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. 61
12405446 2002
21
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. 61
11300264 2001
22
[Cerebro-oculo-facio-skeletal (COFS) syndrome]. 61
11462474 2001
23
Cockayne Syndrome 61
20301516 2000
24
Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. 61
11084975 2000
25
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. 61
10739753 2000
26
Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome. 61
11140418 2000
27
[Cerebro-oculo-facio-skeletal (COFS) syndrome]. 61
11057139 2000
28
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. 61
9329459 1997
29
Restrictive dermopathy: report and review. 61
9217218 1997
30
COFS syndrome with familial 1;16 translocation. 61
9001808 1996
31
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 61
8818951 1996
32
[Bilateral vocal cord paralysis in children]. 61
8822258 1996
33
Cerebro-oculo-facio-skeletal syndrome: further delineation. 61
1951466 1991
34
Infantile spasms in COFS syndrome. 61
1930425 1991
35
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? 61
1741976 1991
36
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. 61
2468771 1989
37
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. 61
7153815 1982
38
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. 61
7063265 1982
39
COFS syndrome revisited. 61
728562 1978
40
Further evidence for the autosomal-recessive inheritance of the COFS syndrome. 61
825334 1976
41
Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. 61
4211825 1974

Variations for Cerebrooculofacioskeletal Syndrome 2

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 2:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC2 NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) SNV Pathogenic 16787 rs121913023 GRCh37: 19:45855769-45855769
GRCh38: 19:45352511-45352511
2 ERCC2 NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) SNV Pathogenic 16788 rs121913024 GRCh37: 19:45856060-45856060
GRCh38: 19:45352802-45352802
3 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
4 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
5 ERCC2 NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) SNV Pathogenic 329508 rs376556895 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
6 ERCC2 NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) SNV Pathogenic 16793 rs41556519 GRCh37: 19:45855610-45855610
GRCh38: 19:45352352-45352352
7 ERCC2 NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter) SNV Likely pathogenic 559886 rs1555775416 GRCh37: 19:45855565-45855565
GRCh38: 19:45352307-45352307
8 ERCC2 NM_000400.4(ERCC2):c.462C>G (p.His154Gln) SNV Uncertain significance 982306 GRCh37: 19:45868315-45868315
GRCh38: 19:45365057-45365057
9 ERCC2 NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) SNV Uncertain significance 134116 rs137910235 GRCh37: 19:45867721-45867721
GRCh38: 19:45364463-45364463
10 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) SNV Uncertain significance 134099 rs200665173 GRCh37: 19:45856019-45856019
GRCh38: 19:45352761-45352761
11 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) SNV Uncertain significance 134099 rs200665173 GRCh37: 19:45856019-45856019
GRCh38: 19:45352761-45352761
12 ERCC2 NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) SNV Uncertain significance 134098 rs147972150 GRCh37: 19:45873449-45873449
GRCh38: 19:45370191-45370191

UniProtKB/Swiss-Prot genetic disease variations for Cerebrooculofacioskeletal Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg616Trp VAR_008193 rs121913024
2 ERCC2 p.Asp681Asn VAR_017293 rs121913023

Expression for Cerebrooculofacioskeletal Syndrome 2

Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 2.

Pathways for Cerebrooculofacioskeletal Syndrome 2

GO Terms for Cerebrooculofacioskeletal Syndrome 2

Sources for Cerebrooculofacioskeletal Syndrome 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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