COFS2
MCID: CRB098
MIFTS: 27

Cerebrooculofacioskeletal Syndrome 2 (COFS2)

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

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 2

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 2:

Name: Cerebrooculofacioskeletal Syndrome 2 58 30 13 6 74
Cofs2 58 76
Cerebro-Oculo-Facio-Skeletal Syndrome 2 76
Cofs Syndrome 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cerebrooculofacioskeletal syndrome 2:
Mortality/Aging death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 2

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 610756

Related Diseases for Cerebrooculofacioskeletal Syndrome 2

Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4
Cerebrooculofacioskeletal Syndrome 3

Diseases related to Cerebrooculofacioskeletal Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 11.9
2 cerebrooculofacioskeletal syndrome 1 11.8
3 cerebrooculofacioskeletal syndrome 4 11.5
4 congenital intrauterine infection-like syndrome 11.1

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 2

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 2:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 cataract 33 HP:0000518
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 micrognathia 33 HP:0000347
6 intrauterine growth retardation 33 HP:0001511
7 kyphoscoliosis 33 HP:0002751
8 microphthalmia 33 HP:0000568
9 deeply set eye 33 HP:0000490
10 cutaneous photosensitivity 33 HP:0000992
11 camptodactyly of finger 33 HP:0100490
12 micropenis 33 HP:0000054
13 scrotal hypoplasia 33 HP:0000046
14 rocker bottom foot 33 HP:0001838
15 large beaked nose 33 HP:0003683
16 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
sparse hair

Head And Neck Nose:
beaked nose

Neurologic Central Nervous System:
developmental delay, severe

Skeletal Feet:
rocker-bottom feet

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

Genitourinary External Genitalia Male:
micropenis
scrotal hypoplasia

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

Skeletal Limbs:
joint contractures

Skeletal Hands:
finger contractures

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

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 30 ERCC2

Anatomical Context for Cerebrooculofacioskeletal Syndrome 2

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 2:

42
Eye

Publications for Cerebrooculofacioskeletal Syndrome 2

Articles related to Cerebrooculofacioskeletal Syndrome 2:

(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
Infantile spasms in COFS syndrome. ( 1930425 )
1991
8
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes? ( 1741976 )
1991
9
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. ( 7153815 )
1982
10
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. ( 7063265 )
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 2

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

76
# Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg616Trp VAR_008193 rs121913024
2 ERCC2 p.Asp681Asn VAR_017293 rs121913023

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC2 NM_000400.3(ERCC2): c.2041G> A (p.Asp681Asn) single nucleotide variant Pathogenic rs121913023 GRCh37 Chromosome 19, 45855769: 45855769
2 ERCC2 NM_000400.3(ERCC2): c.2041G> A (p.Asp681Asn) single nucleotide variant Pathogenic rs121913023 GRCh38 Chromosome 19, 45352511: 45352511
3 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
4 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh38 Chromosome 19, 45352802: 45352802
5 ERCC2 NM_000400.3(ERCC2): c.2164C> T (p.Arg722Trp) single nucleotide variant Pathogenic rs121913026 GRCh37 Chromosome 19, 45855493: 45855493
6 ERCC2 NM_000400.3(ERCC2): c.2164C> T (p.Arg722Trp) single nucleotide variant Pathogenic rs121913026 GRCh38 Chromosome 19, 45352235: 45352235
7 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801
8 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh37 Chromosome 19, 45856059: 45856059
9 ERCC2 NM_000400.3(ERCC2): c.2092C> T (p.Gln698Ter) single nucleotide variant Likely pathogenic rs1555775416 GRCh37 Chromosome 19, 45855565: 45855565
10 ERCC2 NM_000400.3(ERCC2): c.2092C> T (p.Gln698Ter) single nucleotide variant Likely pathogenic rs1555775416 GRCh38 Chromosome 19, 45352307: 45352307

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
20 FMA
29 GO
30 GTR
31 HGMD
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35 ICD10 via Orphanet
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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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