MCID: CRB098
MIFTS: 25

Cerebrooculofacioskeletal Syndrome 2

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 2

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 2:

Name: Cerebrooculofacioskeletal Syndrome 2 57 29 13 6 73
Cofs2 57 75
Cerebro-Oculo-Facio-Skeletal Syndrome 2 75
Cofs Syndrome 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebrooculofacioskeletal syndrome 2:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrooculofacioskeletal Syndrome 2

UniProtKB/Swiss-Prot : 75 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 scrotal hypoplasia and micropenis

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 11.7
2 cerebrooculofacioskeletal syndrome 1 11.6
3 cerebrooculofacioskeletal syndrome 4 11.3
4 congenital intrauterine infection-like syndrome 10.9
5 infantile epileptic encephalopathy 9.9

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



Diseases related to Cerebrooculofacioskeletal Syndrome 2

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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:
scrotal hypoplasia
micropenis

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

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 2:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scrotal hypoplasia 32 HP:0000046
2 micropenis 32 HP:0000054
3 microcephaly 32 HP:0000252
4 micrognathia 32 HP:0000347
5 hearing impairment 32 HP:0000365
6 deeply set eye 32 HP:0000490
7 cataract 32 HP:0000518
8 microphthalmia 32 HP:0000568
9 cutaneous photosensitivity 32 HP:0000992
10 global developmental delay 32 HP:0001263
11 intrauterine growth retardation 32 HP:0001511
12 rocker bottom foot 32 HP:0001838
13 kyphoscoliosis 32 HP:0002751
14 large beaked nose 32 HP:0003683
15 camptodactyly of finger 32 HP:0100490

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:

41
Eye

Publications for Cerebrooculofacioskeletal Syndrome 2

Articles related to Cerebrooculofacioskeletal Syndrome 2:

# 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
Infantile spasms in COFS syndrome. ( 1930425 )
1991
4
Chondro-osseous changes in Cerebro-Oculo-Facial-Skeletal (COFS) syndrome. ( 7153815 )
1982

Variations for Cerebrooculofacioskeletal Syndrome 2

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

75
# 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.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801
6 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh37 Chromosome 19, 45856059: 45856059

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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