Cerebrooculofacioskeletal Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 3:

Name: Cerebrooculofacioskeletal Syndrome 3 ⁵⁸ ³⁰ ⁶ ⁷⁴

Cofs3 ⁵⁸ ⁷⁶

Cerebro-Oculo-Facio-Skeletal Syndrome 3 ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
early death
one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)

HPO:

³³

cerebrooculofacioskeletal syndrome 3:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Skin diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616570

MeSH ⁴⁵ D001176 D002386 D005124 more

MedGen ⁴³ C1851443

UMLS ⁷⁴ C1851443

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Summaries for Cerebrooculofacioskeletal Syndrome 3

OMIM : ⁵⁸ Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (214150). (616570)

MalaCards based summary : Cerebrooculofacioskeletal Syndrome 3, also known as cofs3, is related to pectus excavatum, and has symptoms including edema An important gene associated with Cerebrooculofacioskeletal Syndrome 3 is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways is Nucleotide excision repair. Affiliated tissues include skin, brain and bone, and related phenotypes are cleft palate and microphthalmia

UniProtKB/Swiss-Prot : ⁷⁶ Cerebro-oculo-facio-skeletal syndrome 3: 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 : ⁷⁷ Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

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Related Diseases for Cerebrooculofacioskeletal Syndrome 3

Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Cerebrooculofacioskeletal Syndrome 2	Cerebrooculofacioskeletal Syndrome 4
Cerebrooculofacioskeletal Syndrome 3

Diseases related to Cerebrooculofacioskeletal Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	pectus excavatum	9.5	BIVM-ERCC5 ERCC5

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Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

³³ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	cleft palate ³³	occasional (7.5%)	HP:0000175
2	microphthalmia ³³	occasional (7.5%)	HP:0000568
3	low-set ears ³³		HP:0000369
4	global developmental delay ³³		HP:0001263
5	microcephaly ³³		HP:0000252
6	micrognathia ³³		HP:0000347
7	edema ³³		HP:0000969
8	intrauterine growth retardation ³³		HP:0001511
9	arthrogryposis multiplex congenita ³³		HP:0002804
10	talipes equinovarus ³³		HP:0001762
11	cutaneous photosensitivity ³³		HP:0000992
12	decreased fetal movement ³³		HP:0001558
13	rocker bottom foot ³³		HP:0001838

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Ears:
low-set ears

Head And Neck Face:
micrognathia

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia (in some patients)

Skeletal:
arthrogryposis

Skeletal Hands:
clenched fists

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
edema

Skeletal Feet:
talipes equinovarus
rocker bottom feet

Head And Neck Mouth:
cleft palate (in some patients)

Skin Nails Hair Skin:
sun sensitivity

Neurologic Central Nervous System:
lack of psychomotor development
immature cerebral sulcation (in some patients)
posterior fossa abnormalities (in some patients)

Laboratory Abnormalities:
increased cellular uv sensitivity

Clinical features from OMIM:

616570

UMLS symptoms related to Cerebrooculofacioskeletal Syndrome 3:

edema

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Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cerebrooculofacioskeletal Syndrome 3

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Genetic Tests for Cerebrooculofacioskeletal Syndrome 3

Genetic tests related to Cerebrooculofacioskeletal Syndrome 3:

#	Genetic test	Affiliating Genes
1	Cerebrooculofacioskeletal Syndrome 3 ³⁰	ERCC5

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Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

⁴²

Skin, Brain, Bone

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Publications for Cerebrooculofacioskeletal Syndrome 3

Articles related to Cerebrooculofacioskeletal Syndrome 3:

#	Title	Authors	Year
1	A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. ( 24700531 )	Drury S...Scott RH	2014
2	XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. ( 17466625 )	Ito S...Tanaka K	2007
3	Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. ( 11443545 )	Graham JM...Jaspers NG	2001
4	A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ( 9096355 )	Nouspikel T...Clarkson SG	1997
5	Xeroderma pigmentosum--Cockayne syndrome complex: a further case. ( 8818951 )	Hamel BC...Kleijer WJ	1996

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Genes for Cerebrooculofacioskeletal Syndrome 3

Genes related to Cerebrooculofacioskeletal Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	1017.35	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	8818951 9096355 11443545 (more) 17466625
2	BIVM-ERCC5	BIVM-ERCC5 Readthrough	Protein Coding	7.35	GeneCards inferred via : Variants (show sections)

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Variations for Cerebrooculofacioskeletal Syndrome 3

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ERCC5	ERCC5, 1-BP DEL, 2972T	deletion	Pathogenic
2	ERCC5	NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr)	single nucleotide variant	Uncertain significance	rs142438319	GRCh37	Chromosome 13, 103518693: 103518693
3	ERCC5	NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr)	single nucleotide variant	Uncertain significance	rs142438319	GRCh38	Chromosome 13, 102866343: 102866343
4	ERCC5	NM_000123.3(ERCC5): c.2766dupA (p.Leu923Thrfs)	duplication	Pathogenic	rs760232640	GRCh37	Chromosome 13, 103524635: 103524635
5	ERCC5	NM_000123.3(ERCC5): c.2766dupA (p.Leu923Thrfs)	duplication	Pathogenic	rs760232640	GRCh38	Chromosome 13, 102872285: 102872285
6	ERCC5	NM_000123.3(ERCC5): c.2818G> A (p.Val940Met)	single nucleotide variant	Uncertain significance	rs146344855	GRCh37	Chromosome 13, 103524687: 103524687
7	ERCC5	NM_000123.3(ERCC5): c.2818G> A (p.Val940Met)	single nucleotide variant	Uncertain significance	rs146344855	GRCh38	Chromosome 13, 102872337: 102872337

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Expression for Cerebrooculofacioskeletal Syndrome 3

Search GEO for disease gene expression data for Cerebrooculofacioskeletal Syndrome 3.

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Pathways for Cerebrooculofacioskeletal Syndrome 3

Pathways related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nucleotide excision repair ³⁸ Show member pathways Dual Incision in GG-NER ⁶⁷ Nucleotide Excision Repair Pathway ⁶⁵	10.69	BIVM-ERCC5 ERCC5

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GO Terms for Cerebrooculofacioskeletal Syndrome 3

Biological processes related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA repair	GO:0006281	9.16	BIVM-ERCC5 ERCC5
2	nucleotide-excision repair	GO:0006289	8.96	BIVM-ERCC5 ERCC5
3	nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	8.62	BIVM-ERCC5 ERCC5

Molecular functions related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	catalytic activity	GO:0003824	9.37	BIVM-ERCC5 ERCC5
2	nuclease activity	GO:0004518	9.32	BIVM-ERCC5 ERCC5
3	single-stranded DNA binding	GO:0003697	9.26	BIVM-ERCC5 ERCC5
4	endonuclease activity	GO:0004519	9.16	BIVM-ERCC5 ERCC5
5	hydrolase activity, acting on ester bonds	GO:0016788	8.96	BIVM-ERCC5 ERCC5
6	endodeoxyribonuclease activity	GO:0004520	8.62	BIVM-ERCC5 ERCC5

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Sources for Cerebrooculofacioskeletal Syndrome 3

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⁷² TGDB

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cerebrooculofacioskeletal Syndrome 3 (COFS3)

Aliases & Classifications for Cerebrooculofacioskeletal Syndrome 3

MalaCards integrated aliases for Cerebrooculofacioskeletal Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cerebrooculofacioskeletal Syndrome 3

Related Diseases for Cerebrooculofacioskeletal Syndrome 3

Diseases in the Cerebrooculofacioskeletal Syndrome 1 family:

Diseases related to Cerebrooculofacioskeletal Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Cerebrooculofacioskeletal Syndrome 3:

Drugs & Therapeutics for Cerebrooculofacioskeletal Syndrome 3

Genetic Tests for Cerebrooculofacioskeletal Syndrome 3

Genetic tests related to Cerebrooculofacioskeletal Syndrome 3:

Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

Publications for Cerebrooculofacioskeletal Syndrome 3

Articles related to Cerebrooculofacioskeletal Syndrome 3:

Genes for Cerebrooculofacioskeletal Syndrome 3

Genes related to Cerebrooculofacioskeletal Syndrome 3 (1 elite genes):

Variations for Cerebrooculofacioskeletal Syndrome 3

ClinVar genetic disease variations for Cerebrooculofacioskeletal Syndrome 3:

Expression for Cerebrooculofacioskeletal Syndrome 3

Pathways for Cerebrooculofacioskeletal Syndrome 3

Pathways related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

GO Terms for Cerebrooculofacioskeletal Syndrome 3

Biological processes related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

Molecular functions related to Cerebrooculofacioskeletal Syndrome 3 according to GeneCards Suite gene sharing:

Sources for Cerebrooculofacioskeletal Syndrome 3