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 ⁵⁶ ²⁹ ⁶ ⁷¹

Cofs3 ⁵⁶ ⁷³

Cerebro-Oculo-Facio-Skeletal Syndrome 3 ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

cerebrooculofacioskeletal syndrome 3:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616570

OMIM Phenotypic Series ⁵⁶ PS214150

MeSH ⁴³ D001176 D002386 D005124 more

MedGen ⁴¹ C1851443

UMLS ⁷¹ C1851443

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Summaries for Cerebrooculofacioskeletal Syndrome 3

OMIM : ⁵⁶ 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, is also known as cofs3, 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 eye, and related phenotypes are cleft palate and microphthalmia

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... 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

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Symptoms & Phenotypes for Cerebrooculofacioskeletal Syndrome 3

Human phenotypes related to Cerebrooculofacioskeletal Syndrome 3:

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	cleft palate ³¹	occasional (7.5%)	HP:0000175
2	microphthalmia ³¹	occasional (7.5%)	HP:0000568
3	low-set ears ³¹		HP:0000369
4	global developmental delay ³¹		HP:0001263
5	micrognathia ³¹		HP:0000347
6	intrauterine growth retardation ³¹		HP:0001511
7	microcephaly ³¹		HP:0000252
8	arthrogryposis multiplex congenita ³¹		HP:0002804
9	edema ³¹		HP:0000969
10	cutaneous photosensitivity ³¹		HP:0000992
11	talipes equinovarus ³¹		HP:0001762
12	rocker bottom foot ³¹		HP:0001838
13	decreased fetal movement ³¹		HP:0001558

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
low-set ears

Growth Other:
intrauterine growth retardation

Muscle Soft Tissue:
edema

Head And Neck Eyes:
microphthalmia (in some patients)

Skeletal:
arthrogryposis

Skeletal Hands:
clenched fists

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Face:
micrognathia

Head And Neck Head:
microcephaly

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 ²⁹	ERCC5

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Anatomical Context for Cerebrooculofacioskeletal Syndrome 3

MalaCards organs/tissues related to Cerebrooculofacioskeletal Syndrome 3:

⁴⁰

Skin, Brain, Eye, Bone

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Publications for Cerebrooculofacioskeletal Syndrome 3

Articles related to Cerebrooculofacioskeletal Syndrome 3:

#	Title	Authors	PMID	Year
1	A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. ⁵⁶ ⁶	Drury S...Scott RH	24700531	2014
2	Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. ⁵⁶ ⁶	Graham JM...Jaspers NG	11443545	2001
3	A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ⁵⁶ ⁶	Nouspikel T...Clarkson SG	9096355	1997
4	Xeroderma pigmentosum--Cockayne syndrome complex: a further case. ⁵⁶ ⁶	Hamel BC...Kleijer WJ	8818951	1996
5	XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. ⁶	Ito S...Tanaka K	17466625	2007

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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	1008.01	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	9096355 11443545 8818951 (more) 17466625 24700531
2	BIVM-ERCC5	BIVM-ERCC5 Readthrough	Protein Coding	8.01	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ERCC5	NM_000123.3(ERCC5):c.2766dup (p.Leu923fs)	duplication	Pathogenic	209978	rs760232640	13:103524633-103524634	13:102872283-102872284
2	ERCC5	ERCC5, 1-BP DEL, 2972T	deletion	Pathogenic	16568
3	ERCC5	NM_000123.4(ERCC5):c.2427del (p.Asp809fs)	deletion	Likely pathogenic	800881		13:103519089-103519089	13:102866739-102866739
4	ERCC5	NM_000123.3(ERCC5):c.2818G>A (p.Val940Met)	SNV	Conflicting interpretations of pathogenicity	310936	rs146344855	13:103524687-103524687	13:102872337-102872337
5	ERCC5	NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr)	SNV	Uncertain significance	134160	rs142438319	13:103518693-103518693	13:102866343-102866343

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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 ³⁶ Show member pathways Dual Incision in GG-NER ⁶⁵ Nucleotide Excision Repair Pathway ⁶³	10.69	ERCC5 BIVM-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	9.26	ERCC5 BIVM-ERCC5
2	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.16	ERCC5 BIVM-ERCC5
3	nucleotide-excision repair	GO:0006289	8.96	ERCC5 BIVM-ERCC5
4	nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	8.62	ERCC5 BIVM-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	ERCC5 BIVM-ERCC5
2	nuclease activity	GO:0004518	9.32	ERCC5 BIVM-ERCC5
3	single-stranded DNA binding	GO:0003697	9.26	ERCC5 BIVM-ERCC5
4	endonuclease activity	GO:0004519	9.16	ERCC5 BIVM-ERCC5
5	hydrolase activity, acting on ester bonds	GO:0016788	8.96	ERCC5 BIVM-ERCC5
6	endodeoxyribonuclease activity	GO:0004520	8.62	ERCC5 BIVM-ERCC5

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Sources for Cerebrooculofacioskeletal Syndrome 3

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

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