MCID: ESC006
MIFTS: 9

Esco2 Spectrum Disorder

Aliases & Classifications for Esco2 Spectrum Disorder

MalaCards integrated aliases for Esco2 Spectrum Disorder:

Name: Esco2 Spectrum Disorder 24

Summaries for Esco2 Spectrum Disorder

MalaCards based summary : Esco2 Spectrum Disorder is related to cleft palate, isolated and clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly. An important gene associated with Esco2 Spectrum Disorder is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2). Affiliated tissues include testes.

GeneReviews: NBK1153

Related Diseases for Esco2 Spectrum Disorder

Diseases related to Esco2 Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.1
2 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
3 ear malformation 10.1
4 chromosome 2q35 duplication syndrome 10.1
5 roberts syndrome 10.1
6 sc phocomelia syndrome 10.1
7 alacrima, achalasia, and mental retardation syndrome 10.1
8 clubfoot 10.1
9 cleft lip 10.1
10 exophthalmos 10.1
11 cleft lip/palate 10.1

Graphical network of the top 20 diseases related to Esco2 Spectrum Disorder:



Diseases related to Esco2 Spectrum Disorder

Symptoms & Phenotypes for Esco2 Spectrum Disorder

Drugs & Therapeutics for Esco2 Spectrum Disorder

Search Clinical Trials , NIH Clinical Center for Esco2 Spectrum Disorder

Genetic Tests for Esco2 Spectrum Disorder

Anatomical Context for Esco2 Spectrum Disorder

MalaCards organs/tissues related to Esco2 Spectrum Disorder:

40
Testes

Publications for Esco2 Spectrum Disorder

Articles related to Esco2 Spectrum Disorder:

(show all 34)
# Title Authors PMID Year
1
Multivalent interaction of ESCO2 with the replication machinery is required for sister chromatid cohesion in vertebrates. 24
31879348 2020
2
Organization of Chromosomal DNA by SMC Complexes. 24
31577909 2019
3
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations. 24
31192177 2019
4
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
5
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
6
Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin. 24
26434741 2016
7
ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION. 24
30204960 2016
8
The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2. 24
24864645 2014
9
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. 24
24098154 2013
10
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. 24
21637801 2011
11
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. 24
19574259 2010
12
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. 24
19468298 2009
13
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 24
18411254 2008
14
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. 24
17533626 2007
15
Thalidomide use in the US : experience with pregnancy testing in the S.T.E.P.S. programme. 24
16569081 2006
16
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. 24
16380922 2005
17
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 24
16100726 2005
18
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. 24
15821733 2005
19
Thalidomide. 24
15172781 2004
20
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease. 24
11169558 2001
21
S.T.E.P.S.: a comprehensive program for controlling and monitoring access to thalidomide. 24
10211535 1999
22
Roberts-SC phocomelia syndrome: a case with additional anomalies. 24
8004795 1994
23
Roberts syndrome: a review of 100 cases and a new rating system for severity. 24
8291532 1993
24
Oculomotor nerve cavernous angioma in a patient with Roberts syndrome. 24
8322177 1993
25
History of C-patient with SC-Roberts/pseudothalidamide syndrome. 24
1642282 1992
26
Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. 24
1612213 1992
27
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. 24
1809233 1991
28
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. 24
2359099 1990
29
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. 24
3205861 1988
30
Rhabdomyosarcoma in Roberts syndrome. 24
3349442 1988
31
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. 24
3740099 1986
32
Premature centromere splitting in a presumptive mild form of Roberts syndrome. 24
6698562 1984
33
The SC phocomelia and the Roberts syndrome: nosologic aspects. 24
872834 1977
34
ESCO2 Spectrum Disorder 61
20301332 2006

Variations for Esco2 Spectrum Disorder

Expression for Esco2 Spectrum Disorder

Search GEO for disease gene expression data for Esco2 Spectrum Disorder.

Pathways for Esco2 Spectrum Disorder

GO Terms for Esco2 Spectrum Disorder

Sources for Esco2 Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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