MCID: RBR001
MIFTS: 55

Roberts Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases, Bone diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Roberts Syndrome

MalaCards integrated aliases for Roberts Syndrome:

Name: Roberts Syndrome 53 12 72 72 23 49 24 55 71 36 13 41 14
Roberts-Sc Phocomelia Syndrome 23 49 24 55 28 69
Pseudothalidomide Syndrome 23 49 24 55
Rbs 53 49 24 71
Long Bone Deficiencies Associated with Cleft Lip-Palate 53 12 49
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 49 24
Tetraphocomelia-Cleft Palate Syndrome 49 24
Sc Pseudothalidomide Syndrome 24 55
Appelt-Gerken-Lenz Syndrome 49 24
Sc Phocomelia Syndrome 49 24
Roberts Tetraphocomelia Syndrome 49
Roberts Syndrome/sc Phocomelia 49
Sc-Phocomelia Syndrome 23
Hemoglobin Sc Disease 69
Pseudothalidomide 23
Sc Phocomelia 55
Sc Syndrome 24
Roberts-Sc 23
Sc Disease 51

Characteristics:

Orphanet epidemiological data:

55
roberts syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

53
Miscellaneous:
polyhydramnios
presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
likely allelic to sc phocomelia syndrome

Inheritance:
autosomal recessive


HPO:

31
roberts syndrome:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Roberts Syndrome

NIH Rare Diseases : 49 Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern. Last updated: 2/11/2011

MalaCards based summary : Roberts Syndrome, also known as roberts-sc phocomelia syndrome, is related to warsaw breakage syndrome and sc phocomelia syndrome, and has symptoms including malar flattening, hypertelorism and short neck. An important gene associated with Roberts Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include bone, kidney and heart, and related phenotype is mortality/aging.

Genetics Home Reference : 24 Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome.

OMIM : 53 Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010). (268300)

UniProtKB/Swiss-Prot : 71 Roberts syndrome: Rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect).

GeneReviews: NBK1153

Related Diseases for Roberts Syndrome

Graphical network of the top 20 diseases related to Roberts Syndrome:



Diseases related to Roberts Syndrome

Symptoms & Phenotypes for Roberts Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
cataract
microphthalmia
shallow orbits
downslanting palpebral fissures
more
Head And Neck Neck:
short neck
nuchal cystic hygroma

Neurologic Central Nervous System:
hydrocephalus
cranial nerve paralysis
frontal encephalocele
mental retardation

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary Kidneys:
horseshoe kidney
polycystic kidney

Genitourinary External Genitalia Male:
hypospadias
enlarged penis

Skin Nails Hair Hair:
sparse hair
silvery blonde scalp hair

Genitourinary Internal Genitalia Female:
bicornuate uterus

Genitourinary External Genitalia Female:
enlarged labia minora
enlarged clitoris

Skeletal Limbs:
elbow contracture
hypomelia (more severe in upper limbs)
tetraphocomelia
absence or reduction in length of humerus, radius, or ulna
knee contracture
more
Growth Height:
birth length less than 40cm

Growth Other:
severe prenatal growth deficiency
mild-severe postnatal growth deficiency

Skin Nails Hair Skin:
midfacial capillary hemangioma
cafe au lait spots on trunk and extremities

Head And Neck Ears:
low-set ears
lobeless ears
malformed ears
posteriorly-angulated ears

Skeletal Hands:
clinodactyly
brachydactyly
oligodactyly
syndactyly
wrist contracture
more
Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Face:
micrognathia
malar hypoplasia

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Skull:
craniosynostosis

Abdomen Spleen:
accessory spleen

Skeletal Feet:
talipes equinovalgus
ankle contracture
reduction in number of toes

Head And Neck Nose:
hypoplastic nasal alae
thin nares
widened nasal bridge

Laboratory Abnormalities:
normal karyotype
premature separation of centromeric heterochromatin
abnormal nuclear morphology

Growth Weight:
birth weight 1.5-2.2 kg

Abdomen Biliary Tract:
rudimentary gallbladder


Clinical features from OMIM:

268300

Human phenotypes related to Roberts Syndrome:

55 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
4 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
5 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
6 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
7 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
8 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
9 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
10 bowing of the long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006487
11 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
12 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
13 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
14 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
15 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
16 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008897
17 external ear malformation 55 31 frequent (33%) Frequent (79-30%) HP:0008572
18 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
19 underdeveloped nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000430
20 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
21 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
22 polycystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000113
23 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
24 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
25 sandal gap 55 31 occasional (7.5%) Occasional (29-5%) HP:0001852
26 bilateral single transverse palmar creases 55 31 occasional (7.5%) Occasional (29-5%) HP:0007598
27 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
28 radioulnar synostosis 55 31 frequent (33%) Frequent (79-30%) HP:0002974
29 long penis 55 31 frequent (33%) Frequent (79-30%) HP:0000040
30 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
31 craniosynostosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001363
32 synostosis of carpal bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0005048
33 cleft upper lip 55 31 frequent (33%) Frequent (79-30%) HP:0000204
34 wrist flexion contracture 55 31 occasional (7.5%) Occasional (29-5%) HP:0001239
35 blue sclerae 55 31 occasional (7.5%) Occasional (29-5%) HP:0000592
36 proximal placement of thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009623
37 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
38 complete duplication of thumb phalanx 55 31 hallmark (90%) Very frequent (99-80%) HP:0009943
39 premature birth 55 31 frequent (33%) Frequent (79-30%) HP:0001622
40 aplasia/hypoplasia of the thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009601
41 underdeveloped supraorbital ridges 55 31 frequent (33%) Frequent (79-30%) HP:0009891
42 hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0002984
43 phocomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0009829
44 absent earlobe 55 31 frequent (33%) Frequent (79-30%) HP:0000387
45 patellar aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0006443
46 mesomelic arm shortening 55 31 hallmark (90%) Very frequent (99-80%) HP:0005011
47 progressive flexion contractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0005876
48 knee flexion contracture 55 31 occasional (7.5%) Occasional (29-5%) HP:0006380
49 midface capillary hemangioma 55 31 frequent (33%) Frequent (79-30%) HP:0007452
50 severe intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008846

UMLS symptoms related to Roberts Syndrome:


seizures

MGI Mouse Phenotypes related to Roberts Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 DDX11 ESCO2 INCENP NIPBL RAD21 SMC3

Drugs & Therapeutics for Roberts Syndrome

Search Clinical Trials , NIH Clinical Center for Roberts Syndrome

Cochrane evidence based reviews: roberts syndrome

Genetic Tests for Roberts Syndrome

Genetic tests related to Roberts Syndrome:

# Genetic test Affiliating Genes
1 Roberts-Sc Phocomelia Syndrome 28 ESCO2

Anatomical Context for Roberts Syndrome

MalaCards organs/tissues related to Roberts Syndrome:

38
Bone, Kidney, Heart, Eye, Spleen, Uterus

Publications for Roberts Syndrome

Articles related to Roberts Syndrome:

(show top 50) (show all 93)
# Title Authors Year
1
Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature. ( 29434756 )
2018
2
Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome. ( 29084713 )
2017
3
Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome. ( 26729373 )
2016
4
Intrapartum diagnostic of Roberts syndrome - case presentation. ( 26193234 )
2015
5
Expanding the mutation and clinical spectrum of Roberts syndrome. ( 26710928 )
2015
6
Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome. ( 26044958 )
2015
7
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. ( 25927602 )
2015
8
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome. ( 25320640 )
2014
9
The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2. ( 24864645 )
2014
10
Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction. ( 25054091 )
2014
11
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. ( 24098154 )
2013
12
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). ( 22694322 )
2012
13
Antenatal three-dimensional sonographic features of Roberts syndrome. ( 21533789 )
2011
14
A child with Roberts syndrome. ( 21777535 )
2011
15
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. ( 21637801 )
2011
16
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. ( 21490908 )
2010
17
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. ( 20101700 )
2010
18
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. ( 19878742 )
2010
19
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. ( 19574259 )
2010
20
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. ( 19738907 )
2009
21
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. ( 19533786 )
2009
22
Roberts syndrome: facial dysmorphology in a mildly affected case. ( 19707122 )
2009
23
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. ( 18186147 )
2008
24
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. ( 18411254 )
2008
25
Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. ( 18710560 )
2008
26
Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation. ( 18209617 )
2007
27
Norman-Roberts syndrome: characterization of the phenotype in early fetal life. ( 17367103 )
2007
28
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome. ( 17708708 )
2007
29
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. ( 16719272 )
2006
30
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. ( 16547991 )
2006
31
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. ( 15821733 )
2005
32
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. ( 16380922 )
2005
33
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. ( 15887093 )
2005
34
Report of two Turkish infants with Norman-Roberts syndrome. ( 15083694 )
2004
35
Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes. ( 15094189 )
2004
36
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? ( 12548750 )
2003
37
Roberts syndrome, normal cell division, and normal intelligence. ( 12040206 )
2002
38
A case of Roberts syndrome described in 1737. ( 11494971 )
2001
39
Roberts syndrome from the plastic surgeon's viewpoint. ( 11604661 )
2001
40
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. ( 11117361 )
2000
41
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. ( 10925387 )
2000
42
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. ( 10861718 )
2000
43
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. ( 9788553 )
1998
44
Cell proliferation rate and nuclear morphometry in Roberts syndrome. ( 9894798 )
1998
45
Craniosynostosis in Roberts syndrome. ( 9134301 )
1997
46
Tetra-amelia and splenogonadal fusion in Roberts syndrome. ( 9028456 )
1997
47
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. ( 9332660 )
1997
48
Prenatal diagnosis of Roberts syndrome: two new cases. ( 8650122 )
1996
49
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? ( 9147883 )
1996
50
Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. ( 8705416 )
1996

Variations for Roberts Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Roberts Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 ESCO2 p.Trp539Gly VAR_022649 rs80359868

ClinVar genetic disease variations for Roberts Syndrome:

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 ESCO2 NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs) insertion Pathogenic rs80359859 GRCh37 Chromosome 8, 27645499: 27645500
2 ESCO2 NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs) duplication Pathogenic rs80359859 GRCh37 Chromosome 8, 27645499: 27645499
3 ESCO2 NM_001017420.2(ESCO2): c.1131+1G> A single nucleotide variant Pathogenic rs80359861 GRCh37 Chromosome 8, 27645520: 27645520
4 ESCO2 NM_001017420.2(ESCO2): c.1132-7A> G single nucleotide variant Pathogenic/Likely pathogenic rs80359862 GRCh37 Chromosome 8, 27646357: 27646357
5 ESCO2 NM_001017420.2(ESCO2): c.1263+1G> C single nucleotide variant Pathogenic rs80359863 GRCh37 Chromosome 8, 27646496: 27646496
6 ESCO2 NM_001017420.2(ESCO2): c.1354-18G> A single nucleotide variant Pathogenic rs80359865 GRCh37 Chromosome 8, 27650167: 27650167
7 ESCO2 NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs) deletion Pathogenic rs80359866 GRCh37 Chromosome 8, 27650292: 27650293
8 ESCO2 NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs) duplication Pathogenic rs80359867 GRCh37 Chromosome 8, 27657157: 27657157
9 ESCO2 NM_001017420.2(ESCO2): c.1674-2A> G single nucleotide variant Pathogenic rs80359869 GRCh37 Chromosome 8, 27660821: 27660821
10 ESCO2 NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs) deletion Pathogenic rs80359844 GRCh37 Chromosome 8, 27634077: 27634078
11 ESCO2 NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs) deletion Pathogenic rs80359845 GRCh37 Chromosome 8, 27634119: 27634122
12 ESCO2 NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs) deletion Pathogenic rs80359846 GRCh37 Chromosome 8, 27634132: 27634136
13 ESCO2 NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs) deletion Pathogenic rs80359847 GRCh37 Chromosome 8, 27634133: 27634134
14 ESCO2 NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs) duplication Pathogenic rs80359848 GRCh37 Chromosome 8, 27634242: 27634242
15 ESCO2 NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs) deletion Pathogenic rs80359851 GRCh37 Chromosome 8, 27634570: 27634571
16 ESCO2 NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs) deletion Pathogenic rs80359854 GRCh37 Chromosome 8, 27634585: 27634585
17 ESCO2 NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs) deletion Pathogenic rs80359855 GRCh37 Chromosome 8, 27634589: 27634590
18 ESCO2 NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs) deletion Pathogenic rs80359856 GRCh37 Chromosome 8, 27637704: 27637707
19 ESCO2 NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs) deletion Pathogenic rs80359857 GRCh37 Chromosome 8, 27637708: 27637709
20 ESCO2 NM_001017420.2(ESCO2): c.955+2_955+5delTAAG deletion Pathogenic rs80359858 GRCh37 Chromosome 8, 27637786: 27637789
21 ESCO2 NM_001017420.2(ESCO2): c.1175G> A (p.Cys392Tyr) single nucleotide variant Likely pathogenic rs146312522 GRCh38 Chromosome 8, 27788890: 27788890
22 ESCO2 NM_001017420.2(ESCO2): c.1615T> G (p.Trp539Gly) single nucleotide variant Pathogenic rs80359868 GRCh37 Chromosome 8, 27657175: 27657175
23 ESCO2 NM_001017420.2(ESCO2): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs80359849 GRCh37 Chromosome 8, 27634330: 27634330
24 ESCO2 NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs) duplication Pathogenic rs80359852 GRCh37 Chromosome 8, 27634576: 27634576
25 ESCO2 NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs) duplication Pathogenic rs80359853 GRCh37 Chromosome 8, 27634585: 27634585
26 ESCO2 NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter) single nucleotide variant Pathogenic rs80359864 GRCh37 Chromosome 8, 27649485: 27649485
27 ESCO2 NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs80359850 GRCh37 Chromosome 8, 27634429: 27634429
28 ESCO2 NM_001017420.2(ESCO2): c.894delAinsTTTTAT (p.Glu298Aspfs) indel Pathogenic rs797045565 GRCh37 Chromosome 8, 27637723: 27637723
29 ESCO2 NM_001017420.2(ESCO2): c.911dupA (p.Asn304Lysfs) duplication Pathogenic rs797045566 GRCh38 Chromosome 8, 27780223: 27780223

Expression for Roberts Syndrome

Search GEO for disease gene expression data for Roberts Syndrome.

Pathways for Roberts Syndrome

GO Terms for Roberts Syndrome

Cellular components related to Roberts Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.98 DDX11 ESCO1 ESCO2 INCENP NIPBL RAD21
2 nucleoplasm GO:0005654 9.7 DDX11 ESCO1 ESCO2 INCENP NIPBL RAD21
3 chromosome, centromeric region GO:0000775 9.5 INCENP RAD21 SMC3
4 nuclear matrix GO:0016363 9.46 RAD21 SMC3
5 chromosome GO:0005694 9.43 DDX11 ESCO1 ESCO2 INCENP RAD21 SMC3
6 lateral element GO:0000800 9.4 INCENP SMC3
7 chromocenter GO:0010369 9.37 ESCO2 INCENP
8 cohesin complex GO:0008278 9.26 RAD21 SMC3
9 chromatin GO:0000785 9.02 ESCO1 ESCO2 NIPBL RAD21 SMC3

Biological processes related to Roberts Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.73 DDX11 NIPBL RAD21 SMC3
2 cell division GO:0051301 9.69 INCENP RAD21 SMC3
3 DNA repair GO:0006281 9.65 DDX11 RAD21 SMC3
4 chromosome segregation GO:0007059 9.54 ESCO2 INCENP RAD21
5 double-strand break repair GO:0006302 9.49 ESCO2 RAD21
6 stem cell population maintenance GO:0019827 9.46 NIPBL SMC3
7 cell cycle GO:0007049 9.43 ESCO1 ESCO2 INCENP NIPBL RAD21 SMC3
8 protein localization to chromatin GO:0071168 9.4 ESCO2 RAD21
9 regulation of DNA replication GO:0006275 9.33 ESCO1 ESCO2 SMC3
10 positive regulation of sister chromatid cohesion GO:0045876 9.32 DDX11 RAD21
11 post-translational protein acetylation GO:0034421 9.26 ESCO1 ESCO2
12 sister chromatid cohesion GO:0007062 9.02 DDX11 ESCO1 INCENP RAD21 SMC3

Molecular functions related to Roberts Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.26 DDX11 NIPBL RAD21 SMC3
2 N-acetyltransferase activity GO:0008080 9.16 ESCO1 ESCO2
3 mediator complex binding GO:0036033 8.62 NIPBL SMC3

Sources for Roberts Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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