MCID: RBR001
MIFTS: 55

Roberts Syndrome

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

Aliases & Classifications for Roberts Syndrome

MalaCards integrated aliases for Roberts Syndrome:

Name: Roberts Syndrome 57 12 76 24 53 25 59 75 13 44 15
Roberts-Sc Phocomelia Syndrome 24 53 25 59 29 6 73
Pseudothalidomide Syndrome 24 53 25 59
Rbs 57 53 25 75
Long Bone Deficiencies Associated with Cleft Lip-Palate 57 12 53
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 53 25
Tetraphocomelia-Cleft Palate Syndrome 53 25
Sc Pseudothalidomide Syndrome 25 59
Appelt-Gerken-Lenz Syndrome 53 25
Sc Phocomelia Syndrome 53 25
Roberts Tetraphocomelia Syndrome 53
Roberts Syndrome/sc Phocomelia 53
Sc-Phocomelia Syndrome 24
Hemoglobin Sc Disease 73
Pseudothalidomide 24
Syndrome, Roberts 40
Sc Phocomelia 59
Sc Syndrome 25
Roberts-Sc 24
Sc Disease 55

Characteristics:

Orphanet epidemiological data:

59
roberts syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

57
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:

32
roberts syndrome:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Roberts Syndrome

NIH Rare Diseases : 53 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.

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 seizures 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 phenotypes are malar flattening and hypertelorism

Genetics Home Reference : 25 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 : 57 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 : 75 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).

Wikipedia : 76 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

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:

57
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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Skull:
craniosynostosis

AbdomenSpleen:
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:

59 32 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
4 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
5 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
6 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
8 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
9 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
10 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
11 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
12 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
15 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
16 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
17 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
18 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
19 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
20 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
21 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
22 polycystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000113
23 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
24 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
25 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
26 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
27 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
28 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
29 long penis 59 32 frequent (33%) Frequent (79-30%) HP:0000040
30 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
31 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
32 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
33 cleft upper lip 59 32 frequent (33%) Frequent (79-30%) HP:0000204
34 wrist flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001239
35 blue sclerae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000592
36 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
37 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
38 complete duplication of thumb phalanx 59 32 hallmark (90%) Very frequent (99-80%) HP:0009943
39 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
40 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
41 underdeveloped supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0009891
42 hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002984
43 phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009829
44 absent earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0000387
45 patellar aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006443
46 mesomelic arm shortening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005011
47 progressive flexion contractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0005876
48 knee flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0006380
49 midface capillary hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0007452
50 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846

UMLS symptoms related to Roberts Syndrome:


seizures

MGI Mouse Phenotypes related to Roberts Syndrome:

46
# 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 29 ESCO2

Anatomical Context for Roberts Syndrome

MalaCards organs/tissues related to Roberts Syndrome:

41
Bone, Kidney, Heart, Eye, Spleen, Uterus

Publications for Roberts Syndrome

Articles related to Roberts Syndrome:

(show top 50) (show all 95)
# Title Authors Year
1
A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome. ( 29690975 )
2018
2
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
3
Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome. ( 29084713 )
2017
4
Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome. ( 26729373 )
2016
5
Intrapartum diagnostic of Roberts syndrome - case presentation. ( 26193234 )
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
Expanding the mutation and clinical spectrum of Roberts syndrome. ( 26710928 )
2015
9
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome. ( 25320640 )
2014
10
The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2. ( 24864645 )
2014
11
Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction. ( 25054091 )
2014
12
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. ( 24098154 )
2013
13
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). ( 22694322 )
2012
14
A child with Roberts syndrome. ( 21777535 )
2011
15
Antenatal three-dimensional sonographic features of Roberts syndrome. ( 21533789 )
2011
16
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. ( 21637801 )
2011
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
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. ( 21490908 )
2010
21
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. ( 19738907 )
2009
22
Roberts syndrome: facial dysmorphology in a mildly affected case. ( 19707122 )
2009
23
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. ( 19533786 )
2009
24
Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. ( 18710560 )
2008
25
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. ( 18186147 )
2008
26
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. ( 18411254 )
2008
27
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome. ( 17708708 )
2007
28
Norman-Roberts syndrome: characterization of the phenotype in early fetal life. ( 17367103 )
2007
29
Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation. ( 18209617 )
2007
30
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. ( 16719272 )
2006
31
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. ( 16547991 )
2006
32
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. ( 16380922 )
2005
33
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
34
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. ( 15887093 )
2005
35
Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes. ( 15094189 )
2004
36
Report of two Turkish infants with Norman-Roberts syndrome. ( 15083694 )
2004
37
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? ( 12548750 )
2003
38
Roberts syndrome, normal cell division, and normal intelligence. ( 12040206 )
2002
39
A case of Roberts syndrome described in 1737. ( 11494971 )
2001
40
Roberts syndrome from the plastic surgeon's viewpoint. ( 11604661 )
2001
41
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. ( 10925387 )
2000
42
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. ( 11117361 )
2000
43
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. ( 10861718 )
2000
44
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. ( 9788553 )
1998
45
Cell proliferation rate and nuclear morphometry in Roberts syndrome. ( 9894798 )
1998
46
Craniosynostosis in Roberts syndrome. ( 9134301 )
1997
47
Tetra-amelia and splenogonadal fusion in Roberts syndrome. ( 9028456 )
1997
48
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. ( 9332660 )
1997
49
Roberts syndrome: first-trimester prenatal diagnosis. ( 8878291 )
1996
50
Prenatal diagnosis of Roberts syndrome: two new cases. ( 8650122 )
1996

Variations for Roberts Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 ESCO2 p.Trp539Gly VAR_022649 rs80359868

ClinVar genetic disease variations for Roberts Syndrome:

6
(show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 ESCO2 NM_001017420.2(ESCO2): c.1615T> G (p.Trp539Gly) single nucleotide variant Pathogenic rs80359868 GRCh37 Chromosome 8, 27657175: 27657175
2 ESCO2 NM_001017420.2(ESCO2): c.1615T> G (p.Trp539Gly) single nucleotide variant Pathogenic rs80359868 GRCh38 Chromosome 8, 27799658: 27799658
3 ESCO2 NM_001017420.2(ESCO2): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs80359849 GRCh37 Chromosome 8, 27634330: 27634330
4 ESCO2 NM_001017420.2(ESCO2): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs80359849 GRCh38 Chromosome 8, 27776813: 27776813
5 ESCO2 NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs) duplication Pathogenic rs80359852 GRCh37 Chromosome 8, 27634576: 27634576
6 ESCO2 NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs) duplication Pathogenic rs80359852 GRCh38 Chromosome 8, 27777059: 27777059
7 ESCO2 NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs) duplication Pathogenic rs80359853 GRCh37 Chromosome 8, 27634585: 27634585
8 ESCO2 NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs) duplication Pathogenic rs80359853 GRCh38 Chromosome 8, 27777068: 27777068
9 ESCO2 NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter) single nucleotide variant Pathogenic rs80359864 GRCh37 Chromosome 8, 27649485: 27649485
10 ESCO2 NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter) single nucleotide variant Pathogenic rs80359864 GRCh38 Chromosome 8, 27791968: 27791968
11 ESCO2 NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs80359850 GRCh37 Chromosome 8, 27634429: 27634429
12 ESCO2 NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs80359850 GRCh38 Chromosome 8, 27776912: 27776912
13 ESCO2 NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs) insertion Pathogenic rs80359859 GRCh37 Chromosome 8, 27645499: 27645500
14 ESCO2 NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs) insertion Pathogenic rs80359859 GRCh38 Chromosome 8, 27787982: 27787983
15 ESCO2 NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs) duplication Pathogenic rs80359859 GRCh37 Chromosome 8, 27645499: 27645499
16 ESCO2 NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs) duplication Pathogenic rs80359859 GRCh38 Chromosome 8, 27787982: 27787982
17 ESCO2 NM_001017420.2(ESCO2): c.1131+1G> A single nucleotide variant Pathogenic rs80359861 GRCh37 Chromosome 8, 27645520: 27645520
18 ESCO2 NM_001017420.2(ESCO2): c.1131+1G> A single nucleotide variant Pathogenic rs80359861 GRCh38 Chromosome 8, 27788003: 27788003
19 ESCO2 NM_001017420.2(ESCO2): c.1132-7A> G single nucleotide variant Pathogenic/Likely pathogenic rs80359862 GRCh37 Chromosome 8, 27646357: 27646357
20 ESCO2 NM_001017420.2(ESCO2): c.1132-7A> G single nucleotide variant Pathogenic/Likely pathogenic rs80359862 GRCh38 Chromosome 8, 27788840: 27788840
21 ESCO2 NM_001017420.2(ESCO2): c.1263+1G> C single nucleotide variant Pathogenic rs80359863 GRCh37 Chromosome 8, 27646496: 27646496
22 ESCO2 NM_001017420.2(ESCO2): c.1263+1G> C single nucleotide variant Pathogenic rs80359863 GRCh38 Chromosome 8, 27788979: 27788979
23 ESCO2 NM_001017420.2(ESCO2): c.1354-18G> A single nucleotide variant Pathogenic rs80359865 GRCh37 Chromosome 8, 27650167: 27650167
24 ESCO2 NM_001017420.2(ESCO2): c.1354-18G> A single nucleotide variant Pathogenic rs80359865 GRCh38 Chromosome 8, 27792650: 27792650
25 ESCO2 NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs) deletion Pathogenic rs80359866 GRCh37 Chromosome 8, 27650292: 27650293
26 ESCO2 NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs) deletion Pathogenic rs80359866 GRCh38 Chromosome 8, 27792775: 27792776
27 ESCO2 NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs) duplication Pathogenic rs80359867 GRCh37 Chromosome 8, 27657157: 27657157
28 ESCO2 NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs) duplication Pathogenic rs80359867 GRCh38 Chromosome 8, 27799640: 27799640
29 ESCO2 NM_001017420.2(ESCO2): c.1674-2A> G single nucleotide variant Pathogenic rs80359869 GRCh37 Chromosome 8, 27660821: 27660821
30 ESCO2 NM_001017420.2(ESCO2): c.1674-2A> G single nucleotide variant Pathogenic rs80359869 GRCh38 Chromosome 8, 27803304: 27803304
31 ESCO2 NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs) deletion Pathogenic rs80359844 GRCh37 Chromosome 8, 27634077: 27634078
32 ESCO2 NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs) deletion Pathogenic rs80359844 GRCh38 Chromosome 8, 27776560: 27776561
33 ESCO2 NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs) deletion Pathogenic rs80359845 GRCh37 Chromosome 8, 27634119: 27634122
34 ESCO2 NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs) deletion Pathogenic rs80359845 GRCh38 Chromosome 8, 27776602: 27776605
35 ESCO2 NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs) deletion Pathogenic rs80359846 GRCh37 Chromosome 8, 27634132: 27634136
36 ESCO2 NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs) deletion Pathogenic rs80359846 GRCh38 Chromosome 8, 27776615: 27776619
37 ESCO2 NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs) deletion Pathogenic rs80359847 GRCh37 Chromosome 8, 27634133: 27634134
38 ESCO2 NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs) deletion Pathogenic rs80359847 GRCh38 Chromosome 8, 27776616: 27776617
39 ESCO2 NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs) duplication Pathogenic rs80359848 GRCh37 Chromosome 8, 27634242: 27634242
40 ESCO2 NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs) duplication Pathogenic rs80359848 GRCh38 Chromosome 8, 27776725: 27776725
41 ESCO2 NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs) deletion Pathogenic rs80359851 GRCh37 Chromosome 8, 27634570: 27634571
42 ESCO2 NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs) deletion Pathogenic rs80359851 GRCh38 Chromosome 8, 27777053: 27777054
43 ESCO2 NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs) deletion Pathogenic rs80359854 GRCh37 Chromosome 8, 27634585: 27634585
44 ESCO2 NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs) deletion Pathogenic rs80359854 GRCh38 Chromosome 8, 27777068: 27777068
45 ESCO2 NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs) deletion Pathogenic rs80359855 GRCh37 Chromosome 8, 27634589: 27634590
46 ESCO2 NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs) deletion Pathogenic rs80359855 GRCh38 Chromosome 8, 27777072: 27777073
47 ESCO2 NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs) deletion Pathogenic rs80359856 GRCh37 Chromosome 8, 27637704: 27637707
48 ESCO2 NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs) deletion Pathogenic rs80359856 GRCh38 Chromosome 8, 27780187: 27780190
49 ESCO2 NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs) deletion Pathogenic rs80359857 GRCh37 Chromosome 8, 27637708: 27637709
50 ESCO2 NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs) deletion Pathogenic rs80359857 GRCh38 Chromosome 8, 27780191: 27780192

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 lateral element GO:0000800 9.4 INCENP SMC3
6 chromocenter GO:0010369 9.37 ESCO2 INCENP
7 chromatin GO:0000785 9.35 ESCO1 ESCO2 NIPBL RAD21 SMC3
8 cohesin complex GO:0008278 9.26 RAD21 SMC3
9 chromosome GO:0005694 9.17 DDX11 ESCO1 ESCO2 INCENP NIPBL RAD21

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 9.76 DDX11 NIPBL RAD21 SMC3
2 cell division GO:0051301 9.69 INCENP RAD21 SMC3
3 DNA repair GO:0006281 9.67 DDX11 RAD21 SMC3
4 chromosome segregation GO:0007059 9.58 ESCO2 INCENP RAD21
5 double-strand break repair GO:0006302 9.54 ESCO2 NIPBL RAD21
6 stem cell population maintenance GO:0019827 9.48 NIPBL SMC3
7 protein localization to chromatin GO:0071168 9.43 ESCO2 RAD21
8 cell cycle GO:0007049 9.43 ESCO1 ESCO2 INCENP NIPBL RAD21 SMC3
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
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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