RBS
MCID: RBR001
MIFTS: 62

Roberts Syndrome (RBS) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Roberts Syndrome

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NIH Rare Diseases:42 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 baller-gerold syndrome and fanconi's anemia, and has symptoms including microcephaly, brachycephaly/flat occiput and hypertelorism. An important gene associated with Roberts Syndrome is ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2), and among its related pathways are Mitotic Telophase/Cytokinesis and Cell cycle Spindle assembly and chromosome separation. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are cellular and mortality/aging.

Genetics Home Reference:21 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.

Wikipedia:65 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

Descriptions from OMIM:46 268300,269000

GeneReviews summary for rbs

Aliases & Classifications for Roberts Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Roberts Syndrome, Aliases & Descriptions:

Name: Roberts Syndrome 8 9 19 42 20 21 46 10 48
Roberts-Sc Phocomelia Syndrome 19 42 21 48 62
Sc Phocomelia Syndrome 42 21 46 10 62
Pseudothalidomide Syndrome 19 42 21 48
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 42 21 62
Sc Pseudothalidomide Syndrome 21 48 62
Appelt-Gerken-Lenz Syndrome 42 21 62
Long Bone Deficiencies Associated with Cleft Lip-Palate 8 42
Tetraphocomelia-Cleft Palate Syndrome 42 21
Roberts Tetraphocomelia Syndrome 42 62
 
Roberts Syndrome/sc Phocomelia 42 22
Sc Syndrome 21 62
Rbs 42 21
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
Sc-Phocomelia Syndrome 19
Hemoglobin Sc Disease 62
Pseudothalidomide 19
Sc Phocomelia 48
Roberts-Sc 19
Sc Disease 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
roberts syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:5325
MeSH34 C535687
NCIt39 C4681
SNOMED-CT57 48718006
MESH via Orphanet35 C535687
ICD10 via Orphanet26 Q73.8
UMLS via Orphanet63 C0392475

Related Diseases for Roberts Syndrome

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



Diseases related to roberts syndrome

Symptoms for Roberts Syndrome

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Symptoms by clinical synopsis from OMIM:

268300

Clinical features from OMIM:

268300,269000

Symptoms:

48 (show all 48)
  • microcephaly
  • brachycephaly/flat occiput
  • hypertelorism
  • flat cheek bones/malar hypoplasia
  • thin/hypoplastic ala nasi
  • phocomelia
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • upper limb transverse anomaly (excluding hand)
  • clinodactyly of fifth finger
  • thumb hypoplasia/aplasia/absence
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • bowed diaphysis/diaphyses/long bones
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • flat supraorbital ridge
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cataract/lens opacification
  • cleft lip and palate
  • small/hypoplastic/adherent/absent ear lobe
  • radioulnar synostosis
  • short hand/brachydactyly
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • congenital cardiac anomaly/malformation/cardiopathy
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • macropenis/megapenis/large penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • early death/lethality
  • stillbirth/neonatal death
  • prematurity
  • craniostenosis/craniosynostosis/sutural synostosis
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • blue sclerae
  • nystagmus
  • high vaulted/narrow palate
  • short neck
  • arthrogryposis
  • carpal bones fusion/synostosis
  • simian crease/transverse/unique palmar crease
  • syndactyly of fingers/interdigital palm
  • patella absent/abnormal (excluding luxation)
  • wide space between 1st-2nd toes
  • multicystic kidney/renal dysplasia
  • thrombocytopenia/thrombopenia
  • polyhydramnios

HPO human phenotypes related to Roberts Syndrome:

(show all 127)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 hypertelorism hallmark (90%) HP:0000316
3 underdeveloped nasal alae hallmark (90%) HP:0000430
4 intrauterine growth retardation hallmark (90%) HP:0001511
5 clinodactyly of the 5th finger hallmark (90%) HP:0004209
6 short stature hallmark (90%) HP:0004322
7 bowing of the long bones hallmark (90%) HP:0006487
8 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
9 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
10 upper limb phocomelia hallmark (90%) HP:0009813
11 cheekbone underdevelopment hallmark (90%) HP:0010669
12 abnormal hair quantity hallmark (90%) HP:0011362
13 cryptorchidism typical (50%) HP:0000028
14 enlarged penis typical (50%) HP:0000040
15 abnormality of female external genitalia typical (50%) HP:0000055
16 oral cleft typical (50%) HP:0000202
17 micrognathia typical (50%) HP:0000347
18 cataract typical (50%) HP:0000518
19 proptosis typical (50%) HP:0000520
20 brachydactyly syndrome typical (50%) HP:0001156
21 premature birth typical (50%) HP:0001622
22 malformation of the heart and great vessels typical (50%) HP:0002564
23 radioulnar synostosis typical (50%) HP:0002974
24 underdeveloped supraorbital ridges typical (50%) HP:0009891
25 aplasia/hypoplasia of the earlobes typical (50%) HP:0009906
26 cognitive impairment typical (50%) HP:0100543
27 multicystic kidney dysplasia occasional (7.5%) HP:0000003
28 abnormality of the palate occasional (7.5%) HP:0000174
29 short neck occasional (7.5%) HP:0000470
30 glaucoma occasional (7.5%) HP:0000501
31 blue sclerae occasional (7.5%) HP:0000592
32 nystagmus occasional (7.5%) HP:0000639
33 single transverse palmar crease occasional (7.5%) HP:0000954
34 craniosynostosis occasional (7.5%) HP:0001363
35 polyhydramnios occasional (7.5%) HP:0001561
36 sandal gap occasional (7.5%) HP:0001852
37 thrombocytopenia occasional (7.5%) HP:0001873
38 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
39 synostosis of carpal bones occasional (7.5%) HP:0005048
40 finger syndactyly occasional (7.5%) HP:0006101
41 patellar aplasia occasional (7.5%) HP:0006443
42 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
43 autosomal recessive inheritance HP:0000007
44 cryptorchidism HP:0000028
45 enlarged penis HP:0000040
46 hypospadias HP:0000047
47 clitoromegaly HP:0000057
48 horseshoe kidney HP:0000085
49 polycystic kidney dysplasia HP:0000113
50 cleft palate HP:0000175
51 cleft upper lip HP:0000204
52 high palate HP:0000218
53 hydrocephalus HP:0000238
54 brachycephaly HP:0000248
55 microcephaly HP:0000252
56 malar flattening HP:0000272
57 hypertelorism HP:0000316
58 micrognathia HP:0000347
59 posteriorly rotated ears HP:0000358
60 low-set ears HP:0000369
61 absent earlobe HP:0000387
62 underdeveloped nasal alae HP:0000430
63 wide nasal bridge HP:0000431
64 short neck HP:0000470
65 cystic hygroma HP:0000476
66 downslanted palpebral fissures HP:0000494
67 cataract HP:0000518
68 proptosis HP:0000520
69 microphthalmos HP:0000568
70 shallow orbits HP:0000586
71 blue sclerae HP:0000592
72 cleft eyelid HP:0000625
73 bicornuate uterus HP:0000813
74 cafe-au-lait spot HP:0000957
75 biliary tract abnormality HP:0001080
76 syndactyly HP:0001159
77 abnormality of the metacarpal bones HP:0001163
78 oligodactyly (hands) HP:0001180
79 wrist flexion contracture HP:0001239
80 intellectual disability HP:0001249
81 craniosynostosis HP:0001363
82 polyhydramnios HP:0001561
83 ventricular septal defect HP:0001629
84 defect in the atrial septum HP:0001631
85 patent ductus arteriosus HP:0001643
86 accessory spleen HP:0001747
87 talipes equinovalgus HP:0001772
88 elbow flexion contracture HP:0002987
89 premature separation of centromeric heterochromatin HP:0003616
90 knee flexion contracture HP:0006380
91 ankle contracture HP:0006466
92 cranial nerve paralysis HP:0006824
93 frontal encephalocele HP:0007330
94 midface capillary hemangioma HP:0007452
95 opacification of the corneal stroma HP:0007759
96 sparse hair HP:0008070
97 enlarged labia minora HP:0008683
98 severe intrauterine growth retardation HP:0008846
99 postnatal growth retardation HP:0008897
100 radial deviation of finger HP:0009466
101 phocomelia HP:0009829
102 narrow naris HP:0009933
103 clinodactyly HP:0030084
104 autosomal recessive inheritance HP:0000007
105 cleft upper lip HP:0000204
106 microcephaly HP:0000252
107 micrognathia HP:0000347
108 posteriorly rotated ears HP:0000358
109 underdeveloped nasal alae HP:0000430
110 blue sclerae HP:0000592
111 seizures HP:0001250
112 global developmental delay HP:0001263
113 intrauterine growth retardation HP:0001511
114 aortic valve stenosis HP:0001650
115 fair hair HP:0002286
116 wormian bones HP:0002645
117 hip contracture HP:0003273
118 premature separation of centromeric heterochromatin HP:0003616
119 absent radius HP:0003974
120 absent ulna HP:0003982
121 short stature HP:0004322
122 knee flexion contracture HP:0006380
123 midface capillary hemangioma HP:0007452
124 sparse hair HP:0008070
125 radial deviation of finger HP:0009466
126 short thumb HP:0009778
127 clinodactyly HP:0030084

Drugs & Therapeutics for Roberts Syndrome

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Drug clinical trials:

Search ClinicalTrials for Roberts Syndrome

Search NIH Clinical Center for Roberts Syndrome

Genetic Tests for Roberts Syndrome

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Genetic tests related to Roberts Syndrome:

id Genetic test Affiliating Genes
1 Roberts Syndrome20 ESCO2
2 Roberts-Sc Phocomelia Syndrome22

Anatomical Context for Roberts Syndrome

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MalaCards organs/tissues related to Roberts Syndrome:

32
Bone, Kidney, Heart, Testes, Eye

Animal Models for Roberts Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Roberts Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5NIPBL, ESCO1, ESCO2, SMC3, PIK3CA, DDX11
2MP:00107687.7NIPBL, DDX11, PIK3CA, INCENP, SMC3, ESCO2

Publications for Roberts Syndrome

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Articles related to Roberts Syndrome:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2. (24864645)
2014
2
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome. (25320640)
2014
3
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). (22694322)
2012
4
A child with Roberts syndrome. (21777535)
2011
5
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. (21637801)
2011
6
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. (20101700)
2010
7
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
8
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. (21490908)
2010
9
Roberts syndrome: facial dysmorphology in a mildly affected case. (19707122)
2009
10
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. (19738907)
2009
11
Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. (18710560)
2008
12
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. (16547991)
2006
13
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. (16719272)
2006
14
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (16380922)
2005
15
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
16
Report of two Turkish infants with Norman-Roberts syndrome. (15083694)
2004
17
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? (12548750)
2003
18
Roberts syndrome, normal cell division, and normal intelligence. (12040206)
2002
19
Roberts syndrome from the plastic surgeon's viewpoint. (11604661)
2001
20
A case of Roberts syndrome described in 1737. (11494971)
2001
21
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. (10925387)
2000
22
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. (10861718)
2000
23
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. (11117361)
2000
24
Cell proliferation rate and nuclear morphometry in Roberts syndrome. (9894798)
1998
25
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. (9788553)
1998
26
Tetra-amelia and splenogonadal fusion in Roberts syndrome. (9028456)
1997
27
Craniosynostosis in Roberts syndrome. (9134301)
1997
28
Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. (9039848)
1996
29
Roberts syndrome: first-trimester prenatal diagnosis. (8878291)
1996
30
Prenatal diagnosis of Roberts syndrome: two new cases. (8650122)
1996
31
Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. (8039795)
1994
32
Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors. (8211379)
1993
33
Roberts syndrome. (8264097)
1993
34
Roberts syndrome: a review of 100 cases and a new rating system for severity. (8291532)
1993
35
Norman-Roberts syndrome: clinical and molecular studies. (8368261)
1993
36
Roberts Syndrome (20301332)
1993
37
Oculomotor nerve cavernous angioma in a patient with Roberts syndrome. (8322177)
1993
38
Prenatal diagnosis of Roberts syndrome. (1494554)
1992
39
Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? (1605264)
1992
40
Somatic cell hybridization of Roberts syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes. (1763386)
1991
41
Roberts syndrome with normal cell division. (2012128)
1991
42
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. (2055135)
1991
43
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
44
Premature centromere separation and the prenatal diagnosis of Roberts syndrome. (2668921)
1989
45
Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality. (2507910)
1989
46
Norman-Roberts syndrome. (3377013)
1988
47
Roberts syndrome and SC phocomelia. A single genetic entity. (3568444)
1987
48
Premature centromere splitting in a presumptive mild form of Roberts syndrome. (6698562)
1984
49
Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. (6859118)
1983
50
Roberts syndrome: clinical and cytogenetic aspects. (7077622)
1982

Variations for Roberts Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1ESCO2p.Trp539GlyVAR_022649

Clinvar genetic disease variations for Roberts Syndrome:

6 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
2PIK3CANM_006218.2(PIK3CA): c.3140A> T (p.His1047Leu)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
3ESCO2NM_001017420.2(ESCO2): c.1615T> G (p.Trp539Gly)single nucleotide variantPathogenicrs80359868GRCh37Chr 8, 27657175: 27657175
4ESCO2NM_001017420.2(ESCO2): c.505C> T (p.Arg169Ter)single nucleotide variantPathogenicrs80359849GRCh37Chr 8, 27634330: 27634330
5ESCO2NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs)duplicationPathogenicrs80359852GRCh37Chr 8, 27634576: 27634577
6ESCO2NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs)duplicationPathogenicrs80359853GRCh37Chr 8, 27634585: 27634586
7ESCO2NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter)single nucleotide variantPathogenicrs80359864GRCh37Chr 8, 27649485: 27649485
8ESCO2NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter)single nucleotide variantPathogenicrs80359850GRCh37Chr 8, 27634429: 27634429
9ESCO2NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs)insertionPathogenicrs80359859GRCh37Chr 8, 27645499: 27645500
10ESCO2NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs)duplicationPathogenicrs80359859GRCh37Chr 8, 27645499: 27645500
11ESCO2NM_001017420.2(ESCO2): c.1131+1G> Asingle nucleotide variantPathogenicrs80359861GRCh37Chr 8, 27645520: 27645520
12ESCO2NM_001017420.2(ESCO2): c.1132-7A> Gsingle nucleotide variantPathogenicrs80359862GRCh37Chr 8, 27646357: 27646357
13ESCO2NM_001017420.2(ESCO2): c.1263+1G> Csingle nucleotide variantPathogenicrs80359863GRCh37Chr 8, 27646496: 27646496
14ESCO2NM_001017420.2(ESCO2): c.1354-18G> Asingle nucleotide variantPathogenicrs80359865GRCh37Chr 8, 27650167: 27650167
15ESCO2NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs)deletionPathogenicrs80359866GRCh37Chr 8, 27650292: 27650293
16ESCO2NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs)duplicationPathogenicrs80359867GRCh37Chr 8, 27657157: 27657158
17ESCO2NM_001017420.2(ESCO2): c.1674-2A> Gsingle nucleotide variantPathogenicrs80359869GRCh37Chr 8, 27660821: 27660821
18ESCO2NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs)deletionPathogenicrs80359844GRCh37Chr 8, 27634077: 27634078
19ESCO2NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs)deletionPathogenicrs80359845GRCh37Chr 8, 27634119: 27634122
20ESCO2NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs)deletionPathogenicrs80359846GRCh37Chr 8, 27634132: 27634136
21ESCO2NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs)deletionPathogenicrs80359847GRCh37Chr 8, 27634133: 27634134
22ESCO2NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs)duplicationPathogenicrs80359848GRCh37Chr 8, 27634242: 27634243
23ESCO2NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs)deletionPathogenicrs80359851GRCh37Chr 8, 27634570: 27634571
24ESCO2NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs)deletionPathogenicrs80359854GRCh37Chr 8, 27634585: 27634585
25ESCO2NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs)deletionPathogenicrs80359855GRCh37Chr 8, 27634589: 27634590
26ESCO2NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs)deletionPathogenicrs80359856GRCh37Chr 8, 27637704: 27637707
27ESCO2NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs)deletionPathogenicrs80359857GRCh37Chr 8, 27637708: 27637709
28ESCO2NM_001017420.2(ESCO2): c.955+2_955+5delTAAGdeletionPathogenicrs80359858GRCh37Chr 8, 27637786: 27637789
29PIK3CANM_006218.2(PIK3CA): c.1624G> A (p.Glu542Lys)single nucleotide variantPathogenicrs121913273GRCh37Chr 3, 178936082: 178936082
30PIK3CANM_006218.2(PIK3CA): c.1258T> C (p.Cys420Arg)single nucleotide variantPathogenicrs121913272GRCh37Chr 3, 178927980: 178927980

Expression for genes affiliated with Roberts Syndrome

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Expression patterns in normal tissues for genes affiliated with Roberts Syndrome

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Pathways for genes affiliated with Roberts Syndrome

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Pathways related to Roberts Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6NIPBL, RAD21, SMC3
29.5RAD21, SMC3, ZW10
3
Show member pathways
9.1RAD21, SMC3, INCENP
4
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.5SMC3, ESCO2, ESCO1, RAD21, CDCA5
5
Show member pathways
7.8ZWINT, ZW10, INCENP, SMC3, RAD21, CDCA5
6
Show member pathways
7.8ZWINT, ZW10, INCENP, SMC3, RAD21, CDCA5
7
Show member pathways
6.6NIPBL, ZWINT, ZW10, INCENP, SMC3, ESCO2

Compounds for genes affiliated with Roberts Syndrome

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GO Terms for genes affiliated with Roberts Syndrome

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Cellular components related to Roberts Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1nuclear meiotic cohesin complexGO:03499110.1RAD21, SMC3
2cohesin complexGO:0082789.6CDCA5, RAD21, SMC3
3spindle poleGO:0009229.6SMC3, ZW10, DDX11
4chromatinGO:0007859.5SMC3, ESCO2, ESCO1
5chromosomeGO:0056949.5SMC3, RAD21, CDCA5
6lateral elementGO:0008009.3INCENP, SMC3
7kinetochoreGO:0007769.1INCENP, ZW10, ZWINT
8condensed chromosome kinetochoreGO:0007779.0INCENP, ZW10, ZWINT
9chromosome, centromeric regionGO:0007758.8INCENP, SMC3, RAD21, CDCA5
10nucleolusGO:0057308.6CDCA5, RAD21, SMC3, ABT1, DDX11
11nucleoplasmGO:0056547.7NIPBL, DDX11, SMC3, ESCO2, ESCO1, ZNF143
12nucleusGO:0056347.3DDX11, ZWINT, ZW10, ABT1, SMC3, ESCO2
13cytosolGO:0058297.2ZWINT, ZW10, PIK3CA, INCENP, SMC3, RAD21

Biological processes related to Roberts Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1sister chromatid cohesionGO:00706210.1SMC3, DDX11
2stem cell maintenanceGO:0198279.9NIPBL, SMC3
3post-translational protein acetylationGO:0344219.9ESCO1, ESCO2
4mitotic sister chromatid cohesionGO:0070649.8NIPBL, CDCA5
5mitotic cell cycle checkpointGO:0070939.8ZW10, ZWINT
6mitotic metaphase plate congressionGO:0070809.7ZW10, CDCA5
7mitotic sister chromatid segregationGO:0000709.7ZW10, ZWINT, DDX11
8meiotic nuclear divisionGO:0071269.7SMC3, ZW10
9regulation of DNA replicationGO:0062759.6SMC3, ESCO2, ESCO1
10double-strand break repairGO:0063029.4CDCA5, RAD21
11chromosome segregationGO:0070599.4RAD21, INCENP
12regulation of transcription from RNA polymerase II promoterGO:0063579.3ABT1, ZNF143, RAD21
13mitosisGO:0070678.8INCENP, SMC3, RAD21, CDCA5
14mitotic cell cycleGO:0002786.9NIPBL, ZWINT, ZW10, INCENP, SMC3, ESCO2

Molecular functions related to Roberts Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mediator complex bindingGO:0360339.8SMC3, NIPBL
2chromatin bindingGO:0036829.3NIPBL, CDCA5, SMC3
3transferase activity, transferring acyl groupsGO:0167469.3ESCO1, ESCO2
4protein bindingGO:0055155.9NIPBL, DDX11, ZWINT, ZW10, ABT1, PIK3CA

Products for genes affiliated with Roberts Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Roberts Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet