RBS
MCID: RBR001
MIFTS: 60

Roberts Syndrome (RBS) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases, Cardiovascular diseases categories

Summaries for Roberts Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Roberts Syndrome, also known as roberts-sc phocomelia syndrome, is related to baller-gerold syndrome and fanconi's anemia, and has symptoms including carpal bones fusion/synostosis, craniostenosis/craniosynostosis/sutural synostosis and wide space between 1st-2nd toes. 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.

Wikipedia:66 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

Description from OMIM:48 268300,269000

GeneReviews summary for rbs

Aliases & Classifications for Roberts Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 23GTR, 46Novoseek, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
roberts syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

roberts syndrome 9 10 20 44 21 22 48 11 50
roberts-sc phocomelia syndrome 20 44 22 50 63
pseudothalidomide syndrome 20 44 22 50
sc phocomelia syndrome 44 22 48 11
long bone deficiencies associated with cleft lip-palate 9 44
hypomelia hypotrichosis facial hemangioma syndrome 44 22
tetraphocomelia-cleft palate syndrome 44 22
roberts syndrome/sc phocomelia 44 23
sc pseudothalidomide syndrome 22 50
appelt-gerken-lenz syndrome 44 22
rbs 44 22
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 63
roberts tetraphocomelia syndrome 44
sc-phocomelia syndrome 20
pseudothalidomide 20
sc phocomelia 50
sc syndrome 22
sc disease 46
roberts-sc 20


External Ids:

Disease Ontology9 DOID:5325
NCIt41 C4681
MeSH36 C535687
SNOMED-CT59 48718006
MESH via Orphanet37 C535687
ICD10 via Orphanet27 Q73.8
SNOMED-CT via Orphanet60 48718006
UMLS via Orphanet64 C0392475

Related Diseases for Roberts Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

268300

Clinical features from OMIM:

268300,269000

Symptoms:

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

Drugs & Therapeutics for Roberts Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Roberts Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Roberts Syndrome:

id Genetic test Affiliating Genes
1 Roberts Syndrome21 ESCO2
2 Roberts-Sc Phocomelia Syndrome23

Anatomical Context for Roberts Syndrome

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34MalaCards
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MalaCards organs/tissues related to Roberts Syndrome:

34
Bone, Kidney, Heart, Testes, Eye

Animal Models for Roberts Syndrome or affiliated genes

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Publications for Roberts Syndrome

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53PubMed
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Articles related to Roberts Syndrome:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). (22694322)
2012
2
A child with Roberts syndrome. (21777535)
2011
3
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. (21637801)
2011
4
Antenatal three-dimensional sonographic features of Roberts syndrome. (21533789)
2011
5
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. (20101700)
2010
6
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
7
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. (21490908)
2010
8
Roberts syndrome: facial dysmorphology in a mildly affected case. (19707122)
2009
9
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. (19738907)
2009
10
Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. (18710560)
2008
11
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. (16547991)
2006
12
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. (16719272)
2006
13
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (16380922)
2005
14
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
15
Report of two Turkish infants with Norman-Roberts syndrome. (15083694)
2004
16
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? (12548750)
2003
17
Roberts syndrome, normal cell division, and normal intelligence. (12040206)
2002
18
Roberts syndrome from the plastic surgeon's viewpoint. (11604661)
2001
19
A case of Roberts syndrome described in 1737. (11494971)
2001
20
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. (10925387)
2000
21
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. (10861718)
2000
22
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. (11117361)
2000
23
Cell proliferation rate and nuclear morphometry in Roberts syndrome. (9894798)
1998
24
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. (9788553)
1998
25
Tetra-amelia and splenogonadal fusion in Roberts syndrome. (9028456)
1997
26
Craniosynostosis in Roberts syndrome. (9134301)
1997
27
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
28
Roberts syndrome: first-trimester prenatal diagnosis. (8878291)
1996
29
Prenatal diagnosis of Roberts syndrome: two new cases. (8650122)
1996
30
Heterogeneity in Roberts syndrome. (7536395)
1995
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Roberts Syndrome:

65
id Symbol AA change Variation ID SNP ID
1ESCO2p.Trp539GlyVAR_022649

Clinvar genetic disease variations for Roberts Syndrome:

1 (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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 56Reactome, 61Thomson Reuters, 5Cell Signaling Technology, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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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 Degradation39
Immune response Antigen presentation by MHC class I61
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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17Gene Ontology
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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:0009229.5SMC3, ZW10, DDX11
4chromosomeGO:0056949.5SMC3, RAD21, CDCA5
5chromatinGO:0007859.5SMC3, ESCO2, ESCO1
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
12cytosolGO:0058297.5ZWINT, ZW10, INCENP, SMC3, RAD21, CDCA5
13nucleusGO:0056347.4DDX11, ZWINT, ZW10, ABT1, SMC3, ESCO2

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:0344219.8ESCO1, 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:0002786.8NIPBL, ZWINT, ZW10, INCENP, SMC3, ESCO2

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

idNameGO IDScoreTop Affiliating Genes
1mediator complex bindingGO:0360339.9NIPBL, SMC3
2protein N-terminus bindingGO:0474859.8NIPBL, ZWINT
3transferase activity, transferring acyl groupsGO:0167469.5ESCO2, ESCO1
4chromatin bindingGO:0036829.0NIPBL, CDCA5, SMC3
5protein bindingGO:0055156.3NIPBL, DDX11, ZWINT, ZW10, ABT1, INCENP

Products for genes affiliated with Roberts Syndrome

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  • Antibodies
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Sources for Roberts Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet