RBS
MCID: RBR001
MIFTS: 62

Roberts Syndrome (RBS) malady

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

Summaries for Roberts Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 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 Cell cycle and Chromatin Regulation / Acetylation. 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:63 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

Description from OMIM:46 268300,269000

GeneReviews summary for rbs

Aliases & Classifications for Roberts Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

roberts syndrome 8 9 19 42 20 21 46 10 48
roberts-sc phocomelia syndrome 19 22 21 48 60
pseudothalidomide syndrome 19 42 21 48
sc phocomelia syndrome 21 46 10
long bone deficiencies associated with cleft lip-palate 8 42
hypomelia hypotrichosis facial hemangioma syndrome 42 21
sc pseudothalidomide syndrome 21 48
appelt-gerken-lenz syndrome 42 21
rbs 42 21
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 60
tetraphocomelia-cleft palate syndrome 21
sc-phocomelia syndrome 19
pseudothalidomide 19
sc phocomelia 48
sc syndrome 21
roberts-sc 19


External Ids:

Disease Ontology8 DOID:5325
MeSH34 C535687
NCIt39 C4681
SNOMED-CT56 48718006
MESH via Orphanet35 C535687
ICD10 via Orphanet26 Q73.8
SNOMED-CT via Orphanet57 48718006
UMLS via Orphanet61 C0392475

Related Diseases for Roberts Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Roberts Syndrome:



Diseases related to roberts syndrome

Clinical Features for Roberts Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

268300,269000

Clinical synopsis from OMIM:

268300

Symptoms:

48 (show all 48)
  • carpal bones fusion/synostosis
  • craniostenosis/craniosynostosis/sutural synostosis
  • wide space between 1st-2nd toes
  • simian crease/transverse/unique palmar crease
  • polyhydramnios
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • cleft lip and palate
  • small/hypoplastic/adherent/absent ear lobe
  • glaucoma
  • 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
  • multicystic kidney/renal dysplasia
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • clinodactyly of fifth finger
  • 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Roberts Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.3DDX11, RELN, RAD21, ESCO1, ESCO2, SMC1A
2MP:00107687.3SMC3, NIPBL, DDX11, RELN, INCENP, RAD21

Publications for Roberts Syndrome

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50PubMed
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Articles related to Roberts Syndrome:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. (24098154)
2013
2
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. (22044369)
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
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
6
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. (19533786)
2009
7
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. (18411254)
2008
8
Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation. (18209617)
2007
9
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. (16547991)
2006
10
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
11
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. (15887093)
2005
12
Report of two Turkish infants with Norman-Roberts syndrome. (15083694)
2004
13
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? (12548750)
2003
14
Roberts syndrome, normal cell division, and normal intelligence. (12040206)
2002
15
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. (10925387)
2000
16
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. (10861718)
2000
17
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. (11117361)
2000
18
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. (9332660)
1997
19
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
20
Roberts syndrome: first-trimester prenatal diagnosis. (8878291)
1996
21
Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. (8705416)
1996
22
Heterogeneity in Roberts syndrome. (7536395)
1995
23
Prenatal diagnosis of Roberts syndrome. (7875788)
1994
24
Roberts syndrome. (8264097)
1993
25
Norman-Roberts syndrome: clinical and molecular studies. (8368261)
1993
26
Roberts Syndrome (20301332)
1993
27
Oculomotor nerve cavernous angioma in a patient with Roberts syndrome. (8322177)
1993
28
Prenatal diagnosis of Roberts syndrome. (1494554)
1992
29
Roberts-SC phocomelia syndrome in a baboon (Papio anubis). (1460857)
1992
30
Somatic cell hybridization of Roberts syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes. (1763386)
1991
31
Roberts syndrome with normal cell division. (2012128)
1991
32
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. (1809233)
1991
33
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
34
A sibship with Roberts/SC phocomelia syndrome. (2240038)
1990
35
Roberts syndrome or "X-linked amelia"? (2260610)
1990
36
Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality. (2507910)
1989
37
Roberts-SC phocomelia syndrome with exencephaly. (2817778)
1989
38
Norman-Roberts syndrome. (3377013)
1988
39
Rhabdomyosarcoma in Roberts syndrome. (3349442)
1988
40
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. (3205861)
1988
41
Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers. (3474785)
1987
42
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? (6517054)
1984
43
Roberts'--SC phocomelia syndrome with cytogenetic findings. (7106776)
1982
44
Roberts syndrome: clinical and cytogenetic aspects. (7077622)
1982
45
The Roberts syndrome. (7152521)
1982
46
Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. (527250)
1979
47
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). (495649)
1979
48
The Roberts' syndrome. (631853)
1978
49
The SC phocomelia and the Roberts syndrome: nosologic aspects. (872834)
1977
50
The Roberts syndrome. (4151884)
1974

Genetic Variations for Roberts Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Roberts Syndrome:

62
id Symbol AA change Variation ID SNP ID
1ESCO2p.Trp539GlyVAR_022649

Expression for genes affiliated with Roberts Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Roberts Syndrome

Search GEO for disease gene expression data for Roberts Syndrome.

Pathways for genes affiliated with Roberts Syndrome

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29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with Roberts Syndrome

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GO Terms for genes affiliated with Roberts Syndrome

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16Gene Ontology
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Cellular components related to Roberts Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1nuclear meiotic cohesin complexGO:03499110.0SMC3, RAD21
2meiotic cohesin complexGO:03089310.0SMC3, SMC1A
3cohesin complexGO:0082789.6CDCA5, RAD21, SMC3
4chromatinGO:0007859.5ESCO1, ESCO2, SMC3
5lateral elementGO:0008009.5SMC3, INCENP
6chromosomeGO:0056949.3SMC3, SMC1A, RAD21, CDCA5
7spindle poleGO:0009229.1ZW10, DDX11, SGOL1, SMC3
8kinetochoreGO:0007768.6ZWINT, ZW10, INCENP, SGOL1, SMC1A
9condensed chromosome kinetochoreGO:0007778.6ZWINT, ZW10, INCENP, SGOL1, SMC1A
10chromosome, centromeric regionGO:0007758.4SMC3, SMC1A, SGOL1, RAD21, INCENP, CDCA5
11nucleoplasmGO:0056547.8NIPBL, DDX11, CDCA5, RAD21, ZNF143, ESCO1
12cytosolGO:0058297.3ZW10, CDCA5, INCENP, RAD21, SGOL1, SMC1A

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1post-translational protein acetylationGO:03442110.1ESCO2, ESCO1
2negative regulation of DNA endoreduplicationGO:03287610.0SMC3, SMC1A
3mitotic spindle organizationGO:00705210.0SMC3, SMC1A
4sister chromatid cohesionGO:00706210.0DDX11, SMC1A, SMC3
5regulation of DNA replicationGO:0062759.9SMC3, ESCO2, ESCO1
6stem cell maintenanceGO:0198279.8NIPBL, SMC1A, SMC3
7mitotic sister chromatid cohesionGO:0070649.7NIPBL, CDCA5, SMC1A
8mitotic cell cycle checkpointGO:0070939.6ZWINT, ZW10, SMC1A
9meiosisGO:0071269.6SMC3, SMC1A, ZW10
10mitotic sister chromatid segregationGO:0000709.5SMC1A, DDX11, ZW10, ZWINT
11mitotic metaphase plate congressionGO:0070809.2CDCA5, ZW10
12chromosome segregationGO:0070599.0INCENP, RAD21, SGOL1
13mitosisGO:0070678.6SMC3, SGOL1, RAD21, INCENP, CDCA5
14cell divisionGO:0513018.1ZWINT, ZW10, CDCA5, RAD21, SGOL1, SMC1A
15mitotic cell cycleGO:0002786.8SMC3, ZWINT, ZW10, NIPBL, CDCA5, INCENP

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

idNameGO IDScoreTop Affiliating Genes
1transferase activity, transferring acyl groupsGO:0167469.9ESCO2, ESCO1
2mediator complex bindingGO:0360339.7SMC3, SMC1A, NIPBL
3chromatin bindingGO:0036828.9NIPBL, CDCA5, SMC1A, SMC3
4protein bindingGO:0055155.4ZWINT, ZW10, NIPBL, DDX11, CDCA5, INCENP

Products for genes affiliated with Roberts Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet