RBS
MCID: RBR001
MIFTS: 60

Roberts Syndrome (RBS) malady

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

Aliases & Classifications for Roberts Syndrome

Aliases & Descriptions for Roberts Syndrome:

Name: Roberts Syndrome 54 12 23 50 24 25 56 66 13 42 14
Roberts-Sc Phocomelia Syndrome 23 50 24 25 56 69
Pseudothalidomide Syndrome 23 50 24 25 56
Sc Phocomelia Syndrome 50 24 25
Rbs 50 25 66
Long Bone Deficiencies Associated with Cleft Lip-Palate 12 50
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 50 25
Tetraphocomelia-Cleft Palate Syndrome 50 25
Roberts Syndrome/sc Phocomelia 50 29
Sc Pseudothalidomide Syndrome 25 56
Appelt-Gerken-Lenz Syndrome 50 25
Sc-Phocomelia Syndrome 23 24
Roberts-Sc 23 24
Roberts Tetraphocomelia Syndrome 50
Pseudothalidomide 23
Sc Phocomelia 56
Sc Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
roberts syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 268300
Disease Ontology 12 DOID:5325
MeSH 42 C535687
NCIt 47 C4681
SNOMED-CT 64 48718006
Orphanet 56 ORPHA3103
MESH via Orphanet 43 C535687
UMLS via Orphanet 70 C0392475
ICD10 via Orphanet 34 Q73.8
UMLS 69 C0392475

Summaries for Roberts Syndrome

NIH Rare Diseases : 50 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 sc phocomelia syndrome and retinoblastoma, 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 Mitotic Metaphase and Anaphase and Cell Cycle, Mitotic. The drugs Simvastatin and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotype is Increased viability with MLN4924 (a NAE inhibitor).

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.

UniProtKB/Swiss-Prot : 66 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 : 71 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

Description from OMIM: 268300
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 by clinical synopsis from OMIM:

268300

Clinical features from OMIM:

268300

Human phenotypes related to Roberts Syndrome:

56 32 (show top 50) (show all 86)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Very frequent (99-80%) HP:0000272
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 short neck 56 32 Occasional (29-5%) HP:0000470
4 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
5 high palate 56 32 Occasional (29-5%) HP:0000218
6 nystagmus 56 32 Occasional (29-5%) HP:0000639
7 intellectual disability 56 32 Frequent (79-30%) HP:0001249
8 cataract 56 32 Frequent (79-30%) HP:0000518
9 global developmental delay 56 32 Frequent (79-30%) HP:0001263
10 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
11 microcephaly 56 32 Very frequent (99-80%) HP:0000252
12 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
13 cleft palate 56 32 Frequent (79-30%) HP:0000175
14 micrognathia 56 32 Frequent (79-30%) HP:0000347
15 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
16 postnatal growth retardation 56 32 Very frequent (99-80%) HP:0008897
17 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
18 underdeveloped nasal alae 56 32 Very frequent (99-80%) HP:0000430
19 microphthalmia 56 32 Occasional (29-5%) HP:0000568
20 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
21 polycystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000113
22 glaucoma 56 32 Occasional (29-5%) HP:0000501
23 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
24 sandal gap 56 32 Occasional (29-5%) HP:0001852
25 bilateral single transverse palmar creases 56 32 Occasional (29-5%) HP:0007598
26 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
27 radioulnar synostosis 56 32 Frequent (79-30%) HP:0002974
28 long penis 56 32 Frequent (79-30%) HP:0000040
29 proptosis 56 32 Frequent (79-30%) HP:0000520
30 craniosynostosis 56 32 Occasional (29-5%) HP:0001363
31 synostosis of carpal bones 56 32 Occasional (29-5%) HP:0005048
32 external ear malformation 56 32 Frequent (79-30%) HP:0008572
33 cleft upper lip 56 32 Frequent (79-30%) HP:0000204
34 wrist flexion contracture 56 32 Occasional (29-5%) HP:0001239
35 blue sclerae 56 32 Occasional (29-5%) HP:0000592
36 proximal placement of thumb 56 32 Very frequent (99-80%) HP:0009623
37 sparse hair 56 32 Very frequent (99-80%) HP:0008070
38 complete duplication of thumb phalanx 56 32 Very frequent (99-80%) HP:0009943
39 aplasia/hypoplasia of the thumb 56 32 Very frequent (99-80%) HP:0009601
40 premature birth 56 32 Frequent (79-30%) HP:0001622
41 underdeveloped supraorbital ridges 56 32 Frequent (79-30%) HP:0009891
42 hypoplasia of the radius 56 32 Very frequent (99-80%) HP:0002984
43 phocomelia 56 32 Very frequent (99-80%) HP:0009829
44 absent earlobe 56 32 Frequent (79-30%) HP:0000387
45 patellar aplasia 56 32 Occasional (29-5%) HP:0006443
46 mesomelic arm shortening 56 32 Very frequent (99-80%) HP:0005011
47 progressive flexion contractures 56 32 Occasional (29-5%) HP:0005876
48 knee flexion contracture 56 32 Occasional (29-5%) HP:0006380
49 midface capillary hemangioma 56 32 Frequent (79-30%) HP:0007452
50 severe intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0008846

UMLS symptoms related to Roberts Syndrome:


seizures

GenomeRNAi Phenotypes related to Roberts Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 INCENP RAD21 SMC3

Drugs & Therapeutics for Roberts Syndrome

Drugs for Roberts Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 659)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
2
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
3
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 154598-52-4 64139
4
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
5
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Adenosine Approved, Investigational Phase 4,Phase 2,Phase 1 58-61-7 60961
8
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
9
Maraviroc Approved, Investigational Phase 4,Phase 3,Phase 2 376348-65-1 3002977
10
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
11
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
12
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
13
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
14
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
15
Mannitol Approved, Investigational Phase 4,Phase 3 69-65-8 453 6251
16
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
17
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2 33069-62-4 36314
18
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
19
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
20
Enalaprilat Approved Phase 4 76420-72-9 6917719
21
Donepezil Approved Phase 4 120014-06-4 3152
22
Adalimumab Approved Phase 4 331731-18-1 16219006
23
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
24
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
25
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
26
Everolimus Approved Phase 4 159351-69-6 6442177
27
Eszopiclone Approved Phase 4 138729-47-2 969472
28
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
29
Interferon beta-1b Approved Phase 4 145155-23-3
30
Acetylcholine Approved Phase 4 51-84-3 187
31
Apixaban Approved Phase 4 503612-47-3 10182969
32
Nifedipine Approved Phase 4 21829-25-4 4485
33
Methazolamide Approved Phase 4 554-57-4 4100
34
Lidocaine Approved, Vet_approved Phase 4,Phase 3 137-58-6 3676
35
Ivermectin Approved, Vet_approved Phase 4 70288-86-7 6474909 46936176
36
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
37
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
38
Desirudin Approved Phase 4 120993-53-5
39
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 11103-57-4, 68-26-8 445354
40
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3 67-97-0 6221 10883523 5280795
41
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
42
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
44
Menadione Approved, Nutraceutical Phase 4,Phase 3 58-27-5 4055
45
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
46
Phytonadione Approved, Nutraceutical Phase 4,Phase 3 84-80-0 4812 5284607
47
Resveratrol Experimental, Investigational Phase 4 501-36-0, 955365-80-7 24856436 445154
48 vitamin d Phase 4,Phase 3
49 insulin Phase 4,Phase 3,Phase 2,Phase 1
50 Analgesics Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 695)
id Name Status NCT ID Phase
1 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
2 Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure Unknown status NCT01873521 Phase 4
3 Mycophenolate Mofetil in Antiretroviral Naïve Patients 2 (MAN2 Study) Unknown status NCT00120419 Phase 4
4 Effect of Sitagliptin and an ACE Inhibitor on Blood Pressure in Metabolic Syndrome Completed NCT00666848 Phase 4
5 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
6 Improving the Management of Acute Coronary Syndromes in the Emergency Department Completed NCT01563250 Phase 4
7 Comparative Effects of Chronic Treatment With Olanzapine and Risperidone on Glucose and Lipid Metabolism Completed NCT00287820 Phase 4
8 Modulation of Plasmacytoid Dendritic Cell Function in Multiple Sclerosis Completed NCT00468182 Phase 4
9 Providing Rapid Out of Hospital Acute Cardiovascular Treatment (PROACT) Completed NCT01634425 Phase 4
10 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
11 Intracoronary Stenting and Angiographic Results: Optimizing Treatment of Drug Eluting Stent In-Stent Restenosis 4 Completed NCT01632371 Phase 4
12 Efficacy of Optive Versus Systane Concomitant With Restasis (Cyclosporine A) for the Treatment of Dry Eye Symptoms Completed NCT00399061 Phase 4
13 Usefulness of Dexmedetomidine on Post-operative Pain Management in Patients With Interstitial Cystitis Completed NCT01195116 Phase 4
14 The Impact of Arousal Threshold in Obstructive Sleep Apnea Completed NCT02264353 Phase 4
15 Medtronic Genetic Arrhythmia Markers for Early Detection (GAME Study) Completed NCT00664807 Phase 4
16 Eszopiclone in the Treatment of Insomnia and Fibromyalgia Completed NCT00392041 Phase 4
17 Cardiac Resynchronisation Therapy in Combination With Overdrive Pacing in the Treatment of Central Sleep Apnea in CHF Completed NCT00551499 Phase 4
18 Efficacy and Safety of Adalimumab in Patients With Psoriasis and Obstructive Sleep Apnea Completed NCT01181570 Phase 4
19 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
20 Raltegravir Use as Nonoccupational Postexposure Prophylaxis (NPEP) in Men Who Have Sex With Men Completed NCT01087840 Phase 4
21 IMPAACT 1077HS: Examining Benefits of HAART Continuation in Postpartum Women Completed NCT00955968 Phase 4
22 Maraviroc as an Immunomodulatory Drug for Antiretroviral-treated HIV Infected Patients Exhibiting Immunologic Failure Completed NCT00735072 Phase 4
23 The Effect on EPCs by Statin Loading in "All Comers" With an ACS Recruiting NCT02957162 Phase 4
24 Intravesicular Onabotulinumtoxin A in Interstitial Cystitis Recruiting NCT02297100 Phase 4
25 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4
26 Effects of Simvastatin and Micronized Trans-resveratrol Treatment on Polycystic Ovary Syndrome (PCOS) Patients Recruiting NCT02766803 Phase 4
27 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4
28 Optimum Thiamine Intervention (OpTIn) Trial Recruiting NCT02788552 Phase 4
29 The Efficacy of Tongue Stabilizing Device in Patients With Obstructive Sleep Apnea Recruiting NCT02329925 Phase 4
30 Three New Ideas to Protect Special Forces From the Stress of High Altitude Active, not recruiting NCT02463357 Phase 4
31 Syncope: Pacing or Recording in the Later Years Active, not recruiting NCT01423994 Phase 4
32 Fractional Flow Reserve Versus Angiographically Guided Management to Optimise Outcomes in Unstable Coronary Syndromes Active, not recruiting NCT01764334 Phase 4
33 The Impact of Venlafaxine on Apnea Hypopnea Index in Obstructive Sleep Apnea Active, not recruiting NCT02714400 Phase 4
34 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy Not yet recruiting NCT03052998 Phase 4
35 Handling Oxygenation Targets in the Intensive Care Unit Not yet recruiting NCT03174002 Phase 4
36 Trial of Analgesia With Lidocaine or Extended-release Oxycodone for Neuropathic Pain Treatment in Multiple Sclerosis Terminated NCT00414453 Phase 4
37 A Comparative Sudy Comparing Argatroban® IV vs Desirudin SC for Suspected HIT With or Without Thrombosis Syndrome Terminated NCT00787332 Phase 4
38 Low-Dose Decitabine Compared With Standard Supportive Care in Treating Older Patients With Myelodysplastic Syndrome Unknown status NCT00043134 Phase 3
39 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
40 Sildenofil in Persistent Pulmonary Hypertension in Newborns Unknown status NCT01558466 Phase 3
41 Safety and Effectiveness of Three Anti-HIV Drugs Combined in One Pill (Trizivir) Unknown status NCT00004981 Phase 3
42 A Comparison of Emtricitabine and Stavudine Used With Didanosine Plus Efavirenz in HIV-Infected Patients Who Have Not Taken Anti-HIV Drugs Unknown status NCT00006208 Phase 3
43 Cyclophosphamide Versus Mycophenolate Mofetil for the Treatment of Steroid-dependent Nephrotic Syndrome in Children Completed NCT01092962 Phase 3
44 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
45 Study of Milnacipran for the Treatment of Fibromyalgia Completed NCT00314249 Phase 3
46 The STREAM Percutaneous Coronary Intervention Anticoagulant Sub-study Completed NCT00882635 Phase 3
47 A Comparison of Ticagrelor (AZD6140) and Clopidogrel in Patients With Acute Coronary Syndrome Completed NCT00391872 Phase 3
48 A Study to Evaluate the Efficacy and Safety of ALKS 9072 (Also Known as Aripiprazole Lauroxil, ALKS 9070, or ARISTADA) in Subjects With Schizophrenia Completed NCT01469039 Phase 3
49 PREMILOC Trial to Prevent Bronchopulmonary Dysplasia in Very Preterm Neonates Completed NCT00623740 Phase 3
50 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3

Search NIH Clinical Center for Roberts Syndrome

Cochrane evidence based reviews: roberts syndrome

Genetic Tests for Roberts Syndrome

Genetic tests related to Roberts Syndrome:

id Genetic test Affiliating Genes
1 Roberts-Sc Phocomelia Syndrome 29
2 Roberts Syndrome 24 ESCO2

Anatomical Context for Roberts Syndrome

MalaCards organs/tissues related to Roberts Syndrome:

39
Bone, Kidney, Heart, Eye, Spleen, Uterus

Publications for Roberts Syndrome

Articles related to Roberts Syndrome:

(show top 50) (show all 91)
id Title Authors Year
1
Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome. ( 26729373 )
2016
2
Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome. ( 26044958 )
2015
3
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. ( 25927602 )
2015
4
Expanding the mutation and clinical spectrum of Roberts syndrome. ( 26710928 )
2015
5
Intrapartum diagnostic of Roberts syndrome - case presentation. ( 26193234 )
2015
6
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome. ( 25320640 )
2014
7
Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction. ( 25054091 )
2014
8
The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2. ( 24864645 )
2014
9
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. ( 24098154 )
2013
10
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). ( 22694322 )
2012
11
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. ( 21637801 )
2011
12
Antenatal three-dimensional sonographic features of Roberts syndrome. ( 21533789 )
2011
13
A child with Roberts syndrome. ( 21777535 )
2011
14
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. ( 21490908 )
2010
15
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. ( 19878742 )
2010
16
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
17
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. ( 20101700 )
2010
18
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. ( 19533786 )
2009
19
Roberts syndrome: facial dysmorphology in a mildly affected case. ( 19707122 )
2009
20
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. ( 19738907 )
2009
21
Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. ( 18710560 )
2008
22
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. ( 18411254 )
2008
23
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. ( 18186147 )
2008
24
Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation. ( 18209617 )
2007
25
Norman-Roberts syndrome: characterization of the phenotype in early fetal life. ( 17367103 )
2007
26
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome. ( 17708708 )
2007
27
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. ( 16547991 )
2006
28
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. ( 16719272 )
2006
29
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
30
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. ( 15887093 )
2005
31
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. ( 16380922 )
2005
32
Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes. ( 15094189 )
2004
33
Report of two Turkish infants with Norman-Roberts syndrome. ( 15083694 )
2004
34
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? ( 12548750 )
2003
35
Roberts syndrome, normal cell division, and normal intelligence. ( 12040206 )
2002
36
A case of Roberts syndrome described in 1737. ( 11494971 )
2001
37
Roberts syndrome from the plastic surgeon's viewpoint. ( 11604661 )
2001
38
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. ( 10925387 )
2000
39
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. ( 11117361 )
2000
40
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. ( 10861718 )
2000
41
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. ( 9788553 )
1998
42
Cell proliferation rate and nuclear morphometry in Roberts syndrome. ( 9894798 )
1998
43
Tetra-amelia and splenogonadal fusion in Roberts syndrome. ( 9028456 )
1997
44
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. ( 9332660 )
1997
45
Craniosynostosis in Roberts syndrome. ( 9134301 )
1997
46
Roberts syndrome: first-trimester prenatal diagnosis. ( 8878291 )
1996
47
Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history. ( 8705416 )
1996
48
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? ( 9147883 )
1996
49
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
50
Prenatal diagnosis of Roberts syndrome: two new cases. ( 8650122 )
1996

Variations for Roberts Syndrome

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

66
id 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)
id 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.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs80359849 GRCh37 Chromosome 8, 27634330: 27634330
3 ESCO2 NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs) duplication Pathogenic rs80359852 GRCh37 Chromosome 8, 27634576: 27634576
4 ESCO2 NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs) duplication Pathogenic rs80359853 GRCh37 Chromosome 8, 27634585: 27634585
5 ESCO2 NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter) single nucleotide variant Pathogenic rs80359864 GRCh37 Chromosome 8, 27649485: 27649485
6 ESCO2 NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs80359850 GRCh37 Chromosome 8, 27634429: 27634429
7 ESCO2 NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs) insertion Pathogenic rs80359859 GRCh37 Chromosome 8, 27645499: 27645500
8 ESCO2 NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs) duplication Pathogenic rs80359859 GRCh37 Chromosome 8, 27645499: 27645499
9 ESCO2 NM_001017420.2(ESCO2): c.1131+1G> A single nucleotide variant Pathogenic rs80359861 GRCh37 Chromosome 8, 27645520: 27645520
10 ESCO2 NM_001017420.2(ESCO2): c.1132-7A> G single nucleotide variant Pathogenic rs80359862 GRCh37 Chromosome 8, 27646357: 27646357
11 ESCO2 NM_001017420.2(ESCO2): c.1263+1G> C single nucleotide variant Pathogenic rs80359863 GRCh37 Chromosome 8, 27646496: 27646496
12 ESCO2 NM_001017420.2(ESCO2): c.1354-18G> A single nucleotide variant Pathogenic rs80359865 GRCh37 Chromosome 8, 27650167: 27650167
13 ESCO2 NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs) deletion Pathogenic rs80359866 GRCh37 Chromosome 8, 27650292: 27650293
14 ESCO2 NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs) duplication Pathogenic rs80359867 GRCh37 Chromosome 8, 27657157: 27657157
15 ESCO2 NM_001017420.2(ESCO2): c.1674-2A> G single nucleotide variant Pathogenic rs80359869 GRCh37 Chromosome 8, 27660821: 27660821
16 ESCO2 NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs) deletion Pathogenic rs80359844 GRCh37 Chromosome 8, 27634077: 27634078
17 ESCO2 NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs) deletion Pathogenic rs80359845 GRCh37 Chromosome 8, 27634119: 27634122
18 ESCO2 NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs) deletion Pathogenic rs80359846 GRCh37 Chromosome 8, 27634132: 27634136
19 ESCO2 NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs) deletion Pathogenic rs80359847 GRCh37 Chromosome 8, 27634133: 27634134
20 ESCO2 NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs) duplication Pathogenic rs80359848 GRCh37 Chromosome 8, 27634242: 27634242
21 ESCO2 NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs) deletion Pathogenic rs80359851 GRCh37 Chromosome 8, 27634570: 27634571
22 ESCO2 NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs) deletion Pathogenic rs80359854 GRCh37 Chromosome 8, 27634585: 27634585
23 ESCO2 NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs) deletion Pathogenic rs80359855 GRCh37 Chromosome 8, 27634589: 27634590
24 ESCO2 NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs) deletion Pathogenic rs80359856 GRCh37 Chromosome 8, 27637704: 27637707
25 ESCO2 NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs) deletion Pathogenic rs80359857 GRCh37 Chromosome 8, 27637708: 27637709
26 ESCO2 NM_001017420.2(ESCO2): c.955+2_955+5delTAAG deletion Pathogenic rs80359858 GRCh37 Chromosome 8, 27637786: 27637789
27 ESCO2 NM_001017420.2(ESCO2): c.1175G> A (p.Cys392Tyr) single nucleotide variant Likely pathogenic rs146312522 GRCh37 Chromosome 8, 27646407: 27646407
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 GRCh37 Chromosome 8, 27637740: 27637740

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:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 DDX11 ESCO1 ESCO2 INCENP RAD21 SMC3
2 nucleoplasm GO:0005654 9.85 DDX11 ESCO1 ESCO2 INCENP RAD21 SMC3
3 midbody GO:0030496 9.48 DDX11 INCENP
4 spindle pole GO:0000922 9.46 DDX11 SMC3
5 chromosome, centromeric region GO:0000775 9.43 INCENP RAD21 SMC3
6 lateral element GO:0000800 9.4 INCENP SMC3
7 chromocenter GO:0010369 9.32 ESCO2 INCENP
8 chromatin GO:0000785 9.26 ESCO1 ESCO2 RAD21 SMC3
9 cohesin complex GO:0008278 9.16 RAD21 SMC3
10 chromosome GO:0005694 9.1 DDX11 ESCO1 ESCO2 INCENP RAD21 SMC3

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.69 DDX11 RAD21 SMC3
2 cell division GO:0051301 9.65 INCENP RAD21 SMC3
3 DNA repair GO:0006281 9.63 DDX11 RAD21 SMC3
4 mitotic nuclear division GO:0007067 9.61 INCENP RAD21 SMC3
5 cell cycle GO:0007049 9.55 ESCO1 ESCO2 INCENP RAD21 SMC3
6 chromosome segregation GO:0007059 9.54 ESCO2 INCENP RAD21
7 double-strand break repair GO:0006302 9.49 ESCO2 RAD21
8 protein localization to chromatin GO:0071168 9.4 ESCO2 RAD21
9 positive regulation of sister chromatid cohesion GO:0045876 9.32 DDX11 RAD21
10 post-translational protein acetylation GO:0034421 9.26 ESCO1 ESCO2
11 regulation of DNA replication GO:0006275 9.13 ESCO1 ESCO2 SMC3
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:

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.13 DDX11 RAD21 SMC3
2 N-acetyltransferase activity GO:0008080 8.62 ESCO1 ESCO2

Sources for Roberts Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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