RBS
MCID: RBR002
MIFTS: 63

Roberts-Sc Phocomelia Syndrome (RBS)

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

Aliases & Classifications for Roberts-Sc Phocomelia Syndrome

MalaCards integrated aliases for Roberts-Sc Phocomelia Syndrome:

Name: Roberts-Sc Phocomelia Syndrome 57 20 43 58 29 6
Roberts Syndrome 57 12 74 20 43 58 73 13 44 15
Sc Phocomelia Syndrome 57 12 20 43 73 39
Rbs 57 12 20 43 73
Sc Pseudothalidomide Syndrome 57 43 58 73
Long Bone Deficiencies Associated with Cleft Lip-Palate 57 12 20
Pseudothalidomide Syndrome 20 43 58
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 20 43
Tetraphocomelia-Cleft Palate Syndrome 20 43
Appelt-Gerken-Lenz Syndrome 20 43
Roberts Tetraphocomelia Syndrome 20
Roberts Syndrome/sc Phocomelia 20
Syndrome, Roberts 39
Sc Phocomelia 58
Sc Syndrome 43
Sc Disease 54
Scps 73
Sc 17

Characteristics:

Orphanet epidemiological data:

58
roberts syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
polyhydramnios
presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
likely allelic to sc phocomelia syndrome

Inheritance:
autosomal recessive


HPO:

31
roberts-sc phocomelia syndrome:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Roberts-Sc Phocomelia Syndrome

MedlinePlus Genetics : 43 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 about half of all people with Roberts syndrome.Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal or missing fingers and toes, and joint deformities (contractures) commonly occur at the elbows and knees. The limb abnormalities are very similar on the right and left sides of the body, but arms are usually more severely affected than legs.Individuals with Roberts syndrome typically have numerous facial abnormalities, including an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point downward (down-slanting palpebral fissures), small nostrils, and a beaked nose. They may have a small head size (microcephaly) or clouding of the clear front covering of the eyes (corneal opacities). In severe cases affected individuals have a sac-like protrusion of the brain (encephalocele) at the front of their head. In addition, people with Roberts syndrome may have heart, kidney, and genital abnormalities.Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth. Mildly affected individuals may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from Roberts syndrome; however, it is now considered to be a mild variant. "SC" represents the first letters of the surnames of the two families first diagnosed with this disorder.

MalaCards based summary : Roberts-Sc Phocomelia Syndrome, also known as roberts syndrome, is related to warsaw breakage syndrome and autosomal recessive disease, and has symptoms including seizures An important gene associated with Roberts-Sc Phocomelia Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. The drugs carbamide peroxide and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney, and related phenotypes are hypertelorism and bowing of the long bones

Disease Ontology : 12 A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has material basis in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1.

GARD : 20 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.

OMIM® : 57 Roberts-SC phocomelia syndrome (RBS) is a rare autosomal recessive disorder clinically characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe. The upper limbs are more affected than the lower limbs, where variations from tetraphocomelia (symetrical limb reduction) to hypomelia arising from mesomelic shortness are seen. Elbow and knee contractures, reduction in the number and length of fingers, thumb aplasia and hypoplasia, and clinodactyly may also be observed. Severely affected patients may die during pregnancy or the neonatal period, whereas slightly affected patients will reach adulthood (summary by Goh et al., 2010 and Sezer et al., 2019). (268300) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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).
SC phocomelia syndrome: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common.

Wikipedia : 74 {Short description|Medical... more...

Related Diseases for Roberts-Sc Phocomelia Syndrome

Diseases related to Roberts-Sc Phocomelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 warsaw breakage syndrome 31.2 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
2 autosomal recessive disease 30.6 RAD21 HBB H2AC18 CRYAA
3 cornelia de lange syndrome 1 30.4 SMC3 RAD21 NIPBL HDAC8
4 cornelia de lange syndrome 29.0 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
5 sickle cell anemia 11.8
6 lissencephaly 2 11.6
7 lissencephaly with cerebellar hypoplasia 11.0
8 atelosteogenesis, type i 11.0
9 boomerang dysplasia 11.0
10 phocomelia 10.9
11 sickle cell disease 10.5
12 hemoglobinopathy 10.5
13 cholera 10.4
14 microcephaly 10.4
15 hydrocephalus 10.4
16 hemangioma 10.4
17 thalassemia 10.3
18 acute chest syndrome 10.3
19 splenic sequestration 10.3
20 splenomegaly 10.3
21 corneal dystrophy, subepithelial mucinous 10.3 SMC1A CRYAA
22 cleft palate, isolated 10.2
23 hypertelorism 10.2
24 fryns microphthalmia syndrome 10.2
25 46 xx gonadal dysgenesis 10.2
26 cavernous hemangioma 10.2
27 cleft lip 10.2
28 exophthalmos 10.2
29 esco2 spectrum disorder 10.2
30 chromosomal triplication 10.2
31 encephalocele 10.2
32 exencephaly 10.2
33 aneurysm 10.2
34 multicystic dysplastic kidney 10.2
35 cleft lip/palate 10.2
36 spherocytosis, type 4 10.2 ZNF23 HBB H2AC18
37 spherocytosis, type 3 10.2 ZNF23 HBB H2AC18
38 hemolytic anemia 10.2
39 eyelid disease 10.2 SMC3 SMC1A NIPBL CRYAA
40 diaphragmatic hernia, congenital 10.2 SMC3 SMC1A NIPBL
41 carbohydrate metabolic disorder 10.2 ZNF23 H2AC18 CRYAA
42 cornelia de lange syndrome 3 with or without midline brain defects 10.2 SMC3 SMC1A NIPBL HDAC8
43 granuloma inguinale 10.2 TEPP CERT1
44 lissencephaly 10.2
45 allergic disease 10.2
46 amelia 10.2
47 orofacial cleft 10.1 NIPBL H2AC18 ESCO2 CRYAA
48 wiedemann-steiner syndrome 10.1 SMC3 SMC1A
49 alpha-thalassemia 10.1
50 chromosome 16p13.3 deletion syndrome, proximal 10.1 SMC1A NIPBL HDAC8 H2AC18

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



Diseases related to Roberts-Sc Phocomelia Syndrome

Symptoms & Phenotypes for Roberts-Sc Phocomelia Syndrome

Human phenotypes related to Roberts-Sc Phocomelia Syndrome:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
6 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
7 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
8 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
9 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
10 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
11 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
12 complete duplication of thumb phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0009943
13 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
14 phocomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009829
15 mesomelic arm shortening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005011
16 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
17 radial deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009466
18 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
19 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
20 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
21 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
22 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
23 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
24 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
25 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
26 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
27 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
28 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
29 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
30 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
31 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
32 absent earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000387
33 midface capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0007452
34 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
35 clitoral hypertrophy 31 frequent (33%) HP:0008665
36 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
37 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
38 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
39 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
40 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
41 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
42 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
43 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
44 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
45 polycystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000113
46 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
47 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
48 wrist flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001239
49 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
50 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hydrocephalus
cranial nerve paralysis
frontal encephalocele
mental retardation

Head And Neck Eyes:
cataract
hypertelorism
microphthalmia
shallow orbits
downslanting palpebral fissures
more
Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Head And Neck Face:
micrognathia
malar hypoplasia

Genitourinary Kidneys:
horseshoe kidney
polycystic kidney

Skeletal Hands:
brachydactyly
oligodactyly
clinodactyly
syndactyly
wrist contracture
more
Genitourinary External Genitalia Male:
hypospadias
enlarged penis

Skin Nails Hair Hair:
sparse hair
silvery blonde scalp hair

Genitourinary Internal Genitalia Female:
bicornuate uterus

Genitourinary External Genitalia Female:
enlarged labia minora
enlarged clitoris

Skeletal Limbs:
tetraphocomelia
elbow contracture
hypomelia (more severe in upper limbs)
absence or reduction in length of humerus, radius, or ulna
knee contracture
more
Growth Height:
birth length less than 40cm

Growth Other:
severe prenatal growth deficiency
mild-severe postnatal growth deficiency

Skin Nails Hair Skin:
midfacial capillary hemangioma
cafe au lait spots on trunk and extremities

Head And Neck Neck:
short neck
nuchal cystic hygroma

Head And Neck Head:
microcephaly
brachycephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
lobeless ears
malformed ears
posteriorly-angulated ears

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
craniosynostosis

Abdomen Spleen:
accessory spleen

Skeletal Feet:
talipes equinovalgus
ankle contracture
reduction in number of toes

Laboratory Abnormalities:
premature separation of centromeric heterochromatin
normal karyotype
abnormal nuclear morphology

Head And Neck Nose:
hypoplastic nasal alae
thin nares
widened nasal bridge

Growth Weight:
birth weight 1.5-2.2 kg

Abdomen Biliary Tract:
rudimentary gallbladder

Clinical features from OMIM®:

268300 (Updated 05-Mar-2021)

UMLS symptoms related to Roberts-Sc Phocomelia Syndrome:


seizures

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.68 H2AC18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.68 H2AC18
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.68 SMC1A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.68 SMC1A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.68 ESCO1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.68 H2AC18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.68 H2AC18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.68 CRYAA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.68 CRYAA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.68 SMC1A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 9.68 SMC1A
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.68 CRYAA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.68 CRYAA H2AC18
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.68 ESCO1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.68 H2AC18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.68 H2AC18
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.68 ESCO1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.68 SMC1A
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.68 CRYAA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.68 ESCO1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.68 CRYAA
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.68 SMC1A

MGI Mouse Phenotypes related to Roberts-Sc Phocomelia Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 CDCA5 CERT1 HDAC8 MAU2 NIPBL PDS5A
2 mortality/aging MP:0010768 9.44 CDCA5 CERT1 DDX11 ESCO2 HDAC8 MAU2

Drugs & Therapeutics for Roberts-Sc Phocomelia Syndrome

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 2 124-43-6
2
Hydroxyurea Approved Phase 2 127-07-1 3657
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
5
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
6
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
7 Immunosuppressive Agents Phase 2
8 Immunologic Factors Phase 2
9 Alkylating Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Hormones Phase 2
12 Hormone Antagonists Phase 2
13 glucocorticoids Phase 2
14 Antineoplastic Agents, Hormonal Phase 2
15 Mitogens Phase 1
16
Mesna Approved, Investigational 3375-50-6 598
17
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
18
alemtuzumab Approved, Investigational 216503-57-0
19
Cytarabine Approved, Investigational 147-94-4 6253
20
rituximab Approved 174722-31-7 10201696
21
Bortezomib Approved, Investigational 179324-69-7 387447 93860
22 Date Palm
23 Antineoplastic Agents, Immunological
24 Antirheumatic Agents
25 Anti-Infective Agents
26 Immunoglobulins
27 Antimetabolites
28 Antiviral Agents
29 Antibodies

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial to Determine the Efficacy of Ketamine as an Adjunct for Pain Management in Patients With Sickle Cell Crisis Withdrawn NCT03502421 Phase 3 Ketamine
2 A Prospective Open Label, Pharmacokinetic Study of an Oral Hydroxyurea Solution in Children With Sickle Cell Anemia. Recruiting NCT03763656 Phase 2 Hydroxy Urea
3 Treatment of Adult Patients With Hemoglobin SC Disease Terminated NCT02640573 Phase 2 Hydroxyurea
4 The Effect of Oral Magnesium Pidolate on Incidence of Painful Crises in Patients With Hemoglobin SC Disease Terminated NCT00040456 Phase 2 Mg Pidolate;Placebo
5 Effectiveness of Hydroxyurea and Magnesium Pidolate Alone and in Combination in Hemoglobin SC Disease: A Phase II Trial Terminated NCT00532883 Phase 2 Hydroxyurea;Magnesium Pidolate
6 SC Youth Treatment With Hydroxyurea Effects Terminated NCT02336373 Phase 2 hydroxyurea
7 Allogeneic Stem Cell Transplantation Following Nonmyeloablative Chemotherapy in Patients With Hemoglobinopathies Terminated NCT00034528 Phase 2 Busulfan;Fludarabine;FK506;Prednisone
8 A Phase 2 Multi-center, Randomized, Double-blind, Comparator-Controlled Dose Finding Study to Evaluate MP4CO for the Acute Treatment of Vaso-occlusive Crises in Subjects With Sickle Cell Disease Withdrawn NCT01925001 Phase 2 MP4CO;Sodium chloride solution
9 A Phase I/II Trial of Recombinant-Methionyl Human Stem Cell Factor (SCF) in Adult Patients With Sickling Disorders Completed NCT00005783 Phase 1 Recombinant-methionyl human stem cell factor
10 A Multi-center, Randomized, Double Blind, Dose Escalation Safety Study of MP4CO in Clinically Stable Adult Sickle Cell Patients Completed NCT01356485 Phase 1 MP4CO;Sodium chloride solution
11 A Phase 1a Study of IMR-687 in Healthy Adult Volunteers Completed NCT02998450 Phase 1 IMR-687;Placebo Oral Capsule
12 Evaluation of a Training Program for Homozygous Sickle Cell Disease Patients: Benefits on Physical Ability and Skeletal Muscle. An Interventional Pilot, Multicentric, Prospective, Longitudinal Study Completed NCT02571088
13 Home-based Assessment of Patient Reported Outcome (PROs) Measures in Sickle Cell Disease (SCD) Using A Smartphone App Platform: A Feasibility Study Completed NCT04678037
14 Computerized PAINRelieveIt for Adult Sickle Cell Disease Completed NCT00600665
15 Comparative Effectiveness of a Decision Aid for Therapeutic Options in Sickle Cell Disease Completed NCT02326597
16 PINPOINT: Gaming Technology to Engage Adolescent Sickle Cell Patients in Precision Pain Phase II Recruiting NCT04579926
17 Role of Ajwa Derived Polyphenols in Dyslipidaemias Recruiting NCT03805139
18 The Longitudinal Relationship of Hydroxyurea Adherence Behavior to Health-related Quality of Life, Barriers to Adherence and Habit Formation in Patients With Sickle Cell Disease. Recruiting NCT04691323
19 Parent Intervention to Improve Academic Success in Children With Sickle Cell Disease Active, not recruiting NCT00860782
20 Adherence to Hydroxyurea and Health-related Quality of Life in Patients With Sickle Cell Disease: An Intervention Study Using a Smartphone App (HU-Go) Not yet recruiting NCT04675645
21 An mHealth Strategy to Improve Medication Adherence in Adolescents With Sickle Cell Disease Not yet recruiting NCT04688411
22 Allogeneic Bone Marrow Transplantation From HLA Identical Related Donors for Patients With Hemoglobinopathies: Hemoglobin SS, Hemoglobin SC, or Hemoglobin SB0/+ Thalassemia Terminated NCT00578344 Busulfan;Cyclophosphamide and MESNA
23 Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Sickle Cell Anemia From HLA Matched or Partially-Matched Related Donors Terminated NCT01350232 Fludarabine;Cytarabine;Cyclophosphamide;Bortezomib;Rituximab

Search NIH Clinical Center for Roberts-Sc Phocomelia Syndrome

Cochrane evidence based reviews: roberts syndrome

Genetic Tests for Roberts-Sc Phocomelia Syndrome

Genetic tests related to Roberts-Sc Phocomelia Syndrome:

# Genetic test Affiliating Genes
1 Roberts-Sc Phocomelia Syndrome 29 ESCO2

Anatomical Context for Roberts-Sc Phocomelia Syndrome

MalaCards organs/tissues related to Roberts-Sc Phocomelia Syndrome:

40
Eye, Bone, Kidney, Spleen, Uterus, Bone Marrow, Heart

Publications for Roberts-Sc Phocomelia Syndrome

Articles related to Roberts-Sc Phocomelia Syndrome:

(show top 50) (show all 203)
# Title Authors PMID Year
1
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. 61 57 6
16380922 2005
2
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. 57 61 6
15821733 2005
3
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. 57 6 61
3740099 1986
4
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). 61 57 6
495649 1979
5
History of C-patient with SC-Roberts/pseudothalidamide syndrome. 6 57
1642282 1992
6
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. 57 61
30590172 2019
7
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. 61 57
20101700 2010
8
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. 61 57
19574259 2010
9
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. 61 57
19533786 2009
10
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 61 57
18411254 2008
11
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. 61 57
15887093 2005
12
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? 61 57
12548750 2003
13
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. 61 57
10925387 2000
14
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. 57 61
9788553 1998
15
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. 61 57
9332660 1997
16
Picture of the month. Roberts-SC phocomelia syndrome. 57 61
8646318 1996
17
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. 61 57
7558058 1995
18
Heterogeneity in Roberts syndrome. 57 61
7536395 1995
19
Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. 61 57
8039795 1994
20
Roberts-SC phocomelia syndrome: a case with additional anomalies. 57 61
8004795 1994
21
Roberts syndrome: a review of 100 cases and a new rating system for severity. 57 61
8291532 1993
22
Prenatal diagnosis of Roberts syndrome. 61 57
1494554 1992
23
First-trimester prenatal diagnosis of Roberts syndrome. 57 61
1553361 1992
24
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. 57 61
2055135 1991
25
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. 57 61
1809233 1991
26
Roberts syndrome with normal cell division. 57 61
2012128 1991
27
A sibship with Roberts/SC phocomelia syndrome. 61 57
2240038 1990
28
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. 57 61
2359099 1990
29
Roberts syndrome and SC phocomelia. A single genetic entity. 57 61
3568444 1987
30
The Roberts tetraphocomelia syndrome: identical limb defects in two siblings. 57 61
3501269 1987
31
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. 57 61
3788975 1986
32
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? 61 57
6517054 1984
33
Premature centromere splitting in a presumptive mild form of Roberts syndrome. 61 57
6698562 1984
34
Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. 61 57
6859118 1983
35
[The Roberts syndrome. Report of a case without anomaly of the centrometric region (author's transl)]. 57 61
7110148 1982
36
The Roberts syndrome. 57 61
7152521 1982
37
Roberts'--SC phocomelia syndrome with cytogenetic findings. 57 61
7106776 1982
38
The tetraphocomelia-cleft palate syndrome in identical twins. 57 61
7188929 1980
39
Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. 57 61
527250 1979
40
The Roberts' syndrome. 57 61
631853 1978
41
The SC phocomelia and the Roberts syndrome: nosologic aspects. 57 61
872834 1977
42
Prenatal diagnosis of renal anomalies. 61 57
610432 1977
43
The Roberts syndrome. 57 61
4151884 1974
44
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. 57
22002800 2011
45
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. 57
3812580 1987
46
Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. 57
7171776 1982
47
Four siblings with Robert's syndrome. 57
7067161 1982
48
Roberts's syndrome. II. Aberrant Y-chromosome behavior. 57
7193102 1981
49
Roberts's syndrome and clonidine. 57
537023 1979
50
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. 57
517578 1979

Variations for Roberts-Sc Phocomelia Syndrome

ClinVar genetic disease variations for Roberts-Sc Phocomelia Syndrome:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ESCO2 NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) SNV Pathogenic 1735 rs80359868 8:27657175-27657175 8:27799658-27799658
2 ESCO2 NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) SNV Pathogenic 1739 rs80359864 8:27649485-27649485 8:27791968-27791968
3 ESCO2 NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) SNV Pathogenic 1740 rs80359850 8:27634429-27634429 8:27776912-27776912
4 ESCO2 NM_001017420.3(ESCO2):c.1263+1G>C SNV Pathogenic 21235 rs80359863 8:27646496-27646496 8:27788979-27788979
5 ESCO2 NM_001017420.3(ESCO2):c.1354-18G>A SNV Pathogenic 21236 rs80359865 8:27650167-27650167 8:27792650-27792650
6 ESCO2 NM_001017420.3(ESCO2):c.1674-2A>G SNV Pathogenic 21239 rs80359869 8:27660821-27660821 8:27803304-27803304
7 ESCO2 NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs) Deletion Pathogenic 21241 rs80359844 8:27634076-27634077 8:27776559-27776560
8 ESCO2 NM_001017420.3(ESCO2):c.745_746del (p.Val249fs) Deletion Pathogenic 21246 rs80359851 8:27634569-27634570 8:27777052-27777053
9 ESCO2 NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs) Deletion Pathogenic 21249 rs80359855 8:27634587-27634588 8:27777070-27777071
10 ESCO2 NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs) Deletion Pathogenic 21250 rs80359856 8:27637703-27637706 8:27780186-27780189
11 ESCO2 NM_001017420.3(ESCO2):c.955+2_955+5del Deletion Pathogenic 21252 rs80359858 8:27637783-27637786 8:27780266-27780269
12 ESCO2 NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) SNV Pathogenic 1736 rs80359849 8:27634330-27634330 8:27776813-27776813
13 ESCO2 NM_001017420.3(ESCO2):c.1131+1G>A SNV Pathogenic 21233 rs80359861 8:27645520-27645520 8:27788003-27788003
14 ESCO2 NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) Deletion Pathogenic 21243 rs80359846 8:27634131-27634135 8:27776614-27776618
15 ESCO2 NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs) Deletion Pathogenic 21244 rs80359847 8:27634131-27634132 8:27776614-27776615
16 ESCO2 NM_001017420.3(ESCO2):c.751dup (p.Glu251fs) Duplication Pathogenic 1737 rs1554554098 8:27634575-27634576 8:27777058-27777059
17 ESCO2 NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) Duplication Pathogenic 1738 rs80359852 8:27634576-27634577 8:27777059-27777060
18 ESCO2 NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs) Insertion Pathogenic 21231 rs1554555716 8:27645499-27645500 8:27787982-27787983
19 ESCO2 NM_001017420.3(ESCO2):c.1457_1458AG[2] (p.Arg487fs) Microsatellite Pathogenic 21237 rs80359866 8:27650288-27650289 8:27792771-27792772
20 ESCO2 NM_001017420.3(ESCO2):c.417dup (p.Pro140fs) Duplication Pathogenic 21245 rs80359848 8:27634236-27634237 8:27776719-27776720
21 ESCO2 NM_001017420.3(ESCO2):c.877_878AG[1] (p.Arg293fs) Microsatellite Pathogenic 21251 rs80359857 8:27637706-27637707 8:27780189-27780190
22 ESCO2 NM_001017420.3(ESCO2):c.760del (p.Thr254fs) Deletion Pathogenic 21247 rs80359852 8:27634577-27634577 8:27777060-27777060
23 ESCO2 NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) Indel Pathogenic 210961 rs797045565 8:27637723-27637723 8:27780206-27780206
24 ESCO2 NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) Duplication Pathogenic 210962 rs797045566 8:27637735-27637736 8:27780218-27780219
25 ESCO2 NM_001017420.3(ESCO2):c.292_293GA[1] (p.Arg99fs) Microsatellite Pathogenic 21242 rs80359845 8:27634117-27634120 8:27776600-27776603
26 ESCO2 NM_001017420.3(ESCO2):c.1132-7A>G SNV Pathogenic 21234 rs80359862 8:27646357-27646357 8:27788840-27788840
27 ESCO2 NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs) Duplication Pathogenic 21238 rs80359867 8:27657156-27657157 8:27799639-27799640
28 ESCO2 NM_001017420.3(ESCO2):c.956-2A>G SNV Likely pathogenic 804409 rs1207909659 8:27641515-27641515 8:27783998-27783998
29 ESCO2 NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) SNV Likely pathogenic 158573 rs146312522 8:27646407-27646407 8:27788890-27788890
30 ESCO2 NM_001017420.3(ESCO2):c.116dup (p.Asn39fs) Duplication Likely pathogenic 800869 rs1585389705 8:27633937-27633938 8:27776420-27776421
31 ESCO2 NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) Duplication Likely pathogenic 21232 rs80359859 8:27645492-27645493 8:27787975-27787976
32 ESCO2 NM_001017420.3(ESCO2):c.*982T>C SNV Uncertain significance 362770 rs886062872 8:27661937-27661937 8:27804420-27804420
33 ESCO2 NM_001017420.3(ESCO2):c.*172G>C SNV Uncertain significance 362760 rs539459940 8:27661127-27661127 8:27803610-27803610
34 ESCO2 NM_001017420.3(ESCO2):c.1013+7A>G SNV Uncertain significance 362737 rs149494070 8:27641581-27641581 8:27784064-27784064
35 ESCO2 NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) SNV Uncertain significance 198112 rs143346057 8:27645419-27645419 8:27787902-27787902
36 ESCO2 NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly) SNV Uncertain significance 362735 rs886062859 8:27634660-27634660 8:27777143-27777143
37 ESCO2 NM_001017420.3(ESCO2):c.*261T>A SNV Uncertain significance 362762 rs886062869 8:27661216-27661216 8:27803699-27803699
38 ESCO2 NM_001017420.3(ESCO2):c.*155T>G SNV Uncertain significance 362759 rs886062867 8:27661110-27661110 8:27803593-27803593
39 ESCO2 NM_001017420.3(ESCO2):c.-38C>G SNV Uncertain significance 362728 rs541613867 8:27632103-27632103 8:27774586-27774586
40 ESCO2 NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu) SNV Uncertain significance 362740 rs202084183 8:27645493-27645493 8:27787976-27787976
41 ESCO2 NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln) SNV Uncertain significance 362734 rs754433579 8:27634403-27634403 8:27776886-27776886
42 ESCO2 NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) SNV Uncertain significance 362732 rs199653554 8:27634150-27634150 8:27776633-27776633
43 ESCO2 NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) SNV Uncertain significance 362736 rs184200865 8:27637744-27637744 8:27780227-27780227
44 ESCO2 NM_001017420.3(ESCO2):c.*538A>G SNV Uncertain significance 908094 8:27661493-27661493 8:27803976-27803976
45 ESCO2 NM_001017420.3(ESCO2):c.*697G>C SNV Uncertain significance 908095 8:27661652-27661652 8:27804135-27804135
46 ESCO2 NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile) SNV Uncertain significance 909140 8:27634487-27634487 8:27776970-27776970
47 ESCO2 NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala) SNV Uncertain significance 909141 8:27634522-27634522 8:27777005-27777005
48 ESCO2 NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser) SNV Uncertain significance 909987 8:27641565-27641565 8:27784048-27784048
49 ESCO2 NM_001017420.3(ESCO2):c.*770A>C SNV Uncertain significance 910045 8:27661725-27661725 8:27804208-27804208
50 ESCO2 NM_001017420.3(ESCO2):c.*915A>G SNV Uncertain significance 910046 8:27661870-27661870 8:27804353-27804353

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

73
# Symbol AA change Variation ID SNP ID
1 ESCO2 p.Trp539Gly VAR_022649 rs80359868

Expression for Roberts-Sc Phocomelia Syndrome

Search GEO for disease gene expression data for Roberts-Sc Phocomelia Syndrome.

Pathways for Roberts-Sc Phocomelia Syndrome

GO Terms for Roberts-Sc Phocomelia Syndrome

Cellular components related to Roberts-Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.29 WAPL SMC3 SMC1A SGO1 RBKS RAD21
2 nucleus GO:0005634 10.25 ZNF23 WAPL SMC3 SMC1A SGO1 RBKS
3 nucleoplasm GO:0005654 10.13 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
4 chromatin GO:0000785 9.9 WAPL SMC3 RAD21 PDS5A NIPBL MAU2
5 spindle pole GO:0000922 9.7 SGO1 RAD21 DDX11
6 nuclear matrix GO:0016363 9.67 SMC3 SMC1A RAD21
7 condensed chromosome, centromeric region GO:0000779 9.54 SGO1 RAD21
8 cohesin complex GO:0008278 9.54 SMC3 SMC1A RAD21
9 chromosome, centromeric region GO:0000775 9.5 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
10 nuclear meiotic cohesin complex GO:0034991 9.48 SMC3 RAD21
11 meiotic cohesin complex GO:0030893 9.46 SMC3 SMC1A
12 chromosome GO:0005694 9.44 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
13 Scc2-Scc4 cohesin loading complex GO:0090694 9.43 NIPBL MAU2
14 SMC loading complex GO:0032116 9.4 NIPBL MAU2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.98 SMC3 SMC1A RAD21 NIPBL DDX11
2 DNA repair GO:0006281 9.95 SMC3 SMC1A RAD21 PDS5A DDX11
3 cell cycle GO:0007049 9.9 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
4 cell division GO:0051301 9.86 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
5 double-strand break repair GO:0006302 9.74 RAD21 ESCO2 CDCA5
6 chromosome segregation GO:0007059 9.71 SGO1 RAD21 MAU2 ESCO2
7 stem cell population maintenance GO:0019827 9.7 SMC3 SMC1A NIPBL
8 regulation of DNA replication GO:0006275 9.61 SMC3 ESCO2 ESCO1
9 negative regulation of DNA replication GO:0008156 9.6 WAPL PDS5A
10 mitotic chromosome condensation GO:0007076 9.59 NIPBL CDCA5
11 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.58 RAD21 NIPBL
12 meiotic sister chromatid cohesion GO:0051177 9.56 SGO1 RAD21
13 meiotic chromosome segregation GO:0045132 9.54 WAPL SGO1
14 protein localization to chromatin GO:0071168 9.54 WAPL RAD21 ESCO2
15 positive regulation of sister chromatid cohesion GO:0045876 9.51 RAD21 DDX11
16 regulation of cohesin loading GO:0071922 9.5 WAPL HDAC8 CDCA5
17 maintenance of mitotic sister chromatid cohesion GO:0034088 9.49 NIPBL MAU2
18 post-translational protein acetylation GO:0034421 9.48 ESCO2 ESCO1
19 cohesin loading GO:0071921 9.46 NIPBL MAU2
20 mitotic sister chromatid cohesion GO:0007064 9.43 SMC1A RAD21 PDS5A NIPBL MAU2 CDCA5
21 sister chromatid cohesion GO:0007062 9.17 SMC3 SMC1A RAD21 HDAC8 ESCO2 ESCO1

Molecular functions related to Roberts-Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.43 SMC3 SMC1A RAD21 NIPBL DDX11 CDCA5
2 acetyltransferase activity GO:0016407 9.16 ESCO2 ESCO1
3 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL

Sources for Roberts-Sc Phocomelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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