RBS
MCID: RBR002
MIFTS: 66

Roberts-Sc Phocomelia Syndrome (RBS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Roberts-Sc Phocomelia Syndrome

MalaCards integrated aliases for Roberts-Sc Phocomelia Syndrome:

Name: Roberts-Sc Phocomelia Syndrome 57 11 19 42 58 73 28 5 71
Roberts Syndrome 57 11 19 42 58 75 73 12 5 43 14 38
Sc Phocomelia Syndrome 57 11 19 42 73 38
Rbs 57 11 19 42 73
Long Bone Deficiencies Associated with Cleft Lip-Palate 57 11 19 73
Sc Pseudothalidomide Syndrome 57 42 58 73
Tetraphocomelia-Cleft Palate Syndrome 19 42 75
Appelt-Gerken-Lenz Syndrome 19 42 75
Pseudothalidomide Syndrome 19 42 58
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 19 42
Roberts Tetraphocomelia Syndrome 19
Roberts Syndrome/sc Phocomelia 19
Hemoglobin Sc Disease 71
Sc Phocomelia 58
Sc Syndrome 42
Sc Disease 53
Sc 16

Characteristics:


Inheritance:

Roberts-Sc Phocomelia Syndrome: Autosomal recessive 57
Roberts Syndrome: Autosomal recessive 58

Age Of Onset:

Roberts Syndrome: Antenatal,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

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


Summaries for Roberts-Sc Phocomelia Syndrome

MedlinePlus Genetics: 42 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 microcephaly, 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 EML4 and NUDC in mitotic spindle formation. The drugs Hydroxyurea and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and eye, and related phenotypes are hypertelorism and bowing of the long bones

GARD: 19 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 genetic changes 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 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by pre- and postnatal growth retardation, intellectual disability, microcephaly, bilateral cleft lip and cleft palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. Patient chromosomes have a lack of cohesion involving heterochromatic C-banding regions around centromeres and the heterochromatin regions on the 1, 9, 16, and Y chromosomes. These findings are referred to as premature centromere separation (PCS) and heterochromatin repulsion (HR), and they are important for the diagnosis of the syndrome.

Disease Ontology: 11 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.

Orphanet: 58 Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

Wikipedia: 75 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal... 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 261)
# Related Disease Score Top Affiliating Genes
1 warsaw breakage syndrome 30.3 WDHD1 WAPL SMC3 SMC1A SGO1 RAD21
2 microcephaly 30.0 SMC1A NIPBL HDAC8 H2AC18 ESCO2 ERCC6
3 atrial heart septal defect 30.0 NIPBL HDAC8 H2AC18
4 baller-gerold syndrome 30.0 ESCO2 ERCC6 DDX11
5 alpha-thalassemia 30.0 SMC3 SMC1A PDS5A NIPBL H2AC18 ESCO2
6 cornelia de lange syndrome 1 29.9 SMC3 SMC1A RAD21 NIPBL HDAC8 ERCC6
7 nijmegen breakage syndrome 29.9 SMC1A H2AC18 ERCC6
8 cornelia de lange syndrome 26.4 WDHD1 WAPL STAG1 SMC3 SMC1A SGO1
9 sickle cell anemia 11.9
10 lissencephaly 2 11.7
11 hemoglobin c disease 11.1
12 phocomelia 10.9
13 sickle cell disease 10.6
14 hemoglobinopathy 10.5
15 cholera 10.4
16 hydrocephalus 10.4
17 hemangioma 10.4
18 thalassemia 10.4
19 acute chest syndrome 10.3
20 diarrhea 10.3
21 cleft lip/palate 10.3
22 splenic sequestration 10.3
23 splenomegaly 10.3
24 cornelia de lange syndrome 2 10.3 SMC1A NIPBL
25 cleft palate, isolated 10.2
26 dilution, pigmentary 10.2
27 hypertelorism 10.2
28 fryns microphthalmia syndrome 10.2
29 cardiac arrest 10.2
30 46 xx gonadal dysgenesis 10.2
31 cystic kidney disease 10.2
32 cavernous hemangioma 10.2
33 cleft lip 10.2
34 exophthalmos 10.2
35 esco2 spectrum disorder 10.2
36 chromosomal triplication 10.2
37 encephalocele 10.2
38 exencephaly 10.2
39 multicystic dysplastic kidney 10.2
40 renal dysplasia 10.2
41 wiedemann-steiner syndrome 10.2 SMC3 SMC1A
42 mullegama-klein-martinez syndrome 10.2 ESCO2 ERCC6
43 hemolytic anemia 10.2
44 autosomal dominant intellectual developmental disorder 31 10.2 SMC1A NIPBL
45 lissencephaly 10.2
46 allergic disease 10.2
47 amelia 10.2
48 hemoglobin se disease 10.1
49 diaphragmatic hernia, congenital 10.1 SMC3 SMC1A NIPBL
50 global developmental delay, lung cysts, overgrowth, and wilms tumor 10.1

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 30 (show top 50) (show all 98)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
2 bowing of the long bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006487
3 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
4 brachycephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000248
5 postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008897
6 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
7 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
8 proximal placement of thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009623
9 underdeveloped nasal alae 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000430
10 aplasia/hypoplasia of the thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009601
11 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
12 complete duplication of thumb phalanx 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009943
13 hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002984
14 phocomelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009829
15 mesomelic arm shortening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005011
16 severe intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008846
17 radial deviation of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009466
18 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
19 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
20 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
21 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
22 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
23 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
24 external ear malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008572
25 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
26 cleft upper lip 58 30 Frequent (33%) Frequent (79-30%)
HP:0000204
27 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
28 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
29 premature birth 58 30 Frequent (33%) Frequent (79-30%)
HP:0001622
30 underdeveloped supraorbital ridges 58 30 Frequent (33%) Frequent (79-30%)
HP:0009891
31 long penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000040
32 absent earlobe 58 30 Frequent (33%) Frequent (79-30%)
HP:0000387
33 midface capillary hemangioma 58 30 Frequent (33%) Frequent (79-30%)
HP:0007452
34 abnormality of cardiovascular system morphology 30 Frequent (33%) HP:0030680
35 clitoral hypertrophy 30 Frequent (33%) HP:0008665
36 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
37 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
38 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
39 thrombocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001873
40 glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000501
41 sandal gap 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001852
42 bilateral single transverse palmar creases 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007598
43 microphthalmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000568
44 polyhydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001561
45 polycystic kidney dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000113
46 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001363
47 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
48 wrist flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001239
49 blue sclerae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000592
50 synostosis of carpal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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

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

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

Skeletal Limbs:
tetraphocomelia
elbow contracture
hypomelia (more severe in upper limbs)
absence or reduction in length of humerus, radius, or ulna
knee contracture
more
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 24-Oct-2022)

UMLS symptoms related to Roberts-Sc Phocomelia Syndrome:


seizures

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.36 HDAC8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.36 PDS5B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 ESCO1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.36 PDS5B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.36 PDS5B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.36 HDAC8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.36 ESCO1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.36 HDAC8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.36 HDAC8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.36 ESCO1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.36 HDAC8

MGI Mouse Phenotypes related to Roberts-Sc Phocomelia Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CHTF18 DDX11 ERCC6 ESCO1 ESCO2 ESPL1
2 embryo MP:0005380 10.06 CHTF18 DDX11 ESCO2 ESPL1 HDAC8 MAU2
3 cellular MP:0005384 10.06 CHTF18 DDX11 ERCC6 ESCO1 ESCO2 ESPL1
4 adipose tissue MP:0005375 9.95 ERCC6 ESCO1 NIPBL PDS5A PDS5B SMC3
5 craniofacial MP:0005382 9.8 HDAC8 MAU2 NIPBL PDS5A PDS5B SMC3
6 skeleton MP:0005390 9.61 ERCC6 HDAC8 MAU2 NIPBL PDS5A PDS5B
7 mortality/aging MP:0010768 9.58 CDCA5 CHTF18 DDX11 ERCC6 ESCO2 ESPL1

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
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
3
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
6 glucocorticoids Phase 2
7 Antineoplastic Agents, Hormonal Phase 2
8 Antineoplastic Agents, Alkylating Phase 2
9 Hormones Phase 2
10 Immunosuppressive Agents Phase 2
11 Hormone Antagonists Phase 2
12 Immunologic Factors Phase 2
13 Anti-Inflammatory Agents Phase 2
14 Alkylating Agents Phase 2
15 Mitogens Phase 1
16
Cytarabine Approved, Experimental, Investigational 147-94-4, 65-46-3 596 6253 6175
17
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
18
Rituximab Approved 174722-31-7
19
Bortezomib Approved, Investigational 179324-69-7 387447 93860
20
Coenzyme M Approved, Investigational 3375-50-6 598 23662354
21
Alemtuzumab Approved, Investigational 216503-57-0
22 Date Palm
23 Antiviral Agents
24 Anti-Infective Agents
25 Antirheumatic Agents
26 Antimetabolites
27 Antibodies
28 Antineoplastic Agents, Immunological
29 Immunoglobulins

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. Completed NCT03763656 Phase 2 Hydroxyurea
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 Allogeneic Stem Cell Transplantation Following Nonmyeloablative Chemotherapy in Patients With Hemoglobinopathies Terminated NCT00034528 Phase 2 Busulfan;Fludarabine;FK506;Prednisone
6 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
7 SC Youth Treatment With Hydroxyurea Effects Terminated NCT02336373 Phase 2 hydroxyurea
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 1a Study of IMR-687 in Healthy Adult Volunteers Completed NCT02998450 Phase 1 IMR-687;Placebo Oral Capsule
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 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
12 Role of Ajwa Derived Polyphenols in Dyslipidaemias Unknown status NCT03805139
13 Adherence to Hydroxyurea and Health-related Quality of Life in Patients With Sickle Cell Disease: An Intervention Study Using a Smartphone App (HU-Go) Completed NCT04675645
14 Home-based Assessment of Patient Reported Outcome (PROs) Measures in Sickle Cell Disease (SCD) Using A Smartphone App Platform: A Feasibility Study Completed NCT04678037
15 Computerized PAINRelieveIt for Adult Sickle Cell Disease Completed NCT00600665
16 Parent Intervention to Improve Academic Success in Children With Sickle Cell Disease Completed NCT00860782
17 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
18 Comparative Effectiveness of a Decision Aid for Therapeutic Options in Sickle Cell Disease Completed NCT02326597
19 PINPOINT: Gaming Technology to Engage Adolescent Sickle Cell Patients in Precision Pain Phase II Completed NCT04579926
20 An mHealth Strategy to Improve Medication Adherence in Adolescents With Sickle Cell Disease Recruiting NCT04688411
21 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
22 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
23 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

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 28 ESCO2

Anatomical Context for Roberts-Sc Phocomelia Syndrome

Organs/tissues related to Roberts-Sc Phocomelia Syndrome:

MalaCards : Bone, Kidney, Eye, Heart, Brain, Spleen, Bone Marrow

Publications for Roberts-Sc Phocomelia Syndrome

Articles related to Roberts-Sc Phocomelia Syndrome:

(show top 50) (show all 631)
# Title Authors PMID Year
1
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 62 57 5
18411254 2008
2
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. 62 57 5
16380922 2005
3
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. 62 57 5
15821733 2005
4
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. 62 57 5
3740099 1986
5
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). 62 57 5
495649 1979
6
History of C-patient with SC-Roberts/pseudothalidamide syndrome. 57 5
1642282 1992
7
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. 62 57
30590172 2019
8
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. 62 57
20101700 2010
9
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. 62 57
19574259 2010
10
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. 62 57
19533786 2009
11
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. 62 57
15887093 2005
12
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? 62 57
12548750 2003
13
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. 62 57
10925387 2000
14
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. 62 57
9788553 1998
15
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. 62 57
9332660 1997
16
Picture of the month. Roberts-SC phocomelia syndrome. 62 57
8646318 1996
17
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. 62 57
7558058 1995
18
Heterogeneity in Roberts syndrome. 62 57
7536395 1995
19
Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. 62 57
8039795 1994
20
Roberts-SC phocomelia syndrome: a case with additional anomalies. 62 57
8004795 1994
21
Roberts syndrome: a review of 100 cases and a new rating system for severity. 62 57
8291532 1993
22
Prenatal diagnosis of Roberts syndrome. 62 57
1494554 1992
23
First-trimester prenatal diagnosis of Roberts syndrome. 62 57
1553361 1992
24
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. 62 57
2055135 1991
25
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. 62 57
1809233 1991
26
Roberts syndrome with normal cell division. 62 57
2012128 1991
27
A sibship with Roberts/SC phocomelia syndrome. 62 57
2240038 1990
28
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. 62 57
2359099 1990
29
Roberts syndrome and SC phocomelia. A single genetic entity. 62 57
3568444 1987
30
The Roberts tetraphocomelia syndrome: identical limb defects in two siblings. 62 57
3501269 1987
31
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. 62 57
3788975 1986
32
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? 62 57
6517054 1984
33
Premature centromere splitting in a presumptive mild form of Roberts syndrome. 62 57
6698562 1984
34
Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. 62 57
6859118 1983
35
[The Roberts syndrome. Report of a case without anomaly of the centrometric region (author's transl)]. 62 57
7110148 1982
36
Four siblings with Robert's syndrome. 62 57
7067161 1982
37
Roberts'--SC phocomelia syndrome with cytogenetic findings. 62 57
7106776 1982
38
The Roberts syndrome. 62 57
7152521 1982
39
The tetraphocomelia-cleft palate syndrome in identical twins. 62 57
7188929 1980
40
Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. 62 57
527250 1979
41
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. 62 57
517578 1979
42
The Roberts' syndrome. 62 57
631853 1978
43
The SC phocomelia and the Roberts syndrome: nosologic aspects. 62 57
872834 1977
44
Prenatal diagnosis of renal anomalies. 62 57
610432 1977
45
The tetraphocomelia -- cleft palate syndrome: description of a new case. 62 57
1176127 1975
46
The Roberts syndrome. 62 57
4151884 1974
47
Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). 62 57
5033248 1972
48
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
49
Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. 57
3812580 1987
50
Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. 57
7171776 1982

Variations for Roberts-Sc Phocomelia Syndrome

ClinVar genetic disease variations for Roberts-Sc Phocomelia Syndrome:

5 (show top 50) (show all 125)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ESCO2 NM_001017420.3(ESCO2):c.955+2_955+5del DEL Pathogenic
21252 rs80359858 GRCh37: 8:27637783-27637786
GRCh38: 8:27780266-27780269
2 ESCO2 NM_001017420.3(ESCO2):c.1673+1G>A SNV Pathogenic
1332853 GRCh37: 8:27657234-27657234
GRCh38: 8:27799717-27799717
3 ESCO2 NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) DEL Pathogenic
1071994 GRCh37: 8:27633987-27633991
GRCh38: 8:27776470-27776474
4 ESCO2 NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) INDEL Pathogenic
210961 rs797045565 GRCh37: 8:27637723-27637723
GRCh38: 8:27780206-27780206
5 ESCO2 NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) DUP Pathogenic
210962 rs797045566 GRCh37: 8:27637735-27637736
GRCh38: 8:27780218-27780219
6 ESCO2 NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) SNV Pathogenic
1735 rs80359868 GRCh37: 8:27657175-27657175
GRCh38: 8:27799658-27799658
7 ESCO2 NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) SNV Pathogenic
Pathogenic
1736 rs80359849 GRCh37: 8:27634330-27634330
GRCh38: 8:27776813-27776813
8 ESCO2 NM_001017420.3(ESCO2):c.751dup (p.Glu251fs) DUP Pathogenic
1737 rs1554554098 GRCh37: 8:27634575-27634576
GRCh38: 8:27777058-27777059
9 ESCO2 NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) DUP Pathogenic
Pathogenic
Pathogenic
1738 rs80359852 GRCh37: 8:27634576-27634577
GRCh38: 8:27777059-27777060
10 ESCO2 NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) SNV Pathogenic
1739 rs80359864 GRCh37: 8:27649485-27649485
GRCh38: 8:27791968-27791968
11 ESCO2 NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) SNV Pathogenic
1740 rs80359850 GRCh37: 8:27634429-27634429
GRCh38: 8:27776912-27776912
12 ESCO2 NM_001017420.3(ESCO2):c.1132-7A>G SNV Pathogenic
21234 rs80359862 GRCh37: 8:27646357-27646357
GRCh38: 8:27788840-27788840
13 ESCO2 NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs) DUP Pathogenic
21238 rs80359867 GRCh37: 8:27657156-27657157
GRCh38: 8:27799639-27799640
14 ESCO2 NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) MICROSAT Pathogenic
21242 rs80359845 GRCh37: 8:27634117-27634120
GRCh38: 8:27776600-27776603
15 ESCO2 NM_001017420.3(ESCO2):c.1131+1G>A SNV Pathogenic
Not Provided
21233 rs80359861 GRCh37: 8:27645520-27645520
GRCh38: 8:27788003-27788003
16 ESCO2 NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) DEL Pathogenic
Not Provided
21243 rs80359846 GRCh37: 8:27634131-27634135
GRCh38: 8:27776614-27776618
17 ESCO2 NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) MICROSAT Pathogenic
Not Provided
21251 rs80359857 GRCh37: 8:27637706-27637707
GRCh38: 8:27780189-27780190
18 ESCO2 NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) DUP Likely Pathogenic
Uncertain Significance
21232 rs80359859 GRCh37: 8:27645492-27645493
GRCh38: 8:27787975-27787976
19 ESCO2 NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) SNV Likely Pathogenic
158573 rs146312522 GRCh37: 8:27646407-27646407
GRCh38: 8:27788890-27788890
20 ESCO2 NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr) SNV Likely Pathogenic
1696827 GRCh37: 8:27646398-27646398
GRCh38: 8:27788881-27788881
21 ESCO2 NM_001017420.3(ESCO2):c.1013+1G>A SNV Likely Pathogenic
1067582 GRCh37: 8:27641575-27641575
GRCh38: 8:27784058-27784058
22 ESCO2 NM_001017420.3(ESCO2):c.862-2A>G SNV Likely Pathogenic
1028944 rs1804892169 GRCh37: 8:27637689-27637689
GRCh38: 8:27780172-27780172
23 ESCO2 NM_001017420.3(ESCO2):c.116dup (p.Asn39fs) DUP Likely Pathogenic
800869 rs1585389705 GRCh37: 8:27633937-27633938
GRCh38: 8:27776420-27776421
24 ESCO2 NM_001017420.3(ESCO2):c.956-2A>G SNV Likely Pathogenic
804409 rs1207909659 GRCh37: 8:27641515-27641515
GRCh38: 8:27783998-27783998
25 ESCO2 NM_001017420.3(ESCO2):c.53+8T>G SNV Uncertain Significance
912046 rs1804771076 GRCh37: 8:27633092-27633092
GRCh38: 8:27775575-27775575
26 ESCO2 NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val) SNV Uncertain Significance
289689 rs201354290 GRCh37: 8:27634129-27634129
GRCh38: 8:27776612-27776612
27 ESCO2 NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp) SNV Uncertain Significance
287532 rs143539004 GRCh37: 8:27634402-27634402
GRCh38: 8:27776885-27776885
28 ESCO2 NM_001017420.3(ESCO2):c.*266C>T SNV Uncertain Significance
912099 rs1805505685 GRCh37: 8:27661221-27661221
GRCh38: 8:27803704-27803704
29 ESCO2 NM_001017420.3(ESCO2):c.*538A>G SNV Uncertain Significance
908094 rs1472702455 GRCh37: 8:27661493-27661493
GRCh38: 8:27803976-27803976
30 ESCO2 NM_001017420.3(ESCO2):c.*697G>C SNV Uncertain Significance
908095 rs1016816951 GRCh37: 8:27661652-27661652
GRCh38: 8:27804135-27804135
31 ESCO2 NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile) SNV Uncertain Significance
909140 rs199665460 GRCh37: 8:27634487-27634487
GRCh38: 8:27776970-27776970
32 ESCO2 NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala) SNV Uncertain Significance
909141 rs1804808385 GRCh37: 8:27634522-27634522
GRCh38: 8:27777005-27777005
33 ESCO2 NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser) SNV Uncertain Significance
909987 rs138646734 GRCh37: 8:27641565-27641565
GRCh38: 8:27784048-27784048
34 ESCO2 NM_001017420.3(ESCO2):c.*770A>C SNV Uncertain Significance
910045 rs773539224 GRCh37: 8:27661725-27661725
GRCh38: 8:27804208-27804208
35 ESCO2 NM_001017420.3(ESCO2):c.*915A>G SNV Uncertain Significance
910046 rs867627204 GRCh37: 8:27661870-27661870
GRCh38: 8:27804353-27804353
36 ESCO2 NM_001017420.3(ESCO2):c.*1397T>A SNV Uncertain Significance
910047 rs1805526154 GRCh37: 8:27662352-27662352
GRCh38: 8:27804835-27804835
37 ESCO2 NM_001017420.3(ESCO2):c.*50T>C SNV Uncertain Significance
910875 rs757615491 GRCh37: 8:27661005-27661005
GRCh38: 8:27803488-27803488
38 ESCO2 NM_001017420.3(ESCO2):c.*155T>G SNV Uncertain Significance
362759 rs886062867 GRCh37: 8:27661110-27661110
GRCh38: 8:27803593-27803593
39 ESCO2 NM_001017420.3(ESCO2):c.402G>A (p.Lys134=) SNV Uncertain Significance
991267 rs1804800125 GRCh37: 8:27634227-27634227
GRCh38: 8:27776710-27776710
40 ESCO2 NM_001017420.3(ESCO2):c.*172G>C SNV Uncertain Significance
362760 rs539459940 GRCh37: 8:27661127-27661127
GRCh38: 8:27803610-27803610
41 ESCO2 NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) SNV Uncertain Significance
158575 rs587783624 GRCh37: 8:27634473-27634473
GRCh38: 8:27776956-27776956
42 ESCO2 NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=) SNV Uncertain Significance
158572 rs587783623 GRCh37: 8:27645432-27645432
GRCh38: 8:27787915-27787915
43 ESCO2 NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) SNV Uncertain Significance
362741 rs143530690 GRCh37: 8:27650324-27650324
GRCh38: 8:27792807-27792807
44 ESCO2 NM_001017420.3(ESCO2):c.*73_*76del DEL Uncertain Significance
362747 rs533417099 GRCh37: 8:27661026-27661029
GRCh38: 8:27803509-27803512
45 ESCO2 NM_001017420.3(ESCO2):c.*112AC[12] MICROSAT Uncertain Significance
Uncertain Significance
Uncertain Significance
Uncertain Significance
Uncertain Significance
Uncertain Significance
362752 rs56062620 GRCh37: 8:27661066-27661067
GRCh38: 8:27803549-27803550
46 ESCO2 NM_001017420.3(ESCO2):c.*534C>T SNV Uncertain Significance
362769 rs886062871 GRCh37: 8:27661489-27661489
GRCh38: 8:27803972-27803972
47 ESCO2 NM_001017420.3(ESCO2):c.*222T>C SNV Uncertain Significance
362761 rs886062868 GRCh37: 8:27661177-27661177
GRCh38: 8:27803660-27803660
48 ESCO2 NM_001017420.3(ESCO2):c.-44G>A SNV Uncertain Significance
362727 rs886062855 GRCh37: 8:27632097-27632097
GRCh38: 8:27774580-27774580
49 ESCO2 NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys) SNV Uncertain Significance
362731 rs199638838 GRCh37: 8:27634142-27634142
GRCh38: 8:27776625-27776625
50 ESCO2 NM_001017420.3(ESCO2):c.-17+15A>T SNV Uncertain Significance
362730 rs886062857 GRCh37: 8:27632139-27632139
GRCh38: 8:27774622-27774622

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 CDCA5 CHTF18 ESCO1 ESCO2 ESPL1 H2AC18
2
Show member pathways
12.97 WAPL STAG1 SMC3 SMC1A SGO1 RAD21
3
Show member pathways
12.83 CDCA5 ESPL1 HDAC8 PDS5A PDS5B RAD21
4
Show member pathways
12.74 STAG1 SMC3 SMC1A RAD21 H2AC18
5
Show member pathways
12.48 STAG1 SMC3 SMC1A RAD21 H2AC18
6
Show member pathways
12.32 STAG1 SMC3 SMC1A RAD21 ESPL1
7 12.27 WAPL SMC3 SMC1A RAD21
8 12.18 WAPL SMC3 SMC1A RAD21
9
Show member pathways
12.07 ESPL1 RAD21 SMC1A SMC3 STAG1
10 11.32 CDCA5 ESCO1 ESCO2 ESPL1 HDAC8 MAU2
11
Show member pathways
10.64 MAU2 NIPBL PDS5A PDS5B RAD21 SMC1A
12 10.59 SMC3 SMC1A RAD21

GO Terms for Roberts-Sc Phocomelia Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.65 CDCA5 CHTF18 DDX11 ERCC6 ESCO1 ESCO2
2 nucleoplasm GO:0005654 10.58 CDCA5 CHTF18 DDX11 ERCC6 ESCO1 ESCO2
3 chromatin GO:0000785 10.23 CDCA5 DDX11 ESCO1 ESCO2 MAU2 NIPBL
4 nuclear matrix GO:0016363 10.1 STAG1 SMC3 SMC1A RAD21
5 mitotic spindle pole GO:0097431 9.95 STAG1 SMC3 SMC1A
6 chromosome, centromeric region GO:0000775 9.91 CDCA5 PDS5A PDS5B RAD21 SGO1 SMC1A
7 cohesin complex GO:0008278 9.86 STAG1 SMC3 SMC1A RAD21
8 meiotic cohesin complex GO:0030893 9.8 SMC3 SMC1A RAD21
9 SMC loading complex GO:0032116 9.76 MAU2 NIPBL
10 chromosome GO:0005694 9.74 WAPL STAG1 SMC3 SMC1A SGO1 RAD21
11 Scc2-Scc4 cohesin loading complex GO:0090694 9.73 MAU2 NIPBL
12 Ctf18 RFC-like complex GO:0031390 9.7 DDX11 CHTF18
13 DNA packaging complex GO:0044815 9.51 SMC3 SMC1A

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 10.32 CDCA5 MAU2 PDS5A PDS5B RAD21 SGO1
2 DNA repair GO:0006281 10.25 DDX11 ERCC6 PDS5A PDS5B RAD21 SMC1A
3 cellular response to DNA damage stimulus GO:0006974 10.15 DDX11 ERCC6 NIPBL RAD21 SMC1A SMC3
4 mitotic cell cycle GO:0000278 10.14 WDHD1 SMC3 ESPL1 CDCA5
5 double-strand break repair GO:0006302 10.09 RAD21 ESCO2 CDCA5
6 regulation of DNA replication GO:0006275 10.06 ESCO1 ESCO2 SMC3
7 mitotic spindle assembly GO:0090307 10.05 STAG1 SMC3 SMC1A
8 mitotic sister chromatid segregation GO:0000070 10.03 SMC1A SGO1 ESPL1
9 sister chromatid cohesion GO:0007062 9.97 DDX11 ESCO1 HDAC8 RAD21 SMC1A SMC3
10 establishment of mitotic sister chromatid cohesion GO:0034087 9.96 STAG1 SMC3 SMC1A RAD21 NIPBL
11 protein localization to chromatin GO:0071168 9.95 ESCO2 RAD21 WAPL
12 regulation of cohesin loading GO:0071922 9.93 WAPL HDAC8 CDCA5
13 homologous chromosome segregation GO:0045143 9.91 SGO1 ESPL1
14 establishment of meiotic sister chromatid cohesion GO:0034089 9.91 SMC3 SMC1A RAD21
15 chromosome segregation GO:0007059 9.91 STAG1 SGO1 RAD21 MAU2 ESPL1 ESCO2
16 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.89 RAD21 NIPBL
17 maintenance of mitotic sister chromatid cohesion GO:0034088 9.87 NIPBL MAU2
18 cell cycle GO:0007049 9.86 WAPL STAG1 SMC3 SMC1A SGO1 RAD21
19 positive regulation of sister chromatid cohesion GO:0045876 9.84 RAD21 DDX11
20 post-translational protein acetylation GO:0034421 9.83 ESCO2 ESCO1
21 cohesin loading GO:0071921 9.81 NIPBL MAU2
22 negative regulation of sister chromatid cohesion GO:0045875 9.8 WAPL ESPL1
23 mitotic sister chromatid cohesion GO:0007064 9.55 SMC3 SMC1A PDS5B PDS5A NIPBL MAU2

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

# Name GO ID Score Top Affiliating Genes
1 ATP hydrolysis activity GO:0016887 9.96 SMC3 SMC1A ERCC6 DDX11 CHTF18
2 chromatin binding GO:0003682 9.58 WDHD1 STAG1 SMC3 SMC1A RAD21 NIPBL
3 peptide-lysine-N-acetyltransferase activity GO:0061733 9.46 ESCO2 ESCO1
4 mediator complex binding GO:0036033 9.43 SMC3 SMC1A NIPBL

Sources for Roberts-Sc Phocomelia Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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