MCID: PRR016
MIFTS: 56

Pierre Robin Syndrome

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Pierre Robin Syndrome

MalaCards integrated aliases for Pierre Robin Syndrome:

Name: Pierre Robin Syndrome 57 13
Pierre Robin Sequence 57 53 55
Glossoptosis, Micrognathia, and Cleft Palate 57 53
Isolated Pierre Robin Sequence 59
Isolated Pierre Robin Syndrome 59
Pierre Robin's Sequence 76
Pierre-Robin Syndrome 53
Prbns 57

Characteristics:

Orphanet epidemiological data:

59
isolated pierre robin syndrome
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Netherlands); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive
also an x-linked form and associated with trisomy 18 and other syndromes


HPO:

32
pierre robin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 261800
Orphanet 59 ORPHA718
UMLS via Orphanet 74 C0031900
ICD10 via Orphanet 34 Q87.0
MedGen 42 C0031900

Summaries for Pierre Robin Syndrome

NIH Rare Diseases : 53 Pierre Robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate). This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur alone (isolated) or be associated with a variety of other signs and symptoms (described as syndromic). In about 20 to 40 percent of cases, the condition occurs alone. The exact causes of Pierre Robin syndrome are unknown. Changes (mutations) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence. Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.   

MalaCards based summary : Pierre Robin Syndrome, also known as pierre robin sequence, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 15 with mandibulofacial dysostosis. An important gene associated with Pierre Robin Syndrome is MED13L (Mediator Complex Subunit 13 Like), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs Cobalt and Temazepam have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and heart, and related phenotypes are glossoptosis and cleft palate

OMIM : 57 Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013). (261800)

Wikipedia : 76 Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin sequence, Pierre Robin... more...

Related Diseases for Pierre Robin Syndrome

Diseases related to Pierre Robin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 32.1 RPL5 RPS19
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 31.4 RPS26 RPS28 TSR2
3 pierre robin syndrome and oligodactyly 12.4
4 pierre robin syndrome skeletal dysplasia polydactyly 12.1
5 contractures-developmental delay-pierre robin syndrome 12.1
6 catel-manzke syndrome 12.1
7 otospondylomegaepiphyseal dysplasia, autosomal dominant 12.0
8 tarp syndrome 11.5
9 isolated pierre robin sequence 11.3
10 robin sequence with cleft mandible and limb anomalies 11.1
11 pierre robin sequence with facial and digital anomalies 11.1
12 robin sequence with distinctive facial appearance and brachydactyly 11.1
13 chitayat meunier hodgkinson syndrome 11.1
14 hypoglossia-hypodactylia 11.1
15 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.1
16 diamond-blackfan anemia 3 11.1
17 diamond-blackfan anemia 4 11.1
18 diamond-blackfan anemia 5 11.1
19 diamond-blackfan anemia 6 11.1
20 diamond-blackfan anemia 7 11.1
21 diamond-blackfan anemia 8 11.1
22 diamond-blackfan anemia 9 11.1
23 diamond-blackfan anemia 10 11.1
24 diamond-blackfan anemia 11 11.1
25 diamond-blackfan anemia 12 11.1
26 diamond-blackfan anemia 13 11.1
27 diamond-blackfan anemia 16 11.1
28 diamond-blackfan anemia 17 11.1
29 laryngitis 10.3
30 irregular astigmatism 10.3 RPS27 RPS29
31 cleft palate, isolated 10.2
32 sacral defect with anterior meningocele 10.1
33 nasopharyngitis 10.1
34 cardiomyopathy, familial hypertrophic, 20 10.0 RPS26 RPS29
35 ankyloglossia 9.9
36 choanal atresia, posterior 9.9
37 hepatitis 9.9
38 congenital hypothyroidism 9.9
39 stickler syndrome 9.9
40 hypothyroidism 9.9
41 dysostosis 9.9
42 astrocytoma 9.9
43 grade iii astrocytoma 9.9
44 teratoma 9.9
45 cleft lip 9.9
46 congenital hepatic fibrosis 9.9
47 cleft tongue 9.9
48 heart tumor 9.9
49 neonatal hypothyroidism 9.9
50 nasopharyngeal teratoma 9.9

Graphical network of the top 20 diseases related to Pierre Robin Syndrome:



Diseases related to Pierre Robin Syndrome

Symptoms & Phenotypes for Pierre Robin Syndrome

Symptoms via clinical synopsis from OMIM:

57
Mouth:
glossoptosis
cleft palate
micrognathia

Cardiac:
cor pulmonale

Resp:
neonatal respiratory distress
upper airway obstruction

GI:
neonatal feeding problems


Clinical features from OMIM:

261800

Human phenotypes related to Pierre Robin Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossoptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000162
2 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormality of the pharynx 59 32 frequent (33%) Frequent (79-30%) HP:0000600
5 neonatal respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002643
6 upper airway obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0002781
7 pierre-robin sequence 32 HP:0000201
8 cor pulmonale 32 HP:0001648
9 feeding difficulties in infancy 32 HP:0008872

GenomeRNAi Phenotypes related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

26 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.7 RPL5 RPS17 RPS19 RPS29 RPS7
2 Decreased viability GR00240-S-1 10.7 RPL15 RPS28
3 Decreased viability GR00381-A-1 10.7 RPS19 RBM10 RPL11 RPL15 RPL27 RPL35A
4 Decreased viability GR00402-S-2 10.7 RPL5 RPS17 RPS19 RPS29 RPS7 RPL11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 RPS19
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.51 RPS29
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.51 RPS17 RPS19 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.51 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.51 RPS17
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.51 RPS29
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.51 RPS17 RPS19 RPS29
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.51 RPS19
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.51 RPS19
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.51 RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.51 RPS17 RPS19
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.51 RPS17
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.51 RPS17
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.51 RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.51 RPS17
20 Decreased NF-kappaB reporter expression GR00312-A 10.37 RPS7 RBM10 RPL11 RPL15 RPL26 RPL27
21 FOXO1 nuclear localization GR00247-A-1 10.36 RPL11 RPL15 RPS24 RPS7
22 FOXO1 nuclear localization GR00247-A-2 10.36 RPL11 RPL15 RPS24 RPS7
23 Increased G1 DNA content GR00098-A-1 10.21 RPL27 RPL35A RPL5 RPS17 RPS19 RPS24
24 Increased viability GR00386-A-1 10.17 RPL5 RPS10 RPS17 RPS19 RPS24 RPS28
25 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.13 RPS17 RPS19 RPS26 RPS7 RPS10 RPL11
26 G0/1 arrest GR00098-A-2 10.03 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
27 Decreased Hepatitis C virus replication GR00180-A-1 10.01 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7
28 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.86 RPL11 RPL15 RPL27 RPL35A RPS17 RPS19
29 Decreased cell number GR00303-A 9.85 RPL5 RPS19 RPS29 RPL11
30 HIV Rev nuclear localization GR00247-A-3 9.71 RPL11 RPL15 RPS24 RPS7
31 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS17 RPS26 RPS28 RPS29
32 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.44 RPL11 RPL26 RPL27 RPL35A RPL5 RPS10
33 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL11 RPL26 RPL27 RPL35A RPL5

Drugs & Therapeutics for Pierre Robin Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cobalt Phase 1 7440-48-4 104729
2
Temazepam Approved, Investigational Not Applicable 846-50-4 5391
3 threonine Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Comparison Between Two Video Laryngoscopes,in Successfully Intubating Pediatric Mannequins w/wo Difficult Airways Completed NCT02198742 Phase 1
2 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
3 Early Treatment Outcomes in Pierre-Robin-Like Phenotype Completed NCT02266043
4 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
5 Functional Modeling of the Pediatric Airway Completed NCT01690078
6 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Recruiting NCT03194178
7 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017 Not Applicable
8 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843 Not Applicable
9 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable
10 Pierre Robin Sequence Outcome Assessment Multi Institutional Study Withdrawn NCT02432638

Search NIH Clinical Center for Pierre Robin Syndrome

Genetic Tests for Pierre Robin Syndrome

Anatomical Context for Pierre Robin Syndrome

MalaCards organs/tissues related to Pierre Robin Syndrome:

41
Tongue, Eye, Heart, Testes, Thymus, Bone

Publications for Pierre Robin Syndrome

Articles related to Pierre Robin Syndrome:

(show top 50) (show all 285)
# Title Authors Year
1
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. ( 29159987 )
2018
2
Pierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes. ( 29651537 )
2018
3
The Effect of Mandibular Distraction Osteogenesis on Weight Velocity in Infants With Severe Pierre Robin Syndrome. ( 29863566 )
2018
4
Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient. ( 28557592 )
2017
5
A Simple Mandibular Distraction Protocol to Avoid Tracheostomy in Patients With Pierre Robin Sequence. ( 26068388 )
2017
6
Identical twins with Pierre Robin syndrome; unusual encounter. ( 28713498 )
2017
7
BMPR1B mutation causes Pierre Robin sequence. ( 28418932 )
2017
8
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
9
A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome. ( 28790548 )
2017
10
Distraction Osteogenesis for Management of Severe OSA in Pierre Robin Sequence: An Approach to Elude Tracheostomy in Infants. ( 27833343 )
2016
11
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
12
Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 2: Syndromic and nonsyndromic Pierre Robin sequence. ( 27563604 )
2016
13
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. ( 27264987 )
2016
14
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel a811 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. ( 26663529 )
2016
15
Our Experience With Regional Anesthesia in a Case of Pierre Robin Syndrome. ( 27110537 )
2016
16
Numerical modeling of the traction process in the treatment for Pierre-Robin Sequence. ( 27619035 )
2016
17
Evaluation of upper airway obstruction in infants with Pierre Robin sequence and the role of polysomnography--Review of current evidence. ( 26563513 )
2016
18
Multidisciplinary Aspects of 104 Patients With Pierre Robin Sequence. ( 25554857 )
2015
19
Imaging neonates and children with Pierre Robin sequence before and after mandibular distraction osteogenesis: what the craniofacial surgeon wants to know. ( 25792154 )
2015
20
Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence. ( 25848803 )
2015
21
A de novo 1.58a88Mb deletion, including MAP2K6 and mapping 1.28a88Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. ( 26059046 )
2015
22
Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review. ( 26187812 )
2015
23
Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy. ( 25847371 )
2015
24
Piezosurgery: A new and safe technique for distraction osteogenesis in Pierre Robin sequence review of the literature and case report. ( 25555147 )
2015
25
Management of obstructive sleep apnea in a developmentally delayed pediatric patient with aggressive behavior and Pierre Robin sequence. ( 25580604 )
2015
26
Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome. ( 26540157 )
2015
27
Pierre Robin sequence: review of diagnostic and treatment challenges. ( 25704848 )
2015
28
Oral to nasal endotracheal tube exchange using an airway exchange catheter in a neonate with Pierre Robin Sequence. ( 25468589 )
2015
29
Nager syndrome and Pierre Robin sequence. ( 25808856 )
2015
30
A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. ( 24699068 )
2014
31
Discussion: The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24867726 )
2014
32
Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence. ( 25052512 )
2014
33
Heart Failure in an Infant With Pierre Robin Sequence: Is There a Diagnostic Test to Aid in Treatment Planning and Monitoring? ( 25531737 )
2014
34
Bilateral Hypodontia in Children With Pierre Robin Sequence. ( 25058123 )
2014
35
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. ( 25493098 )
2014
36
Surgical considerations in pierre robin sequence. ( 24607189 )
2014
37
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. ( 25195018 )
2014
38
Discussion: The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24867725 )
2014
39
Regional variations in the presentation and surgical management of Pierre Robin sequence. ( 24965828 )
2014
40
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. ( 25043979 )
2014
41
Esophageal dislodgement of an endotracheal tube during nasopharyngeal oxygenation in a neonate with Pierre-Robin sequence: a case report. ( 24862818 )
2014
42
Prevalence and patterns of permanent tooth agenesis in patients with nonsyndromic Pierre Robin sequence. ( 24703283 )
2014
43
Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome. ( 25376137 )
2014
44
The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24569425 )
2014
45
Semi-automatic volumetric segmentation of the upper airways in patients with pierre robin sequence. ( 25196625 )
2014
46
Reaction to: Persson et al. Educational achievements in Pierre Robin sequence. J Plast Surg Hand Surg 2013;47(1):36-9. ( 24909823 )
2014
47
Primary aerodigestive presentations of Pierre Robin sequence/complex and predictive factors of airway type and management. ( 25139132 )
2014
48
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. ( 24363063 )
2014
49
Outcomes analysis of neonates treated for pierre robin sequence: an 18-year experience. ( 25254680 )
2014
50
Pierre Robin Sequence: a perioperative review. ( 25046788 )
2014

Variations for Pierre Robin Syndrome

ClinVar genetic disease variations for Pierre Robin Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
2 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
3 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
4 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
5 46;XX;t(1;13)(p36.1;q12.1)dn Translocation Uncertain significance
6 46;XX;t(6;7;17)(p23;p22;q25)pat Translocation Uncertain significance
7 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance

Expression for Pierre Robin Syndrome

Search GEO for disease gene expression data for Pierre Robin Syndrome.

Pathways for Pierre Robin Syndrome

Pathways related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 MED13L RPL11 RPL15 RPL26 RPL27 RPL35A
2
Show member pathways
13.71 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3
Show member pathways
13.67 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4
Show member pathways
13.6 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5
Show member pathways
13.5 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6
Show member pathways
12.48 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7
Show member pathways
12.3 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8
Show member pathways
12.2 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27

GO Terms for Pierre Robin Syndrome

Cellular components related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 9.83 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 rough endoplasmic reticulum GO:0005791 9.81 RPL27 RPS26 RPS28 RPS29
3 cytosolic large ribosomal subunit GO:0022625 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4 polysomal ribosome GO:0042788 9.71 RPL11 RPS26 RPS28 RPS29
5 small ribosomal subunit GO:0015935 9.67 RPS24 RPS26 RPS28 RPS29
6 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.56 RPL27 RPS26 RPS28 RPS29
7 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8 cytosol GO:0005829 10.37 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
9 nucleus GO:0005634 10.35 MED13L RBM10 RPL11 RPL15 RPL27 RPL5
10 nucleoplasm GO:0005654 10.29 RPL11 RPL26 RPL5 RPS10 RPS17 RPS19
11 extracellular exosome GO:0070062 10.25 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
12 nucleolus GO:0005730 10 RPL11 RPL26 RPL5 RPS10 RPS19 RPS7
13 focal adhesion GO:0005925 10 RPL27 RPL5 RPS10 RPS17 RPS19 RPS29
14 intracellular GO:0005622 10 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

Biological processes related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 RPL11 RPL5 RPS7 SOX9
2 ribosomal small subunit biogenesis GO:0042274 9.85 RPS17 RPS19 RPS24 RPS28 RPS7
3 ribosomal small subunit assembly GO:0000028 9.83 RPS10 RPS17 RPS19 RPS27 RPS28
4 translation GO:0006412 9.83 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 ribosomal large subunit biogenesis GO:0042273 9.78 RPL11 RPL26 RPL35A RPL5
6 protein stabilization GO:0050821 9.76 RPL11 RPL5 RPS7
7 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 RPS19 RPS24 TSR2
8 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPL11 RPL5 RPS7
9 negative regulation of ubiquitin protein ligase activity GO:1904667 9.67 RPL11 RPL5 RPS7
10 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
11 maturation of SSU-rRNA GO:0030490 9.56 RPS19 RPS28
12 erythrocyte homeostasis GO:0034101 9.55 RPS17 RPS24
13 negative regulation of protein neddylation GO:2000435 9.54 RPL11 RPL5
14 cytoplasmic translation GO:0002181 9.23 RPL11 RPL15 RPL26 RPL35A RPS26 RPS28
15 rRNA processing GO:0006364 10.31 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
16 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 10.24 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
17 translational initiation GO:0006413 10.2 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
18 viral transcription GO:0019083 10.13 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
19 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.03 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

Molecular functions related to Pierre Robin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.86 RBM10 RPL11 RPL15 RPL26 RPL27 RPL35A
2 structural constituent of ribosome GO:0003735 9.5 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3 mRNA 5-UTR binding GO:0048027 9.43 RPL26 RPL5 RPS7
4 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPL11 RPL5 RPS7
5 5S rRNA binding GO:0008097 9.32 RPL11 RPL5

Sources for Pierre Robin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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