MCID: PRR016
MIFTS: 57

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 53 13
Pierre Robin Sequence 53 49 51
Glossoptosis, Micrognathia, and Cleft Palate 53 49
Isolated Pierre Robin Sequence 55
Isolated Pierre Robin Syndrome 55
Pierre Robin's Sequence 72
Pierre-Robin Syndrome 49
Pierre-Robin Sequence 28
Prbns 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive
also an x-linked form and associated with trisomy 18 and other syndromes


HPO:

31
pierre robin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 261800
Orphanet 55 ORPHA718
UMLS via Orphanet 70 C0031900
ICD10 via Orphanet 33 Q87.0
MedGen 39 C0031900

Summaries for Pierre Robin Syndrome

NIH Rare Diseases : 49 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.    Last updated: 5/16/2016

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, and has symptoms including glossoptosis, cleft palate and micrognathia. An important gene associated with Pierre Robin Syndrome is SOX9 (SRY-Box 9), 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 Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 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 : 72 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 51)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 31.8 RPL5 RPS19
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 31.3 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 11.7
7 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.5
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 10.2 RPS27 RPS29
31 cleft palate, isolated 10.1
32 fibrosis of extraocular muscles, congenital, 1 9.9
33 sacral defect with anterior meningocele 9.9
34 choanal atresia, posterior 9.9
35 hepatitis 9.9
36 congenital hypothyroidism 9.9
37 stickler syndrome 9.9
38 nasopharyngitis 9.9
39 heart disease 9.9
40 hypothyroidism 9.9
41 dysostosis 9.9
42 astrocytoma 9.9
43 teratoma 9.9
44 cleft lip 9.9
45 congenital hepatic fibrosis 9.9
46 heart tumor 9.9
47 nasopharyngeal teratoma 9.9
48 bone deterioration disease 9.8 RPS17 SOX9
49 congenital hypoplastic anemia 9.7 RPL11 RPL5 RPS17 RPS19
50 macrocytic anemia 7.1 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

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:

53
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:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossoptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000162
2 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormality of the pharynx 55 31 frequent (33%) Frequent (79-30%) HP:0000600
5 neonatal respiratory distress 55 31 frequent (33%) Frequent (79-30%) HP:0002643
6 upper airway obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0002781
7 feeding difficulties in infancy 31 HP:0008872
8 pierre-robin sequence 31 HP:0000201
9 cor pulmonale 31 HP:0001648

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

25 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.55 RPS19
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.55 RPS29
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.55 RPS17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.55 RPS19 RPS17 RPS29
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.55 RPS29
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.55 RPS17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.55 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.55 RPS19 RPS17 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.55 RPS19
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.55 RPS19
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.55 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.55 RPS19 RPS17
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.55 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.55 RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.55 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.55 RPS17
17 Decreased viability GR00106-A-0 10.46 RPL5 RPS19 RPS17 RPS7 RPS29
18 Decreased viability GR00240-S-1 10.46 RPS28 RPL15
19 Decreased viability GR00381-A-1 10.46 RPS19 RPS24 RPS26 RPS28 RPL11 RPL27
20 Decreased NF-kappaB reporter expression GR00312-A 10.38 RPS10 RPS17 RPS24 RPS19 RPS28 RPS7
21 FOXO1 nuclear localization GR00247-A-1 10.38 RPS7 RPS24 RPL11 RPL15
22 FOXO1 nuclear localization GR00247-A-2 10.38 RPS7 RPS24 RPL11 RPL15
23 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.3 RPS29
24 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.3 RPS29
25 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.3 RPS29
26 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.3 RPS19
27 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.3 SOX9
28 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.3 RPS19
29 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.3 RPS19 RPS29 SOX9
30 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.3 RPS29
31 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.3 RPS29 SOX9
32 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.3 SOX9
33 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.3 RPS29
34 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.3 SOX9
35 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.3 SOX9
36 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.3 RPS29
37 Increased G1 DNA content GR00098-A-1 10.22 RPS17 RPS24 RPS19 RPS26 RPS7 RPS29
38 Increased viability GR00386-A-1 10.17 RPS19 RPS10 RPS17 RPS24 RPL5 RPS28
39 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.1 RPS10 RPS17 RPL5 RPS26 RPS7 RPL11
40 G0/1 arrest GR00098-A-2 10.06 RPS24 RPS19 RPS26 RPS7 RPS29 RPL11
41 Decreased Hepatitis C virus replication GR00180-A-1 10.02 RPS24 RPS19 RPS26 RPS28 RPS7 RPS29
42 Decreased cell number GR00303-A 9.86 RPL5 RPS19 RPS29 RPL11
43 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.86 RPS19 RPS17 RPS26 RPS7 RPL11 RPL27
44 HIV Rev nuclear localization GR00247-A-3 9.73 RPS24 RPS7 RPL11 RPL15
45 Nuclear 40S maturation defects GR00209-A-2 9.63 RPS10 RPS17 RPS26 RPS28 RPS29 RPL11
46 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.44 RPS10 RPS17 RPS24 RPS26 RPS27 RPS28
47 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL5 RPL26 RPL11 RPL27 RPL35A

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 846-50-4 5391
3 threonine Nutraceutical

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
3 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
4 Functional Modeling of the Pediatric Airway Completed NCT01690078
5 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Recruiting NCT03194178
6 Early Treatment Outcomes in Pierre-Robin-Like Phenotype Active, not recruiting NCT02266043
7 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
8 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Not yet recruiting NCT03423017
9 Pierre Robin Sequence Outcome Assessment Multi Institutional Study Withdrawn NCT02432638

Search NIH Clinical Center for Pierre Robin Syndrome

Genetic Tests for Pierre Robin Syndrome

Genetic tests related to Pierre Robin Syndrome:

# Genetic test Affiliating Genes
1 Pierre-Robin Sequence 28

Anatomical Context for Pierre Robin Syndrome

MalaCards organs/tissues related to Pierre Robin Syndrome:

38
Tongue, Eye, Heart, Bone

Publications for Pierre Robin Syndrome

Articles related to Pierre Robin Syndrome:

(show top 50) (show all 268)
# Title Authors Year
1
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
2
Identical twins with Pierre Robin syndrome; unusual encounter. ( 28713498 )
2017
3
Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient. ( 28557592 )
2017
4
A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome. ( 28790548 )
2017
5
Response to Dr. Al-Ani's letter: Klippel-Feil Syndrome associated with Pierre Robin Sequence and mandibular duplication. ( 27264987 )
2016
6
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
7
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
8
Our Experience With Regional Anesthesia in a Case of Pierre Robin Syndrome. ( 27110537 )
2016
9
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
10
Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review. ( 26187812 )
2015
11
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
12
Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence. ( 25848803 )
2015
13
Multidisciplinary Aspects of 104 Patients With Pierre Robin Sequence. ( 25554857 )
2015
14
Piezosurgery: A new and safe technique for distraction osteogenesis in Pierre Robin sequence review of the literature and case report. ( 25555147 )
2015
15
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
16
Oral to nasal endotracheal tube exchange using an airway exchange catheter in a neonate with Pierre Robin Sequence. ( 25468589 )
2015
17
Management of obstructive sleep apnea in a developmentally delayed pediatric patient with aggressive behavior and Pierre Robin sequence. ( 25580604 )
2015
18
Nager syndrome and Pierre Robin sequence. ( 25808856 )
2015
19
Pierre Robin sequence: review of diagnostic and treatment challenges. ( 25704848 )
2015
20
Imaging neonates and children with Pierre Robin sequence before and after mandibular distraction osteogenesis: what the craniofacial surgeon wants to know. ( 25792154 )
2015
21
Regional variations in the presentation and surgical management of Pierre Robin sequence. ( 24965828 )
2014
22
Semi-automatic volumetric segmentation of the upper airways in patients with pierre robin sequence. ( 25196625 )
2014
23
Reaction to: Persson et al. Educational achievements in Pierre Robin sequence. J Plast Surg Hand Surg 2013;47(1):36-9. ( 24909823 )
2014
24
Bilateral Hypodontia in Children With Pierre Robin Sequence. ( 25058123 )
2014
25
Pierre Robin Sequence: a perioperative review. ( 25046788 )
2014
26
Surgical considerations in pierre robin sequence. ( 24607189 )
2014
27
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. ( 25043979 )
2014
28
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. ( 24934569 )
2014
29
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. ( 24363063 )
2014
30
Combined use of a McGrathAr MAC video laryngoscope and Frova Intubating Introducer in a patient with Pierre Robin syndrome: a case report. ( 24851168 )
2014
31
Pierre robin sequence in a neonate with suckling difficulty and weight loss. ( 25170043 )
2014
32
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. ( 25195018 )
2014
33
Fast and early mandibular osteodistraction (FEMOD) in severe Pierre Robin Sequence. ( 24787079 )
2014
34
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. ( 25493098 )
2014
35
Discussion: The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24867725 )
2014
36
Esophageal dislodgement of an endotracheal tube during nasopharyngeal oxygenation in a neonate with Pierre-Robin sequence: a case report. ( 24862818 )
2014
37
A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. ( 24699068 )
2014
38
Primary aerodigestive presentations of Pierre Robin sequence/complex and predictive factors of airway type and management. ( 25139132 )
2014
39
The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24569425 )
2014
40
Outcomes analysis of neonates treated for pierre robin sequence: an 18-year experience. ( 25254680 )
2014
41
Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence. ( 25052512 )
2014
42
Discussion: The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24867726 )
2014
43
Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome. ( 25376137 )
2014
44
Heart Failure in an Infant With Pierre Robin Sequence: Is There a Diagnostic Test to Aid in Treatment Planning and Monitoring? ( 25531737 )
2014
45
Prevalence and patterns of permanent tooth agenesis in patients with nonsyndromic Pierre Robin sequence. ( 24703283 )
2014
46
Educational achievements in Pierre Robin Sequence. ( 23210498 )
2013
47
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. ( 22447382 )
2013
48
Management of airway and feeding difficulties in a neonate with Pierre Robin sequence: a case report. ( 23411469 )
2013
49
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. ( 23532965 )
2013
50
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence. ( 23913759 )
2013

Variations for Pierre Robin Syndrome

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
13.94 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
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 12)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 RPL11 RPL26 RPL5 RPS10 RPS19 RPS7
2 extracellular matrix GO:0031012 9.95 RPL11 RPL27 RPL35A RPS10 RPS17 RPS19
3 ribosome GO:0005840 9.83 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4 cytosolic large ribosomal subunit GO:0022625 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 small ribosomal subunit GO:0015935 9.67 RPS24 RPS26 RPS28 RPS29
6 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
7 cytosol GO:0005829 10.37 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8 nucleoplasm GO:0005654 10.29 RPL11 RPL26 RPL5 RPS10 RPS17 RPS19
9 extracellular exosome GO:0070062 10.25 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
10 intracellular GO:0005622 10.1 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
11 intracellular ribonucleoprotein complex GO:0030529 10.03 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
12 focal adhesion GO:0005925 10 RPL27 RPL5 RPS10 RPS17 RPS19 RPS29

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

(show all 20)
# 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 9.83 RPS17 RPS19 RPS24 RPS28 RPS7
3 translational initiation GO:0006413 9.83 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS17 RPS19 RPS27 RPS28
5 ribosomal large subunit biogenesis GO:0042273 9.78 RPL11 RPL26 RPL35A RPL5
6 protein stabilization GO:0050821 9.76 RPL11 RPL5 RPS7
7 cytoplasmic translation GO:0002181 9.76 RPL15 RPL26 RPL35A RPS7
8 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 RPS19 RPS24 TSR2
9 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPL11 RPL5 RPS7
10 negative regulation of ubiquitin protein ligase activity GO:1904667 9.67 RPL11 RPL5 RPS7
11 protein localization to nucleus GO:0034504 9.59 RPL11 SOX9
12 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
13 maturation of SSU-rRNA GO:0030490 9.56 RPS19 RPS28
14 erythrocyte homeostasis GO:0034101 9.55 RPS17 RPS24
15 negative regulation of protein neddylation GO:2000435 9.54 RPL11 RPL5
16 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.5 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
17 rRNA processing GO:0006364 10.27 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
18 viral transcription GO:0019083 10.2 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
19 translation GO:0006412 10.13 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
20 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 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 9.83 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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