MCID: PRR016
MIFTS: 49

Pierre Robin Syndrome malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Pierre Robin Syndrome

About this section
Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pierre Robin Syndrome:

Name: Pierre Robin Syndrome 52 12
Pierre Robin Sequence 48 27 50
Glossoptosis, Micrognathia, and Cleft Palate 48
 
Isolated Pierre Robin Sequence 54
Isolated Pierre Robin Syndrome 54
Pierre-Robin Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
isolated pierre robin sequence:
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Netherlands); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
pierre robin syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 261800
Orphanet54 ORPHA718
ICD10 via Orphanet31 Q87.0

Summaries for Pierre Robin Syndrome

About this section
NIH Rare Diseases:48 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 pierre robin syndrome and oligodactyly and pierre robin syndrome skeletal dysplasia polydactyly, 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 are Translational Control and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Affiliated tissues include tongue, eye and bone, and related mouse phenotypes are HIV Rev nuclear localization and Decreased cell number.

OMIM:52 Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and... (261800) more...

Wikipedia:71 Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin sequence, Pierre Robin... more...

Related Diseases for Pierre Robin Syndrome

About this section

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin syndrome and oligodactyly12.0
2pierre robin syndrome skeletal dysplasia polydactyly12.0
3contractures-developmental delay-pierre robin syndrome12.0
4catel-manzke syndrome11.5
5weissenbacher-zweymuller syndrome11.4
6tarp syndrome11.3
7isolated pierre robin sequence11.1
8stickler syndrome, type iii11.0
9robin sequence with cleft mandible and limb anomalies11.0
10pierre robin sequence with facial and digital anomalies11.0
11robin sequence with distinctive facial appearance and brachydactyly11.0
12chitayat meunier hodgkinson syndrome11.0
13diamond-blackfan anemia 711.0
14diamond-blackfan anemia 611.0
15diamond-blackfan anemia 811.0
16diamond-blackfan anemia 1211.0
17diamond-blackfan anemia 511.0
18diamond-blackfan anemia 911.0
19diamond-blackfan anemia 311.0
20diamond-blackfan anemia 1011.0
21diamond-blackfan anemia 1311.0
22diamond-blackfan anemia 411.0
23diamond-blackfan anemia 1111.0
24diamond blackfan anemia 15 with mandibulofacial dysostosis11.0
25diamond-blackfan anemia 111.0
26diamond-blackfan anemia 14 with mandibulofacial dysostosis11.0
27hypoglossia-hypodactylia11.0
28laryngitis10.2
29dengue hemorrhagic fever10.1RPS17, SOX9
30caudal regression syndrome9.9
31hepatitis9.9
32congenital hypothyroidism9.9
33stickler syndrome9.9
34nasopharyngitis9.9
35hypothyroidism9.9
36astrocytoma9.9
37teratoma9.9
38cleft lip9.9
39congenital hepatic fibrosis9.9
40nasopharyngeal teratoma9.9
41bone structure disease9.8RPS17, SOX9
42mental retardation, autosomal dominant 169.7RPS26, RPS28, TSR2
43bejel8.3RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19
44dilated cardiomyopathy6.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
45west nile encephalitis6.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
46delayed sleep phase syndrome5.3PRBNS, RBM10, RPL11, RPL15, RPL26, RPL35A

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



Diseases related to pierre robin syndrome

Symptoms & Phenotypes for Pierre Robin Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

261800

Clinical features from OMIM:

261800

Human phenotypes related to Pierre Robin Syndrome:

 64 54 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossoptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000162
2 cleft palate64 54 hallmark (90%) Very frequent (99-80%) HP:0000175
3 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormality of the pharynx64 54 typical (50%) Frequent (79-30%) HP:0000600
5 respiratory insufficiency64 typical (50%) HP:0002093
6 pierre-robin sequence64 HP:0000201
7 cor pulmonale64 HP:0001648
8 neonatal respiratory distress64 54 Frequent (79-30%) HP:0002643
9 upper airway obstruction64 54 Frequent (79-30%) HP:0002781
10 feeding difficulties in infancy64 HP:0008872

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

26
(show all 16)
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00247-A-39.7RPL11, RPL15, RPS24, RPS7
2GR00303-A9.7RPL11, RPL5, RPS19, RPS29
3GR00366-A-359.7RPS19, RPS29, SOX9
4GR00209-A-39.6RPL11, RPL26, RPL35A, RPL5
5GR00180-A-19.4RPS19, RPS24, RPS26, RPS28, RPS29, RPS7
6GR00366-A-589.4RPS17, RPS19, RPS29
7GR00098-A-28.8RPL11, RPL35A, RPS19, RPS24, RPS26, RPS29
8GR00209-A-28.8RPL11, RPS10, RPS17, RPS26, RPS28, RPS29
9GR00255-A-58.6RPL11, RPL15, RPL35A, RPS17, RPS19, RPS26
10GR00247-A-28.1RPL11, RPL15, RPS24, RPS7, RPL11, RPL15
11GR00196-A-17.6RPL11, RPL15, RPL35A, RPL5, RPS10, RPS17
12GR00209-A-17.0RPL11, RPL26, RPL35A, RPL5, RPS10, RPS17
13GR00381-A-16.6RPL5, RPS17, RPS19, RPS29, RPS7, RBM10
14GR00098-A-16.5RPL11, RPL15, RPL26, RPL35A, RPL5, RPS17
15GR00386-A-15.8RBM10, RPL11, RPL15, RPL26, RPL35A, RPL5
16GR00312-A5.8RBM10, RPL11, RPL15, RPL26, RPL35A, RPL5

Drugs & Therapeutics for Pierre Robin Syndrome

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FludarabineapprovedPhase 3111321679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
2
Busulfanapproved, investigationalPhase 354055-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
3
Cyclophosphamideapproved, investigationalPhase 3282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
4Vidarabine PhosphatePhase 3124
5Antirheumatic AgentsPhase 310627
6Immunosuppressive AgentsPhase 312770
7Antineoplastic Agents, AlkylatingPhase 34474
8Alkylating AgentsPhase 34694
9
CobaltPhase 11657440-48-4104729
Synonyms:
Aquacat
Co
 
Cobalt-59
Cobatope-57
Kobalt
Super cobalt
10threonineNutraceutical20

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dose-reduced Versus Standard Conditioning in MDS/sAMLTerminatedNCT01203228Phase 3
2Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Myelodysplastic Syndrome Low RiskNot yet recruitingNCT02757989Phase 2
3A Comparison Between Two Video Laryngoscopes,in Successfully Intubating Pediatric Mannequins w/wo Difficult AirwaysCompletedNCT02198742Phase 1
4Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in ChildrenUnknown statusNCT01664234
5Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative ConsiderationsCompletedNCT02658318
6Functional Modeling of the Pediatric AirwayCompletedNCT01690078
7Pierre Robin Sequence Outcome Assessment Multi Institutional StudyRecruitingNCT02432638
8Early Treatment Outcomes in Pierre-Robin-Like PhenotypeActive, not recruitingNCT02266043
9A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 MonthsEnrolling by invitationNCT02364843

Search NIH Clinical Center for Pierre Robin Syndrome

Genetic Tests for Pierre Robin Syndrome

About this section

Genetic tests related to Pierre Robin Syndrome:

id Genetic test Affiliating Genes
1 Pierre-Robin Sequence27

Anatomical Context for Pierre Robin Syndrome

About this section

MalaCards organs/tissues related to Pierre Robin Syndrome:

36
Tongue, Eye, Bone, Heart

Publications for Pierre Robin Syndrome

About this section

Articles related to Pierre Robin Syndrome:

(show all 29)
idTitleAuthorsYear
1
Our Experience With Regional Anesthesia in a Case of Pierre Robin Syndrome. (27110537)
2016
2
Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome. (25376137)
2014
3
Combined use of a McGrathAr MAC video laryngoscope and Frova Intubating Introducer in a patient with Pierre Robin syndrome: a case report. (24851168)
2014
4
Role of SOX9 in the Etiology of Pierre-Robin Syndrome. (23826492)
2013
5
Usefulness of a CookAr airway exchange catheter in laryngeal mask airway-guided fiberoptic intubation in a neonate with Pierre Robin syndrome -A case report-. (23458916)
2013
6
Prone insertion of a size 0.5 intubating laryngeal airway overcomes severe upper airway obstruction in an awake neonate with Pierre Robin syndrome. (22843290)
2012
7
Percutaneous dilational tracheotomy for airway management in a newborn with Pierre-Robin syndrome and a glossopharyngeal web. (22005668)
2012
8
The use of laryngeal mask airway for surgical tracheotomy in a neonate with Pierre Robin syndrome: a case report. (20927657)
2011
9
Retrograde nasal intubation technique in Pierre Robin Syndrome: a suggestion. (20470321)
2010
10
Mandibular distraction using bone morphogenic protein and rapid distraction in neonates with Pierre Robin syndrome. (20613593)
2010
11
Capnography-guided awake nasal intubation in a 4-month infant with Pierre Robin syndrome. (20885879)
2010
12
Utility of LMA for emergency tracheostomy in an infant with pierre Robin syndrome. (19335355)
2009
13
Glossopharyngeal nerve blocks for awake laryngeal mask airway insertion in an infant with Pierre-Robin syndrome: can a glidescope come to the rescue? (19207917)
2009
14
Capnography guided awake nasal intubation in a 4 month infant with pierre robin syndrome for cleft lip repair-a better technique. (20640099)
2009
15
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. (20020575)
2009
16
The effect of glossopexy on weight velocity in infants with Pierre Robin syndrome. (18280277)
2008
17
Intubation of infants with Pierre Robin syndrome: the use of the paraglossal approach combined with a gum-elastic bougie in six consecutive cases. (18211445)
2008
18
A new technique for laryngeal mask airway insertion in a newborn with pierre-robin syndrome: a case report. (25610049)
2008
19
Right molar approach to tracheal intubation in a child with Pierre Robin syndrome, cleft palate, and tongue tie. (18070792)
2008
20
Pierre-Robin syndrome: a case report. (17618445)
2008
21
Pierre Robin syndrome: an update. (17599114)
2007
22
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. (17021725)
2006
23
Anaplastic astrocytoma of an oncocytic type occurring in the cerebellar vermis in Pierre Robin syndrome--case report. (1282685)
1992
24
Pierre Robin syndrome combined with unilateral choanal atresia. (3118298)
1987
25
Cor pulmonale in severe Pierre Robin syndrome. (7355014)
1980
26
Pierre Robin syndrome with congenital hepatic fibrosis. (1205578)
1975
27
Cor pulmonale in the Pierre Robin syndrome. (4441125)
1974
28
Stickler syndrome in a pedigree of Pierre Robin syndrome. (4198747)
1973
29
ON THE PATHOGENESIS AND THERAPY OF PIERRE ROBIN SYNDROME]. (14293686)
1964

Variations for Pierre Robin Syndrome

About this section

Expression for genes affiliated with Pierre Robin Syndrome

About this section
Search GEO for disease gene expression data for Pierre Robin Syndrome.

Pathways for genes affiliated with Pierre Robin Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.2RPL11, RPL26, RPL5
2
Show member pathways
7.8RPS10, RPS17, RPS19, RPS24, RPS26, RPS28
3
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
4
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
5
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
6
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
7
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

GO Terms for genes affiliated with Pierre Robin Syndrome

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:00159359.3RPS24, RPS26, RPS28, RPS29
2cytosolic large ribosomal subunitGO:00226259.2RPL11, RPL15, RPL26, RPL35A, RPL5
3focal adhesionGO:00059259.1RPL5, RPS10, RPS17, RPS19, RPS29, RPS7
4extracellular matrixGO:00310128.9RPL11, RPL35A, RPS10, RPS17, RPS19, RPS7
5ribosomeGO:00058408.8RPL15, RPS10, RPS17, RPS19, RPS7
6nucleolusGO:00057308.7RPL11, RPL5, RPS10, RPS19, RPS26, RPS7
7cytosolic small ribosomal subunitGO:00226278.6RPS10, RPS17, RPS19, RPS24, RPS26, RPS28
8nucleoplasmGO:00056547.6RBM10, RPS10, RPS17, RPS19, RPS24, RPS26
9membraneGO:00160207.0RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
10extracellular exosomeGO:00700626.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
11cytosolGO:00058296.5RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte homeostasisGO:003410110.7RPS17, RPS24
2protein localization to nucleusGO:003450410.4RPL11, SOX9
3ribosomal large subunit assemblyGO:000002710.3RPL11, RPL5
4maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:000046210.0RPS19, RPS24, TSR2
5cytoplasmic translationGO:00021819.9RPL15, RPL26, RPL35A
6ribosomal small subunit biogenesisGO:00422749.9RPS17, RPS19, RPS24, RPS28, RPS7
7ribosomal small subunit assemblyGO:00000289.9RPS10, RPS17, RPS19
8ribosomal large subunit biogenesisGO:00422739.5RPL11, RPL26, RPL35A, RPL5
9nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00001846.3RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
10rRNA processingGO:00063646.3RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
11SRP-dependent cotranslational protein targeting to membraneGO:00066146.3RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
12translationGO:00064126.3RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
13translational initiationGO:00064136.2RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
14viral transcriptionGO:00190835.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

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

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:00037239.1RPL11, RPL15, RPL26, RPL5, RPS7
2poly(A) RNA bindingGO:00448226.1RBM10, RPL11, RPL15, RPL26, RPL35A, RPL5
3structural constituent of ribosomeGO:00037355.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

Sources for Pierre Robin Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet