MCID: ISL075
MIFTS: 23

Isolated Pierre Robin Sequence

Aliases & Classifications for Isolated Pierre Robin Sequence

MalaCards integrated aliases for Isolated Pierre Robin Sequence:

Name: Isolated Pierre Robin Sequence 25
Robin Sequence 25 29 6
Glossoptosis, Micrognathia, and Cleft Palate 25
Pierre Robin Syndrome 25
Pierre-Robin Syndrome 25
Robin Syndrome 25

Summaries for Isolated Pierre Robin Sequence

Genetics Home Reference : 25 Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways. Most people with Pierre Robin sequence are also born with an opening in the roof of the mouth (a cleft palate). This feature is not generally considered necessary for diagnosis of the condition, although there is some disagreement among doctors.

MalaCards based summary : Isolated Pierre Robin Sequence, also known as robin sequence, is related to robin sequence with cleft mandible and limb anomalies and corpus callosum, agenesis of, with facial anomalies and robin sequence. An important gene associated with Isolated Pierre Robin Sequence is MED13L (Mediator Complex Subunit 13 Like). The drugs Cobalt and Temazepam have been mentioned in the context of this disorder. Affiliated tissues include tongue, testes and heart.

Related Diseases for Isolated Pierre Robin Sequence

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

# Related Disease Score Top Affiliating Genes
1 robin sequence with cleft mandible and limb anomalies 12.5
2 corpus callosum, agenesis of, with facial anomalies and robin sequence 12.4
3 ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence 12.4
4 thrombocytopenia robin sequence 12.3
5 pierre robin syndrome 11.7
6 cleft palate, isolated 10.0
7 stickler syndrome 10.0

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



Diseases related to Isolated Pierre Robin Sequence

Symptoms & Phenotypes for Isolated Pierre Robin Sequence

Drugs & Therapeutics for Isolated Pierre Robin Sequence

Drugs for Isolated Pierre Robin Sequence (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 Isolated Pierre Robin Sequence

Genetic Tests for Isolated Pierre Robin Sequence

Genetic tests related to Isolated Pierre Robin Sequence:

# Genetic test Affiliating Genes
1 Robin Sequence 29

Anatomical Context for Isolated Pierre Robin Sequence

MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

41
Tongue, Testes, Heart, Thymus

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

(show top 50) (show all 274)
# Title Authors Year
1
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. ( 29159987 )
2018
2
Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence. ( 28274235 )
2017
3
Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient. ( 28557592 )
2017
4
A Simple Mandibular Distraction Protocol to Avoid Tracheostomy in Patients With Pierre Robin Sequence. ( 26068388 )
2017
5
Permanent tooth agenesis in individuals with non-syndromic Robin sequence: a systematic review and meta-analysis. ( 29027749 )
2017
6
BMPR1B mutation causes Pierre Robin sequence. ( 28418932 )
2017
7
Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report. ( 27429161 )
2016
8
Distraction Osteogenesis for Management of Severe OSA in Pierre Robin Sequence: An Approach to Elude Tracheostomy in Infants. ( 27833343 )
2016
9
Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns. ( 27933446 )
2016
10
Klippel-Feil syndrome associated with Pierre Robin sequence and mandibular duplication. ( 27236503 )
2016
11
Severity of clinical manifestations and laryngeal exposure difficulty predicted by glossoptosis endoscopic grades in Robin sequence patients. ( 27729147 )
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
Numerical modeling of the traction process in the treatment for Pierre-Robin Sequence. ( 27619035 )
2016
16
Evaluation of upper airway obstruction in infants with Pierre Robin sequence and the role of polysomnography--Review of current evidence. ( 26563513 )
2016
17
Multidisciplinary Aspects of 104 Patients With Pierre Robin Sequence. ( 25554857 )
2015
18
Imaging neonates and children with Pierre Robin sequence before and after mandibular distraction osteogenesis: what the craniofacial surgeon wants to know. ( 25792154 )
2015
19
Surgical versus nonsurgical interventions to relieve upper airway obstruction in children with Pierre Robin sequence. ( 25848803 )
2015
20
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
21
Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review. ( 26187812 )
2015
22
In Situ and Home Care Nasopharyngeal Intubation Improves Respiratory Condition and Prevents Surgical Procedures in Early Infancy of Severe Cases of Robin Sequence. ( 26273635 )
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
Mandibular distraction for Robin sequence associated with laryngomalacia. ( 25915678 )
2015
25
Piezosurgery: A new and safe technique for distraction osteogenesis in Pierre Robin sequence review of the literature and case report. ( 25555147 )
2015
26
Management of obstructive sleep apnea in a developmentally delayed pediatric patient with aggressive behavior and Pierre Robin sequence. ( 25580604 )
2015
27
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
28
A pragmatic approach to infants with Robin sequence: a retrospective cohort study and presence of a treatment algorithm. ( 25680705 )
2015
29
Pierre Robin sequence: review of diagnostic and treatment challenges. ( 25704848 )
2015
30
Oral to nasal endotracheal tube exchange using an airway exchange catheter in a neonate with Pierre Robin Sequence. ( 25468589 )
2015
31
Nager syndrome and Pierre Robin sequence. ( 25808856 )
2015
32
Defining failure and its predictors in mandibular distraction for Robin sequence. ( 26205165 )
2015
33
A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. ( 24699068 )
2014
34
Discussion: The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24867726 )
2014
35
Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence. ( 25052512 )
2014
36
Heart Failure in an Infant With Pierre Robin Sequence: Is There a Diagnostic Test to Aid in Treatment Planning and Monitoring? ( 25531737 )
2014
37
Bilateral Hypodontia in Children With Pierre Robin Sequence. ( 25058123 )
2014
38
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. ( 25493098 )
2014
39
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome? ( 24311538 )
2014
40
Surgical considerations in pierre robin sequence. ( 24607189 )
2014
41
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. ( 25195018 )
2014
42
Discussion: The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24867725 )
2014
43
Regional variations in the presentation and surgical management of Pierre Robin sequence. ( 24965828 )
2014
44
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. ( 25043979 )
2014
45
Esophageal dislodgement of an endotracheal tube during nasopharyngeal oxygenation in a neonate with Pierre-Robin sequence: a case report. ( 24862818 )
2014
46
Prevalence and patterns of permanent tooth agenesis in patients with nonsyndromic Pierre Robin sequence. ( 24703283 )
2014
47
The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. ( 24569425 )
2014
48
Semi-automatic volumetric segmentation of the upper airways in patients with pierre robin sequence. ( 25196625 )
2014
49
Reaction to: Persson et al. Educational achievements in Pierre Robin sequence. J Plast Surg Hand Surg 2013;47(1):36-9. ( 24909823 )
2014
50
Primary aerodigestive presentations of Pierre Robin sequence/complex and predictive factors of airway type and management. ( 25139132 )
2014

Variations for Isolated Pierre Robin Sequence

ClinVar genetic disease variations for Isolated Pierre Robin Sequence:

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 Isolated Pierre Robin Sequence

Search GEO for disease gene expression data for Isolated Pierre Robin Sequence.

Pathways for Isolated Pierre Robin Sequence

GO Terms for Isolated Pierre Robin Sequence

Sources for Isolated Pierre Robin Sequence

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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