MCID: ISL075
MIFTS: 11

Isolated Pierre Robin Sequence

Aliases & Classifications for Isolated Pierre Robin Sequence

MalaCards integrated aliases for Isolated Pierre Robin Sequence:

Name: Isolated Pierre Robin Sequence 24
Glossoptosis, Micrognathia, and Cleft Palate 24
Pierre Robin Syndrome 24
Pierre-Robin Syndrome 24
Robin Sequence 24
Robin Syndrome 24

Summaries for Isolated Pierre Robin Sequence

Genetics Home Reference : 24 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 glossoptosis, micrognathia, and cleft palate, is related to robin sequence with cleft mandible and limb anomalies and corpus callosum, agenesis of, with facial anomalies and robin sequence. The drugs Cobalt and Temazepam have been mentioned in the context of this disorder. Affiliated tissues include tongue.

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 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 Not Applicable
8 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Not yet recruiting NCT03423017 Not Applicable
9 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

Anatomical Context for Isolated Pierre Robin Sequence

MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

38
Tongue

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

# Title Authors Year
1
Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review. ( 26187812 )
2015
2
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
3
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. ( 25043979 )
2014
4
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. ( 23532965 )
2013
5
Facial profile evaluation of isolated pierre robin sequence. ( 21214326 )
2012
6
To distract or not to distract: an algorithm for airway management in isolated Pierre Robin sequence. ( 15083010 )
2004
7
Airway management in patients with isolated Pierre Robin sequence during the first year of life. ( 12867857 )
2003
8
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. ( 12012224 )
2002
9
Neurophysiological brainstem investigations in isolated Pierre Robin sequence. ( 10854801 )
2000

Variations for Isolated Pierre Robin Sequence

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
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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