MCID: PRR010
MIFTS: 39

Pierre Robin Sequence malady

Summaries for Pierre Robin Sequence

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Pierre robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. pierre robin sequence may occur alone or be associated with a variety of other signs and symptoms, such as bifid uvula (a split in the soft flap of tissue that hangs from the back of the mouth), cleft palate, conductive hearing loss, recurring ear infections, eye anomalies (e.g., hypermetropia, myopia, astigmatism), heart defects, joint and skeletal anomalies, central nervous system defects (e.g., language and neurodevelopmental delay, epilepsy, hypotonia, and hydrocephalus) and genitourinary defects (e.g., undescended testes, hydronephrosis, and hydrocele).  the exact causes of pierre robin syndrome are unknown, however it may occur as part of a variety of different genetic syndromes.   last updated: 7/27/2012

MalaCards: Pierre Robin Sequence, also known as glossoptosis, micrognathia, and cleft palate, is related to cleft palate and stickler syndrome. An important gene associated with Pierre Robin Sequence is SOX9 (SRY (sex determining region Y)-box 9), and among its related pathways are Selected targets of ESR1 and Endochondral Ossification. The compounds alginate and tertiapin-q have been mentioned in the context of this disorder. Affiliated tissues include thymus, heart and tongue, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Aliases & Classifications for Pierre Robin Sequence

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
See all sources

Aliases & Descriptions:

pierre robin sequence 43 45
glossoptosis, micrognathia, and cleft palate 43
pierre-robin syndrome 43
pierre robin syndrome 61


Related Diseases for Pierre Robin Sequence

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Pierre Robin Sequence family:

pierre robin sequence with pectus excavatum and rib and scapular anomalies

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate31.1COL11A1, COL11A2, SOX9, COL2A1
2stickler syndrome30.6COL11A1, COL11A2, COL9A1, COL9A2, COL2A1
3weissenbacher-zweymuller syndrome30.4COL2A1, COL11A2
4campomelic dysplasia30.4SOX9, COL2A1, COL9A2
5isolated pierre robin sequence10.9
6mental retardation10.6
7cleft palate, isolated10.6
8sleep apnea10.6
9robin sequence and oligodactyly10.5
10intellectual disability-brachydactyly-pierre robin syndrome10.5
11distal arthrogryposis10.4
12char syndrome10.4
13pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
14catel manzke syndrome10.4
15cerebro-costo-mandibular syndrome10.4
16congenital microgastria10.4
17weissenbacher-zweymüller syndrome10.4
18pierre robin syndrome skeletal dysplasia polydactyly10.4
19weissenbacher-zweym�ller syndrome10.4
20neurofibromatosis10.3
21radioulnar synostosis10.3
22crouzon syndrome10.3
23aicardi syndrome10.3
24esophageal atresia10.3
25congenital diaphragmatic hernia10.3
26n syndrome10.3
27synostosis10.3
28micro syndrome10.3
29amniotic band syndrome10.3
30stickler syndrome type 110.3
31congenital nonprogressive myopathy with moebius and robin sequences10.3
32cerebellar hypoplasia10.3
33chitayat meunier hodgkinson syndrome10.3
34toriello carey syndrome10.3
35ectodermal dysplasia10.3
36manz syndrome10.3
37left ventricular noncompaction10.3
38tarp syndrome10.3
39richieri costa pereira syndrome10.3
40cleft soft palate10.3
41swallowing disorders10.3
42camptodactyly 110.3
43isolated pierre robin syndrome10.3
444q21 microdeletion syndrome10.3
45hyperphalangy10.3
46congenital hypothyroidism10.2
47weissenbacher-zweym& 252;ller syndrome10.2
48astrocytoma10.2
49congenital hepatic fibrosis10.2
50anaplastic astrocytoma10.2

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



Diseases related to pierre robin sequence

Clinical Features for Pierre Robin Sequence

Drugs & Therapeutics for Pierre Robin Sequence

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Pierre Robin Sequence

Drug clinical trials:

Search ClinicalTrials for Pierre Robin Sequence

Search NIH Clinical Center for Pierre Robin Sequence

Search CenterWatch for Pierre Robin Sequence

Genetic Tests for Pierre Robin Sequence

Anatomical Context for Pierre Robin Sequence

Sources:
33MalaCards
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MalaCards organs/tissues related to Pierre Robin Sequence:

33
Thymus, Heart, Tongue

Animal Models for Pierre Robin Sequence or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Pierre Robin Sequence

Sources:
51PubMed
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Articles related to Pierre Robin Sequence:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
Rare syndromes of the head and face-Pierre Robin sequence. (23799581)
2013
2
Airway Management in Pierre Robin Sequence: Patterns of Practice. (23875767)
2013
3
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. (23532965)
2013
4
Inactivation of LAR family phosphatase genes Ptprs and Ptprf causes craniofacial malformations resembling Pierre-Robin sequence. (23863482)
2013
5
Upper airway changes in Pierre Robin sequence from childhood to adulthood. (23350818)
2013
6
Lehman Syndrome: A New Syndrome for Pierre Robin Sequence. (23962060)
2013
7
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. (22436304)
2012
8
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review. (22048048)
2012
9
Facial skeletal morphology in growing children with pierre robin sequence. (21121765)
2012
10
Mandibular distraction osteogenesis in children with Pierre Robin sequence: impact on health-related quality of life. (22591983)
2012
11
Subglottic stenosis: another challenge for intubation and potential mechanism of airway obstruction in Pierre Robin Sequence. (21742387)
2011
12
The occurrence of velopharyngeal insufficiency in Pierre Robin Sequence patients. (21782256)
2011
13
Respiratory distress in Pierre Robin sequence: an experience with mandible traction by wires. (21237615)
2011
14
Distraction osteogenesis as followed by CT scan in Pierre Robin sequence. (21074450)
2011
15
Feeding plate for a neonate with Pierre Robin sequence. (21985881)
2011
16
Pierre robin sequence and the pediatric dentist. (22090768)
2011
17
Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence. (20815709)
2011
18
Physiologic and clinical benefits of noninvasive ventilation in infants with Pierre Robin sequence. (20956415)
2010
19
Neonatal outcomes of Pierre Robin sequence: an institutional experience. (20837617)
2010
20
Mandibular traction--an alternative treatment in infants with Pierre Robin sequence. (19761918)
2009
21
A novel technique of retrograde nasal intubation for the Pierre Robin Sequence infant with a known difficult airway. (19691705)
2009
22
Changing an oral endotracheal tube to a nasal tube in Pierre-Robin sequence. (20017869)
2009
23
A new grading of Pierre Robin sequence. (18956939)
2008
24
Intubation of an infant with Pierre Robin sequence under dexmedetomidine sedation using the Shikani Optical Stylet. (18582313)
2008
25
Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report. (17762284)
2007
26
Intraoral osteotomies using piezosurgery for distraction in an infant with Pierre-Robin sequence. (17200830)
2007
27
Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening. (17705236)
2007
28
Using a modified nutrition plate for early intervention in a newborn infant with Pierre Robin sequence: A case report. (16681412)
2006
29
Mandibular morphology and growth with and without hypodontia in subjects with Pierre Robin sequence. (16849070)
2006
30
A feeding obturator for a preterm baby with Pierre Robin sequence. (15674233)
2005
31
Treatment options for severe upper airway obstruction in pierre-robin sequence. (16027685)
2005
32
Ultrasonographic diagnosis of glossoptosis in fetuses with Pierre Robin sequence in early and mid pregnancy. (16202757)
2005
33
Airway management in patients with isolated Pierre Robin sequence during the first year of life. (12867857)
2003
34
Laryngeal mask airway for ventilatory support over a 4-day period in a neonate with Pierre Robin sequence. (12562497)
2003
35
Neonatal permanent jaw constriction because of oral synechiae and Pierre Robin sequence in a child with van der Woude syndrome. (11772179)
2002
36
Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature. (12443822)
2002
37
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. (11484197)
2001
38
Gastroesophageal reflux in Pierre Robin sequence--early surgical treatment. (11294547)
2001
39
Consultation with the specialist: The Pierre Robin sequence: a concise review for the practicing pediatrician. (11283325)
2001
40
Three-dimensional computer morphometry of the maxilla and face in infants with Pierre Robin sequence--a comparative study. (10830810)
2000
41
Orthodontic treatment for a patient with Pierre-Robin sequence complicated by juvenile periodontitis. (10830812)
2000
42
Maxillofacial pathology and management of Pierre Robin sequence. (11449785)
2000
43
Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence. (10532172)
1999
44
Airway management in Pierre Robin sequence. (9591861)
1998
45
Craniofacial morphology in young adults with the Pierre Robin sequence and isolated cleft palate. (9298165)
1997
46
Quality of speech correlated to craniofacial characteristics of cleft palate patients with the Pierre Robin sequence. (8828280)
1996
47
Airway obstruction in the Pierre Robin sequence. (8544588)
1995
48
Pierre Robin sequence and obstructive sleep apnea. (7611952)
1994
49
Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. (2371106)
1990
50
Audiologic findings in Pierre Robin sequence. (2744260)
1989

Genetic Variations for Pierre Robin Sequence

Expression for genes affiliated with Pierre Robin Sequence

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pierre Robin Sequence

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

Pathways for genes affiliated with Pierre Robin Sequence

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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Pathways related to Pierre Robin Sequence according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SOX9, COL9A2
29.7SOX9, COL2A1
3
Hide members
9.3KCNJ2, KCNJ16
4
Hide members
9.3KCNJ2, KCNJ16
59.3KCNJ2, KCNJ16
69.3SOX9, COL11A2, COL2A1
7
Hide members
9.2COL9A2, COL9A1, COL2A1
8
Hide members
9.2COL9A2, COL9A1, COL2A1
99.0COL11A1, COL2A1, COL11A2
109.0COL11A1, COL2A1, COL11A2
11
Hide members
8.6COL2A1, COL9A1, COL9A2, MAP2K6
12
Hide members
8.5COL9A1, COL11A2, COL2A1, COL11A1
13
Hide members
8.5MAP2K6, COL11A2, COL2A1, COL11A1
148.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2
15
Hide members
8.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2
16
Hide members
8.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2
17
Hide members
8.1COL9A2, COL9A1, COL11A2, COL2A1, COL11A1
18
Hide members
7.6COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, MAP2K6
19
Hide members
7.2COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, SOX9

Compounds for genes affiliated with Pierre Robin Sequence

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Pierre Robin Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alginate459.4SOX9, COL2A1
2tertiapin-q609.4KCNJ2, KCNJ16
3levcromakalim609.4KCNJ2, KCNJ16
4p1075609.3KCNJ2, KCNJ16
5glibenclamide45 29 50 6012.3KCNJ2, KCNJ16
6diazoxide45 60 29 1112.2KCNJ16, KCNJ2

GO Terms for genes affiliated with Pierre Robin Sequence

Sources:
16Gene Ontology
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Cellular components related to Pierre Robin Sequence according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:0055949.5COL9A1, COL9A2
2collagen type XIGO:0055929.4COL11A2, COL11A1
3voltage-gated potassium channel complexGO:0080769.3KCNJ2, KCNJ16
4endoplasmic reticulum lumenGO:0057888.2COL9A2, COL9A1, COL11A2, COL2A1, COL11A1
5extracellular regionGO:0055767.8COL9A2, COL9A1, COL11A2, COL2A1, COL11A1

Biological processes related to Pierre Robin Sequence according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1notochord developmentGO:0309039.9SOX9, COL2A1
2limb bud formationGO:0601749.7SOX9, COL2A1
3palate developmentGO:0600219.6COL11A2, COL2A1
4proteoglycan metabolic processGO:0060299.6COL2A1, COL11A1
5tissue homeostasisGO:0018949.5COL2A1, COL9A1, SOX9
6cartilage developmentGO:0512169.5COL2A1, COL11A2, SOX9
7cartilage condensationGO:0015029.4SOX9, COL2A1, COL11A1
8collagen fibril organizationGO:0301999.2COL11A2, COL2A1, COL11A1
9inner ear morphogenesisGO:0424729.1COL2A1, COL11A1
10skeletal system developmentGO:0015019.1COL2A1, COL11A2, COL9A2, SOX9
11axon guidanceGO:0074119.1COL2A1, COL9A1, COL9A2
12sensory perception of soundGO:0076059.1COL11A1, COL2A1, COL11A2
13collagen catabolic processGO:0305748.4COL9A2, COL9A1, COL11A2, COL2A1, COL11A1
14extracellular matrix disassemblyGO:0226178.4COL11A1, COL2A1, COL11A2, COL9A1, COL9A2
15extracellular matrix organizationGO:0301988.0COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, SOX9

Molecular functions related to Pierre Robin Sequence according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.4COL11A2, COL11A1
2inward rectifier potassium channel activityGO:0052429.0KCNJ2, KCNJ16
3extracellular matrix structural constituent conferring tensile strengthGO:0300208.6COL9A2, COL9A1, COL11A2, COL2A1

Products for genes affiliated with Pierre Robin Sequence

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  • Lysates
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Sources for Pierre Robin Sequence

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet