MCID: PRR010
MIFTS: 43

Pierre Robin Sequence malady

Rare diseases category
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Summaries for Pierre Robin Sequence

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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 weissenbacher-zweymüller 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 Spinal Cord Injury. The compounds glycosaminoglycan and alginate have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and heart, and related mouse phenotypes are respiratory system and limbs/digits/tail.

Aliases & Classifications for Pierre Robin Sequence

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43NIH Rare Diseases, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

pierre robin sequence 43 45
glossoptosis, micrognathia, and cleft palate 43
pierre-robin syndrome 43
pierre robin syndrome 62


Related Diseases for Pierre Robin Sequence

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17GeneCards, 18GeneDecks
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Diseases related to Pierre Robin Sequence via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate31.1SOX9, COL11A2, COL11A1, COL2A1
2weissenbacher-zweymüller syndrome30.5COL11A2, COL2A1
3campomelic dysplasia30.5COL2A1, COL9A2, SOX9
4stickler syndrome30.5COL9A1, COL2A1, COL11A1, COL9A2, COL11A2
5isolated pierre robin sequence10.9
6nasopharyngitis10.7
7mental retardation10.6
8obstructive sleep apnea10.6
9sleep apnea10.6
10laryngitis10.5
11robin sequence and oligodactyly10.5
12intellectual disability-brachydactyly-pierre robin syndrome10.5
13pharyngitis10.4
14distal arthrogryposis10.4
15esophagitis10.4
16catel manzke syndrome10.4
17cerebro-costo-mandibular syndrome10.4
18pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
19isolated pierre robin syndrome10.4
20congenital microgastria10.4
21pierre robin syndrome skeletal dysplasia polydactyly10.4
22cor pulmonale10.4
23neurofibromatosis10.3
24crouzon syndrome10.3
25radioulnar synostosis10.3
26aicardi syndrome10.3
27esophageal atresia10.3
28congenital diaphragmatic hernia10.3
29meningioma10.3
30multiple sclerosis10.3
31oligohydramnios10.3
32otitis media10.3
33periodontitis10.3
34synostosis10.3
35amniotic band syndrome10.3
36cerebellar hypoplasia10.3
37chitayat meunier hodgkinson syndrome10.3
38congenital nonprogressive myopathy with moebius and robin sequences10.3
39ectodermal dysplasia10.3
40left ventricular noncompaction10.3
41mn110.3
42richieri costa pereira syndrome10.3
43stickler syndrome type 110.3
44tarp syndrome10.3
45toriello carey syndrome10.3
46van der woude syndrome10.3
47aneurysm10.3
48swallowing disorders10.3
49hyperphalangy10.3
50choanal atresia10.2

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



Diseases related to pierre robin sequence

Symptoms for Pierre Robin Sequence

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Drugs & Therapeutics for Pierre Robin Sequence

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pierre Robin Sequence

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Genetic Tests for Pierre Robin Sequence

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Anatomical Context for Pierre Robin Sequence

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

33
Tongue, Eye, Heart, Testes, Thymus

Animal Models for Pierre Robin Sequence or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pierre Robin Sequence:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6COL2A1, COL11A1, SOX9, KCNJ2
2MP:00053718.6SOX9, COL11A1, COL2A1, COL9A1
3MP:00053818.4KCNJ2, SOX9, COL11A1, COL2A1
4MP:00053828.4COL2A1, COL11A1, COL11A2, SOX9, KCNJ2
5MP:00053778.3SOX9, COL11A2, COL11A1, COL2A1, COL9A1
6MP:00053878.0MAP2K6, COL9A1, COL2A1, COL11A1, SOX9
7MP:00053907.1COL9A1, COL2A1, COL11A1, COL11A2, SOX9, KCNJ16

Publications for Pierre Robin Sequence

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52PubMed
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Articles related to Pierre Robin Sequence:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Mandibular distraction in a 75-day-old child with severe Pierre Robin sequence. (23960331)
2013
2
Rare syndromes of the head and face-Pierre Robin sequence. (23799581)
2013
3
The influence of the TA1bingen soft palate plate and early cleft closure on the nasopharyngeal airway for the management of airway obstruction in an infant with Pierre Robin sequence: A case report. (23010599)
2012
4
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
5
Pierre Robin Sequence: evaluation, management, indications for surgery, and pitfalls. (22588044)
2012
6
Mandibular distraction osteogenesis for neonates with Pierre Robin sequence and airway obstruction. (22958047)
2012
7
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review. (22048048)
2012
8
Mandibular distraction instead of tracheostomy in Pierre Robin sequence patients: is it worth it? (23096654)
2012
9
Tracheostomy versus mandibular distraction osteogenesis in Canadian children with Pierre Robin sequence: a comparative cost analysis. (22762703)
2012
10
Facial skeletal morphology in growing children with pierre robin sequence. (21121765)
2012
11
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. (22529047)
2012
12
Safety techniques for percutaneous endoscopic gastrostomy tube placement in Pierre Robin Sequence. (21282476)
2011
13
Subglottic stenosis: another challenge for intubation and potential mechanism of airway obstruction in Pierre Robin Sequence. (21742387)
2011
14
Cerebro-costo-mandibular syndrome: Pierre Robin sequence with rib dysplasia. (21222053)
2011
15
A newborn with Pierre Robin sequence after preconceptional mitoxantrone exposure of a female with multiple sclerosis. (21601225)
2011
16
Nasal fiberoptic-guided oral tracheal intubation in neonates and infants with Pierre Robin sequence. (21210887)
2011
17
Respiratory management of Pierre Robin sequence using nasopharyngeal airway with Kirschner wire. (19879199)
2010
18
Tongue-lip adhesion in the treatment of Pierre Robin sequence. (19276814)
2009
19
Temporary tongue-lip traction during the initial period of mandibular distraction in Pierre Robin sequence. (19115790)
2009
20
Mandibular traction--an alternative treatment in infants with Pierre Robin sequence. (19761918)
2009
21
CT analysis after distraction osteogenesis in Pierre Robin Sequence. (19160426)
2009
22
Awake laryngeal mask insertion followed by induction of anesthesia in infants with the Pierre Robin sequence. (18823480)
2008
23
Parental perceptions and morbidity: tracheostomy and Pierre Robin sequence. (18718678)
2008
24
Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome? (18541965)
2008
25
A new grading of Pierre Robin sequence. (18956939)
2008
26
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. (17551083)
2007
27
Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report. (17762284)
2007
28
Fatal airway obstruction from percutaneous endoscopic gastrostomy in an infant with Pierre Robin sequence. (17579005)
2007
29
The genetic basis of the Pierre Robin Sequence. (16526920)
2006
30
Tongue-lip adhesion in the management of Pierre Robin sequence with airway obstruction: technique and outcome. (15880984)
2005
31
A feeding obturator for a preterm baby with Pierre Robin sequence. (15674233)
2005
32
Transmandibular K-wire in the management of airway obstruction in Pierre Robin sequence. (15111807)
2004
33
Short case presentation. Pierre-Robin sequence. (15230265)
2004
34
Outcome of tongue-lip plication in patients with severe Pierre Robin sequence. (14501317)
2003
35
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? (12498601)
2003
36
Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: an oral clefting model supporting the Pierre-Robin sequence. (11877774)
2002
37
Distraction osteogenesis in Pierre Robin sequence and related respiratory problems in children. (11886999)
2002
38
Higher incidence of twins in infants with Pierre Robin sequence. (11386439)
2001
39
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. (11484197)
2001
40
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. (11195018)
2001
41
Late presentation of upper airway obstruction in Pierre Robin sequence. (11040155)
2000
42
Neurophysiological brainstem investigations in isolated Pierre Robin sequence. (10854801)
2000
43
Craniofacial morphology in young adults with the Pierre Robin sequence and isolated cleft palate. (9298165)
1997
44
Airway obstruction in the Pierre Robin sequence. (8544588)
1995
45
Glossopexy in Pierre Robin sequence using the laryngeal mask airway. (7669324)
1995
46
Pierre Robin sequence and obstructive sleep apnea. (7611952)
1994
47
Growth in children with Pierre Robin sequence and isolated cleft palate. (7841731)
1994
48
Pierre Robin sequence management. (2011443)
1991
49
Pierre Robin sequence associated with amniotic band syndrome ultrasonographic diagnosis and pathogenesis. (3309928)
1987
50
Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome). (6540680)
1984

Variations for Pierre Robin Sequence

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Expression for genes affiliated with Pierre Robin Sequence

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2BioGPS, 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

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50PathCards, 12EMD Millipore, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 53QIAGEN
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Pathways related to Pierre Robin Sequence according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL9A2, SOX9
29.7COL2A1, SOX9
39.7SOX9, COL2A1
49.6COL9A1, COL9A2
5
Show member pathways
9.6COL9A1, COL9A2
69.6COL9A2, COL9A1
7
Show member pathways
9.3KCNJ16, KCNJ2
89.3KCNJ16, KCNJ2
9
Show member pathways
9.3KCNJ2, KCNJ16
10
Show member pathways
9.3KCNJ16, KCNJ2
11
Show member pathways
9.3KCNJ2, KCNJ16
129.3COL2A1, COL11A2, SOX9
13
Show member pathways
9.1COL9A2, COL9A1, MAP2K6
149.0COL2A1, COL11A1, COL11A2
159.0COL2A1, COL11A1, COL11A2
16
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.5COL11A2, COL11A1, COL2A1, MAP2K6
178.1COL9A1, COL2A1, COL11A1, COL9A2, COL11A2
18
Show member pathways
8.1COL9A1, COL2A1, COL11A1, COL9A2, COL11A2
19
Show member pathways
8.1COL11A2, COL9A2, COL11A1, COL2A1, COL9A1
20
Show member pathways
8.1COL11A2, COL9A2, COL11A1, COL2A1, COL9A1
21
Show member pathways
7.6COL11A2, COL9A2, COL11A1, COL2A1, COL9A1, MAP2K6
22
Show member pathways
7.2SOX9, COL11A2, COL9A2, COL11A1, COL2A1, COL9A1

Compounds for genes affiliated with Pierre Robin Sequence

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB
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Compounds related to Pierre Robin Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan459.7COL2A1, SOX9
2alginate459.6COL2A1, SOX9
3tertiapin-q619.5KCNJ16, KCNJ2
4levcromakalim619.4KCNJ16, KCNJ2
5p1075619.4KCNJ16, KCNJ2
6diazoxide45 61 29 1112.3KCNJ2, KCNJ16
7glibenclamide45 29 51 6112.0KCNJ16, KCNJ2

GO Terms for genes affiliated with Pierre Robin Sequence

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

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

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1notochord developmentGO:0309039.9COL2A1, SOX9
2limb bud formationGO:0601749.8COL2A1, SOX9
3cellular response to mechanical stimulusGO:0712609.7KCNJ2, SOX9
4proteoglycan metabolic processGO:0060299.6COL2A1, COL11A1
5cartilage developmentGO:0512169.5COL2A1, COL11A2, SOX9
6tissue homeostasisGO:0018949.5COL9A1, COL2A1, SOX9
7inner ear morphogenesisGO:0424729.4COL2A1, COL11A1
8potassium ion transmembrane transportGO:0718059.4KCNJ16, KCNJ2
9cartilage condensationGO:0015029.3COL2A1, COL11A1, SOX9
10palate developmentGO:0600219.3COL2A1, COL11A2
11potassium ion transportGO:0068139.3KCNJ16, KCNJ2
12collagen fibril organizationGO:0301999.2COL11A2, COL11A1, COL2A1
13axon guidanceGO:0074119.2COL9A2, COL2A1, COL9A1
14skeletal system developmentGO:0015019.2SOX9, COL11A2, COL9A2, COL2A1
15sensory perception of soundGO:0076059.2COL11A2, COL11A1, COL2A1
16collagen catabolic processGO:0305748.4COL9A1, COL2A1, COL11A1, COL9A2, COL11A2
17extracellular matrix disassemblyGO:0226178.4COL11A2, COL9A2, COL11A1, COL2A1, COL9A1
18extracellular matrix organizationGO:0301988.1SOX9, COL11A2, COL9A2, COL11A1, COL2A1, COL9A1

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

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

Products for genes affiliated with Pierre Robin Sequence

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Sources for Pierre Robin Sequence

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet