MCID: PRR010
MIFTS: 44

Pierre Robin Sequence malady

Rare diseases category
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Summaries for Pierre Robin Sequence

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NIH Rare Diseases:42 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 based summary: Pierre Robin Sequence, also known as glossoptosis, micrognathia, and cleft palate, is related to cleft palate and weissenbacher-zweym├╝ller 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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Sources:
42NIH Rare Diseases, 44Novoseek, 62UMLS
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Pierre Robin Sequence, Aliases & Descriptions:

Name: Pierre Robin Sequence 42 44
Glossoptosis, Micrognathia, and Cleft Palate 42
 
Pierre-Robin Syndrome 42
Pierre Robin Syndrome 62


Classifications:

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


Related Diseases for Pierre Robin Sequence

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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 81)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate31.0COL2A1, COL11A2, SOX9, COL11A1
2weissenbacher-zweym├╝ller syndrome30.7COL2A1, COL11A2
3campomelic dysplasia30.6COL2A1, COL9A2, SOX9
4stickler syndrome29.9COL9A1, COL2A1, COL11A1, COL9A2, COL11A2
5isolated pierre robin sequence10.9
6nasopharyngitis10.7
7mental retardation10.7
8obstructive sleep apnea10.6
9sleep apnea10.6
10esophagitis10.5
11laryngitis10.5
12robin sequence and oligodactyly10.5
13intellectual disability-brachydactyly-pierre robin syndrome10.5
14pharyngitis10.5
15distal arthrogryposis10.5
16catel manzke syndrome10.5
17pierre robin sequence with pectus excavatum and rib and scapular anomalies10.5
18isolated pierre robin syndrome10.5
19congenital microgastria10.5
20pierre robin syndrome skeletal dysplasia polydactyly10.4
21cor pulmonale10.4
22marshall syndrome10.4COL11A1
23fibrochondrogenesis10.4COL11A1
24degenerative disc disease10.4COL9A2
25crouzon syndrome10.3
26ectodermal dysplasia10.3
27multiple sclerosis10.3
28radioulnar synostosis10.3
29neurofibromatosis10.3
30tooth agenesis10.3
31aicardi syndrome10.3
32esophageal atresia10.3
33congenital diaphragmatic hernia10.3
34meningioma10.3
35oligohydramnios10.3
36otitis media10.3
37periodontitis10.3
38synostosis10.3
39amniotic band syndrome10.3
40cerebellar hypoplasia10.3
41cerebro-costo-mandibular syndrome10.3
42chitayat meunier hodgkinson syndrome10.3
43congenital nonprogressive myopathy with moebius and robin sequences10.3
44left ventricular noncompaction10.3
45mn110.3
46richieri costa pereira syndrome10.3
47stickler syndrome type 110.3
48tarp syndrome10.3
49toriello carey syndrome10.3
50van der woude syndrome10.3

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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Drug clinical trials:

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Genetic Tests for Pierre Robin Sequence

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Anatomical Context for Pierre Robin Sequence

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MalaCards organs/tissues related to Pierre Robin Sequence:

32
Tongue, Eye, Heart, Testes, Thymus

Animal Models for Pierre Robin Sequence or affiliated genes

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MGI Mouse Phenotypes related to Pierre Robin Sequence:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6COL2A1, COL11A1, SOX9, KCNJ2
2MP:00053718.6COL9A1, COL2A1, COL11A1, SOX9
3MP:00053818.4KCNJ2, SOX9, COL11A1, COL2A1
4MP:00053828.4KCNJ2, SOX9, COL11A2, COL11A1, COL2A1
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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Articles related to Pierre Robin Sequence:

(show top 50)    (show all 214)
idTitleAuthorsYear
1
The surgical correction of Pierre Robin sequence: mandibular distraction osteogenesis versus tongue-lip adhesion. (24569425)
2014
2
Pierre robin sequence in a neonate with suckling difficulty and weight loss. (25170043)
2014
3
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. (25195018)
2014
4
Fast and early mandibular osteodistraction (FEMOD) in severe Pierre Robin Sequence. (24787079)
2014
5
Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence. (25052512)
2014
6
Mandibular distraction in a 75-day-old child with severe Pierre Robin sequence. (23960331)
2013
7
Rare syndromes of the head and face-Pierre Robin sequence. (23799581)
2013
8
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
9
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
10
Pierre Robin Sequence: evaluation, management, indications for surgery, and pitfalls. (22588044)
2012
11
Mandibular distraction osteogenesis for neonates with Pierre Robin sequence and airway obstruction. (22958047)
2012
12
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review. (22048048)
2012
13
Mandibular distraction instead of tracheostomy in Pierre Robin sequence patients: is it worth it? (23096654)
2012
14
Tracheostomy versus mandibular distraction osteogenesis in Canadian children with Pierre Robin sequence: a comparative cost analysis. (22762703)
2012
15
Facial skeletal morphology in growing children with pierre robin sequence. (21121765)
2012
16
Safety techniques for percutaneous endoscopic gastrostomy tube placement in Pierre Robin Sequence. (21282476)
2011
17
Subglottic stenosis: another challenge for intubation and potential mechanism of airway obstruction in Pierre Robin Sequence. (21742387)
2011
18
A newborn with Pierre Robin sequence after preconceptional mitoxantrone exposure of a female with multiple sclerosis. (21601225)
2011
19
Respiratory management of Pierre Robin sequence using nasopharyngeal airway with Kirschner wire. (19879199)
2010
20
Tongue-lip adhesion in the treatment of Pierre Robin sequence. (19276814)
2009
21
Temporary tongue-lip traction during the initial period of mandibular distraction in Pierre Robin sequence. (19115790)
2009
22
Mandibular traction--an alternative treatment in infants with Pierre Robin sequence. (19761918)
2009
23
A novel technique of retrograde nasal intubation for the Pierre Robin Sequence infant with a known difficult airway. (19691705)
2009
24
CT analysis after distraction osteogenesis in Pierre Robin Sequence. (19160426)
2009
25
Awake laryngeal mask insertion followed by induction of anesthesia in infants with the Pierre Robin sequence. (18823480)
2008
26
Parental perceptions and morbidity: tracheostomy and Pierre Robin sequence. (18718678)
2008
27
Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome? (18541965)
2008
28
A new grading of Pierre Robin sequence. (18956939)
2008
29
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. (17551083)
2007
30
Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report. (17762284)
2007
31
Fatal airway obstruction from percutaneous endoscopic gastrostomy in an infant with Pierre Robin sequence. (17579005)
2007
32
The genetic basis of the Pierre Robin Sequence. (16526920)
2006
33
Tongue-lip adhesion in the management of Pierre Robin sequence with airway obstruction: technique and outcome. (15880984)
2005
34
A feeding obturator for a preterm baby with Pierre Robin sequence. (15674233)
2005
35
Transmandibular K-wire in the management of airway obstruction in Pierre Robin sequence. (15111807)
2004
36
Short case presentation. Pierre-Robin sequence. (15230265)
2004
37
Outcome of tongue-lip plication in patients with severe Pierre Robin sequence. (14501317)
2003
38
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? (12498601)
2003
39
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
40
Higher incidence of twins in infants with Pierre Robin sequence. (11386439)
2001
41
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. (11484197)
2001
42
Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. (11195018)
2001
43
Late presentation of upper airway obstruction in Pierre Robin sequence. (11040155)
2000
44
Craniofacial morphology in young adults with the Pierre Robin sequence and isolated cleft palate. (9298165)
1997
45
Airway obstruction in the Pierre Robin sequence. (8544588)
1995
46
Glossopexy in Pierre Robin sequence using the laryngeal mask airway. (7669324)
1995
47
Pierre Robin sequence and obstructive sleep apnea. (7611952)
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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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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Pathways related to Pierre Robin Sequence according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SOX9, COL9A2
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
9.3KCNJ16, KCNJ2
10
Show member pathways
9.3KCNJ2, KCNJ16
11
Show member pathways
9.3KCNJ16, KCNJ2
129.3COL11A2, COL2A1, SOX9
13
Show member pathways
9.1COL9A2, COL9A1, MAP2K6
149.0COL11A1, COL11A2, COL2A1
159.0COL11A2, COL2A1, COL11A1
16
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.5COL11A2, COL11A1, COL2A1, MAP2K6
17
Show member pathways
8.1COL2A1, COL9A1, COL9A2, COL11A2, COL11A1
188.1COL11A1, COL9A1, COL2A1, COL9A2, COL11A2
19
Show member pathways
8.1COL9A2, COL11A1, COL2A1, COL9A1, COL11A2
20
Show member pathways
8.1COL11A1, COL11A2, COL9A2, COL9A1, COL2A1
21
Show member pathways
7.6COL11A2, MAP2K6, COL9A1, COL2A1, COL11A1, COL9A2
22
Show member pathways
7.2COL9A1, COL2A1, COL11A1, COL9A2, COL11A2, SOX9

Compounds for genes affiliated with Pierre Robin Sequence

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Compounds related to Pierre Robin Sequence according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan449.7SOX9, COL2A1
2alginate449.6SOX9, COL2A1
3p1075619.5KCNJ2, KCNJ16
4levcromakalim619.4KCNJ2, KCNJ16
5tertiapin-q619.4KCNJ2, KCNJ16
6diazoxide44 61 28 1112.3KCNJ2, KCNJ16
7glibenclamide44 28 50 6112.0KCNJ2, KCNJ16

GO Terms for genes affiliated with Pierre Robin Sequence

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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:0057888.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A1
5extracellular regionGO:0055767.8COL9A1, COL11A2, COL9A2, COL11A1, COL2A1

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:0601749.9SOX9, COL2A1
3cellular response to mechanical stimulusGO:0712609.7SOX9, KCNJ2
4proteoglycan metabolic processGO:0060299.5COL11A1, COL2A1
5cartilage developmentGO:0512169.5SOX9, COL11A2, COL2A1
6tissue homeostasisGO:0018949.5COL2A1, COL9A1, SOX9
7inner ear morphogenesisGO:0424729.4COL2A1, COL11A1
8potassium ion transmembrane transportGO:0718059.4KCNJ2, KCNJ16
9cartilage condensationGO:0015029.3SOX9, COL11A1, COL2A1
10palate developmentGO:0600219.3COL2A1, COL11A2
11potassium ion transportGO:0068139.3KCNJ16, KCNJ2
12collagen fibril organizationGO:0301999.2COL11A2, COL11A1, COL2A1
13axon guidanceGO:0074119.2COL2A1, COL9A2, COL9A1
14skeletal system developmentGO:0015019.2SOX9, COL11A2, COL9A2, COL2A1
15sensory perception of soundGO:0076059.2COL11A2, COL2A1, COL11A1
16collagen catabolic processGO:0305748.4COL9A1, COL2A1, COL11A1, COL11A2, COL9A2
17extracellular matrix disassemblyGO:0226178.4COL11A2, COL9A1, COL11A1, COL9A2, COL2A1
18extracellular matrix organizationGO:0301988.1COL11A2, COL9A2, COL2A1, COL9A1, COL11A1, SOX9

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet