MCID: PRR010
MIFTS: 32

Pierre Robin Sequence malady

Summaries for Pierre Robin Sequence

About this section
Sources:
42NIH Rare Diseases, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: 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 eye, heart and testes, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Aliases & Classifications for Pierre Robin Sequence

About this section
Sources:
42NIH Rare Diseases, 44Novoseek, 60UMLS
See all sources

Aliases & Descriptions:

pierre robin sequence 42 44
glossoptosis, micrognathia, and cleft palate 42
pierre-robin syndrome 42
pierre robin syndrome 60


Related Diseases for Pierre Robin Sequence

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 67)
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 sequence10.7
6nasopharyngitis10.7
7laryngitis10.5
8robin sequence and oligodactyly10.5
9intellectual disability-brachydactyly-pierre robin syndrome10.5
10distal arthrogryposis10.4
11pharyngitis10.4
12esophagitis10.4
13pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
14weissenbacher-zweymüller syndrome10.4
15pierre robin syndrome skeletal dysplasia polydactyly10.4
16neurofibromatosis10.3
17radioulnar synostosis10.3
18crouzon syndrome10.3
19aicardi syndrome10.3
20esophageal atresia10.3
21congenital diaphragmatic hernia10.3
22meningioma10.3
23multiple sclerosis10.3
24oligohydramnios10.3
25otitis media10.3
26periodontitis10.3
27synostosis10.3
28stickler syndrome type 110.3
29congenital nonprogressive myopathy with moebius and robin sequences10.3
30catel manzke syndrome10.3
31chitayat meunier hodgkinson syndrome10.3
32toriello carey syndrome10.3
33tarp syndrome10.3
34richieri costa pereira syndrome10.3
35isolated pierre robin syndrome10.3
36congenital hypothyroidism10.2
37weissenbacher-zweym& 252;ller syndrome10.2
38astrocytoma10.2
39cerebellar astrocytoma10.2
40choanal atresia10.2
41congenital heart defect10.2
42hepatitis10.2
43hypothyroidism10.2
44congenital hepatic fibrosis10.2
45isolated levocardia10.2
46hypoglossia - hypodactyly10.2
47marshall syndrome10.0COL11A1
48short stature10.0COL2A1
49vitreoretinal dystrophy10.0COL11A1
50degenerative disc disease10.0COL9A2

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



Diseases related to pierre robin sequence

Clinical Features for Pierre Robin Sequence

About this section

Drugs & Therapeutics for Pierre Robin Sequence

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Pierre Robin Sequence

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Pierre Robin Sequence:

32
Eye, Heart, Testes, Tongue

Animal Models for Pierre Robin Sequence or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Pierre Robin Sequence:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8SOX9, KCNJ2, COL2A1, COL11A1
2MP:00053718.5SOX9, COL9A1, COL2A1, COL11A1
3MP:00053888.5COL11A1, COL2A1, KCNJ2, SOX9
4MP:00053828.3COL11A1, COL2A1, COL11A2, KCNJ2, SOX9
5MP:00053778.2COL11A1, COL2A1, COL11A2, COL9A1, SOX9
6MP:00053907.1SOX9, KCNJ2, KCNJ16, COL9A1, COL11A2, COL2A1

Publications for Pierre Robin Sequence

About this section

Genetic Variations for Pierre Robin Sequence

About this section

Expression for genes affiliated with Pierre Robin Sequence

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
See all sources

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

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1alginate449.4SOX9, COL2A1
2tertiapin-q599.4KCNJ2, KCNJ16
3levcromakalim599.4KCNJ2, KCNJ16
4p1075599.3KCNJ2, KCNJ16
5glibenclamide44 28 49 5912.3KCNJ2, KCNJ16
6diazoxide44 59 28 1112.2KCNJ16, KCNJ2

GO Terms for genes affiliated with Pierre Robin Sequence

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pierre Robin Sequence

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet