MCID: ISL075
MIFTS: 17

Isolated Pierre Robin Sequence malady

Summaries for Isolated Pierre Robin Sequence

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 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 an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue and formation of the palate, leading to glossoptosis and cleft palate.

MalaCards: Isolated Pierre Robin Sequence, also known as pierre robin syndrome, is related to pierre robin sequence and catel manzke syndrome. An important gene associated with Isolated Pierre Robin Sequence is PRBNS (Pierre Robin syndrome).

Aliases & Classifications for Isolated Pierre Robin Sequence

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22Genetics Home Reference, 48OMIM
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Aliases & Descriptions:

isolated pierre robin sequence 22
pierre robin syndrome 22 48
glossoptosis, micrognathia, and cleft palate 22
pierre-robin syndrome 22
robin sequence 22
robin syndrome 22


Related Diseases for Isolated Pierre Robin Sequence

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18GeneCards, 19GeneDecks
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Diseases related to Isolated Pierre Robin Sequence via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin sequence10.8
2catel manzke syndrome10.6
3weissenbacher-zweymüller syndrome10.6
4congenital nonprogressive myopathy with moebius and robin sequences10.6
5cleft palate10.6
6thrombocytopenia robin sequence10.6
7ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence10.5
8mental retardation10.5
9chitayat meunier hodgkinson syndrome10.5
10intellectual disability-brachydactyly-pierre robin syndrome10.5
11nasopharyngitis10.5
12radial defect robin sequence10.5
13pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
14pierre robin syndrome skeletal dysplasia polydactyly10.4
15robin sequence and oligodactyly10.4
16tarp syndrome10.4
17cor pulmonale10.4
18obstructive sleep apnea10.4
19sleep apnea10.4
20toriello carey syndrome10.4
21isolated pierre robin syndrome10.4
22laryngitis10.3
23short stature robin sequence cleft mandible hand anomalies clubfoot10.3
24choanal atresia10.2
25weissenbacher-zweym& 252;ller syndrome10.2
26congenital hypothyroidism10.2
27stickler syndrome10.2
28astrocytoma10.2
29hepatitis10.2
30hypothyroidism10.2
31congenital hepatic fibrosis10.2
32anaplastic astrocytoma10.2
33caudal regression syndrome10.2
34isolated levocardia10.2
35richieri costa pereira syndrome10.2
36hypoglossia - hypodactyly10.2
37pharyngitis10.2
38brachydactyly10.2
39distal arthrogryposis10.2
40esophagitis10.2
41synostosis10.2
42cerebro-costo-mandibular syndrome10.2
43congenital microgastria10.2
44neurofibromatosis10.1
45crouzon syndrome10.1
46radioulnar synostosis10.1
47aicardi syndrome10.1
48clubfoot10.1
49esophageal atresia10.1
50multiple epiphyseal dysplasia10.1

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



Diseases related to isolated pierre robin sequence

Symptoms for Isolated Pierre Robin Sequence

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Drugs & Therapeutics for Isolated Pierre Robin Sequence

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Isolated Pierre Robin Sequence

Genetic Tests for Isolated Pierre Robin Sequence

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Anatomical Context for Isolated Pierre Robin Sequence

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Animal Models for Isolated Pierre Robin Sequence or affiliated genes

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Publications for Isolated Pierre Robin Sequence

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53PubMed
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Articles related to Isolated Pierre Robin Sequence:

idTitleAuthorsYear
1
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. (23532965)
2013
2
Facial profile evaluation of isolated pierre robin sequence. (21214326)
2012
3
To distract or not to distract: an algorithm for airway management in isolated Pierre Robin sequence. (15083010)
2004
4
Airway management in patients with isolated Pierre Robin sequence during the first year of life. (12867857)
2003
5
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. (12012224)
2002
6
Neurophysiological brainstem investigations in isolated Pierre Robin sequence. (10854801)
2000

Variations for Isolated Pierre Robin Sequence

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Expression for genes affiliated with Isolated Pierre Robin Sequence

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16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Isolated Pierre Robin Sequence.

Pathways for genes affiliated with Isolated Pierre Robin Sequence

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Compounds for genes affiliated with Isolated Pierre Robin Sequence

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GO Terms for genes affiliated with Isolated Pierre Robin Sequence

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Products for genes affiliated with Isolated Pierre Robin Sequence

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Isolated Pierre Robin Sequence

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet