MCID: ISL075
MIFTS: 20

Isolated Pierre Robin Sequence malady

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Summaries for Isolated Pierre Robin Sequence

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Genetics Home Reference:21 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 based summary: 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). Affiliated tissues include tongue.

Aliases & Classifications for Isolated Pierre Robin Sequence

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Isolated Pierre Robin Sequence, Aliases & Descriptions:

Name: Isolated Pierre Robin Sequence 21
Pierre Robin Syndrome 21 46 62
Glossoptosis, Micrognathia, and Cleft Palate 21
 
Pierre-Robin Syndrome 21
Robin Syndrome 21
Robin Sequence 21


Related Diseases for Isolated Pierre Robin Sequence

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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 75)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin sequence10.8
2catel manzke syndrome10.7
3weissenbacher-zweymüller syndrome10.6
4congenital nonprogressive myopathy with moebius and robin sequences10.6
5thrombocytopenia robin sequence10.6
6ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence10.6
7mental retardation10.5
8chitayat meunier hodgkinson syndrome10.5
9intellectual disability-brachydactyly-pierre robin syndrome10.5
10radial defect robin sequence10.5
11pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
12pierre robin syndrome skeletal dysplasia polydactyly10.4
13robin sequence and oligodactyly10.4
14tarp syndrome10.4
15cor pulmonale10.4
16obstructive sleep apnea10.4
17sleep apnea10.4
18toriello carey syndrome10.4
19isolated pierre robin syndrome10.4
20esophagitis10.3
21laryngitis10.3
22short stature robin sequence cleft mandible hand anomalies clubfoot10.3
23hepatitis10.3
24cleft palate10.3
25choanal atresia10.3
26congenital hypothyroidism10.3
27stickler syndrome10.3
28weissenbacher-zweym& 252;ller syndrome10.3
29nasopharyngitis10.3
30astrocytoma10.3
31hypothyroidism10.3
32congenital hepatic fibrosis10.3
33caudal regression syndrome10.3
34richieri costa pereira syndrome10.3
35teratoma10.3
36hypoglossia - hypodactyly10.3
37nasopharyngeal teratoma10.3
38pharyngitis10.2
39brachydactyly10.2
40distal arthrogryposis10.2
41synostosis10.2
42congenital microgastria10.2
43crouzon syndrome10.1
44ectodermal dysplasia10.1
45lymphedema10.1
46multiple sclerosis10.1
47thrombocytopenia10.1
48campomelic dysplasia10.1
49diastrophic dysplasia10.1
50radioulnar synostosis10.1

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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Drug clinical trials:

Search ClinicalTrials for Isolated Pierre Robin Sequence

Search NIH Clinical Center 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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MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

32
Tongue

Animal Models for Isolated Pierre Robin Sequence or affiliated genes

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Publications for Isolated Pierre Robin Sequence

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Articles related to Isolated Pierre Robin Sequence:

idTitleAuthorsYear
1
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. (25043979)
2014
2
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. (23532965)
2013
3
Facial profile evaluation of isolated pierre robin sequence. (21214326)
2012
4
To distract or not to distract: an algorithm for airway management in isolated Pierre Robin sequence. (15083010)
2004
5
Airway management in patients with isolated Pierre Robin sequence during the first year of life. (12867857)
2003
6
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. (12012224)
2002
7
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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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

Sources for Isolated 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