MCID: ISL075
MIFTS: 15

Isolated Pierre Robin Sequence malady

Summaries for Isolated Pierre Robin Sequence

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21Genetics Home Reference, 32MalaCards
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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: Isolated Pierre Robin Sequence, also known as pierre robin syndrome, is related to catel manzke syndrome and cleft palate. 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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21Genetics Home Reference, 46OMIM
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Aliases & Descriptions:

isolated pierre robin sequence 21
pierre robin syndrome 21 46
glossoptosis, micrognathia, and cleft palate 21
pierre-robin syndrome 21
robin sequence 21
robin syndrome 21


Related Diseases for Isolated Pierre Robin Sequence

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17GeneCards, 18GeneDecks
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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 56)
idRelated DiseaseScoreTop Affiliating Genes
1catel manzke syndrome10.6
2cleft palate10.6
3congenital nonprogressive myopathy with moebius and robin sequences10.6
4weissenbacher-zweymuller syndrome10.5
5thrombocytopenia robin sequence10.5
6ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence10.5
7chitayat meunier hodgkinson syndrome10.5
8intellectual disability-brachydactyly-pierre robin syndrome10.5
9nasopharyngitis10.4
10radial defect robin sequence10.4
11pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
12pierre robin sequence10.4
13weissenbacher-zweymüller syndrome10.4
14robin sequence and oligodactyly10.4
15pierre robin syndrome skeletal dysplasia polydactyly10.4
16tarp syndrome10.4
17toriello carey syndrome10.4
18isolated pierre robin syndrome10.3
19laryngitis10.3
20short stature robin sequence cleft mandible hand anomalies clubfoot10.3
21weissenbacher-zweym& 252;ller syndrome10.2
22stickler syndrome10.2
23astrocytoma10.2
24cerebellar astrocytoma10.2
25choanal atresia10.2
26hepatitis10.2
27congenital hepatic fibrosis10.2
28isolated levocardia10.2
29richieri costa pereira syndrome10.2
30hypoglossia - hypodactyly10.2
31brachydactyly10.2
32distal arthrogryposis10.2
33pharyngitis10.2
34esophagitis10.2
35synostosis10.2
36diastrophic dysplasia10.0
37neurofibromatosis10.0
38multiple epiphyseal dysplasia10.0
39campomelic dysplasia10.0
40radioulnar synostosis10.0
41crouzon syndrome10.0
42aicardi syndrome10.0
43clubfoot10.0
44esophageal atresia10.0
45congenital diaphragmatic hernia10.0
46dysostosis10.0
47lymphedema10.0
48meningioma10.0
49multiple sclerosis10.0
50oligohydramnios10.0

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



Diseases related to isolated pierre robin sequence

Clinical Features for Isolated Pierre Robin Sequence

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Drugs & Therapeutics for Isolated Pierre Robin Sequence

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Isolated Pierre Robin Sequence

Search NIH Clinical Center for Isolated Pierre Robin Sequence

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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32MalaCards
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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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Genetic Variations for Isolated Pierre Robin Sequence

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Expression for genes affiliated with Isolated Pierre Robin Sequence

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15Gene 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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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