MCID: ISL074
MIFTS: 20

Isolated Pierre Robin Sequence malady

Summaries for Isolated Pierre Robin Sequence

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21Genetics Home Reference, 33MalaCards
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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 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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21Genetics Home Reference, 47OMIM, 61UMLS
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Aliases & Descriptions:

isolated pierre robin sequence 21
pierre robin syndrome 21 47
glossoptosis, micrognathia, and cleft palate 21
isolated lutropin deficiency 61
pierre-robin syndrome 21
robin syndrome 21
robin sequence 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 65)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin sequence10.7
2catel manzke syndrome10.6
3cleft palate10.6
4congenital nonprogressive myopathy with moebius and robin sequences10.6
5thrombocytopenia robin sequence10.5
6ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence10.5
7chitayat meunier hodgkinson syndrome10.5
8weissenbacher-zweymuller syndrome10.5
9intellectual disability-brachydactyly-pierre robin syndrome10.5
10radial defect robin sequence10.4
11pierre robin sequence with pectus excavatum and rib and scapular anomalies10.4
12weissenbacher-zweymüller syndrome10.4
13robin sequence and oligodactyly10.4
14pierre robin syndrome skeletal dysplasia polydactyly10.4
15tarp syndrome10.4
16weissenbacher-zweym�ller syndrome10.4
17toriello carey syndrome10.4
18short stature robin sequence cleft mandible hand anomalies clubfoot10.4
19cleft palate, isolated10.4
20sleep apnea10.4
21isolated pierre robin syndrome10.4
22fertile eunuch syndrome10.2
23congenital hypothyroidism10.2
24weissenbacher-zweym& 252;ller syndrome10.2
25stickler syndrome10.2
26n syndrome10.2
27astrocytoma10.2
28congenital hepatic fibrosis10.2
29anaplastic astrocytoma10.2
30caudal regression syndrome10.2
31neonatal hypothyroidism10.2
32richieri costa pereira syndrome10.2
33hypoglossia - hypodactyly10.2
34unilateral choanal atresia10.2
35brachydactyly10.2
36distal arthrogryposis10.2
37synostosis10.2
38micro syndrome10.2
39corpus callosum agenesis10.2
40cerebro-costo-mandibular syndrome10.2
41congenital microgastria10.2
42diastrophic dysplasia10.1
43neurofibromatosis10.1
44multiple epiphyseal dysplasia10.1
45campomelic dysplasia10.1
46radioulnar synostosis10.1
47crouzon syndrome10.1
48aicardi syndrome10.1
49clubfoot10.1
50esophageal atresia10.1

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

Drugs & Therapeutics for Isolated Pierre Robin Sequence

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Isolated Pierre Robin Sequence

Anatomical Context for Isolated Pierre Robin Sequence

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33MalaCards
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MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

33
Tongue

Animal Models for Isolated Pierre Robin Sequence or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Isolated Pierre Robin Sequence

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51PubMed
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Articles related to Isolated Pierre Robin Sequence:

(show all 11)
idTitleAuthorsYear
1
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. (22447382)
2013
2
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. (23532965)
2013
3
Isolated Versus Pierre Robin Sequence Cleft Palates: Are They Different? (23802694)
2013
4
Facial profile evaluation of isolated pierre robin sequence. (21214326)
2012
5
To distract or not to distract: an algorithm for airway management in isolated Pierre Robin sequence. (15083010)
2004
6
Airway management in patients with isolated Pierre Robin sequence during the first year of life. (12867857)
2003
7
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. (12012224)
2002
8
Neurophysiological brainstem investigations in isolated Pierre Robin sequence. (10854801)
2000
9
Sizes of dental arches in young adult patients with Pierre Robin sequence and isolated cleft palate. (9669458)
1998
10
Craniofacial morphology in young adults with the Pierre Robin sequence and isolated cleft palate. (9298165)
1997
11
Growth in children with Pierre Robin sequence and isolated cleft palate. (7841731)
1994

Genetic Variations for Isolated Pierre Robin Sequence

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

Compounds for genes affiliated with Isolated Pierre Robin Sequence

GO Terms for genes affiliated with Isolated Pierre Robin Sequence

Products for genes affiliated with Isolated Pierre Robin Sequence

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Sources for Isolated Pierre Robin Sequence

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet