MCID: DYS038
MIFTS: 17

Dysgnathia Complex malady

Category: Rare diseases

Aliases & Classifications for Dysgnathia Complex

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Aliases & Descriptions for Dysgnathia Complex:

Name: Dysgnathia Complex 48 27 68
Holoprosencephaly-Agnathia 48
 
Auriculo-Condylar Syndrome 68
Agnathia-Holoprosencephaly 48

Classifications:



Summaries for Dysgnathia Complex

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MalaCards based summary: Dysgnathia Complex, also known as holoprosencephaly-agnathia, is related to agnathia-otocephaly complex and auriculocondylar syndrome 1, and has symptoms including snoring, respiratory distress and respiratory distress. An important gene associated with Dysgnathia Complex is PRRX1 (Paired Related Homeobox 1). Related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Related Diseases for Dysgnathia Complex

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Diseases related to Dysgnathia Complex via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1agnathia-otocephaly complex31.2OTX2, PRRX1
2auriculocondylar syndrome 111.1
3auriculo-condylar syndrome11.1
4auriculocondylar syndrome 210.9
5holoprosencephaly9.8

Graphical network of diseases related to Dysgnathia Complex:



Diseases related to dysgnathia complex

Symptoms & Phenotypes for Dysgnathia Complex

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UMLS symptoms related to Dysgnathia Complex:


snoring, respiratory distress

MGI Mouse Phenotypes related to Dysgnathia Complex according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.8OTX2, PRRX1
2MP:00053779.1OTX2, PRRX1

Drugs & Therapeutics for Dysgnathia Complex

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dysgnathia Complex

Genetic Tests for Dysgnathia Complex

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Genetic tests related to Dysgnathia Complex:

id Genetic test Affiliating Genes
1 Dysgnathia Complex27

Anatomical Context for Dysgnathia Complex

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Publications for Dysgnathia Complex

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Articles related to Dysgnathia Complex:

idTitleAuthorsYear
1
Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology. (23610864)
2013
2
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. (24167467)
2013
3
OTX2 mutations contribute to the otocephaly-dysgnathia complex. (22577225)
2012
4
Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). (17152114)
2007
5
Airway management during an EXIT procedure for a fetus with dysgnathia complex. (15330963)
2004
6
Transmission of the dysgnathia complex from mother to daughter. (11102934)
2000

Variations for Dysgnathia Complex

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Clinvar genetic disease variations for Dysgnathia Complex:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRRX1NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser)SNVPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
2PRRX1PRRX1, ALA231PROSNVPathogenicChr na, -1: -1
3PRRX1NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs)deletionPathogenicrs398122375GRCh37Chr 1, 170688894: 170688894
4PRRX1NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs)duplicationPathogenicrs398122376GRCh37Chr 1, 170688891: 170688894

Expression for genes affiliated with Dysgnathia Complex

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Search GEO for disease gene expression data for Dysgnathia Complex.

Pathways for genes affiliated with Dysgnathia Complex

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GO Terms for genes affiliated with Dysgnathia Complex

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Biological processes related to Dysgnathia Complex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:00459449.1OTX2, PRRX1

Sources for Dysgnathia Complex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet