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 An important gene associated with Dysgnathia Complex is OTX2 (Orthodenticle Homeobox 2). Related mouse phenotype 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 complex11.2
2auriculocondylar syndrome 111.1
3auriculo-condylar syndrome11.1
4auriculocondylar syndrome 210.9
5holoprosencephaly9.8
6macular degeneration, age-related, 19.8OTX2, PRRX1
7eales disease9.7OTX2, PRRX1

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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP: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
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. (24167467)
2013
2
Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology. (23610864)
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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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:00459449.8OTX2, PRRX1
2transcription from RNA polymerase II promoterGO:00063669.1OTX2, PRRX1

Molecular functions related to Dysgnathia Complex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1OTX2, 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