MCID: DYS038
MIFTS: 20

Dysgnathia Complex malady

Rare diseases category
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Summaries for Dysgnathia Complex

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MalaCards based summary: Dysgnathia Complex, also known as agnathia-holoprosencephaly, is related to agnathia-otocephaly complex and situs inversus. An important gene associated with Dysgnathia Complex is PRRX1 (paired related homeobox 1). Related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Dysgnathia Complex

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Dysgnathia Complex, Aliases & Descriptions:

Name: Dysgnathia Complex 42 22 62
Agnathia-Holoprosencephaly 42 62
 
Holoprosencephaly-Agnathia 42 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Dysgnathia Complex

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

idRelated DiseaseScoreTop Affiliating Genes
1agnathia-otocephaly complex30.7PRRX1
2situs inversus10.4
3auriculo-condylar syndrome10.3
4holoprosencephaly10.2
5auriculocondylar syndrome 210.2

Graphical network of diseases related to Dysgnathia Complex:



Diseases related to dysgnathia complex

Symptoms for Dysgnathia Complex

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Drugs & Therapeutics for Dysgnathia Complex

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Drug clinical trials:

Search ClinicalTrials for Dysgnathia Complex

Search 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 Complex22

Anatomical Context for Dysgnathia Complex

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Animal Models for Dysgnathia Complex or affiliated genes

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MGI Mouse Phenotypes related to Dysgnathia Complex:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3OTX2, PRRX1
2MP:00053829.3OTX2, PRRX1
3MP:00053889.2OTX2, PRRX1
4MP:00053819.2OTX2, PRRX1
5MP:00053919.1PRRX1, OTX2
6MP:00053859.1OTX2, PRRX1
7MP:00053909.0OTX2, PRRX1
8MP:00053808.8OTX2, PRRX1

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

Variations for Dysgnathia Complex

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Clinvar genetic disease variations for Dysgnathia Complex:

6
id Gene Name Type Significance SNP ID Assembly Location
1PRRX1NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser)single nucleotide variantPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
2PRRX1NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs)deletionPathogenicrs398122375GRCh37Chr 1, 170688894: 170688894
3PRRX1NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs)duplicationPathogenicrs398122376GRCh37Chr 1, 170688891: 170688894

Expression for genes affiliated with Dysgnathia Complex

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Expression patterns in normal tissues for genes affiliated with Dysgnathia Complex

Search GEO for disease gene expression data for Dysgnathia Complex.

Pathways for genes affiliated with Dysgnathia Complex

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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:0424729.1OTX2, PRRX1

Molecular functions related to Dysgnathia Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1OTX2, PRRX1

Products for genes affiliated with Dysgnathia Complex

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dysgnathia Complex

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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