MCID: DYS038
MIFTS: 16

Dysgnathia Complex malady

Rare diseases category

Aliases & Classifications for Dysgnathia Complex

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Aliases & Descriptions for Dysgnathia Complex:

Name: Dysgnathia Complex 45 24 65
Holoprosencephaly-Agnathia 45
 
Agnathia-Holoprosencephaly 45


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 situs inversus. 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 complex30.2OTX2, PRRX1
2situs inversus10.5
3auriculo-condylar syndrome10.3
4auriculocondylar syndrome 110.2
5auriculocondylar syndrome 210.2
6holoprosencephaly10.2
7dyskeratosis congenita autosomal dominant9.7OTX2, PRRX1

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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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 Complex24

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1OTX2, PRRX1
2MP:00053778.8OTX2, 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
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)single nucleotide variantPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
2PRRX1PRRX1, ALA231PROsingle nucleotide variantPathogenic
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
1neuron fate determinationGO:00486649.5OTX2, PRRX1
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1OTX2, PRRX1
3inner ear morphogenesisGO:00424728.8OTX2, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet