MCID: DYS038
MIFTS: 13

Dysgnathia Complex malady

Rare diseases category
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Summaries for Dysgnathia Complex

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33MalaCards
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MalaCards: Dysgnathia Complex, also known as agnathia-holoprosencephaly, is related to situs inversus and auriculo-condylar syndrome. An important gene associated with Dysgnathia Complex is OTX2 (orthodenticle homeobox 2).

Aliases & Classifications for Dysgnathia Complex

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Sources:
43NIH Rare Diseases, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

dysgnathia complex 43 22 62
agnathia-holoprosencephaly 43
holoprosencephaly-agnathia 43


Related Diseases for Dysgnathia Complex

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17GeneCards, 18GeneDecks
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Diseases related to Dysgnathia Complex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1situs inversus10.4
2auriculo-condylar syndrome10.3
3agnathia-otocephaly complex10.2
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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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Publications for Dysgnathia Complex

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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dysgnathia Complex:

1
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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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Products for genes affiliated with Dysgnathia Complex

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysgnathia Complex

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet