MCID: DYS038
MIFTS: 17

Dysgnathia Complex malady

Rare diseases category

Aliases & Classifications for Dysgnathia Complex

About this section

Dysgnathia Complex, Aliases & Descriptions:

Name: Dysgnathia Complex 41 22 60
Agnathia-Holoprosencephaly 41
 
Holoprosencephaly-Agnathia 41


Classifications:

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


Summaries for Dysgnathia Complex

About this section


MalaCards based summary: Dysgnathia Complex, also known as agnathia-holoprosencephaly, is related to agnathia - holoprosencephaly - situs inversus 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.

Related Diseases for Dysgnathia Complex

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1agnathia - holoprosencephaly - situs inversus10.6
2situs inversus10.4
3auriculo-condylar syndrome10.3
4agnathia-otocephaly complex10.2PRRX1
5auriculocondylar syndrome 210.2
6holoprosencephaly10.2

Graphical network of diseases related to Dysgnathia Complex:



Diseases related to dysgnathia complex

Symptoms for Dysgnathia Complex

About this section

Drugs & Therapeutics for Dysgnathia Complex

About this section

Drug clinical trials:

Search ClinicalTrials for Dysgnathia Complex

Search NIH Clinical Center for Dysgnathia Complex

Genetic Tests for Dysgnathia Complex

About this section

Genetic tests related to Dysgnathia Complex:

id Genetic test Affiliating Genes
1 Dysgnathia Complex22

Anatomical Context for Dysgnathia Complex

About this section

Animal Models for Dysgnathia Complex or affiliated genes

About this section

MGI Mouse Phenotypes related to Dysgnathia Complex:

35
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

About this section

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

About this section

Clinvar genetic disease variations for Dysgnathia Complex:

6
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Dysgnathia Complex.

Pathways for genes affiliated with Dysgnathia Complex

About this section

Compounds for genes affiliated with Dysgnathia Complex

About this section

GO Terms for genes affiliated with Dysgnathia Complex

About this section

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

idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:00424729.1OTX2, PRRX1

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1OTX2, PRRX1

Products for genes affiliated with Dysgnathia Complex

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dysgnathia Complex

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet