Aliases & Classifications for Dysgnathia Complex

MalaCards integrated aliases for Dysgnathia Complex:

Name: Dysgnathia Complex 49 28 69
Holoprosencephaly-Agnathia 49
Auriculo-Condylar Syndrome 69
Agnathia-Holoprosencephaly 49

Classifications:



External Ids:

Summaries for Dysgnathia Complex

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 and apnea. An important gene associated with Dysgnathia Complex is PRRX1 (Paired Related Homeobox 1). Related phenotype is hearing/vestibular/ear.

Related Diseases for Dysgnathia Complex

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

# Related Disease Score Top Affiliating Genes
1 agnathia-otocephaly complex 31.2 OTX2 PRRX1
2 auriculocondylar syndrome 1 11.6
3 auriculo-condylar syndrome 11.3
4 auriculocondylar syndrome 2 11.1
5 holoprosencephaly 9.9

Graphical network of the top 20 diseases related to Dysgnathia Complex:



Diseases related to Dysgnathia Complex

Symptoms & Phenotypes for Dysgnathia Complex

UMLS symptoms related to Dysgnathia Complex:


snoring, apnea

MGI Mouse Phenotypes related to Dysgnathia Complex:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 OTX2 PRRX1

Drugs & Therapeutics for Dysgnathia Complex

Search Clinical Trials , NIH Clinical Center for Dysgnathia Complex

Genetic Tests for Dysgnathia Complex

Genetic tests related to Dysgnathia Complex:

# Genetic test Affiliating Genes
1 Dysgnathia Complex 28 PRRX1

Anatomical Context for Dysgnathia Complex

Publications for Dysgnathia Complex

Articles related to Dysgnathia Complex:

# Title Authors Year
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

ClinVar genetic disease variations for Dysgnathia Complex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRRX1 NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 GRCh37 Chromosome 1, 170688963: 170688963
2 PRRX1 PRRX1, ALA231PRO single nucleotide variant Pathogenic
3 PRRX1 NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh37 Chromosome 1, 170688894: 170688894
4 PRRX1 NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs) duplication Pathogenic rs398122376 GRCh37 Chromosome 1, 170688891: 170688894

Expression for Dysgnathia Complex

Search GEO for disease gene expression data for Dysgnathia Complex.

Pathways for Dysgnathia Complex

GO Terms for Dysgnathia Complex

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.96 OTX2 PRRX1
2 transcription by RNA polymerase II GO:0006366 8.62 OTX2 PRRX1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.96 OTX2 PRRX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.62 OTX2 PRRX1

Sources for Dysgnathia Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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