Aliases & Classifications for Dysgnathia Complex

MalaCards integrated aliases for Dysgnathia Complex:

Name: Dysgnathia Complex 20 6 39 70
Holoprosencephaly-Agnathia 20
Auriculo-Condylar Syndrome 70
Agnathia-Holoprosencephaly 20

Classifications:



External Ids:

UMLS 70 C1865295 C1876185

Summaries for Dysgnathia Complex

MalaCards based summary : Dysgnathia Complex, also known as holoprosencephaly-agnathia, is related to agnathia-otocephaly complex and auriculo-condylar syndrome, and has symptoms including apnea and snoring. An important gene associated with Dysgnathia Complex is PRRX1 (Paired Related Homeobox 1). Affiliated tissues include salivary gland.

Wikipedia : 73 Otocephaly, also known as agnathia-otocephaly complex, is a very rare and lethal cephalic disorder... more...

Related Diseases for Dysgnathia Complex

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 agnathia-otocephaly complex 11.5
2 auriculo-condylar syndrome 11.3
3 auriculocondylar syndrome 1 11.3
4 auriculocondylar syndrome 2 11.1
5 situs inversus 10.5
6 alobar holoprosencephaly 10.2
7 microphthalmia, syndromic 5 10.1
8 alcohol dependence 10.1
9 anencephaly 10.1
10 dextrocardia with situs inversus 10.1
11 cleft palate, isolated 10.0
12 teeth present at birth 10.0
13 fryns microphthalmia syndrome 10.0
14 microphthalmia 10.0
15 respiratory failure 10.0
16 craniosynostosis 10.0
17 holoprosencephaly 10.0
18 polyhydramnios 10.0
19 colobomatous microphthalmia 10.0

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:


apnea; snoring

Drugs & Therapeutics for Dysgnathia Complex

Search Clinical Trials , NIH Clinical Center for Dysgnathia Complex

Genetic Tests for Dysgnathia Complex

Anatomical Context for Dysgnathia Complex

MalaCards organs/tissues related to Dysgnathia Complex:

40
Salivary Gland

Publications for Dysgnathia Complex

Articles related to Dysgnathia Complex:

(show all 18)
# Title Authors PMID Year
1
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 6
23444262 2013
2
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. 6
22674740 2012
3
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents. 6
22211708 2012
4
PRRX1 is mutated in a fetus with agnathia-otocephaly. 6
21294718 2011
5
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. 6
12244557 2002
6
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity. 61
32201334 2020
7
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 61
24167467 2013
8
Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology. 61
23610864 2013
9
OTX2 mutations contribute to the otocephaly-dysgnathia complex. 61
22577225 2012
10
Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects. 61
23055936 2012
11
Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses. 61
21706511 2011
12
[Dysgnathia complex, a rare deviation]. 61
18686566 2008
13
Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). 61
17152114 2007
14
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? 61
17159508 2007
15
Embryonic salivary gland dysmorphogenesis in Twisted gastrulation deficient mice. 61
16289463 2006
16
Airway management during an EXIT procedure for a fetus with dysgnathia complex. 61
15330963 2004
17
Transmission of the dysgnathia complex from mother to daughter. 61
11102934 2000
18
A long surviving case of holoprosencephaly agnathia series. 61
1873621 1991

Variations for Dysgnathia Complex

ClinVar genetic disease variations for Dysgnathia Complex:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRRX1 NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser) SNV Pathogenic 29825 rs387906667 GRCh37: 1:170688963-170688963
GRCh38: 1:170719822-170719822
2 PRRX1 NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro) SNV Pathogenic 29826 rs1571354325 GRCh37: 1:170705280-170705280
GRCh38: 1:170736139-170736139
3 PRRX1 NM_022716.4(PRRX1):c.269del (p.Lys90fs) Deletion Pathogenic 50496 rs398122375 GRCh37: 1:170688888-170688888
GRCh38: 1:170719747-170719747
4 PRRX1 NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs) Duplication Pathogenic 50497 rs398122375 GRCh37: 1:170688887-170688888
GRCh38: 1:170719746-170719747
5 PRRX1 NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro) SNV Likely pathogenic 982406 GRCh37: 1:170688942-170688942
GRCh38: 1:170719801-170719801
6 PRRX1 NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp) SNV Uncertain significance 587496 rs756620309 GRCh37: 1:170688968-170688968
GRCh38: 1:170719827-170719827

Expression for Dysgnathia Complex

Search GEO for disease gene expression data for Dysgnathia Complex.

Pathways for Dysgnathia Complex

GO Terms for Dysgnathia Complex

Sources for Dysgnathia Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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