MCID: ARC008
MIFTS: 29

Auriculo-Condylar Syndrome malady

Rare diseases, Ear diseases, Fetal diseases categories

Summaries for Auriculo-Condylar Syndrome

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Genetics Home Reference:21 Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).

MalaCards based summary: Auriculo-Condylar Syndrome, also known as auriculocondylar syndrome, is related to auriculocondylar syndrome 1 and dysgnathia complex. An important gene associated with Auriculo-Condylar Syndrome is PLCB4 (phospholipase C, beta 4), and among its related pathways are Gastrin-CREB signalling pathway via PKC and MAPK and Ca-dependent events. The compounds inositol 1,4,5 trisphosphate and pd 98,059 have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are cardiovascular system and skeleton.

Aliases & Classifications for Auriculo-Condylar Syndrome

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Auriculo-Condylar Syndrome, Aliases & Descriptions:

Name: Auriculo-Condylar Syndrome 41 21 60
Auriculocondylar Syndrome 41 21 47 22
Question Mark Ear Syndrome 41 47
Dysgnathia Complex 21 60
 
Ears Prominent and Constricted 41
Question-Mark Ear Syndrome 21
Question Mark Ear 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Ear diseases


Characteristics (Orphanet epidemiological data):

47
auriculocondylar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 137888
MESH via Orphanet34 C538270
ICD10 via Orphanet26 Q75.8
UMLS via Orphanet61 C1865295

Related Diseases for Auriculo-Condylar Syndrome

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Diseases related to Auriculo-Condylar Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1auriculocondylar syndrome 130.6GNAI3
2dysgnathia complex10.7
3auriculocondylar syndrome 210.6
4question mark ears, isolated10.5
5auriculocondylar syndrome 310.5
6cholesteatoma10.3
7microtia10.3
8hypotonia10.3
9holoprosencephaly10.2

Graphical network of diseases related to Auriculo-Condylar Syndrome:



Diseases related to auriculo-condylar syndrome

Symptoms for Auriculo-Condylar Syndrome

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Drugs & Therapeutics for Auriculo-Condylar Syndrome

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Drug clinical trials:

Search ClinicalTrials for Auriculo-Condylar Syndrome

Search NIH Clinical Center for Auriculo-Condylar Syndrome

Genetic Tests for Auriculo-Condylar Syndrome

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Genetic tests related to Auriculo-Condylar Syndrome:

id Genetic test Affiliating Genes
1 Auriculocondylar Syndrome22

Anatomical Context for Auriculo-Condylar Syndrome

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MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

31
Bone

Animal Models for Auriculo-Condylar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Auriculo-Condylar Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5PRRX1, GNAI3, EDN1
2MP:00053907.7PLCB4, PRRX1, GNAI3, EDN1

Publications for Auriculo-Condylar Syndrome

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Articles related to Auriculo-Condylar Syndrome:

(show all 12)
idTitleAuthorsYear
1
Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis. (22865651)
2013
2
Auriculo-condylar syndrome. (22050072)
2012
3
Auriculo-condylar syndrome. Confronting a diagnostic challenge. (22105959)
2012
4
Novel features in auriculo-condylar syndrome. (20733479)
2011
5
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. (18000524)
2008
6
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? (17159508)
2007
7
The correction of auricular and mandibular deformities in auriculo-condylar syndrome. (15915123)
2005
8
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. (16114046)
2005
9
Auriculo-condylar syndrome or new syndrome? (12002148)
2002
10
Auriculo-condylar syndrome: additional patients. (12244558)
2002
11
Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity? (11045585)
2000
12
Auriculo-condylar syndrome: further evidence for a new disorder. (10449647)
1999

Variations for Auriculo-Condylar Syndrome

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Clinvar genetic disease variations for Auriculo-Condylar Syndrome:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1EDN1NM_001955.4(EDN1): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicGRCh37Chr 6, 12294211: 12294211
2EDN1NM_001955.4(EDN1): c.230C> A (p.Pro77His)single nucleotide variantPathogenicGRCh37Chr 6, 12292739: 12292739
3PRRX1NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser)single nucleotide variantPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
4GNAI3NM_006496.3(GNAI3): c.118G> C (p.Gly40Arg)single nucleotide variantPathogenicrs387907178GRCh37Chr 1, 110091460: 110091460
5PLCB4NM_001172646.1(PLCB4): c.1904A> G (p.Tyr635Cys)single nucleotide variantPathogenicrs397514480GRCh37Chr 20, 9389733: 9389733
6PLCB4NM_001172646.1(PLCB4): c.986A> G (p.Asn329Ser)single nucleotide variantPathogenicrs387907179GRCh37Chr 20, 9364980: 9364980
7PLCB4NM_001172646.1(PLCB4): c.1898G> A (p.Arg633His)single nucleotide variantPathogenicrs397514481GRCh37Chr 20, 9389727: 9389727
8PLCB4NM_001172646.1(PLCB4): c.1897C> T (p.Arg633Cys)single nucleotide variantPathogenicrs397514482GRCh37Chr 20, 9389726: 9389726
9PLCB4NM_001172646.1(PLCB4): c.1984A> C (p.Asn662His)single nucleotide variantPathogenicrs397514483GRCh37Chr 20, 9389813: 9389813
10PRRX1NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs)deletionPathogenicrs398122375GRCh37Chr 1, 170688894: 170688894
11PRRX1NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs)duplicationPathogenicrs398122376GRCh37Chr 1, 170688891: 170688894
12GNAI3NM_006496.3(GNAI3): c.141C> A (p.Ser47Arg)single nucleotide variantPathogenicrs397514768GRCh37Chr 1, 110116381: 110116381
13PLCB4NM_001172646.1(PLCB4): c.1898G> T (p.Arg633Leu)single nucleotide variantPathogenicrs397514481GRCh37Chr 20, 9389727: 9389727
14PLCB4NM_001172646.1(PLCB4): c.1073A> T (p.Glu358Val)single nucleotide variantPathogenicrs397514769GRCh37Chr 20, 9368118: 9368118
15PLCB4NM_001172646.1(PLCB4): c.1078G> A (p.Asp360Asn)single nucleotide variantPathogenicrs397514770GRCh37Chr 20, 9368123: 9368123
16PLCB4NM_001172646.1(PLCB4): c.1079A> T (p.Asp360Val)single nucleotide variantPathogenicrs397514771GRCh37Chr 20, 9368124: 9368124
17PLCB4NC_000020.11: g.9407635_9412631del4997deletionPathogenicGRCh37Chr 20, 9388282: 9393278

Expression for genes affiliated with Auriculo-Condylar Syndrome

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Search GEO for disease gene expression data for Auriculo-Condylar Syndrome.

Pathways for genes affiliated with Auriculo-Condylar Syndrome

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Pathways related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4PLCB4, EDN1
2
Show member pathways
9.1PLCB4, GNAI3
3
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
9.1PLCB4, GNAI3
49.1GNAI3, PLCB4
59.1GNAI3, PLCB4
6
Show member pathways
9.1GNAI3, PLCB4
7
Show member pathways
9.1PLCB4, GNAI3
8
Show member pathways
9.1PLCB4, GNAI3
9
Show member pathways
9.1PLCB4, GNAI3
10
Show member pathways
9.1PLCB4, GNAI3
11
Show member pathways
9.1PLCB4, GNAI3
12
Show member pathways
9.1GNAI3, PLCB4
13
Show member pathways
9.1PLCB4, GNAI3
14
Show member pathways
9.1GNAI3, PLCB4
15
Show member pathways
9.1PLCB4, GNAI3
16
Show member pathways
G protein signaling G Protein alpha 12 signaling pathway58
9.1PLCB4, GNAI3
179.1PLCB4, GNAI3
189.1PLCB4, GNAI3
199.1PLCB4, GNAI3
20
Show member pathways
Development A1 receptor signaling58
G protein signaling G Protein alpha q signaling cascades58
9.1GNAI3, PLCB4
219.1PLCB4, GNAI3
22
Show member pathways
9.1PLCB4, GNAI3
239.1PLCB4, GNAI3
24
Show member pathways
9.1GNAI3, PLCB4
25
Show member pathways
9.1PLCB4, GNAI3
26
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
8.6EDN1, GNAI3, PLCB4
27
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.6PLCB4, GNAI3, EDN1
28
Show member pathways
8.6PLCB4, GNAI3, EDN1
29
Show member pathways
8.6PLCB4, GNAI3, EDN1
30
Show member pathways
8.6PLCB4, GNAI3, EDN1
31
Show member pathways
8.6EDN1, GNAI3, PLCB4

Compounds for genes affiliated with Auriculo-Condylar Syndrome

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Compounds related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1inositol 1,4,5 trisphosphate439.5PLCB4, EDN1
2pd 98,059439.4PLCB4, EDN1
3arachidonic acid43 28 24 1212.4PLCB4, EDN1
4phosphoinositide439.3EDN1, PLCB4
5genistein43 28 59 2 24 1214.1PLCB4, EDN1

GO Terms for genes affiliated with Auriculo-Condylar Syndrome

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Biological processes related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:00512169.3PRRX1, EDN1
2middle ear morphogenesisGO:00424749.0PRRX1, EDN1

Molecular functions related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.1PLCB4, GNAI3

Products for genes affiliated with Auriculo-Condylar Syndrome

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Sources for Auriculo-Condylar Syndrome

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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