MCID: ARC008
MIFTS: 26

Auriculo-Condylar Syndrome malady

Rare diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Auriculo-Condylar Syndrome

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 65UMLS, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Auriculo-Condylar Syndrome:

Name: Auriculo-Condylar Syndrome 45 23 65
Auriculocondylar Syndrome 45 23 51 24
Dysgnathia Complex 23 65
Ears Prominent and Constricted 45
 
Question Mark Ear Syndrome 51
Question-Mark Ear Syndrome 23
Question Mark Ear 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
auriculocondylar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 137888
ICD10 via Orphanet28 Q75.8
MESH via Orphanet37 C538270
UMLS via Orphanet66 C1865295

Summaries for Auriculo-Condylar Syndrome

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Genetics Home Reference:23 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 agnathia-otocephaly complex. An important gene associated with Auriculo-Condylar Syndrome is PLCB4 (Phospholipase C, Beta 4), and among its related pathways are Platelet activation and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include bone, and related mouse phenotype skeleton.

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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1auriculocondylar syndrome 130.3GNAI3, PLCB4
2agnathia-otocephaly complex30.2PLCB4, PRRX1
3dysgnathia complex10.7
4auriculocondylar syndrome 210.7
5question mark ears, isolated10.6
6auriculocondylar syndrome 310.6
7cholesteatoma10.3
8microtia10.3
9hypotonia10.3
10holoprosencephaly10.2
11acute perichondritis of pinna9.9GNAI3, PLCB4
12auriculoosteodysplasia9.3EDN1, GNAI3, PLCB4, PRRX1

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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome24

Anatomical Context for Auriculo-Condylar Syndrome

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MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

33
Bone

Animal Models for Auriculo-Condylar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Auriculo-Condylar Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0EDN1, GNAI3, PLCB4, PRRX1

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:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1EDN1NM_001955.4(EDN1): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicrs587777231GRCh37Chr 6, 12294211: 12294211
2EDN1NM_001955.4(EDN1): c.230C> A (p.Pro77His)single nucleotide variantPathogenicrs587777232GRCh37Chr 6, 12292739: 12292739
3EDN1NM_001955.4(EDN1): c.191T> A (p.Val64Asp)single nucleotide variantPathogenicrs587777233GRCh37Chr 6, 12292700: 12292700
4EDN1NM_001955.4(EDN1): c.249T> G (p.Tyr83Ter)single nucleotide variantPathogenicrs587777234GRCh37Chr 6, 12294189: 12294189
5PLCB4NM_000933.3(PLCB4): c.986A> C (p.Asn329Thr)single nucleotide variantPathogenicrs387907179GRCh37Chr 20, 9364980: 9364980
6PRRX1NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser)single nucleotide variantPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
7PRRX1PRRX1, ALA231PROsingle nucleotide variantPathogenic
8GNAI3NM_006496.3(GNAI3): c.118G> C (p.Gly40Arg)single nucleotide variantPathogenicrs387907178GRCh37Chr 1, 110091460: 110091460
9PLCB4NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys)single nucleotide variantPathogenicrs397514480GRCh37Chr 20, 9389733: 9389733
10PLCB4NM_001172646.1(PLCB4): c.986A> G (p.Asn329Ser)single nucleotide variantPathogenicrs387907179GRCh37Chr 20, 9364980: 9364980
11PLCB4NM_000933.3(PLCB4): c.1862G> A (p.Arg621His)single nucleotide variantPathogenicrs397514481GRCh37Chr 20, 9389727: 9389727
12PLCB4NM_000933.3(PLCB4): c.1861C> T (p.Arg621Cys)single nucleotide variantPathogenicrs397514482GRCh37Chr 20, 9389726: 9389726
13PLCB4NM_000933.3(PLCB4): c.1948A> C (p.Asn650His)single nucleotide variantPathogenicrs397514483GRCh37Chr 20, 9389813: 9389813
14PRRX1NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs)deletionPathogenicrs398122375GRCh37Chr 1, 170688894: 170688894
15PRRX1NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs)duplicationPathogenicrs398122376GRCh37Chr 1, 170688891: 170688894
16GNAI3NM_006496.3(GNAI3): c.141C> A (p.Ser47Arg)single nucleotide variantPathogenicrs397514768GRCh37Chr 1, 110116381: 110116381
17PLCB4NM_001172646.1(PLCB4): c.1898G> T (p.Arg633Leu)single nucleotide variantPathogenicrs397514481GRCh37Chr 20, 9389727: 9389727
18PLCB4NM_001172646.1(PLCB4): c.1073A> T (p.Glu358Val)single nucleotide variantPathogenicrs397514769GRCh37Chr 20, 9368118: 9368118
19PLCB4NM_001172646.1(PLCB4): c.1078G> A (p.Asp360Asn)single nucleotide variantPathogenicrs397514770GRCh37Chr 20, 9368123: 9368123
20PLCB4NM_001172646.1(PLCB4): c.1079A> T (p.Asp360Val)single nucleotide variantPathogenicrs397514771GRCh37Chr 20, 9368124: 9368124
21PLCB4NG_032790.1: g.343582_348578del4997deletionPathogenicGRCh37Chr 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 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3GNAI3, PLCB4
2
Show member pathways
9.3GNAI3, PLCB4
39.3GNAI3, PLCB4
4
Show member pathways
9.3GNAI3, PLCB4
5
Show member pathways
9.3GNAI3, PLCB4
69.3GNAI3, PLCB4
7
Show member pathways
9.3GNAI3, PLCB4
89.3GNAI3, PLCB4
99.3GNAI3, PLCB4
109.3GNAI3, PLCB4
119.3GNAI3, PLCB4
129.3GNAI3, PLCB4
13
Show member pathways
8.5EDN1, GNAI3, PLCB4
14
Show member pathways
8.5EDN1, GNAI3, PLCB4
15
Show member pathways
8.5EDN1, GNAI3, PLCB4
16
Show member pathways
8.5EDN1, GNAI3, PLCB4

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
1middle ear morphogenesisGO:00424749.4EDN1, PRRX1
2cartilage developmentGO:00512169.1EDN1, PRRX1

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

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.3GNAI3, PLCB4

Sources for Auriculo-Condylar Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet