MCID: ARC008
MIFTS: 32

Auriculo-Condylar Syndrome malady

Categories: Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Auriculo-Condylar Syndrome

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 137888
UMLS via Orphanet66 C1865295
ICD10 via Orphanet28 Q75.8
MESH via Orphanet37 C538270
UMLS65 C1865295, C1876185

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 question mark ears, isolated, and has symptoms including respiratory distressand snoring. An important gene associated with Auriculo-Condylar Syndrome is PLCB4 (Phospholipase C Beta 4), and among its related pathways are AGE-RAGE signaling pathway in diabetic complications and Development A3 receptor signaling. Affiliated tissues include bone, breast and liver, 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:

idRelated DiseaseScoreTop Affiliating Genes
1auriculocondylar syndrome 131.1GNAI3, PLCB4
2question mark ears, isolated12.5
3auriculocondylar syndrome 212.2
4dysgnathia complex11.3
5cholesteatoma10.1
6microtia10.1
7hypotonia10.1
8auriculoosteodysplasia8.8EDN1, GNAI3, PLCB4
9vulvovaginal candidiasis8.7EDN1, GNAI3, PLCB4

Graphical network of diseases related to Auriculo-Condylar Syndrome:



Diseases related to auriculo-condylar syndrome

Symptoms for Auriculo-Condylar Syndrome

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UMLS symptoms related to Auriculo-Condylar Syndrome:


respiratory distress, snoring

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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Anatomical Context for Auriculo-Condylar Syndrome

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MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

33
Bone, Breast, Liver, Prostate

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:00053908.6EDN1, GNAI3, PLCB4

Publications for Auriculo-Condylar Syndrome

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Articles related to Auriculo-Condylar Syndrome:

(show all 14)
idTitleAuthorsYear
1
Science Signaling Podcast for 12 April 2016: G proteins in auriculo-condylar syndrome. (27072654)
2016
2
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. (27007857)
2016
3
Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis. (22865651)
2013
4
Auriculo-condylar syndrome. (22050072)
2012
5
Auriculo-condylar syndrome. Confronting a diagnostic challenge. (22105959)
2012
6
Novel features in auriculo-condylar syndrome. (20733479)
2011
7
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. (18000524)
2008
8
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? (17159508)
2007
9
The correction of auricular and mandibular deformities in auriculo-condylar syndrome. (15915123)
2005
10
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. (16114046)
2005
11
Auriculo-condylar syndrome or new syndrome? (12002148)
2002
12
Auriculo-condylar syndrome: additional patients. (12244558)
2002
13
Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity? (11045585)
2000
14
Auriculo-condylar syndrome: further evidence for a new disorder. (10449647)
1999

Variations for Auriculo-Condylar Syndrome

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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 21)
idSuper pathwaysScoreTop Affiliating Genes
19.3EDN1, PLCB4
2
Show member pathways
9.0GNAI3, PLCB4
3
Show member pathways
9.0GNAI3, PLCB4
49.0GNAI3, PLCB4
5
Show member pathways
9.0GNAI3, PLCB4
6
Show member pathways
9.0GNAI3, PLCB4
7
Show member pathways
9.0GNAI3, PLCB4
8
Show member pathways
9.0GNAI3, PLCB4
9
Show member pathways
9.0GNAI3, PLCB4
109.0GNAI3, PLCB4
119.0GNAI3, PLCB4
129.0GNAI3, PLCB4
139.0GNAI3, PLCB4
149.0GNAI3, PLCB4
159.0GNAI3, PLCB4
169.0GNAI3, PLCB4
179.0GNAI3, PLCB4
18
Show member pathways
8.5EDN1, GNAI3, PLCB4
19
Show member pathways
8.5EDN1, GNAI3, PLCB4
20
Show member pathways
8.5EDN1, GNAI3, PLCB4
21
Show member pathways
8.5EDN1, GNAI3, PLCB4

GO Terms for genes affiliated with Auriculo-Condylar Syndrome

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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