MCID: ARC008
MIFTS: 30

Auriculo-Condylar Syndrome malady

Categories: Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Auriculo-Condylar Syndrome

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Sources:
25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Auriculo-Condylar Syndrome:

Name: Auriculo-Condylar Syndrome 48 25 68
Auriculocondylar Syndrome 48 25 54 27
Dysgnathia Complex 25 68
Ears Prominent and Constricted 48
 
Question Mark Ear Syndrome 54
Question-Mark Ear Syndrome 25
Question Mark Ear 48

Characteristics:

Orphanet epidemiological data:

54
auriculocondylar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA137888
UMLS via Orphanet69 C1865295
ICD10 via Orphanet31 Q75.8
MESH via Orphanet40 C538270

Summaries for Auriculo-Condylar Syndrome

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Genetics Home Reference:25 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 question mark ears, isolated and auriculocondylar syndrome 2, and has symptoms including snoring An important gene associated with Auriculo-Condylar Syndrome is EDN1 (Endothelin 1), and among its related pathways are AGE-RAGE signaling pathway in diabetic complications and Platelet activation. Affiliated tissues include bone, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and 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
1question mark ears, isolated12.5
2auriculocondylar syndrome 212.2
3auriculocondylar syndrome 111.1
4dysgnathia complex11.1
5cholesteatoma10.0
6microtia10.0
7hypotonia10.0
8macular degeneration, age-related, 19.8PLCB4, PRRX1
9achromatopsia-49.5GNAI3, PLCB4, PRRX1
10autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency9.4EDN1, GNAI3, PLCB4, PRRX1

Graphical network of diseases related to Auriculo-Condylar Syndrome:



Diseases related to auriculo-condylar syndrome

Symptoms & Phenotypes for Auriculo-Condylar Syndrome

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UMLS symptoms related to Auriculo-Condylar Syndrome:


snoring

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.9EDN1, PLCB4

MGI Mouse Phenotypes related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0EDN1, GNAI3, PLCB4, PRRX1

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 Syndrome27

Anatomical Context for Auriculo-Condylar Syndrome

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MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

36
Bone

Publications for Auriculo-Condylar Syndrome

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Articles related to Auriculo-Condylar Syndrome:

(show all 14)
idTitleAuthorsYear
1
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. (27007857)
2016
2
Science Signaling Podcast for 12 April 2016: G proteins in auriculo-condylar syndrome. (27072654)
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
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. (16114046)
2005
10
The correction of auricular and mandibular deformities in auriculo-condylar syndrome. (15915123)
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 17)
idSuper pathwaysScoreTop Affiliating Genes
19.1EDN1, PLCB4
29.0GNAI3, PLCB4
39.0GNAI3, PLCB4
49.0GNAI3, PLCB4
5
Show member pathways
9.0GNAI3, PLCB4
69.0GNAI3, PLCB4
7
Show member pathways
9.0GNAI3, PLCB4
8
Show member pathways
9.0GNAI3, PLCB4
99.0GNAI3, PLCB4
109.0GNAI3, PLCB4
119.0GNAI3, PLCB4
129.0GNAI3, PLCB4
139.0GNAI3, 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
17
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
1cartilage developmentGO:00512169.8EDN1, PRRX1
2middle ear morphogenesisGO:00424749.4EDN1, PRRX1

Sources for Auriculo-Condylar Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet