MCID: ARC008
MIFTS: 31

Auriculo-Condylar Syndrome malady

Categories: Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Auriculo-Condylar Syndrome

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Sources:
46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 25GTR, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Auriculo-Condylar Syndrome:

Name: Auriculo-Condylar Syndrome 46 24 66
Auriculocondylar Syndrome 46 24 52 25
Dysgnathia Complex 24 66
Ears Prominent and Constricted 46
 
Question-Mark Ear Syndrome 24
Question Mark Ear Syndrome 52
Question Mark Ear 46

Characteristics:

Orphanet epidemiological data:

52
auriculocondylar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA137888
UMLS via Orphanet67 C1865295
ICD10 via Orphanet29 Q75.8
MESH via Orphanet38 C538270

Summaries for Auriculo-Condylar Syndrome

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Genetics Home Reference:24 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 snoring and respiratory distress. 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 Dopamine-DARPP32 Feedback onto cAMP Pathway. 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:

idRelated DiseaseScoreTop Affiliating Genes
1auriculocondylar syndrome 130.6GNAI3, PLCB4
2question mark ears, isolated12.5
3auriculocondylar syndrome 212.2
4dysgnathia complex11.3
5cholesteatoma10.1
6microtia10.1
7hypotonia10.1
8vulvovaginitis9.4GNAI3, PLCB4
9autism with port-wine stain8.8EDN1, 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:


snoring, respiratory distress

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 Syndrome25

Anatomical Context for Auriculo-Condylar Syndrome

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MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

34
Bone

Animal Models for Auriculo-Condylar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Auriculo-Condylar Syndrome:

39
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
29.0GNAI3, PLCB4
3
Show member pathways
9.0GNAI3, PLCB4
4
Show member pathways
9.0GNAI3, PLCB4
5
Show member pathways
9.0GNAI3, PLCB4
6
Show member pathways
9.0GNAI3, PLCB4
7
Show member pathways
9.0GNAI3, PLCB4
89.0GNAI3, 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
17
Show member pathways
8.5EDN1, GNAI3, 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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Molecular functions related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.0GNAI3, PLCB4

Sources for Auriculo-Condylar Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet