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:
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. 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, liver and prostate, 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1auriculocondylar syndrome 132.0GNAI3, PLCB4
2question mark ears, isolated12.9
3auriculocondylar syndrome 212.6
4dysgnathia complex11.7
5breast cancer10.5
6otitis media10.5
7osteoarthritis10.5
8sarcoma10.5
9typhus10.5
10trigeminal neuralgia10.5
11scrub typhus10.5
12gingival overgrowth10.5
13gingivitis10.5
14middle ear disease10.5
15actinic prurigo10.5
16auriculoosteodysplasia9.2EDN1, GNAI3, PLCB4
17vulvovaginal candidiasis9.1EDN1, 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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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, 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 12)
idTitleAuthorsYear
1
Drugs for attention deficit-hyperactivity disorder do not increase the mid-term risk of sudden death in children: a meta-analysis of observational studies. (23669111)
2013
2
ANT2 suppression by shRNA may be able to exert anticancer effects in HCC further by restoring SOCS1 expression. (23242177)
2013
3
Bilateral adrenal lymphoma with Addison's disease : a surgical pitfall. (17515276)
2007
4
Pterygium excision with conjunctival autograft: consultant versus trainee. (17539811)
2007
5
Galactosamine prevents ethinylestradiol-induced cholestasis. (16554370)
2006
6
Decreased expressions of hepsin in human hepatocellular carcinomas. (16911458)
2006
7
Activation of p300 histone acetyltransferase activity and acetylation of the androgen receptor by bombesin in prostate cancer cells. (16434977)
2006
8
CYP2D6 is involved in O-demethylation of diltiazem. An in vitro study with transfected human liver cells. (11151747)
2000
9
Inhibition of IgE-dependent histamine release from human peripheral blood basophils by humanized Fab fragments that recognize the membrane proximal domain of the human Fc epsilon RI alpha-chain. (11146388)
2000
10
The role of tumor necrosis factor in host defense against scrub typhus rickettsiae. I. Inhibition of growth of Rickettsia tsutsugamushi, Karp strain, in cultured murine embryonic cells and macrophages by recombinant tumor necrosis factor-alpha. (7854211)
1994
11
Leukocyte adhesion deficiency (LAD) II: a new adhesion defect due to absence of sialyl Lewis X, the ligand for selectins. (7513226)
1993
12
The complexity of the Rab and Rho GTP-binding protein subfamilies revealed by a PCR cloning approach. (1555775)
1992

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