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:
25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Auriculo-Condylar Syndrome:

Name: Auriculo-Condylar Syndrome 47 25 67
Auriculocondylar Syndrome 47 25 53 26
Dysgnathia Complex 25 67
Ears Prominent and Constricted 47
 
Question Mark Ear Syndrome 53
Question-Mark Ear Syndrome 25
Question Mark Ear 47

Characteristics:

Orphanet epidemiological data:

53
auriculocondylar syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA137888
UMLS via Orphanet68 C1865295
ICD10 via Orphanet30 Q75.8
MESH via Orphanet39 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 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 PRRX1 (Paired Related Homeobox 1), and among its related pathways are Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and Visual Cycle in Retinal Rods. 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 131.2GNAI3, PLCB4
2question mark ears, isolated12.5
3auriculocondylar syndrome 212.2
4dysgnathia complex11.1
5cholesteatoma10.0
6microtia10.0
7hypotonia10.0
8vulvovaginitis9.7GNAI3, PLCB4
9agnathia-otocephaly complex9.5PLCB4, PRRX1
10autism with port-wine stain9.0EDN1, 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 Syndrome26

Anatomical Context for Auriculo-Condylar Syndrome

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MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

35
Bone

Animal Models for Auriculo-Condylar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Auriculo-Condylar Syndrome:

40
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 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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Clinvar genetic disease variations for Auriculo-Condylar Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRRX1NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser)SNVPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
2PRRX1PRRX1, ALA231PROSNVPathogenicChr na, -1: -1
3PRRX1NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs)deletionPathogenicrs398122375GRCh37Chr 1, 170688894: 170688894
4PRRX1NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs)duplicationPathogenicrs398122376GRCh37Chr 1, 170688891: 170688894

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 14)
idSuper pathwaysScoreTop Affiliating Genes
19.3GNAI3, PLCB4
29.3GNAI3, PLCB4
39.3GNAI3, PLCB4
49.3GNAI3, PLCB4
5
Show member pathways
9.3GNAI3, PLCB4
69.3GNAI3, PLCB4
79.3GNAI3, PLCB4
89.3GNAI3, PLCB4
9
Show member pathways
9.3GNAI3, PLCB4
109.3GNAI3, PLCB4
119.0EDN1, PLCB4
12
Show member pathways
8.5EDN1, GNAI3, PLCB4
13
Show member pathways
8.5EDN1, GNAI3, PLCB4
14
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:00424749.5EDN1, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet