MCID: ARC008
MIFTS: 18

Auriculo-Condylar Syndrome malady

Rare diseases, Ear diseases categories
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Summaries for Auriculo-Condylar Syndrome

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Genetics Home Reference:21 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 dysgnathia complex and auriculocondylar syndrome 2. An important gene associated with Auriculo-Condylar Syndrome is PRRX1 (paired related homeobox 1).

Aliases & Classifications for Auriculo-Condylar Syndrome

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Auriculo-Condylar Syndrome, Aliases & Descriptions:

Name: Auriculo-Condylar Syndrome 42 21 62
Auriculocondylar Syndrome 42 22 21
Question-Mark Ear Syndrome 21 62
 
Dysgnathia Complex 21 62
Ears Prominent and Constricted 42
Question Mark Ear 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Ear diseases


Related Diseases for Auriculo-Condylar Syndrome

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Diseases related to Auriculo-Condylar Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dysgnathia complex10.7
2auriculocondylar syndrome 210.6
3auriculocondylar syndrome 110.6
4auriculocondylar syndrome 310.4
5question mark ears, isolated10.4
6cholesteatoma10.3
7microtia10.3
8hypotonia10.3
9holoprosencephaly10.2

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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Drug clinical trials:

Search ClinicalTrials for Auriculo-Condylar Syndrome

Search 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 Syndrome22

Anatomical Context for Auriculo-Condylar Syndrome

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Animal Models for Auriculo-Condylar Syndrome or affiliated genes

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Publications for Auriculo-Condylar Syndrome

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Articles related to Auriculo-Condylar Syndrome:

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

6
id Gene Name Type Significance SNP ID Assembly Location
1PRRX1NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser)single nucleotide variantPathogenicrs387906667GRCh37Chr 1, 170688963: 170688963
2PRRX1NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs)deletionPathogenicrs398122375GRCh37Chr 1, 170688894: 170688894
3PRRX1NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs)duplicationPathogenicrs398122376GRCh37Chr 1, 170688891: 170688894

Expression for genes affiliated with Auriculo-Condylar Syndrome

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Expression patterns in normal tissues for genes affiliated with Auriculo-Condylar Syndrome

Search GEO for disease gene expression data for Auriculo-Condylar Syndrome.

Pathways for genes affiliated with Auriculo-Condylar Syndrome

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Compounds for genes affiliated with Auriculo-Condylar Syndrome

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GO Terms for genes affiliated with Auriculo-Condylar Syndrome

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Products for genes affiliated with Auriculo-Condylar Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Auriculo-Condylar Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet