MCID: ARC008
MIFTS: 15

Auriculo-Condylar Syndrome malady

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

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Sources:
21Genetics Home Reference, 33MalaCards
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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: Auriculo-Condylar Syndrome, also known as auriculocondylar syndrome, is related to dysgnathia complex and auriculocondylar syndrome 2.

Aliases & Classifications for Auriculo-Condylar Syndrome

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Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 62UMLS
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Classifications:

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


Aliases & Descriptions:

auriculo-condylar syndrome 43 21 62
auriculocondylar syndrome 43 22 21
dysgnathia complex 21 62
ears prominent and constricted 43
question-mark ear syndrome 21
question mark ear 43


Related Diseases for Auriculo-Condylar Syndrome

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17GeneCards, 18GeneDecks
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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 210.5
3auriculocondylar syndrome 110.5
4question mark ears, isolated10.4
5cholesteatoma10.3
6microtia10.3
7hypotonia10.3
8auriculocondylar syndrome 310.3
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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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Sources:
52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Auriculo-Condylar Syndrome:

1
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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15Gene Expression Omnibus DataSets
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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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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
  • Antibodies

Sources for Auriculo-Condylar Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet