MCID: ARC008
MIFTS: 30

Auriculo-Condylar Syndrome malady

Categories: Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Auriculo-Condylar Syndrome

Aliases & Descriptions for Auriculo-Condylar Syndrome:

Name: Auriculo-Condylar Syndrome 50 25 69
Auriculocondylar Syndrome 50 25 56 29
Dysgnathia Complex 25 69
Ears Prominent and Constricted 50
Question-Mark Ear Syndrome 25
Question Mark Ear Syndrome 56
Question Mark Ear 50

Characteristics:

Orphanet epidemiological data:

56
auriculocondylar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA137888
UMLS via Orphanet 70 C1865295
ICD10 via Orphanet 34 Q75.8
MESH via Orphanet 43 C538270

Summaries for Auriculo-Condylar Syndrome

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 question mark ears, isolated and auriculocondylar syndrome 2, and has symptoms including snoring An important gene associated with Auriculo-Condylar Syndrome is EDN1 (Endothelin 1), and among its related pathways/superpathways are Development Angiotensin activation of ERK and NFAT and Cardiac Hypertrophy. Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and skeleton

Related Diseases for Auriculo-Condylar Syndrome

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

id Related Disease Score Top Affiliating Genes
1 question mark ears, isolated 12.5
2 auriculocondylar syndrome 2 12.2
3 auriculocondylar syndrome 1 11.1
4 dysgnathia complex 11.1
5 cholesteatoma 10.0
6 microtia 10.0
7 hypotonia 10.0
8 macular degeneration, age-related, 1 9.8 PLCB4 PRRX1
9 achromatopsia-4 9.5 GNAI3 PLCB4 PRRX1
10 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 9.4 EDN1 GNAI3 PLCB4 PRRX1

Graphical network of the top 20 diseases related to Auriculo-Condylar Syndrome:



Diseases related to Auriculo-Condylar Syndrome

Symptoms & Phenotypes for Auriculo-Condylar Syndrome

UMLS symptoms related to Auriculo-Condylar Syndrome:


snoring

GenomeRNAi Phenotypes related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.32 PLCB4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.32 PLCB4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.32 EDN1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.32 EDN1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.32 PLCB4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.32 PLCB4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.32 EDN1 PLCB4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.32 PLCB4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.32 EDN1

MGI Mouse Phenotypes related to Auriculo-Condylar Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 EDN1 GNAI3 PLCB4 PRRX1

Drugs & Therapeutics for Auriculo-Condylar Syndrome

Search Clinical Trials , NIH Clinical Center for Auriculo-Condylar Syndrome

Genetic Tests for Auriculo-Condylar Syndrome

Genetic tests related to Auriculo-Condylar Syndrome:

id Genetic test Affiliating Genes
1 Auriculocondylar Syndrome 29

Anatomical Context for Auriculo-Condylar Syndrome

MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

39
Bone

Publications for Auriculo-Condylar Syndrome

Articles related to Auriculo-Condylar Syndrome:

(show all 14)
id Title Authors Year
1
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. ( 27007857 )
2016
2
Science Signaling Podcast for 12 April 2016: G proteins in auriculo-condylar syndrome. ( 27072654 )
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
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. ( 16114046 )
2005
10
The correction of auricular and mandibular deformities in auriculo-condylar syndrome. ( 15915123 )
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

ClinVar genetic disease variations for Auriculo-Condylar Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRRX1 NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 GRCh37 Chromosome 1, 170688963: 170688963
2 PRRX1 PRRX1, ALA231PRO single nucleotide variant Pathogenic
3 PRRX1 NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh37 Chromosome 1, 170688894: 170688894
4 PRRX1 NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs) duplication Pathogenic rs398122376 GRCh37 Chromosome 1, 170688891: 170688894

Expression for Auriculo-Condylar Syndrome

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

Pathways for Auriculo-Condylar Syndrome

Pathways related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 EDN1 GNAI3 PLCB4
2
Show member pathways
12.28 EDN1 GNAI3 PLCB4
3
Show member pathways
12.12 EDN1 GNAI3 PLCB4
4 11.92 GNAI3 PLCB4
5
Show member pathways
11.89 GNAI3 PLCB4
6
Show member pathways
11.75 GNAI3 PLCB4
7 11.66 GNAI3 PLCB4
8 11.6 GNAI3 PLCB4
9 11.57 GNAI3 PLCB4
10
Show member pathways
11.51 GNAI3 PLCB4
11 11.51 GNAI3 PLCB4
12 11.43 EDN1 PLCB4
13
Show member pathways
11.15 EDN1 GNAI3 PLCB4
14 11.13 GNAI3 PLCB4
15 10.93 GNAI3 PLCB4
16 10.84 GNAI3 PLCB4
17 10.4 GNAI3 PLCB4

GO Terms for Auriculo-Condylar Syndrome

Biological processes related to Auriculo-Condylar Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 8.96 EDN1 PRRX1
2 middle ear morphogenesis GO:0042474 8.62 EDN1 PRRX1

Sources for Auriculo-Condylar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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