MCID: ARC008
MIFTS: 34

Auriculo-Condylar Syndrome

Categories: Rare diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Auriculo-Condylar Syndrome

MalaCards integrated aliases for Auriculo-Condylar Syndrome:

Name: Auriculo-Condylar Syndrome 49 24 69
Auriculocondylar Syndrome 49 24 55 36 28
Dysgnathia Complex 24 69
Ears Prominent and Constricted 49
Question-Mark Ear Syndrome 24
Question Mark Ear Syndrome 55
Question Mark Ear 49

Characteristics:

Orphanet epidemiological data:

55
auriculocondylar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA137888
MESH via Orphanet 42 C538270
UMLS via Orphanet 70 C1865295
ICD10 via Orphanet 33 Q75.8
KEGG 36 H01884

Summaries for Auriculo-Condylar Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137888Disease definitionAuriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.EpidemiologySo far, ACS has been reported in six multigenerational families.EtiologyThis condition can be classified as a disease of the first and second embryonic pharyngeal arches and is characterized by significant intra- and interfamilial phenotypic variation.Genetic counselingIt is transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources. Last updated: 3/11/2009

MalaCards based summary : Auriculo-Condylar Syndrome, also known as auriculocondylar syndrome, is related to auriculocondylar syndrome 1 and auriculocondylar syndrome 2, and has symptoms including snoring and apnea. An important gene associated with Auriculo-Condylar Syndrome is PRRX1 (Paired Related Homeobox 1), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Development Endothelin-1/EDNRA signaling. Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 24 Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).

Related Diseases for Auriculo-Condylar Syndrome

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 auriculocondylar syndrome 1 30.7 GNAI3 PLCB4 PRRX1
2 auriculocondylar syndrome 2 12.3
3 auriculocondylar syndrome 3 12.3
4 question mark ears, isolated 11.3
5 dysgnathia complex 11.3
6 cholesteatoma 10.1
7 hypotonia 10.1
8 microtia 10.1
9 agnathia-otocephaly complex 9.7 PLCB4 PRRX1
10 ankylosis 9.4 GNAI3 PLCB4
11 ear malformation 9.2 EDN1 GNAI3 PLCB4

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, apnea

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

25
# 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:

43
# 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:

# Genetic test Affiliating Genes
1 Auriculocondylar Syndrome 28

Anatomical Context for Auriculo-Condylar Syndrome

MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

38
Bone

Publications for Auriculo-Condylar Syndrome

Articles related to Auriculo-Condylar Syndrome:

(show all 14)
# Title Authors Year
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. Confronting a diagnostic challenge. ( 22105959 )
2012
5
Auriculo-condylar syndrome. ( 22050072 )
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: additional patients. ( 12244558 )
2002
12
Auriculo-condylar syndrome or new syndrome? ( 12002148 )
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
# 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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 EDN1 GNAI3 PLCB4
2
Show member pathways
12.08 EDN1 GNAI3 PLCB4
3
Show member pathways
11.95 EDN1 GNAI3 PLCB4
4 11.94 GNAI3 PLCB4
5
Show member pathways
11.9 GNAI3 PLCB4
6
Show member pathways
11.87 EDN1 GNAI3 PLCB4
7
Show member pathways
11.78 GNAI3 PLCB4
8 11.68 GNAI3 PLCB4
9 11.63 GNAI3 PLCB4
10 11.6 GNAI3 PLCB4
11 11.55 GNAI3 PLCB4
12 11.54 GNAI3 PLCB4
13 11.47 EDN1 PLCB4
14 11.4 GNAI3 PLCB4
15 11.25 GNAI3 PLCB4
16 11.18 GNAI3 PLCB4
17
Show member pathways
11.16 EDN1 GNAI3 PLCB4
18 10.87 GNAI3 PLCB4
19 10.6 GNAI3 PLCB4

GO Terms for Auriculo-Condylar Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.43 EDN1 GNAI3 PLCB4
2 cartilage development GO:0051216 9.16 EDN1 PRRX1
3 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway GO:0007193 8.96 EDN1 GNAI3
4 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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