MCID: ARC008
MIFTS: 33

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 53 25 73
Auriculocondylar Syndrome 53 25 59 37 29 6
Dysgnathia Complex 25 73
Ears Prominent and Constricted 53
Question-Mark Ear Syndrome 25
Question Mark Ear Syndrome 59
Question Mark Ear 53

Characteristics:

Orphanet epidemiological data:

59
auriculocondylar syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA137888
UMLS via Orphanet 74 C1865295
ICD10 via Orphanet 34 Q75.8
MESH via Orphanet 45 C538270
KEGG 37 H01884

Summaries for Auriculo-Condylar Syndrome

NIH Rare Diseases : 53 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.

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 apnea and snoring. An important gene associated with Auriculo-Condylar Syndrome is PLCB4 (Phospholipase C Beta 4), and among its related pathways/superpathways are PEDF Induced Signaling and Circadian entrainment. Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 25 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:

# Related Disease Score Top Affiliating Genes
1 auriculocondylar syndrome 1 30.5 GNAI3 PLCB4
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 hypotonia 10.1
7 microtia 10.1
8 ankylosis 8.9 GNAI3 PLCB4
9 ear malformation 8.6 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:


apnea, snoring

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.8 EDN1 GNAI3 PLCB4

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 29

Anatomical Context for Auriculo-Condylar Syndrome

MalaCards organs/tissues related to Auriculo-Condylar Syndrome:

41
Bone

Publications for Auriculo-Condylar Syndrome

Articles related to Auriculo-Condylar Syndrome:

(show all 19)
# Title Authors Year
1
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. ( 28328130 )
2017
2
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. ( 27007857 )
2016
3
Science Signaling Podcast for 12 April 2016: G proteins in auriculo-condylar syndrome. ( 27072654 )
2016
4
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. ( 25026904 )
2015
5
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. ( 24268655 )
2013
6
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. ( 23913798 )
2013
7
Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis. ( 22865651 )
2013
8
Auriculo-condylar syndrome. ( 22050072 )
2012
9
Auriculo-condylar syndrome. Confronting a diagnostic challenge. ( 22105959 )
2012
10
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. ( 22560091 )
2012
11
Novel features in auriculo-condylar syndrome. ( 20733479 )
2011
12
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. ( 18000524 )
2008
13
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? ( 17159508 )
2007
14
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. ( 16114046 )
2005
15
The correction of auricular and mandibular deformities in auriculo-condylar syndrome. ( 15915123 )
2005
16
Auriculo-condylar syndrome or new syndrome? ( 12002148 )
2002
17
Auriculo-condylar syndrome: additional patients. ( 12244558 )
2002
18
Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity? ( 11045585 )
2000
19
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
(show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCB4 NM_000933.3(PLCB4): c.2118+8C> A single nucleotide variant Likely benign rs75492366 GRCh37 Chromosome 20, 9400564: 9400564
2 PLCB4 NM_000933.3(PLCB4): c.833A> T (p.Asp278Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147655952 GRCh37 Chromosome 20, 9360789: 9360789
3 PLCB4 NM_000933.3(PLCB4): c.833A> T (p.Asp278Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147655952 GRCh38 Chromosome 20, 9380142: 9380142
4 PLCB4 NM_000933.3(PLCB4): c.1364A> G (p.Lys455Arg) single nucleotide variant Likely benign rs142617224 GRCh38 Chromosome 20, 9393628: 9393628
5 PLCB4 NM_000933.3(PLCB4): c.1364A> G (p.Lys455Arg) single nucleotide variant Likely benign rs142617224 GRCh37 Chromosome 20, 9374275: 9374275
6 PLCB4 NM_000933.3(PLCB4): c.1428T> C (p.Ala476=) single nucleotide variant Likely benign rs140773788 GRCh38 Chromosome 20, 9395536: 9395536
7 PLCB4 NM_000933.3(PLCB4): c.1428T> C (p.Ala476=) single nucleotide variant Likely benign rs140773788 GRCh37 Chromosome 20, 9376183: 9376183
8 PLCB4 NM_000933.3(PLCB4): c.1713C> T (p.Tyr571=) single nucleotide variant Uncertain significance rs149835904 GRCh38 Chromosome 20, 9408018: 9408018
9 PLCB4 NM_000933.3(PLCB4): c.1713C> T (p.Tyr571=) single nucleotide variant Uncertain significance rs149835904 GRCh37 Chromosome 20, 9388665: 9388665
10 PLCB4 NM_000933.3(PLCB4): c.2118+8C> A single nucleotide variant Likely benign rs75492366 GRCh38 Chromosome 20, 9419917: 9419917
11 PLCB4 NM_000933.3(PLCB4): c.2364G> A (p.Pro788=) single nucleotide variant Benign rs16995899 GRCh38 Chromosome 20, 9423828: 9423828
12 PLCB4 NM_000933.3(PLCB4): c.2364G> A (p.Pro788=) single nucleotide variant Benign rs16995899 GRCh37 Chromosome 20, 9404475: 9404475
13 PLCB4 NM_000933.3(PLCB4): c.2530A> G (p.Ile844Val) single nucleotide variant Uncertain significance rs151284195 GRCh38 Chromosome 20, 9435601: 9435601
14 PLCB4 NM_000933.3(PLCB4): c.2530A> G (p.Ile844Val) single nucleotide variant Uncertain significance rs151284195 GRCh37 Chromosome 20, 9416248: 9416248
15 PLCB4 NM_000933.3(PLCB4): c.*90A> T single nucleotide variant Likely benign rs554019512 GRCh37 Chromosome 20, 9459746: 9459746
16 PLCB4 NM_000933.3(PLCB4): c.*90A> T single nucleotide variant Likely benign rs554019512 GRCh38 Chromosome 20, 9479099: 9479099
17 PLCB4 NM_000933.3(PLCB4): c.*209A> C single nucleotide variant Likely benign rs576484180 GRCh37 Chromosome 20, 9459865: 9459865
18 PLCB4 NM_000933.3(PLCB4): c.*209A> C single nucleotide variant Likely benign rs576484180 GRCh38 Chromosome 20, 9479218: 9479218
19 PLCB4 NM_000933.3(PLCB4): c.*230G> C single nucleotide variant Likely benign rs149256309 GRCh37 Chromosome 20, 9459886: 9459886
20 PLCB4 NM_000933.3(PLCB4): c.*230G> C single nucleotide variant Likely benign rs149256309 GRCh38 Chromosome 20, 9479239: 9479239
21 PLCB4 NM_000933.3(PLCB4): c.*271A> G single nucleotide variant Benign rs2076392 GRCh37 Chromosome 20, 9459927: 9459927
22 PLCB4 NM_000933.3(PLCB4): c.*271A> G single nucleotide variant Benign rs2076392 GRCh38 Chromosome 20, 9479280: 9479280
23 PLCB4 NM_000933.3(PLCB4): c.*469G> T single nucleotide variant Uncertain significance rs886056986 GRCh37 Chromosome 20, 9460125: 9460125
24 PLCB4 NM_000933.3(PLCB4): c.*469G> T single nucleotide variant Uncertain significance rs886056986 GRCh38 Chromosome 20, 9479478: 9479478
25 PLCB4 NM_000933.3(PLCB4): c.*563delG deletion Likely benign rs148015873 GRCh38 Chromosome 20, 9479572: 9479572
26 PLCB4 NM_000933.3(PLCB4): c.*563delG deletion Likely benign rs148015873 GRCh37 Chromosome 20, 9460219: 9460219
27 PLCB4 NM_000933.3(PLCB4): c.*869G> T single nucleotide variant Uncertain significance rs886056987 GRCh38 Chromosome 20, 9479878: 9479878
28 PLCB4 NM_000933.3(PLCB4): c.*869G> T single nucleotide variant Uncertain significance rs886056987 GRCh37 Chromosome 20, 9460525: 9460525
29 PLCB4 NM_000933.3(PLCB4): c.*1003A> C single nucleotide variant Benign rs74772813 GRCh38 Chromosome 20, 9480012: 9480012
30 PLCB4 NM_000933.3(PLCB4): c.*1003A> C single nucleotide variant Benign rs74772813 GRCh37 Chromosome 20, 9460659: 9460659
31 PLCB4 NM_000933.3(PLCB4): c.*1202G> A single nucleotide variant Likely benign rs114009007 GRCh38 Chromosome 20, 9480211: 9480211
32 PLCB4 NM_000933.3(PLCB4): c.*1202G> A single nucleotide variant Likely benign rs114009007 GRCh37 Chromosome 20, 9460858: 9460858
33 PLCB4 NM_000933.3(PLCB4): c.*1487G> C single nucleotide variant Likely benign rs546587344 GRCh38 Chromosome 20, 9480496: 9480496
34 PLCB4 NM_000933.3(PLCB4): c.*1487G> C single nucleotide variant Likely benign rs546587344 GRCh37 Chromosome 20, 9461143: 9461143
35 PLCB4 NM_000933.3(PLCB4): c.*1731A> T single nucleotide variant Likely benign rs147197006 GRCh37 Chromosome 20, 9461387: 9461387
36 PLCB4 NM_000933.3(PLCB4): c.*1731A> T single nucleotide variant Likely benign rs147197006 GRCh38 Chromosome 20, 9480740: 9480740
37 PLCB4 NM_000933.3(PLCB4): c.226-8C> T single nucleotide variant Uncertain significance rs78678483 GRCh37 Chromosome 20, 9319533: 9319533
38 PLCB4 NM_000933.3(PLCB4): c.226-8C> T single nucleotide variant Uncertain significance rs78678483 GRCh38 Chromosome 20, 9338886: 9338886
39 PLCB4 NM_000933.3(PLCB4): c.462G> A (p.Leu154=) single nucleotide variant Likely benign rs142392531 GRCh37 Chromosome 20, 9346120: 9346120
40 PLCB4 NM_000933.3(PLCB4): c.462G> A (p.Leu154=) single nucleotide variant Likely benign rs142392531 GRCh38 Chromosome 20, 9365473: 9365473
41 PLCB4 NM_000933.3(PLCB4): c.854-12T> A single nucleotide variant Uncertain significance rs886056981 GRCh38 Chromosome 20, 9384189: 9384189
42 PLCB4 NM_000933.3(PLCB4): c.854-12T> A single nucleotide variant Uncertain significance rs886056981 GRCh37 Chromosome 20, 9364836: 9364836
43 PLCB4 NM_000933.3(PLCB4): c.1612-11T> G single nucleotide variant Uncertain significance rs886056982 GRCh38 Chromosome 20, 9407906: 9407906
44 PLCB4 NM_000933.3(PLCB4): c.1612-11T> G single nucleotide variant Uncertain significance rs886056982 GRCh37 Chromosome 20, 9388553: 9388553
45 PLCB4 NM_000933.3(PLCB4): c.1702A> G (p.Met568Val) single nucleotide variant Uncertain significance rs369233949 GRCh38 Chromosome 20, 9408007: 9408007
46 PLCB4 NM_000933.3(PLCB4): c.1702A> G (p.Met568Val) single nucleotide variant Uncertain significance rs369233949 GRCh37 Chromosome 20, 9388654: 9388654
47 PLCB4 NM_000933.3(PLCB4): c.2016-7C> T single nucleotide variant Likely benign rs185396159 GRCh38 Chromosome 20, 9419800: 9419800
48 PLCB4 NM_000933.3(PLCB4): c.2016-7C> T single nucleotide variant Likely benign rs185396159 GRCh37 Chromosome 20, 9400447: 9400447
49 PLCB4 NM_000933.3(PLCB4): c.2118+9C> G single nucleotide variant Likely benign rs199598049 GRCh38 Chromosome 20, 9419918: 9419918
50 PLCB4 NM_000933.3(PLCB4): c.2118+9C> G single nucleotide variant Likely benign rs199598049 GRCh37 Chromosome 20, 9400565: 9400565

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 EDN1 GNAI3 PLCB4
2
Show member pathways
12.45 EDN1 GNAI3 PLCB4
3
Show member pathways
12.41 EDN1 GNAI3 PLCB4
4
Show member pathways
12.37 EDN1 GNAI3 PLCB4
5
Show member pathways
12.21 GNAI3 PLCB4
6
Show member pathways
12.12 GNAI3 PLCB4
7
Show member pathways
12.1 GNAI3 PLCB4
8
Show member pathways
12.07 EDN1 GNAI3 PLCB4
9 11.95 GNAI3 PLCB4
10
Show member pathways
11.91 GNAI3 PLCB4
11
Show member pathways
11.79 GNAI3 PLCB4
12
Show member pathways
11.72 EDN1 GNAI3 PLCB4
13 11.69 GNAI3 PLCB4
14 11.64 GNAI3 PLCB4
15 11.61 GNAI3 PLCB4
16 11.56 GNAI3 PLCB4
17
Show member pathways
11.54 GNAI3 PLCB4
18 11.54 GNAI3 PLCB4
19 11.52 GNAI3 PLCB4
20 11.5 GNAI3 PLCB4
21 11.47 EDN1 PLCB4
22 11.4 GNAI3 PLCB4
23 11.13 GNAI3 PLCB4
24 11.03 GNAI3 PLCB4
25 10.07 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 9.13 EDN1 GNAI3 PLCB4
2 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway GO:0007193 8.62 EDN1 GNAI3

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

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity GO:0004871 8.62 GNAI3 PLCB4

Sources for Auriculo-Condylar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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