ARCND1
MCID: ARC016
MIFTS: 38

Auriculocondylar Syndrome 1 (ARCND1)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Auriculocondylar Syndrome 1

MalaCards integrated aliases for Auriculocondylar Syndrome 1:

Name: Auriculocondylar Syndrome 1 57 72 29 13 6
Question Mark Ears Syndrome 57 72 6
Stomatognathic System Abnormalities 44 70
Dysgnathia Complex 72 70
Arcnd1 57 72
Auriculocondylar Syndrome, Type 1 39
Auriculo-Condylar Syndrome 70
Acs 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
congenital disorder
variable phenotype within families


HPO:

31
auriculocondylar syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Auriculocondylar Syndrome 1

UniProtKB/Swiss-Prot : 72 Auriculocondylar syndrome 1: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

MalaCards based summary : Auriculocondylar Syndrome 1, also known as question mark ears syndrome, is related to auriculo-condylar syndrome and ankylosis, and has symptoms including apnea and snoring. An important gene associated with Auriculocondylar Syndrome 1 is GNAI3 (G Protein Subunit Alpha I3), and among its related pathways/superpathways are G-Beta Gamma Signaling and fMLP Pathway. Related phenotypes are micrognathia and narrow mouth

OMIM® : 57 Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et al., 2008). (602483) (Updated 05-Apr-2021)

Related Diseases for Auriculocondylar Syndrome 1

Diseases in the Auriculocondylar Syndrome 1 family:

Auriculocondylar Syndrome 2 Auriculocondylar Syndrome 3

Diseases related to Auriculocondylar Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 auriculo-condylar syndrome 29.4 PLCB4 GNAI3
2 ankylosis 29.0 PLCB4 GNAI3
3 acrocallosal syndrome 11.5
4 dysgnathia complex 11.5
5 agnathia-otocephaly complex 11.5
6 saethre-chotzen syndrome 11.3
7 apert syndrome 11.2
8 pfeiffer syndrome 11.2
9 auriculocondylar syndrome 2 11.0
10 auriculocondylar syndrome 3 11.0
11 ischemia 10.7
12 intermediate coronary syndrome 10.6
13 myocardial infarction 10.6
14 urinary tract infection 10.4
15 thrombophilia due to thrombin defect 10.4
16 acute myocardial infarction 10.4
17 cardiogenic shock 10.4
18 compartment syndrome 10.4
19 toxic shock syndrome 10.3
20 pulmonary embolism 10.3
21 angina pectoris 10.3
22 cardiac arrest 10.3
23 atrial fibrillation 10.2
24 acute kidney failure 10.2
25 thrombosis 10.2
26 acute cystitis 10.2
27 appendicitis 10.2
28 influenza 10.2
29 body mass index quantitative trait locus 11 10.1
30 pulmonary disease, chronic obstructive 10.1
31 congestive heart failure 10.1
32 microphthalmia, syndromic 5 10.1
33 body mass index quantitative trait locus 9 10.1
34 body mass index quantitative trait locus 8 10.1
35 coronary heart disease 1 10.1
36 body mass index quantitative trait locus 4 10.1
37 body mass index quantitative trait locus 10 10.1
38 body mass index quantitative trait locus 7 10.1
39 body mass index quantitative trait locus 12 10.1
40 body mass index quantitative trait locus 14 10.1
41 body mass index quantitative trait locus 18 10.1
42 body mass index quantitative trait locus 19 10.1
43 arteries, anomalies of 10.1
44 hypercholesterolemia, familial, 1 10.1
45 body mass index quantitative trait locus 1 10.1
46 leptin deficiency or dysfunction 10.1
47 lipoprotein quantitative trait locus 10.1
48 heart disease 10.1
49 vascular disease 10.1
50 atherosclerosis susceptibility 10.0

Graphical network of the top 20 diseases related to Auriculocondylar Syndrome 1:



Diseases related to Auriculocondylar Syndrome 1

Symptoms & Phenotypes for Auriculocondylar Syndrome 1

Human phenotypes related to Auriculocondylar Syndrome 1:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 micrognathia 31 very rare (1%) HP:0000347
2 narrow mouth 31 very rare (1%) HP:0000160
3 glossoptosis 31 very rare (1%) HP:0000162
4 stenosis of the external auditory canal 31 very rare (1%) HP:0000402
5 macrocephaly 31 HP:0000256
6 dental malocclusion 31 HP:0000689
7 cleft palate 31 HP:0000175
8 low-set ears 31 HP:0000369
9 dental crowding 31 HP:0000678
10 preauricular skin tag 31 HP:0000384
11 apnea 31 HP:0002104
12 round face 31 HP:0000311
13 cupped ear 31 HP:0000378
14 posteriorly rotated ears 31 HP:0000358
15 impaired mastication 31 HP:0005216
16 hypoplastic superior helix 31 HP:0008559
17 overfolding of the superior helices 31 HP:0004453
18 speech articulation difficulties 31 HP:0009088
19 mandibular condyle hypoplasia 31 HP:0007628
20 ankylosis 31 HP:0031013
21 anterior open-bite malocclusion 31 HP:0009102
22 snoring 31 HP:0025267
23 mandibular condyle aplasia 31 HP:0007627
24 postauricular skin tag 31 HP:0004451
25 cleft at the superior portion of the pinna 31 HP:0008537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
speech articulation difficulties
microstomia (52%)
glossoptosis (46%)
abnormal palate (63%)
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears
overfolding of the superior helices
cleft at the superior portion of the pinna
malformed ears
more
Skeletal Skull:
short mandibular rami
mandibular condyle hypoplasia
mandibular condyle aplasia
mandibular agenesis
asymmetric mandible
more
Head And Neck Head:
macrocephaly (25%)

Head And Neck Face:
micrognathia
prominent cheeks
round facial appearance

Respiratory:
apnea
snoring
respiratory difficulties due to orofacial malformations (36%)

Head And Neck Teeth:
malocclusion
crowded teeth
open anterior bite
posterior crossbite

Clinical features from OMIM®:

602483 (Updated 05-Apr-2021)

UMLS symptoms related to Auriculocondylar Syndrome 1:


apnea; snoring

Drugs & Therapeutics for Auriculocondylar Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
2 The Interdependence of Body Posture and the Stomatognathic System of School-age Children in Structural and Functional Terms Not yet recruiting NCT04317131

Search NIH Clinical Center for Auriculocondylar Syndrome 1

Cochrane evidence based reviews: stomatognathic system abnormalities

Genetic Tests for Auriculocondylar Syndrome 1

Genetic tests related to Auriculocondylar Syndrome 1:

# Genetic test Affiliating Genes
1 Auriculocondylar Syndrome 1 29 GNAI3

Anatomical Context for Auriculocondylar Syndrome 1

Publications for Auriculocondylar Syndrome 1

Articles related to Auriculocondylar Syndrome 1:

(show all 14)
# Title Authors PMID Year
1
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 6 57
23315542 2013
2
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 6 57
22560091 2012
3
Transmission of the dysgnathia complex from mother to daughter. 57 6
11102934 2000
4
Novel features in auriculo-condylar syndrome. 57
20733479 2011
5
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. 57
18000524 2008
6
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? 57
17159508 2007
7
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. 57
16114046 2005
8
Auriculo-condylar syndrome: additional patients. 57
12244558 2002
9
Auriculo-condylar syndrome: further evidence for a new disorder. 57
10449647 1999
10
New syndrome? Prominent, constricted ears with malformed condyle of the mandible. 57
9489786 1998
11
Question mark ear: a method for repair. 57
9326789 1997
12
The question mark ear (congenital auricular cleft): a familial case. 57
2647020 1989
13
Combined bilateral external ear deformity and hypoplastic mandible. Case report. 57
694432 1978
14
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1. 61
33723370 2021

Variations for Auriculocondylar Syndrome 1

ClinVar genetic disease variations for Auriculocondylar Syndrome 1:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAI3 NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg) SNV Pathogenic 31636 rs387907178 GRCh37: 1:110091460-110091460
GRCh38: 1:109548838-109548838
2 GNAI3 NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg) SNV Pathogenic 64691 rs397514768 GRCh37: 1:110116381-110116381
GRCh38: 1:109573759-109573759
3 PLCB4 NM_000933.3(PLCB4):c.1861C>T (p.Arg621Cys) SNV Pathogenic 31640 rs397514482 GRCh37: 20:9389726-9389726
GRCh38: 20:9409079-9409079
4 PLCB4 NM_000933.3(PLCB4):c.986A>C (p.Asn329Thr) SNV Pathogenic 209128 rs387907179 GRCh37: 20:9364980-9364980
GRCh38: 20:9384333-9384333
5 PLCB4 NM_000933.3(PLCB4):c.1862G>A (p.Arg621His) SNV Pathogenic 31639 rs397514481 GRCh37: 20:9389727-9389727
GRCh38: 20:9409080-9409080
6 PLCB4 NM_000933.3(PLCB4):c.1868A>G (p.Tyr623Cys) SNV Pathogenic 31637 rs397514480 GRCh37: 20:9389733-9389733
GRCh38: 20:9409086-9409086
7 PLCB4 NM_000933.3(PLCB4):c.1948A>C (p.Asn650His) SNV Pathogenic 31641 rs397514483 GRCh37: 20:9389813-9389813
GRCh38: 20:9409166-9409166
8 PLCB4 NM_000933.3(PLCB4):c.1862G>A (p.Arg621His) SNV Pathogenic 31639 rs397514481 GRCh37: 20:9389727-9389727
GRCh38: 20:9409080-9409080
9 GNAI3 NM_006496.4(GNAI3):c.303+1G>A SNV Uncertain significance 989287 GRCh37: 1:110116660-110116660
GRCh38: 1:109574038-109574038
10 PLCB4 NM_000933.3(PLCB4):c.*1672del Deletion Uncertain significance 339616 rs886056991 GRCh37: 20:9461327-9461327
GRCh38: 20:9480680-9480680
11 PLCB4 NM_000933.3(PLCB4):c.3373-4del Deletion Uncertain significance 339593 rs886056984 GRCh37: 20:9453922-9453922
GRCh38: 20:9473275-9473275
12 PLCB4 NM_000933.3(PLCB4):c.3460-5_3460-2del Deletion Uncertain significance 339594 rs886056985 GRCh37: 20:9457356-9457359
GRCh38: 20:9476709-9476712
13 GNAI3 NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr) SNV Uncertain significance 548497 rs1553223899 GRCh37: 1:110116386-110116386
GRCh38: 1:109573764-109573764
14 PLCB4 NM_000933.3(PLCB4):c.*469G>T SNV Uncertain significance 339603 rs886056986 GRCh37: 20:9460125-9460125
GRCh38: 20:9479478-9479478
15 PLCB4 NM_000933.3(PLCB4):c.*1585dup Duplication Likely benign 339615 rs565091978 GRCh37: 20:9461236-9461237
GRCh38: 20:9480589-9480590
16 PLCB4 NM_000933.3(PLCB4):c.*563del Deletion Likely benign 339604 rs148015873 GRCh37: 20:9460219-9460219
GRCh38: 20:9479572-9479572

UniProtKB/Swiss-Prot genetic disease variations for Auriculocondylar Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 GNAI3 p.Gly40Arg VAR_068558 rs387907178

Expression for Auriculocondylar Syndrome 1

Search GEO for disease gene expression data for Auriculocondylar Syndrome 1.

Pathways for Auriculocondylar Syndrome 1

Pathways related to Auriculocondylar Syndrome 1 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 PLCB4 GNAI3
2
Show member pathways
12.5 PLCB4 GNAI3
3
Show member pathways
12.45 PLCB4 GNAI3
4
Show member pathways
12.42 PLCB4 GNAI3
5
Show member pathways
12.4 PLCB4 GNAI3
6
Show member pathways
12.38 PLCB4 GNAI3
7 12.36 PLCB4 GNAI3
8
Show member pathways
12.36 PLCB4 GNAI3
9
Show member pathways
12.3 PLCB4 GNAI3
10
Show member pathways
12.27 PLCB4 GNAI3
11
Show member pathways
12.21 PLCB4 GNAI3
12
Show member pathways
12.2 PLCB4 GNAI3
13
Show member pathways
12.19 PLCB4 GNAI3
14
Show member pathways
12.17 PLCB4 GNAI3
15
Show member pathways
12.11 PLCB4 GNAI3
16
Show member pathways
12.08 PLCB4 GNAI3
17
Show member pathways
12.07 PLCB4 GNAI3
18
Show member pathways
12.02 PLCB4 GNAI3
19
Show member pathways
11.97 PLCB4 GNAI3
20 11.95 PLCB4 GNAI3
21 11.88 PLCB4 GNAI3
22
Show member pathways
11.84 PLCB4 GNAI3
23 11.61 PLCB4 GNAI3
24 11.55 PLCB4 GNAI3
25 11.51 PLCB4 GNAI3
26 11.48 PLCB4 GNAI3
27 11.43 PLCB4 GNAI3
28 11.38 PLCB4 GNAI3
29 11.35 PLCB4 GNAI3
30 11.2 PLCB4 GNAI3
31 10.99 PLCB4 GNAI3
32 10.73 PLCB4 GNAI3
33 10.07 PLCB4 GNAI3

GO Terms for Auriculocondylar Syndrome 1

Sources for Auriculocondylar Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....