MCID: ARC016
MIFTS: 35

Auriculocondylar Syndrome 1

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Auriculocondylar Syndrome 1

MalaCards integrated aliases for Auriculocondylar Syndrome 1:

Name: Auriculocondylar Syndrome 1 57 75 29 13 6
Stomatognathic System Abnormalities 44 73
Question Mark Ears Syndrome 57 75
Dysgnathia Complex 75 73
Arcnd1 57 75
Auriculocondylar Syndrome, Type 1 40
Auriculo-Condylar Syndrome 73
Acs 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
congenital disorder
variable phenotype within families


HPO:

32
auriculocondylar syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Auriculocondylar Syndrome 1

UniProtKB/Swiss-Prot : 75 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 stomatognathic system abnormalities, is related to auriculo-condylar syndrome and angioedema induced by ace inhibitors, 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 Aldosterone synthesis and secretion and Toll-like Receptor Signaling Pathway. Affiliated tissues include skin, and related phenotypes are macrocephaly and low-set ears

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)

Related Diseases for Auriculocondylar Syndrome 1

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



Diseases related to Auriculocondylar Syndrome 1

Symptoms & Phenotypes for Auriculocondylar Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
overfolding of the superior helices
malformed ears
auricular clefts
more
Head And Neck Face:
micrognathia
prominent cheeks
round facial appearance

Skeletal Skull:
short mandibular rami
mandibular condyle hypoplasia
mandibular agenesis
mandibular condyle aplasia
asymmetric mandible
more
Head And Neck Head:
macrocephaly (25%)

Head And Neck Mouth:
cleft palate
speech articulation difficulties
microstomia (52%)
glossoptosis (46%)
abnormal palate (63%)
more
Respiratory:
apnea
snoring
respiratory difficulties due to orofacial malformations (36%)

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


Clinical features from OMIM:

602483

Human phenotypes related to Auriculocondylar Syndrome 1:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 low-set ears 32 HP:0000369
3 dental malocclusion 32 HP:0000689
4 glossoptosis 32 very rare (1%) HP:0000162
5 cleft palate 32 HP:0000175
6 micrognathia 32 very rare (1%) HP:0000347
7 apnea 32 HP:0002104
8 dental crowding 32 HP:0000678
9 narrow mouth 32 very rare (1%) HP:0000160
10 round face 32 HP:0000311
11 preauricular skin tag 32 HP:0000384
12 stenosis of the external auditory canal 32 very rare (1%) HP:0000402
13 cupped ear 32 HP:0000378
14 posteriorly rotated ears 32 HP:0000358
15 speech articulation difficulties 32 HP:0009088
16 hypoplastic superior helix 32 HP:0008559
17 mandibular condyle hypoplasia 32 HP:0007628
18 overfolding of the superior helices 32 HP:0004453
19 snoring 32 HP:0025267
20 cleft at the superior portion of the pinna 32 HP:0008537
21 mandibular condyle aplasia 32 HP:0007627
22 anterior open-bite malocclusion 32 HP:0009102
23 postauricular skin tag 32 HP:0004451
24 impaired mastication 32 HP:0005216

UMLS symptoms related to Auriculocondylar Syndrome 1:


apnea, snoring

Drugs & Therapeutics for Auriculocondylar Syndrome 1

Search Clinical Trials , 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

MalaCards organs/tissues related to Auriculocondylar Syndrome 1:

41
Skin

Publications for Auriculocondylar Syndrome 1

Articles related to Auriculocondylar Syndrome 1:

# Title Authors Year
1
Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology. ( 23610864 )
2013
2
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. ( 24167467 )
2013
3
OTX2 mutations contribute to the otocephaly-dysgnathia complex. ( 22577225 )
2012
4
Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). ( 17152114 )
2007
5
Airway management during an EXIT procedure for a fetus with dysgnathia complex. ( 15330963 )
2004
6
Transmission of the dysgnathia complex from mother to daughter. ( 11102934 )
2000

Variations for Auriculocondylar Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 GNAI3 p.Gly40Arg VAR_068558 rs387907178

ClinVar genetic disease variations for Auriculocondylar Syndrome 1:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAI3 NM_006496.3(GNAI3): c.118G> C (p.Gly40Arg) single nucleotide variant Pathogenic rs387907178 GRCh37 Chromosome 1, 110091460: 110091460
2 GNAI3 NM_006496.3(GNAI3): c.118G> C (p.Gly40Arg) single nucleotide variant Pathogenic rs387907178 GRCh38 Chromosome 1, 109548838: 109548838
3 PLCB4 NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys) single nucleotide variant Pathogenic rs397514480 GRCh37 Chromosome 20, 9389733: 9389733
4 PLCB4 NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys) single nucleotide variant Pathogenic rs397514480 GRCh38 Chromosome 20, 9409086: 9409086
5 PLCB4 NM_000933.3(PLCB4): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic/Likely pathogenic rs397514481 GRCh37 Chromosome 20, 9389727: 9389727
6 PLCB4 NM_000933.3(PLCB4): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic/Likely pathogenic rs397514481 GRCh38 Chromosome 20, 9409080: 9409080
7 PLCB4 NM_000933.3(PLCB4): c.1861C> T (p.Arg621Cys) single nucleotide variant Pathogenic rs397514482 GRCh37 Chromosome 20, 9389726: 9389726
8 PLCB4 NM_000933.3(PLCB4): c.1861C> T (p.Arg621Cys) single nucleotide variant Pathogenic rs397514482 GRCh38 Chromosome 20, 9409079: 9409079
9 PLCB4 NM_000933.3(PLCB4): c.1948A> C (p.Asn650His) single nucleotide variant Pathogenic rs397514483 GRCh37 Chromosome 20, 9389813: 9389813
10 PLCB4 NM_000933.3(PLCB4): c.1948A> C (p.Asn650His) single nucleotide variant Pathogenic rs397514483 GRCh38 Chromosome 20, 9409166: 9409166
11 GNAI3 NM_006496.3(GNAI3): c.141C> A (p.Ser47Arg) single nucleotide variant Pathogenic rs397514768 GRCh37 Chromosome 1, 110116381: 110116381
12 GNAI3 NM_006496.3(GNAI3): c.141C> A (p.Ser47Arg) single nucleotide variant Pathogenic rs397514768 GRCh38 Chromosome 1, 109573759: 109573759
13 PLCB4 NM_000933.3(PLCB4): c.986A> C (p.Asn329Thr) single nucleotide variant Pathogenic rs387907179 GRCh37 Chromosome 20, 9364980: 9364980
14 PLCB4 NM_000933.3(PLCB4): c.986A> C (p.Asn329Thr) single nucleotide variant Pathogenic rs387907179 GRCh38 Chromosome 20, 9384333: 9384333

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 GNAI3 PLCB4
2
Show member pathways
12.48 GNAI3 PLCB4
3
Show member pathways
12.38 GNAI3 PLCB4
4
Show member pathways
12.37 GNAI3 PLCB4
5 12.33 GNAI3 PLCB4
6
Show member pathways
12.3 GNAI3 PLCB4
7
Show member pathways
12.25 GNAI3 PLCB4
8
Show member pathways
12.24 GNAI3 PLCB4
9
Show member pathways
12.18 GNAI3 PLCB4
10
Show member pathways
12.17 GNAI3 PLCB4
11
Show member pathways
12.16 GNAI3 PLCB4
12
Show member pathways
12.07 GNAI3 PLCB4
13
Show member pathways
12.05 GNAI3 PLCB4
14 11.89 GNAI3 PLCB4
15
Show member pathways
11.85 GNAI3 PLCB4
16
Show member pathways
11.73 GNAI3 PLCB4
17 11.61 GNAI3 PLCB4
18 11.55 GNAI3 PLCB4
19
Show member pathways
11.5 GNAI3 PLCB4
20 11.5 GNAI3 PLCB4
21 11.47 GNAI3 PLCB4
22 11.42 GNAI3 PLCB4
23 11.38 GNAI3 PLCB4
24 11.35 GNAI3 PLCB4
25 11.2 GNAI3 PLCB4
26 10.97 GNAI3 PLCB4
27 10.73 GNAI3 PLCB4
28 10.07 GNAI3 PLCB4

GO Terms for Auriculocondylar Syndrome 1

Molecular functions related to Auriculocondylar Syndrome 1 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 Auriculocondylar Syndrome 1

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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