ARCND3
MCID: ARC017
MIFTS: 20

Auriculocondylar Syndrome 3 (ARCND3)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Auriculocondylar Syndrome 3

MalaCards integrated aliases for Auriculocondylar Syndrome 3:

Name: Auriculocondylar Syndrome 3 57 72 29 6 70
Arcnd3 57 72
Auriculocondylar Syndrome, Type 3 39

Characteristics:

OMIM®:

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


HPO:

31
auriculocondylar syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615706
OMIM Phenotypic Series 57 PS602483
UMLS 70 C3810332

Summaries for Auriculocondylar Syndrome 3

OMIM® : 57 Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013). For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). (615706) (Updated 05-Apr-2021)

MalaCards based summary : Auriculocondylar Syndrome 3, is also known as arcnd3. An important gene associated with Auriculocondylar Syndrome 3 is EDN1 (Endothelin 1). Affiliated tissues include bone, and related phenotypes are stenosis of the external auditory canal and bilateral conductive hearing impairment

UniProtKB/Swiss-Prot : 72 Auriculocondylar syndrome 3: A 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.

Related Diseases for Auriculocondylar Syndrome 3

Diseases in the Auriculocondylar Syndrome 1 family:

Auriculocondylar Syndrome 2 Auriculocondylar Syndrome 3

Symptoms & Phenotypes for Auriculocondylar Syndrome 3

Human phenotypes related to Auriculocondylar Syndrome 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 stenosis of the external auditory canal 31 occasional (7.5%) HP:0000402
2 bilateral conductive hearing impairment 31 occasional (7.5%) HP:0008513
3 full cheeks 31 HP:0000293
4 retrognathia 31 HP:0000278
5 micrognathia 31 HP:0000347
6 glossoptosis 31 HP:0000162
7 bifid uvula 31 HP:0000193
8 laryngeal cleft 31 HP:0008751
9 question mark ear 31 HP:0030022

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
full cheeks
retrognathia
micrognathia

Respiratory Larynx:
laryngeal cleft

Head And Neck Ears:
question mark ears
bilateral conductive hearing loss (rare)
narrow auditory canals (rare)

Head And Neck Mouth:
glossoptosis
bifid uvula
ectopic uvula
lingual hamartomas
lingual appendages
more
Skeletal Skull:
mandibular hypoplasia
thickened zygomatic process of right temporal bone (rare)

Cardiovascular Vascular:
dilation of vein of galen (rare)

Clinical features from OMIM®:

615706 (Updated 05-Apr-2021)

Drugs & Therapeutics for Auriculocondylar Syndrome 3

Search Clinical Trials , NIH Clinical Center for Auriculocondylar Syndrome 3

Genetic Tests for Auriculocondylar Syndrome 3

Genetic tests related to Auriculocondylar Syndrome 3:

# Genetic test Affiliating Genes
1 Auriculocondylar Syndrome 3 29 EDN1

Anatomical Context for Auriculocondylar Syndrome 3

MalaCards organs/tissues related to Auriculocondylar Syndrome 3:

40
Bone

Publications for Auriculocondylar Syndrome 3

Articles related to Auriculocondylar Syndrome 3:

# Title Authors PMID Year
1
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 57 6
24268655 2013
2
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 6 57
23315542 2013
3
Auriculo-condylar syndrome: additional patients. 57 6
12244558 2002
4
Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity? 57
11045585 2000
5
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1. 61
33723370 2021

Variations for Auriculocondylar Syndrome 3

ClinVar genetic disease variations for Auriculocondylar Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDN1 NM_001955.5(EDN1):c.271A>G (p.Lys91Glu) SNV Pathogenic 120212 rs587777231 GRCh37: 6:12294211-12294211
GRCh38: 6:12293978-12293978
2 EDN1 NM_001955.5(EDN1):c.230C>A (p.Pro77His) SNV Pathogenic 120213 rs587777232 GRCh37: 6:12292739-12292739
GRCh38: 6:12292506-12292506

UniProtKB/Swiss-Prot genetic disease variations for Auriculocondylar Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 EDN1 p.Pro77His VAR_071153 rs587777232
2 EDN1 p.Lys91Glu VAR_071154 rs587777231

Expression for Auriculocondylar Syndrome 3

Search GEO for disease gene expression data for Auriculocondylar Syndrome 3.

Pathways for Auriculocondylar Syndrome 3

GO Terms for Auriculocondylar Syndrome 3

Sources for Auriculocondylar Syndrome 3

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
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