ARCND3
MCID: ARC017
MIFTS: 21

Auriculocondylar Syndrome 3 (ARCND3)

Categories: Ear diseases, Genetic diseases
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Aliases & Classifications for Auriculocondylar Syndrome 3

MalaCards integrated aliases for Auriculocondylar Syndrome 3:

Name: Auriculocondylar Syndrome 3 57 73 28 5 71
Arcnd3 57 73
Auriculocondylar Syndrome, Type 3 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

OMIM® 57 615706
OMIM Phenotypic Series 57 PS602483
UMLS 71 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 24-Oct-2022)

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: 73 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:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stenosis of the external auditory canal 30 Occasional (7.5%) HP:0000402
2 bilateral conductive hearing impairment 30 Occasional (7.5%) HP:0008513
3 full cheeks 30 HP:0000293
4 retrognathia 30 HP:0000278
5 micrognathia 30 HP:0000347
6 glossoptosis 30 HP:0000162
7 bifid uvula 30 HP:0000193
8 laryngeal cleft 30 HP:0008751
9 question mark ear 30 HP:0030022

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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 28 EDN1

Anatomical Context for Auriculocondylar Syndrome 3

Organs/tissues related to Auriculocondylar Syndrome 3:

MalaCards : 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 5
24268655 2013
2
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. 57 5
23315542 2013
3
Auriculo-condylar syndrome: additional patients. 57 5
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. 62
33723370 2021

Variations for Auriculocondylar Syndrome 3

ClinVar genetic disease variations for Auriculocondylar Syndrome 3:

5
# 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
3 EDN1 NM_001955.5(EDN1):c.594G>T (p.Lys198Asn) SNV Benign
16652 rs5370 GRCh37: 6:12296255-12296255
GRCh38: 6:12296022-12296022
4 EDN1 NM_001955.5(EDN1):c.318A>G (p.Glu106=) SNV Benign
1255370 GRCh37: 6:12294258-12294258
GRCh38: 6:12294025-12294025

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

73
# 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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