ARCND3
MCID: ARC017
MIFTS: 18

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 75 29 6 73
Arcnd3 57 75
Auriculocondylar Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
auriculocondylar syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



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)

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 full cheeks and glossoptosis

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
full cheeks
micrognathia
retrognathia

Skeletal Skull:
mandibular hypoplasia
thickened zygomatic process of right temporal bone (rare)

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
Respiratory Larynx:
laryngeal cleft

Cardiovascular Vascular:
dilation of vein of galen (rare)


Clinical features from OMIM:

615706

Human phenotypes related to Auriculocondylar Syndrome 3:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 full cheeks 32 HP:0000293
2 glossoptosis 32 HP:0000162
3 micrognathia 32 HP:0000347
4 retrognathia 32 HP:0000278
5 stenosis of the external auditory canal 32 occasional (7.5%) HP:0000402
6 bifid uvula 32 HP:0000193
7 bilateral conductive hearing impairment 32 occasional (7.5%) HP:0008513
8 laryngeal cleft 32 HP:0008751
9 question mark ear 32 HP:0030022

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:

41
Bone

Publications for Auriculocondylar Syndrome 3

Variations for Auriculocondylar Syndrome 3

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

75
# Symbol AA change Variation ID SNP ID
1 EDN1 p.Pro77His VAR_071153 rs587777232
2 EDN1 p.Lys91Glu VAR_071154 rs587777231

ClinVar genetic disease variations for Auriculocondylar Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDN1 NM_001955.4(EDN1): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs587777231 GRCh37 Chromosome 6, 12294211: 12294211
2 EDN1 NM_001955.4(EDN1): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs587777231 GRCh38 Chromosome 6, 12293978: 12293978
3 EDN1 NM_001955.4(EDN1): c.230C> A (p.Pro77His) single nucleotide variant Pathogenic rs587777232 GRCh37 Chromosome 6, 12292739: 12292739
4 EDN1 NM_001955.4(EDN1): c.230C> A (p.Pro77His) single nucleotide variant Pathogenic rs587777232 GRCh38 Chromosome 6, 12292506: 12292506

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 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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