ARCND2
MCID: ARC011
MIFTS: 20

Auriculocondylar Syndrome 2 (ARCND2)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Auriculocondylar Syndrome 2

MalaCards integrated aliases for Auriculocondylar Syndrome 2:

Name: Auriculocondylar Syndrome 2 57 75 29 13 6 73
Arcnd2 57 75
Auriculocondylar Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype within families


HPO:

32
auriculocondylar syndrome 2:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Auriculocondylar Syndrome 2

OMIM : 57 Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). (614669)

MalaCards based summary : Auriculocondylar Syndrome 2, is also known as arcnd2, and has symptoms including snoring An important gene associated with Auriculocondylar Syndrome 2 is PLCB4 (Phospholipase C Beta 4). Affiliated tissues include skin, and related phenotypes are macrocephaly and low-set ears

UniProtKB/Swiss-Prot : 75 Auriculocondylar syndrome 2: 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 2

Diseases in the Auriculocondylar Syndrome 1 family:

Auriculocondylar Syndrome 2 Auriculocondylar Syndrome 3

Symptoms & Phenotypes for Auriculocondylar Syndrome 2

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

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

Head And Neck Head:
macrocephaly (25%)

Head And Neck Mouth:
cleft palate
speech articulation difficulties
microstomia (52%)
glossoptosis (46%)
abnormal palate (63%)
more
Skeletal Skull:
short mandibular rami
mandibular condyle hypoplasia
mandibular agenesis
mandibular condyle aplasia
asymmetric mandible
more
Respiratory:
snoring
respiratory difficulties due to orofacial malformations (36%)
apnea, obstructive
apnea, central (in some patients)


Clinical features from OMIM:

614669

Human phenotypes related to Auriculocondylar Syndrome 2:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) 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 apnea 32 HP:0002104
7 dental crowding 32 HP:0000678
8 narrow mouth 32 very rare (1%) HP:0000160
9 round face 32 HP:0000311
10 posteriorly rotated ears 32 HP:0000358
11 speech articulation difficulties 32 HP:0009088
12 hypoplastic superior helix 32 HP:0008559
13 mandibular condyle hypoplasia 32 HP:0007628
14 overfolding of the superior helices 32 HP:0004453
15 ankylosis 32 HP:0031013
16 snoring 32 HP:0025267
17 cleft at the superior portion of the pinna 32 HP:0008537
18 mandibular condyle aplasia 32 HP:0007627

UMLS symptoms related to Auriculocondylar Syndrome 2:


snoring

Drugs & Therapeutics for Auriculocondylar Syndrome 2

Search Clinical Trials , NIH Clinical Center for Auriculocondylar Syndrome 2

Genetic Tests for Auriculocondylar Syndrome 2

Genetic tests related to Auriculocondylar Syndrome 2:

# Genetic test Affiliating Genes
1 Auriculocondylar Syndrome 2 29 PLCB4

Anatomical Context for Auriculocondylar Syndrome 2

MalaCards organs/tissues related to Auriculocondylar Syndrome 2:

41
Skin

Publications for Auriculocondylar Syndrome 2

Variations for Auriculocondylar Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Auriculocondylar Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 PLCB4 p.Asn329Thr VAR_068559 rs387907179
2 PLCB4 p.Arg621Cys VAR_068560 rs397514482
3 PLCB4 p.Arg621His VAR_068561 rs397514481
4 PLCB4 p.Tyr623Cys VAR_068562 rs397514480
5 PLCB4 p.Asn650His VAR_068563 rs397514483

ClinVar genetic disease variations for Auriculocondylar Syndrome 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCB4 NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys) single nucleotide variant Pathogenic rs397514480 GRCh37 Chromosome 20, 9389733: 9389733
2 PLCB4 NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys) single nucleotide variant Pathogenic rs397514480 GRCh38 Chromosome 20, 9409086: 9409086
3 PLCB4 NM_001172646.1(PLCB4): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs387907179 GRCh37 Chromosome 20, 9364980: 9364980
4 PLCB4 NM_001172646.1(PLCB4): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs387907179 GRCh38 Chromosome 20, 9384333: 9384333
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 PLCB4 NM_001172646.1(PLCB4): c.1898G> T (p.Arg633Leu) single nucleotide variant Pathogenic rs397514481 GRCh37 Chromosome 20, 9389727: 9389727
12 PLCB4 NM_001172646.1(PLCB4): c.1898G> T (p.Arg633Leu) single nucleotide variant Pathogenic rs397514481 GRCh38 Chromosome 20, 9409080: 9409080
13 PLCB4 NM_001172646.1(PLCB4): c.1073A> T (p.Glu358Val) single nucleotide variant Pathogenic rs397514769 GRCh37 Chromosome 20, 9368118: 9368118
14 PLCB4 NM_001172646.1(PLCB4): c.1073A> T (p.Glu358Val) single nucleotide variant Pathogenic rs397514769 GRCh38 Chromosome 20, 9387471: 9387471
15 PLCB4 NM_001172646.1(PLCB4): c.1078G> A (p.Asp360Asn) single nucleotide variant Pathogenic rs397514770 GRCh37 Chromosome 20, 9368123: 9368123
16 PLCB4 NM_001172646.1(PLCB4): c.1078G> A (p.Asp360Asn) single nucleotide variant Pathogenic rs397514770 GRCh38 Chromosome 20, 9387476: 9387476
17 PLCB4 NM_001172646.1(PLCB4): c.1079A> T (p.Asp360Val) single nucleotide variant Pathogenic rs397514771 GRCh37 Chromosome 20, 9368124: 9368124
18 PLCB4 NM_001172646.1(PLCB4): c.1079A> T (p.Asp360Val) single nucleotide variant Pathogenic rs397514771 GRCh38 Chromosome 20, 9387477: 9387477
19 PLCB4 NG_032790.1: g.343582_348578del4997 deletion Pathogenic GRCh37 Chromosome 20, 9388282: 9393278
20 PLCB4 NG_032790.1: g.343582_348578del4997 deletion Pathogenic GRCh38 Chromosome 20, 9407635: 9412631

Expression for Auriculocondylar Syndrome 2

Search GEO for disease gene expression data for Auriculocondylar Syndrome 2.

Pathways for Auriculocondylar Syndrome 2

GO Terms for Auriculocondylar Syndrome 2

Sources for Auriculocondylar Syndrome 2

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74 UMLS via Orphanet
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