QME
MCID: QST001
MIFTS: 20

Question Mark Ears, Isolated (QME)

Categories: Ear diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Question Mark Ears, Isolated

MalaCards integrated aliases for Question Mark Ears, Isolated:

Name: Question Mark Ears, Isolated 58 76 30 6 41
Cosman Deformity of the Auricle 58 76
Qme 58 76
Ears, Prominent and Constricted 58
Prominent and Constricted Ears 76
Auricular Cleft, Congenital 58
Congenital Auricular Cleft 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
question mark ears, isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612798
MeSH 45 D004427
MedGen 43 C2748545
SNOMED-CT via HPO 70 204245004 232381002 263681008

Summaries for Question Mark Ears, Isolated

OMIM : 58 Question mark ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral (Shkalim et al., 2008). (612798)

MalaCards based summary : Question Mark Ears, Isolated, also known as cosman deformity of the auricle, is related to auriculo-condylar syndrome and auriculocondylar syndrome 3. An important gene associated with Question Mark Ears, Isolated is EDN1 (Endothelin 1). Affiliated tissues include skin, and related phenotype is question mark ear.

UniProtKB/Swiss-Prot : 76 Question mark ears, isolated: An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus.

Related Diseases for Question Mark Ears, Isolated

Diseases related to Question Mark Ears, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 auriculo-condylar syndrome 11.5
2 auriculocondylar syndrome 3 11.3

Symptoms & Phenotypes for Question Mark Ears, Isolated

Human phenotypes related to Question Mark Ears, Isolated:

33
# Description HPO Frequency HPO Source Accession
1 question mark ear 33 HP:0030022

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
normal hearing
question mark ears
prominence and protrusion of upper third of the ear
absence of the helix and distal scapha in middle third of the ear
disjunction of otherwise normal lobule from remainder of ear
more

Clinical features from OMIM:

612798

Drugs & Therapeutics for Question Mark Ears, Isolated

Search Clinical Trials , NIH Clinical Center for Question Mark Ears, Isolated

Genetic Tests for Question Mark Ears, Isolated

Genetic tests related to Question Mark Ears, Isolated:

# Genetic test Affiliating Genes
1 Question Mark Ears, Isolated 30 EDN1

Anatomical Context for Question Mark Ears, Isolated

MalaCards organs/tissues related to Question Mark Ears, Isolated:

42
Skin

Publications for Question Mark Ears, Isolated

Articles related to Question Mark Ears, Isolated:

# Title Authors Year
1
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. ( 23315542 )
2013
2
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. ( 24268655 )
2013

Variations for Question Mark Ears, Isolated

UniProtKB/Swiss-Prot genetic disease variations for Question Mark Ears, Isolated:

76
# Symbol AA change Variation ID SNP ID
1 EDN1 p.Val64Asp VAR_071152 rs587777233

ClinVar genetic disease variations for Question Mark Ears, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDN1 NM_001955.4(EDN1): c.191T> A (p.Val64Asp) single nucleotide variant Pathogenic rs587777233 GRCh37 Chromosome 6, 12292700: 12292700
2 EDN1 NM_001955.4(EDN1): c.191T> A (p.Val64Asp) single nucleotide variant Pathogenic rs587777233 GRCh38 Chromosome 6, 12292467: 12292467
3 EDN1 NM_001955.4(EDN1): c.249T> G (p.Tyr83Ter) single nucleotide variant Pathogenic rs587777234 GRCh37 Chromosome 6, 12294189: 12294189
4 EDN1 NM_001955.4(EDN1): c.249T> G (p.Tyr83Ter) single nucleotide variant Pathogenic rs587777234 GRCh38 Chromosome 6, 12293956: 12293956
5 EDN1 NM_001955.5(EDN1): c.184G> C (p.Glu62Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 12292693: 12292693
6 EDN1 NM_001955.5(EDN1): c.184G> C (p.Glu62Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 12292460: 12292460

Expression for Question Mark Ears, Isolated

Search GEO for disease gene expression data for Question Mark Ears, Isolated.

Pathways for Question Mark Ears, Isolated

GO Terms for Question Mark Ears, Isolated

Sources for Question Mark Ears, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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