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 57 72 29 6 39
Cosman Deformity of the Auricle 57 72
Qme 57 72
Ears, Prominent and Constricted 57
Prominent and Constricted Ears 72
Auricular Cleft, Congenital 57
Congenital Auricular Cleft 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
question mark ears, isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612798
MeSH 44 D004427
MedGen 41 C2748545
SNOMED-CT via HPO 68 263681008

Summaries for Question Mark Ears, Isolated

OMIM® : 57 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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 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 11.0
2 auriculocondylar syndrome 1 10.0

Symptoms & Phenotypes for Question Mark Ears, Isolated

Human phenotypes related to Question Mark Ears, Isolated:

31
# Description HPO Frequency HPO Source Accession
1 question mark ear 31 HP:0030022

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 EDN1

Anatomical Context for Question Mark Ears, Isolated

Publications for Question Mark Ears, Isolated

Articles related to Question Mark Ears, Isolated:

# 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
Cosman (question mark) ear: congenital auricular cleft between the fifth and sixth hillocks. 61 57
9703081 1998
4
Congenital auricular cleft. 61 57
6823486 1983
5
Autosomal dominant isolated question mark ear. 57
18680186 2008
6
The question mark ear: an unappreciated major anomaly of the auricle. 57
6709737 1984
7
The Question Mark ear. 57
4919280 1970
8
The question mark ear (congenital auricular cleft): a familial case. 61
2647020 1989

Variations for Question Mark Ears, Isolated

ClinVar genetic disease variations for Question Mark Ears, Isolated:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDN1 NM_001955.5(EDN1):c.191T>A (p.Val64Asp) SNV Pathogenic 120214 rs587777233 GRCh37: 6:12292700-12292700
GRCh38: 6:12292467-12292467
2 EDN1 NM_001955.5(EDN1):c.249T>G (p.Tyr83Ter) SNV Pathogenic 120215 rs587777234 GRCh37: 6:12294189-12294189
GRCh38: 6:12293956-12293956
3 EDN1 NM_001955.5(EDN1):c.184G>C (p.Glu62Gln) SNV Uncertain significance 592103 rs1561693994 GRCh37: 6:12292693-12292693
GRCh38: 6:12292460-12292460

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

72
# Symbol AA change Variation ID SNP ID
1 EDN1 p.Val64Asp VAR_071152 rs587777233

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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