MCID: QST001
MIFTS: 18

Question Mark Ears, Isolated

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Question Mark Ears, Isolated

MalaCards integrated aliases for Question Mark Ears, Isolated:

Name: Question Mark Ears, Isolated 57 75 29 6 40
Cosman Deformity of the Auricle 57 75
Qme 57 75
Ears, Prominent and Constricted 57
Prominent and Constricted Ears 75
Auricular Cleft, Congenital 57
Congenital Auricular Cleft 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
question mark ears, isolated:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612798
MedGen 42 C2748545
MeSH 44 D004427
SNOMED-CT via HPO 69 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)

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 : 75 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 11.3
2 auriculocondylar syndrome 3 11.1

Symptoms & Phenotypes for Question Mark Ears, Isolated

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
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
shallow skin dimple on posterior surface of ear
more

Clinical features from OMIM:

612798

Human phenotypes related to Question Mark Ears, Isolated:

32
# Description HPO Frequency HPO Source Accession
1 question mark ear 32 HP:0030022

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

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

41
Skin

Publications for Question Mark Ears, Isolated

Variations for Question Mark Ears, Isolated

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

75
# 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

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 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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