MCID: PRR023
MIFTS: 7

Preauricular Tag, Isolated, Autosomal Dominant, 1

Aliases & Classifications for Preauricular Tag, Isolated, Autosomal Dominant, 1

MalaCards integrated aliases for Preauricular Tag, Isolated, Autosomal Dominant, 1:

Name: Preauricular Tag, Isolated, Autosomal Dominant, 1 57 13

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
present at birth


HPO:

31
preauricular tag, isolated, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 610420
MedGen 41 C1968893
SNOMED-CT via HPO 68 263681008

Summaries for Preauricular Tag, Isolated, Autosomal Dominant, 1

OMIM® : 57 A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face (Yang et al., 2006). Other synonymous terms include preauricular appendage, accessory tragus (Tunkel, 2007), and less commonly, accessory auricle (Yang et al., 2006). (610420) (Updated 05-Apr-2021)

MalaCards based summary : Preauricular Tag, Isolated, Autosomal Dominant, 1 An important gene associated with Preauricular Tag, Isolated, Autosomal Dominant, 1 is PAURT1 (Preauricular Tag, Isolated, Autosomal Dominant, 1). Related phenotype is preauricular skin tag.

Related Diseases for Preauricular Tag, Isolated, Autosomal Dominant, 1

Symptoms & Phenotypes for Preauricular Tag, Isolated, Autosomal Dominant, 1

Human phenotypes related to Preauricular Tag, Isolated, Autosomal Dominant, 1:

31
# Description HPO Frequency HPO Source Accession
1 preauricular skin tag 31 HP:0000384

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
preauricular tag, isolated (skin covered and composed of elastic cartilage usually located anterior to the tragus or ascending crus of the helix but can be elsewhere on the ear or face)

Clinical features from OMIM®:

610420 (Updated 05-Apr-2021)

Drugs & Therapeutics for Preauricular Tag, Isolated, Autosomal Dominant, 1

Search Clinical Trials , NIH Clinical Center for Preauricular Tag, Isolated, Autosomal Dominant, 1

Genetic Tests for Preauricular Tag, Isolated, Autosomal Dominant, 1

Anatomical Context for Preauricular Tag, Isolated, Autosomal Dominant, 1

Publications for Preauricular Tag, Isolated, Autosomal Dominant, 1

Articles related to Preauricular Tag, Isolated, Autosomal Dominant, 1:

# Title Authors PMID Year
1
A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2-q12. 57
16775710 2006

Variations for Preauricular Tag, Isolated, Autosomal Dominant, 1

Expression for Preauricular Tag, Isolated, Autosomal Dominant, 1

Search GEO for disease gene expression data for Preauricular Tag, Isolated, Autosomal Dominant, 1.

Pathways for Preauricular Tag, Isolated, Autosomal Dominant, 1

GO Terms for Preauricular Tag, Isolated, Autosomal Dominant, 1

Sources for Preauricular Tag, Isolated, Autosomal Dominant, 1

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