MCID: PRR023
MIFTS: 8

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
Inheritance:
autosomal dominant

Miscellaneous:
present at birth


HPO:

32
preauricular tag, isolated, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 610420
MedGen 42 C1968893
SNOMED-CT via HPO 69 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)

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). Affiliated tissues include skin, and related phenotype is preauricular skin tag.

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 preauricular skin tag 32 HP:0000384

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

MalaCards organs/tissues related to Preauricular Tag, Isolated, Autosomal Dominant, 1:

41
Skin

Publications for Preauricular Tag, Isolated, Autosomal Dominant, 1

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 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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