PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
610420
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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). ... |
| Clinical Description OMIM |
Yang et al. (2006) reported a 3-generation Chinese family in which 11 members had isolated preauricular tags inherited in an autosomal dominant pattern. Some parents of affected individuals recalled that the tag was present from birth. Most were ... |