ACNE INVERSA, FAMILIAL, 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACNINV2 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
613736
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0012322) | Perifolliculitis | 3 / 7739 | ||||
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(HPO:0011132) | Chronic furunculosis | 3 / 7739 | ||||
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(HPO:0100838) | Recurrent cutaneous abscess formation | 15 / 7739 | ||||
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(HPO:0040154) | Acne inversa | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et ... |
| Molecular genetics OMIM | Wang et al. (2010) mapped an acne inversa locus to an interval on chromosome 19q13 using 2 large 4-generation Han Chinese families. Each family had a frameshift mutation in the PSENEN gene (607632.0001, 607632.0002). |