ACNE INVERSA, FAMILIAL, 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACNINV3 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
613737
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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:0100838) | Recurrent cutaneous abscess formation | 15 / 7739 | ||||
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(HPO:0011132) | Chronic furunculosis | 3 / 7739 | ||||
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(HPO:0012322) | Perifolliculitis | 3 / 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 |
In a 3-generation Chinese family segregating autosomal dominant acne inversa, Wang et al. (2010) identified heterozygosity for a frameshift mutation in the PSEN1 gene in affected individuals (104311.0038). Wang et al. (2010) noted that all Alzheimer disease/dementia-causing PSEN ... |