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GTR Home > Conditions/Phenotypes > Acne inversa, familial, 3

Acne inversa, familial, 3

Summary

Acne inversa, also known as hidradenitis suppurativa, 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 al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690. [from OMIM]

Available tests

23 tests are in the database for this condition.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182, PSEN1
    Summary: presenilin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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