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ACNINV2
MCID: ACN030
MIFTS: 22
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Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease (ACNINV2)
Categories:
Genetic diseases, Skin diseases
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Aliases & Classifications for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease
MalaCards integrated aliases for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
marked variability in severity of the skin lesions males more frequently have severe lesions skin lesions on back, face, nape of neck, and waist tend to be mild Classifications: |
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OMIM®: 57 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 al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see 179850) (Zhou et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see 142690. (613736) (Updated 08-Dec-2022) MalaCards based summary: Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease, also known as acninv2, is related to acne inversa, familial, 1 and acne inversa, familial, 3. An important gene associated with Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease is PSENEN (Presenilin Enhancer, Gamma-Secretase Subunit). Affiliated tissues include skin, and related phenotypes are recurrent cutaneous abscess formation and squamous cell carcinoma UniProtKB/Swiss-Prot: 73 An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling- Degos disease. |
Diseases related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:30 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613736 (Updated 08-Dec-2022) |
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Organs/tissues related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:
MalaCards :
Skin
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Articles related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:
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Genes related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:5
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Search
GEO
for disease gene expression data for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease.
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