ACNINV2
MCID: ACN030
MIFTS: 20

Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease (ACNINV2)

Categories: Genetic diseases, Skin diseases

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:

Name: Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 58 76
Acninv2 58 76
Hidradenitis Suppurativa Familial 76
Acne Inversa, Familial, 2 74
Acne Inversa Familial 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
acne inversa, familial, 2, with or without dowling-degos disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

OMIM : 58 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)

MalaCards based summary : Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease, also known as acninv2, is related to acne inversa, familial, 3 and acne inversa, familial, 1. 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 follicular hyperkeratosis

UniProtKB/Swiss-Prot : 76 Acne inversa, familial, 2, with or without Dowling-Degos disease: 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.

Related Diseases for Acne Inversa, Familial, 2, with or Without 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:

# Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 3 12.8
2 acne inversa, familial, 1 12.7
3 hidradenitis suppurativa 11.4
4 dowling-degos disease 1 10.1
5 malignant atrophic papulosis 10.1
6 dowling-degos disease 10.1
7 hidradenitis 10.0

Graphical network of the top 20 diseases related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:



Diseases related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Symptoms & Phenotypes for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Human phenotypes related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:

33
# Description HPO Frequency HPO Source Accession
1 recurrent cutaneous abscess formation 33 HP:0100838
2 follicular hyperkeratosis 33 HP:0007502
3 chronic furunculosis 33 HP:0011132
4 perifolliculitis 33 HP:0012322
5 acne inversa 33 HP:0040154

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
follicular hyperkeratosis
follicular plugging
dilated hair follicles
perifollicular acanthosis
downward elongations of rete ridges in reticulated pattern
more
Neoplasia:
squamous cell carcinoma (rarely develops in lesional areas)

Skin Nails Hair Skin:
acne inversa (predominantly affecting armpit, groin, inner thigh, perianal and perineal, submammary, and buttock regions)
reticulate pigmentation in flexural areas (in some patients)
reticulate pigmentation of face, trunk, and neck (in some patients)

Clinical features from OMIM:

613736

Drugs & Therapeutics for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Search Clinical Trials , NIH Clinical Center for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Genetic Tests for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Anatomical Context for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

MalaCards organs/tissues related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:

42
Skin

Publications for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Variations for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

ClinVar genetic disease variations for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSENEN NM_172341.3(PSENEN): c.66delG (p.Phe23Leufs) deletion Pathogenic rs1555738837 GRCh37 Chromosome 19, 36237324: 36237324
2 PSENEN NM_172341.3(PSENEN): c.66delG (p.Phe23Leufs) deletion Pathogenic rs1555738837 GRCh38 Chromosome 19, 35746423: 35746423
3 PSENEN NM_172341.3(PSENEN): c.279delC (p.Phe94Serfs) deletion Pathogenic rs1555738943 GRCh38 Chromosome 19, 35746820: 35746820
4 PSENEN NM_172341.3(PSENEN): c.279delC (p.Phe94Serfs) deletion Pathogenic rs1555738943 GRCh37 Chromosome 19, 36237721: 36237721
5 PSENEN NM_172341.3(PSENEN): c.66dup (p.Phe23Valfs) duplication Pathogenic rs1555738837 GRCh38 Chromosome 19, 35746423: 35746423
6 PSENEN NM_172341.3(PSENEN): c.66dup (p.Phe23Valfs) duplication Pathogenic rs1555738837 GRCh37 Chromosome 19, 36237324: 36237324
7 PSENEN NM_172341.3(PSENEN): c.35T> A (p.Leu12Ter) single nucleotide variant Pathogenic rs1555738763 GRCh38 Chromosome 19, 35745965: 35745965
8 PSENEN NM_172341.3(PSENEN): c.35T> A (p.Leu12Ter) single nucleotide variant Pathogenic rs1555738763 GRCh37 Chromosome 19, 36236866: 36236866
9 PSENEN NM_172341.3(PSENEN): c.194T> G (p.Leu65Arg) single nucleotide variant Pathogenic rs1555738906 GRCh38 Chromosome 19, 35746735: 35746735
10 PSENEN NM_172341.3(PSENEN): c.194T> G (p.Leu65Arg) single nucleotide variant Pathogenic rs1555738906 GRCh37 Chromosome 19, 36237636: 36237636
11 PSENEN NM_172341.3(PSENEN): c.167-2A> G single nucleotide variant Pathogenic rs1555738903 GRCh37 Chromosome 19, 36237607: 36237607
12 PSENEN NM_172341.3(PSENEN): c.167-2A> G single nucleotide variant Pathogenic rs1555738903 GRCh38 Chromosome 19, 35746706: 35746706
13 PSENEN NM_172341.3(PSENEN): c.62-1G> C single nucleotide variant Pathogenic rs1555738836 GRCh38 Chromosome 19, 35746418: 35746418
14 PSENEN NM_172341.3(PSENEN): c.62-1G> C single nucleotide variant Pathogenic rs1555738836 GRCh37 Chromosome 19, 36237319: 36237319
15 PSENEN NM_172341.3(PSENEN): c.61+17G> C single nucleotide variant Benign rs10402601 GRCh37 Chromosome 19, 36236909: 36236909
16 PSENEN NM_172341.3(PSENEN): c.61+17G> C single nucleotide variant Benign rs10402601 GRCh38 Chromosome 19, 35746008: 35746008

Expression for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

Search GEO for disease gene expression data for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease.

Pathways for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

GO Terms for Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease

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