ACNINV2
MCID: ACN030
MIFTS: 22

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:

Name: Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease 57 73 5
Acninv2 57 73
Hidradenitis Suppurativa Familial 73
Acne Inversa, Familial, 2 71
Acne Inversa Familial 73

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:



External Ids:

OMIM® 57 613736
OMIM Phenotypic Series 57 PS142690
MeSH 43 D017497
MedGen 40 C3151037
UMLS 71 C3151037

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

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.

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, 1 11.8
2 acne inversa, familial, 3 11.8
3 hidradenitis suppurativa 11.3

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:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent cutaneous abscess formation 30 HP:0100838
2 squamous cell carcinoma 30 HP:0002860
3 follicular hyperkeratosis 30 HP:0007502
4 chronic furunculosis 30 HP:0011132
5 perifolliculitis 30 HP:0012322
6 acne inversa 30 HP:0040154

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

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

MalaCards : Skin
ODiseA: Skin

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

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

# Title Authors PMID Year
1
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype? 57 5
28601418 2017
2
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. 57 5
28287404 2017
3
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. 57 5
27900998 2016
4
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa). 57 5
21412258 2011
5
Gamma-secretase gene mutations in familial acne inversa. 57 5
20929727 2010

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:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSENEN NM_172341.4(PSENEN):c.279del (p.Phe94fs) DEL Pathogenic
30682 rs1555738943 GRCh37: 19:36237720-36237720
GRCh38: 19:35746819-35746819
2 PSENEN NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) SNV Pathogenic
446484 rs1555738906 GRCh37: 19:36237636-36237636
GRCh38: 19:35746735-35746735
3 PSENEN NM_172341.4(PSENEN):c.167-2A>G SNV Pathogenic
446485 rs1555738903 GRCh37: 19:36237607-36237607
GRCh38: 19:35746706-35746706
4 PSENEN NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) SNV Pathogenic
446483 rs1555738763 GRCh37: 19:36236866-36236866
GRCh38: 19:35745965-35745965
5 PSENEN NM_172341.4(PSENEN):c.62-1G>C SNV Pathogenic
446486 rs1555738836 GRCh37: 19:36237319-36237319
GRCh38: 19:35746418-35746418
6 PSENEN NM_172341.3(PSENEN):c.66del DEL Pathogenic
30681 rs1555738837 GRCh37: 19:36237319-36237319
GRCh38: 19:35746418-35746418
7 PSENEN NM_172341.3(PSENEN):c.66dup DUP Pathogenic
446482 rs1555738837 GRCh37: 19:36237318-36237319
GRCh38: 19:35746417-35746418
8 PSENEN NM_172341.4(PSENEN):c.61+17G>C SNV Benign
518298 rs10402601 GRCh37: 19:36236909-36236909
GRCh38: 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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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