ACNINV2
MCID: ACN030
MIFTS: 22

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 57 72 6
Acninv2 57 72
Hidradenitis Suppurativa Familial 72
Acne Inversa, Familial, 2 70
Acne Inversa Familial 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
acne inversa, familial, 2, with or without dowling-degos disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613736
OMIM Phenotypic Series 57 PS142690
MeSH 44 D017497
MedGen 41 C3151037
UMLS 70 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 05-Apr-2021)

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 : 72 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 11.9
2 acne inversa, familial, 1 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent cutaneous abscess formation 31 HP:0100838
2 follicular hyperkeratosis 31 HP:0007502
3 squamous cell carcinoma 31 HP:0002860
4 chronic furunculosis 31 HP:0011132
5 perifolliculitis 31 HP:0012322
6 acne inversa 31 HP:0040154

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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:

40
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 6
28601418 2017
2
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. 57 6
28287404 2017
3
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. 6 57
27900998 2016
4
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa). 57 6
21412258 2011
5
Gamma-secretase gene mutations in familial acne inversa. 6 57
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:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSENEN NM_172341.3(PSENEN):c.66del (p.Phe23Leufs) Deletion Pathogenic 30681 rs1555738837 GRCh37: 19:36237319-36237319
GRCh38: 19:35746418-35746418
2 PSENEN NM_172341.4(PSENEN):c.279del (p.Phe94fs) Deletion Pathogenic 30682 rs1555738943 GRCh37: 19:36237720-36237720
GRCh38: 19:35746819-35746819
3 PSENEN NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) SNV Pathogenic 446484 rs1555738906 GRCh37: 19:36237636-36237636
GRCh38: 19:35746735-35746735
4 PSENEN NM_172341.3(PSENEN):c.66dup (p.Phe23Valfs) Duplication Pathogenic 446482 rs1555738837 GRCh37: 19:36237318-36237319
GRCh38: 19:35746417-35746418
5 PSENEN NM_172341.4(PSENEN):c.167-2A>G SNV Pathogenic 446485 rs1555738903 GRCh37: 19:36237607-36237607
GRCh38: 19:35746706-35746706
6 PSENEN NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) SNV Pathogenic 446483 rs1555738763 GRCh37: 19:36236866-36236866
GRCh38: 19:35745965-35745965
7 PSENEN NM_172341.4(PSENEN):c.62-1G>C SNV Pathogenic 446486 rs1555738836 GRCh37: 19:36237319-36237319
GRCh38: 19:35746418-35746418
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

3 CDC
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10 dbSNP
11 DGIdb
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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