MCID: ACN030
MIFTS: 21

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

Categories: Genetic 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
Acne Inversa, Familial, 2 75 29 13 6 73
Acninv2 57 75
Hidradenitis Suppurativa Familial 75
Acne Inversa, Familial, Type 2 40
Acne Inversa Familial 75

Characteristics:

OMIM:

57
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:

32
acne inversa, familial, 2, with or without dowling-degos disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613736
MedGen 42 C3151037
MeSH 44 D017497
SNOMED-CT via HPO 69 263681008 83341004 59393003
UMLS 73 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)

MalaCards based summary : Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease, also known as acne inversa, familial, 2, 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 chronic furunculosis and perifolliculitis

UniProtKB/Swiss-Prot : 75 Acne inversa, familial, 2: 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.

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 12.7
2 acne inversa, familial, 1 12.7
3 hidradenitis suppurativa 11.2
4 dowling-degos disease 1 10.0
5 malignant atrophic papulosis 10.0
6 dowling-degos disease 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

Symptoms via clinical synopsis from OMIM:

57
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)

Neoplasia:
squamous cell carcinoma (rarely develops in lesional areas)

Skin Nails Hair Skin Histology:
dilated hair follicles
follicular plugging
follicular hyperkeratosis
perifollicular acanthosis
downward elongations of rete ridges in reticulated pattern
more

Clinical features from OMIM:

613736

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

32
# Description HPO Frequency HPO Source Accession
1 chronic furunculosis 32 HP:0011132
2 perifolliculitis 32 HP:0012322
3 acne inversa 32 HP:0040154
4 recurrent cutaneous abscess formation 32 HP:0100838

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

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

# Genetic test Affiliating Genes
1 Acne Inversa, Familial, 2 29 PSENEN

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:

41
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 Year
1
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016

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 GRCh37 Chromosome 19, 36237324: 36237324
2 PSENEN NM_172341.3(PSENEN): c.66delG (p.Phe23Leufs) deletion Pathogenic GRCh38 Chromosome 19, 35746423: 35746423
3 PSENEN NM_172341.3(PSENEN): c.279delC (p.Phe94Serfs) deletion Pathogenic GRCh38 Chromosome 19, 35746820: 35746820
4 PSENEN NM_172341.3(PSENEN): c.279delC (p.Phe94Serfs) deletion Pathogenic GRCh37 Chromosome 19, 36237721: 36237721
5 PSENEN NM_172341.3(PSENEN): c.66dup (p.Phe23Valfs) duplication Pathogenic GRCh38 Chromosome 19, 35746423: 35746423
6 PSENEN NM_172341.3(PSENEN): c.66dup (p.Phe23Valfs) duplication Pathogenic GRCh37 Chromosome 19, 36237324: 36237324
7 PSENEN NM_172341.3(PSENEN): c.35T> A (p.Leu12Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 35745965: 35745965
8 PSENEN NM_172341.3(PSENEN): c.35T> A (p.Leu12Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 36236866: 36236866
9 PSENEN NM_172341.3(PSENEN): c.194T> G (p.Leu65Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 35746735: 35746735
10 PSENEN NM_172341.3(PSENEN): c.194T> G (p.Leu65Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 36237636: 36237636
11 PSENEN NM_172341.3(PSENEN): c.167-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 19, 36237607: 36237607
12 PSENEN NM_172341.3(PSENEN): c.167-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 19, 35746706: 35746706
13 PSENEN NM_172341.3(PSENEN): c.62-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 19, 35746418: 35746418
14 PSENEN NM_172341.3(PSENEN): c.62-1G> C single nucleotide variant Pathogenic 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

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

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