Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 613736

MeSH ⁴⁵ D017497

MedGen ⁴³ C3151037

SNOMED-CT via HPO ⁷⁰ 238629004 263681008 34101000119105 more

UMLS ⁷⁴ C3151037

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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.

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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
1	acne inversa, familial, 3	12.8
2	acne inversa, familial, 1	12.8
3	hidradenitis suppurativa	11.7
4	neurofibromatosis, type ii	10.1
5	dowling-degos disease 1	10.1
6	malignant atrophic papulosis	10.1
7	dowling-degos disease	10.1
8	hidradenitis	10.0

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

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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 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

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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

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

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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

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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	Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. ( 28287404 )	Ralser DJ...Betz RC	2017
2	PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype? ( 28601418 )	Li C...Wang B	2017
3	Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )	Zhou C...Zhang JZ	2016
4	PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa). ( 21412258 )	Pink AE...Trembath RC	2011
5	Gamma-secretase gene mutations in familial acne inversa. ( 20929727 )	Wang B...Zhang X	2010

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

Genes related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	919.07	Molecular basis known ⁵⁸ Pathogenic ⁶ GeneCards inferred via : Disorders (show sections)	20929727 28601418 27900998 (more) 21412258 28287404

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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

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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.

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

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

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

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

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:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Acne Inversa, Familial, 2, with or Without 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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

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:

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

Genes related to Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease (1 elite genes):

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:

Expression 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