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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613736

MedGen ⁴² C3151037

MeSH ⁴⁴ D017497

SNOMED-CT via HPO ⁶⁹ 263681008 83341004 59393003

UMLS ⁷³ C3151037

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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.

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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	12.7
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:

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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 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

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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

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

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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:

⁴¹

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	Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )	Zhou C....Zhang J.Z.	2016

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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	1000	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹	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		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

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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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