Aliases & Classifications for Acne Inversa, Familial, 3

MalaCards integrated aliases for Acne Inversa, Familial, 3:

Name: Acne Inversa, Familial, 3 57 75 29 13 6 73
Acninv3 57 75
Hidradenitis Suppurativa Familial 75
Acne Inversa, Familial, Type 3 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, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613737
MedGen 42 C3151038
MeSH 44 D017497
SNOMED-CT via HPO 69 263681008 83341004 59393003
UMLS 73 C3151038

Summaries for Acne Inversa, Familial, 3

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). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690. (613737)

MalaCards based summary : Acne Inversa, Familial, 3, also known as acninv3, is related to acne inversa, familial, 2, with or without dowling-degos disease and acne inversa, familial, 1. An important gene associated with Acne Inversa, Familial, 3 is PSEN1 (Presenilin 1). Affiliated tissues include skin, and related phenotypes are recurrent cutaneous abscess formation and chronic furunculosis

UniProtKB/Swiss-Prot : 75 Acne inversa, familial, 3: 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, 3

Diseases related to Acne Inversa, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 2, with or without dowling-degos disease 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, 3:



Diseases related to Acne Inversa, Familial, 3

Symptoms & Phenotypes for Acne Inversa, Familial, 3

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)


Clinical features from OMIM:

613737

Human phenotypes related to Acne Inversa, Familial, 3:

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

Drugs & Therapeutics for Acne Inversa, Familial, 3

Search Clinical Trials , NIH Clinical Center for Acne Inversa, Familial, 3

Genetic Tests for Acne Inversa, Familial, 3

Genetic tests related to Acne Inversa, Familial, 3:

# Genetic test Affiliating Genes
1 Acne Inversa, Familial, 3 29 PSEN1

Anatomical Context for Acne Inversa, Familial, 3

MalaCards organs/tissues related to Acne Inversa, Familial, 3:

41
Skin

Publications for Acne Inversa, Familial, 3

Articles related to Acne Inversa, Familial, 3:

# 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, 3

ClinVar genetic disease variations for Acne Inversa, Familial, 3:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh37 Chromosome 14, 73653568: 73653568
2 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh38 Chromosome 14, 73186860: 73186860
3 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh37 Chromosome 14, 73659540: 73659540
4 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh38 Chromosome 14, 73192832: 73192832
5 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh37 Chromosome 14, 73683933: 73683933
6 PSEN1 NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr) single nucleotide variant Pathogenic rs661 GRCh38 Chromosome 14, 73217225: 73217225
7 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh37 Chromosome 14, 73659420: 73659420
8 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh38 Chromosome 14, 73192712: 73192712
9 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh37 Chromosome 14, 73685885: 73685885
10 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh38 Chromosome 14, 73219177: 73219177
11 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh37 Chromosome 14, 73637653: 73637653
12 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh38 Chromosome 14, 73170945: 73170945
13 PSEN1 PSEN1, 1-BP DEL, 725C deletion Pathogenic
14 PSEN1 NM_000021.3(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 GRCh37 Chromosome 14, 73640279: 73640279
15 PSEN1 NM_000021.3(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 GRCh38 Chromosome 14, 73173571: 73173571
16 PSEN1 NM_000021.3(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 GRCh37 Chromosome 14, 73659429: 73659429
17 PSEN1 NM_000021.3(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 GRCh38 Chromosome 14, 73192721: 73192721
18 PSEN1 NM_000021.3(PSEN1): c.-296C> T single nucleotide variant Benign/Likely benign rs1800839 GRCh38 Chromosome 14, 73136423: 73136423
19 PSEN1 NM_000021.3(PSEN1): c.-296C> T single nucleotide variant Benign/Likely benign rs1800839 GRCh37 Chromosome 14, 73603131: 73603131
20 PSEN1 NM_000021.3(PSEN1): c.-528C> G single nucleotide variant Benign rs34086577 GRCh37 Chromosome 14, 73602899: 73602899
21 PSEN1 NM_000021.3(PSEN1): c.-528C> G single nucleotide variant Benign rs34086577 GRCh38 Chromosome 14, 73136191: 73136191

Expression for Acne Inversa, Familial, 3

Search GEO for disease gene expression data for Acne Inversa, Familial, 3.

Pathways for Acne Inversa, Familial, 3

GO Terms for Acne Inversa, Familial, 3

Sources for Acne Inversa, Familial, 3

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