ACNINV3
MCID: ACN016
MIFTS: 19

Acne Inversa, Familial, 3 (ACNINV3)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Acne Inversa, Familial, 3

MalaCards integrated aliases for Acne Inversa, Familial, 3:

Name: Acne Inversa, Familial, 3 58 76 30 13 6 74
Acninv3 58 76
Hidradenitis Suppurativa Familial 76
Acne Inversa, Familial, Type 3 41
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, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613737
MeSH 45 D017497
MedGen 43 C3151038
UMLS 74 C3151038

Summaries for Acne Inversa, Familial, 3

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). 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 : 76 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 in the Acne Inversa, Familial, 1 family:

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 12.8
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, 3:



Diseases related to Acne Inversa, Familial, 3

Symptoms & Phenotypes for Acne Inversa, Familial, 3

Human phenotypes related to Acne Inversa, Familial, 3:

33
# Description HPO Frequency HPO Source Accession
1 recurrent cutaneous abscess formation 33 HP:0100838
2 chronic furunculosis 33 HP:0011132
3 perifolliculitis 33 HP:0012322
4 acne inversa 33 HP:0040154

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
acne inversa (predominantly affecting armpit, groin, inner thigh, perianal and perineal, submammary, and buttock regions)

Clinical features from OMIM:

613737

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 30 PSEN1

Anatomical Context for Acne Inversa, Familial, 3

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

42
Skin

Publications for Acne Inversa, Familial, 3

Articles related to Acne Inversa, Familial, 3:

# Title Authors Year
1
Gamma-secretase gene mutations in familial acne inversa. ( 20929727 )
2010

Variations for Acne Inversa, Familial, 3

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

6 (show all 39)
# 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.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh37 Chromosome 14, 73664808: 73664808
8 PSEN1 NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala) single nucleotide variant Pathogenic rs63750231 GRCh38 Chromosome 14, 73198100: 73198100
9 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 GRCh37 Chromosome 14, 73685869: 73685869
10 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 GRCh38 Chromosome 14, 73219161: 73219161
11 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh37 Chromosome 14, 73659420: 73659420
12 PSEN1 NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala) single nucleotide variant Pathogenic rs63750082 GRCh38 Chromosome 14, 73192712: 73192712
13 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh37 Chromosome 14, 73685885: 73685885
14 PSEN1 NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu) single nucleotide variant Pathogenic rs63750083 GRCh38 Chromosome 14, 73219177: 73219177
15 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh37 Chromosome 14, 73637653: 73637653
16 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh38 Chromosome 14, 73170945: 73170945
17 PSEN1 PSEN1, 1-BP DEL, 725C deletion Pathogenic
18 PSEN1 NM_000021.3(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 GRCh37 Chromosome 14, 73664775: 73664775
19 PSEN1 NM_000021.3(PSEN1): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic rs63750900 GRCh38 Chromosome 14, 73198067: 73198067
20 PSEN1 NM_000021.3(PSEN1): c.104G> A (p.Arg35Gln) single nucleotide variant Uncertain significance rs63750592 GRCh37 Chromosome 14, 73637521: 73637521
21 PSEN1 NM_000021.3(PSEN1): c.104G> A (p.Arg35Gln) single nucleotide variant Uncertain significance rs63750592 GRCh38 Chromosome 14, 73170813: 73170813
22 PSEN1 NM_000021.3(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 GRCh37 Chromosome 14, 73640279: 73640279
23 PSEN1 NM_000021.3(PSEN1): c.344A> G (p.Tyr115Cys) single nucleotide variant Pathogenic rs63750450 GRCh38 Chromosome 14, 73173571: 73173571
24 PSEN1 NM_000021.3(PSEN1): c.532T> C (p.Ser178Pro) single nucleotide variant Uncertain significance rs63750155 GRCh37 Chromosome 14, 73653612: 73653612
25 PSEN1 NM_000021.3(PSEN1): c.532T> C (p.Ser178Pro) single nucleotide variant Uncertain significance rs63750155 GRCh38 Chromosome 14, 73186904: 73186904
26 PSEN1 NM_000021.3(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 GRCh37 Chromosome 14, 73659429: 73659429
27 PSEN1 NM_000021.3(PSEN1): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs63750053 GRCh38 Chromosome 14, 73192721: 73192721
28 PSEN1 NM_000021.3(PSEN1): c.691G> A (p.Ala231Thr) single nucleotide variant Likely pathogenic rs63749836 GRCh37 Chromosome 14, 73659494: 73659494
29 PSEN1 NM_000021.3(PSEN1): c.691G> A (p.Ala231Thr) single nucleotide variant Likely pathogenic rs63749836 GRCh38 Chromosome 14, 73192786: 73192786
30 PSEN1 NM_000021.3(PSEN1): c.953A> G (p.Glu318Gly) single nucleotide variant Benign/Likely benign rs17125721 GRCh37 Chromosome 14, 73673178: 73673178
31 PSEN1 NM_000021.3(PSEN1): c.953A> G (p.Glu318Gly) single nucleotide variant Benign/Likely benign rs17125721 GRCh38 Chromosome 14, 73206470: 73206470
32 PSEN1 NM_000021.3(PSEN1): c.-296C> T single nucleotide variant Benign/Likely benign rs1800839 GRCh37 Chromosome 14, 73603131: 73603131
33 PSEN1 NM_000021.3(PSEN1): c.-296C> T single nucleotide variant Benign/Likely benign rs1800839 GRCh38 Chromosome 14, 73136423: 73136423
34 PSEN1 NM_000021.3(PSEN1): c.-528C> G single nucleotide variant Benign rs34086577 GRCh37 Chromosome 14, 73602899: 73602899
35 PSEN1 NM_000021.3(PSEN1): c.-528C> G single nucleotide variant Benign rs34086577 GRCh38 Chromosome 14, 73136191: 73136191
36 PSEN1 NM_000021.3(PSEN1): c.869-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome 14, 73673092: 73673092
37 PSEN1 NM_000021.3(PSEN1): c.869-2A> T single nucleotide variant Pathogenic GRCh38 Chromosome 14, 73206384: 73206384
38 PSEN1 NM_000021.3(PSEN1): c.1148T> G (p.Leu383Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 73683852: 73683852
39 PSEN1 NM_000021.3(PSEN1): c.1148T> G (p.Leu383Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 73217144: 73217144

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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