ACNINV3
MCID: ACN016
MIFTS: 23

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 56 73 29 13 6 71
Acninv3 56 73
Hidradenitis Suppurativa Familial 73
Acne Inversa, Familial, Type 3 39
Acne Inversa Familial 73

Characteristics:

OMIM:

56
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:

31
acne inversa, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 613737
OMIM Phenotypic Series 56 PS142690
MeSH 43 D017497
MedGen 41 C3151038
SNOMED-CT via HPO 68 263681008 59393003 83341004
UMLS 71 C3151038

Summaries for Acne Inversa, Familial, 3

OMIM : 56 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 : 73 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:

(showing 10, show less)
# Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 2, with or without dowling-degos disease 13.0
2 acne inversa, familial, 1 12.9
3 hidradenitis suppurativa 11.8
4 neurofibromatosis, type ii 10.1
5 malignant atrophic papulosis 10.1
6 dowling-degos disease 10.1
7 hidradenitis 10.1
8 skin disease 10.1
9 anal canal squamous cell carcinoma 10.1
10 erythrokeratoderma ''en cocardes'' 10.1

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:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 recurrent cutaneous abscess formation 31 HP:0100838
2 chronic furunculosis 31 HP:0011132
3 perifolliculitis 31 HP:0012322
4 acne inversa 31 HP:0040154

Symptoms via clinical synopsis from OMIM:

56
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 29 PSEN1

Anatomical Context for Acne Inversa, Familial, 3

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

40
Skin

Publications for Acne Inversa, Familial, 3

Articles related to Acne Inversa, Familial, 3:

(showing 1, show less)
# Title Authors PMID Year
1
Gamma-secretase gene mutations in familial acne inversa. 56 6
20929727 2010

Variations for Acne Inversa, Familial, 3

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

6 (showing 29, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg)SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
2 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
3 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
4 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
5 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
6 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
7 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
8 PSEN1 NM_000021.4(PSEN1):c.725del (p.Pro242fs)deletion Pathogenic 29606 14:73659526-73659526 14:73192818-73192818
9 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His)SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
10 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
11 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)SNV Pathogenic 98053 rs63750053 14:73659429-73659429 14:73192721-73192721
12 PSEN1 NM_000021.4(PSEN1):c.869-2A>TSNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
13 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)SNV Pathogenic 659639 14:73640282-73640282 14:73173574-73173574
14 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)SNV Pathogenic/Likely pathogenic 98022 rs63751278 14:73640339-73640339 14:73173631-73173631
15 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val)SNV Pathogenic/Likely pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
16 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)SNV Likely pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
17 PSEN1 NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)SNV Likely pathogenic 98065 rs63749836 14:73659494-73659494 14:73192786-73192786
18 PSEN1 NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)SNV Likely pathogenic 663536 14:73659429-73659429 14:73192721-73192721
19 PSEN1 NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)SNV Conflicting interpretations of pathogenicity 98109 rs63750227 14:73683929-73683929 14:73217221-73217221
20 PSEN1 NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)SNV Uncertain significance 665345 14:73640336-73640336 14:73173628-73173628
21 PSEN1 NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)SNV Uncertain significance 657317 14:73659425-73659425 14:73192717-73192717
22 PSEN1 NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)SNV Uncertain significance 648949 14:73659462-73659462 14:73192754-73192754
23 PSEN1 NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)SNV Uncertain significance 645304 14:73673132-73673132 14:73206424-73206424
24 PSEN1 NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)SNV Uncertain significance 643888 14:73678599-73678599 14:73211891-73211891
25 PSEN1 NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)SNV Uncertain significance 650645 14:73685962-73685962 14:73219254-73219254
26 PSEN1 NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp)SNV Uncertain significance 574947 rs1566656647 14:73683852-73683852 14:73217144-73217144
27 PSEN1 NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)SNV Uncertain significance 98048 rs63750155 14:73653612-73653612 14:73186904-73186904
28 PSEN1 NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)SNV Uncertain significance 98004 rs63750592 14:73637521-73637521 14:73170813-73170813
29 PSEN1 NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)SNV Benign/Likely benign 98094 rs17125721 14:73673178-73673178 14:73206470-73206470

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....