ACNINV1
MCID: ACN018
MIFTS: 22

Acne Inversa, Familial, 1 (ACNINV1)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Acne Inversa, Familial, 1

MalaCards integrated aliases for Acne Inversa, Familial, 1:

Name: Acne Inversa, Familial, 1 58 76 13
Hidradenitis Suppurativa, Familial 58 30 74
Familial Acne Inversa 1 30 6
Acninv1 58 76
Hidradenitis Suppurativa Familial 76
Acne Inversa, Familial, Type 1 41
Acne Inversa, Familial 58
Acne Inversa Familial 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
chronic, relapsing condition


HPO:

33
acne inversa, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 142690
MeSH 45 D017497
SNOMED-CT via HPO 70 263681008 59393003
UMLS 74 C1840560

Summaries for Acne Inversa, Familial, 1

OMIM : 58 Acne inversa is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring (summary by Jansen et al., 2001). Jansen et al. (2001) provided a detailed history and review of the disorder. (142690)

MalaCards based summary : Acne Inversa, Familial, 1, also known as hidradenitis suppurativa, familial, is related to acne inversa, familial, 3 and acne inversa, familial, 2, with or without dowling-degos disease. An important gene associated with Acne Inversa, Familial, 1 is NCSTN (Nicastrin). Affiliated tissues include skin, and related phenotypes are atypical scarring of skin and acne inversa

UniProtKB/Swiss-Prot : 76 Acne inversa, familial, 1: 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, 1

Diseases in the Acne Inversa, Familial, 1 family:

Acne Inversa, Familial, 3

Diseases related to Acne Inversa, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 3 12.8
2 acne inversa, familial, 2, with or without dowling-degos disease 12.7
3 hidradenitis suppurativa 11.4
4 dowling-degos disease 1 10.1
5 malignant atrophic papulosis 10.1
6 dowling-degos disease 10.1
7 hidradenitis 10.0

Graphical network of the top 20 diseases related to Acne Inversa, Familial, 1:



Diseases related to Acne Inversa, Familial, 1

Symptoms & Phenotypes for Acne Inversa, Familial, 1

Human phenotypes related to Acne Inversa, Familial, 1:

33
# Description HPO Frequency HPO Source Accession
1 atypical scarring of skin 33 HP:0000987
2 acne inversa 33 HP:0040154

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
abscesses (in skin folds that carry terminal hairs and apocrine glands including axillae, groin, anal fold, mons pubis, and scalp, but not face)
nodules
draining sinuses (late complication)
fistula formation (late complication)
scarring (late complication)
more
Skin Nails Hair Skin Histology:
segmental rupture of the follicular epithelium
foreign material, such as corneocytes, bacteria, sebum products, and hair accumulated in the dermis
occluding spongiform infundibulofolliculitis
inflammation
foreign body granulomas
more

Clinical features from OMIM:

142690

Drugs & Therapeutics for Acne Inversa, Familial, 1

Search Clinical Trials , NIH Clinical Center for Acne Inversa, Familial, 1

Genetic Tests for Acne Inversa, Familial, 1

Genetic tests related to Acne Inversa, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Acne Inversa 1 30
2 Hidradenitis Suppurativa, Familial 30

Anatomical Context for Acne Inversa, Familial, 1

MalaCards organs/tissues related to Acne Inversa, Familial, 1:

42
Skin

Publications for Acne Inversa, Familial, 1

Variations for Acne Inversa, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Acne Inversa, Familial, 1:

76
# Symbol AA change Variation ID SNP ID
1 NCSTN p.Pro211Arg VAR_067756

ClinVar genetic disease variations for Acne Inversa, Familial, 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCSTN NM_015331.2(NCSTN): c.1752delG (p.Glu584Aspfs) deletion Pathogenic rs1553211087 GRCh38 Chromosome 1, 160356712: 160356712
2 NCSTN NM_015331.2(NCSTN): c.1752delG (p.Glu584Aspfs) deletion Pathogenic rs1553211087 GRCh37 Chromosome 1, 160326502: 160326502
3 NCSTN NM_015331.2(NCSTN): c.1551+1G> A single nucleotide variant Pathogenic rs1553210984 GRCh37 Chromosome 1, 160325749: 160325749
4 NCSTN NM_015331.2(NCSTN): c.1551+1G> A single nucleotide variant Pathogenic rs1553210984 GRCh38 Chromosome 1, 160355959: 160355959
5 NCSTN NM_015331.2(NCSTN): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs387906896 GRCh37 Chromosome 1, 160319373: 160319373
6 NCSTN NM_015331.2(NCSTN): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs387906896 GRCh38 Chromosome 1, 160349583: 160349583
7 NCSTN NM_015331.2(NCSTN): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs1085307081 GRCh37 Chromosome 1, 160324028: 160324028
8 NCSTN NM_015331.2(NCSTN): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs1085307081 GRCh38 Chromosome 1, 160354238: 160354238
9 NCSTN NM_015331.2(NCSTN): c.1101+1G> A single nucleotide variant Pathogenic rs1347055289 GRCh37 Chromosome 1, 160322782: 160322782
10 NCSTN NM_015331.2(NCSTN): c.1101+1G> A single nucleotide variant Pathogenic rs1347055289 GRCh38 Chromosome 1, 160352992: 160352992
11 NCSTN NM_015331.2(NCSTN): c.944C> T (p.Ala315Val) single nucleotide variant Likely pathogenic rs1553210405 GRCh37 Chromosome 1, 160321944: 160321944
12 NCSTN NM_015331.2(NCSTN): c.944C> T (p.Ala315Val) single nucleotide variant Likely pathogenic rs1553210405 GRCh38 Chromosome 1, 160352154: 160352154

Expression for Acne Inversa, Familial, 1

Search GEO for disease gene expression data for Acne Inversa, Familial, 1.

Pathways for Acne Inversa, Familial, 1

GO Terms for Acne Inversa, Familial, 1

Sources for Acne Inversa, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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