ACNINV1
MCID: ACN018
MIFTS: 26

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 57 74 13
Hidradenitis Suppurativa, Familial 57 29 72
Familial Acne Inversa 1 29 6
Acninv1 57 74
Hidradenitis Suppurativa Familial 74
Acne Inversa, Familial, Type 1 40
Acne Inversa, Familial 57
Acne Inversa Familial 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
chronic, relapsing condition


HPO:

32
acne inversa, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D017497
UMLS 72 C1840560

Summaries for Acne Inversa, Familial, 1

OMIM : 57 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, 2, with or without dowling-degos disease and acne inversa, familial, 3. 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 : 74 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, 2, with or without dowling-degos disease 13.0
2 acne inversa, familial, 3 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, 1:



Diseases related to Acne Inversa, Familial, 1

Symptoms & Phenotypes for Acne Inversa, Familial, 1

Human phenotypes related to Acne Inversa, Familial, 1:

32
# Description HPO Frequency HPO Source Accession
1 atypical scarring of skin 32 HP:0000987
2 acne inversa 32 HP:0040154

Symptoms via clinical synopsis from OMIM:

57
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 29 NCSTN
2 Hidradenitis Suppurativa, Familial 29

Anatomical Context for Acne Inversa, Familial, 1

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

41
Skin

Publications for Acne Inversa, Familial, 1

Articles related to Acne Inversa, Familial, 1:

# Title Authors PMID Year
1
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa). 8 71
21412258 2011
2
Gamma-secretase gene mutations in familial acne inversa. 8 71
20929727 2010
3
Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3. 8
16543891 2006
4
Acne inversa (alias hidradenitis suppurativa). 8
11843212 2001
5
Incidence of cancer among patients with hidradenitis suppurativa. 8
11405761 2001
6
The clinical genetics of hidradenitis suppurativa revisited. 8
10809853 2000
7
A family study of hidradenitis suppurativa. 8
2934550 1985
8
Evidence of genetic factors in hidradenitis suppurativa. 8
4015966 1985
9
Familial hidradenitis suppurativa: evidence in favour of single gene transmission. 8
6492093 1984
10
Hidradenitis suppurativa. 8
4864515 1968

Variations for Acne Inversa, Familial, 1

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NCSTN NM_015331.3(NCSTN): c.1752del (p.Glu584fs) deletion Pathogenic rs1553211087 1:160326502-160326502 1:160356712-160356712
2 NCSTN NM_015331.3(NCSTN): c.1551+1G> A single nucleotide variant Pathogenic rs1553210984 1:160325749-160325749 1:160355959-160355959
3 NCSTN NM_015331.3(NCSTN): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs387906896 1:160319373-160319373 1:160349583-160349583
4 NCSTN NM_015331.3(NCSTN): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs1085307081 1:160324028-160324028 1:160354238-160354238
5 NCSTN NM_015331.3(NCSTN): c.1101+1G> A single nucleotide variant Pathogenic rs1347055289 1:160322782-160322782 1:160352992-160352992
6 NCSTN NM_015331.3(NCSTN): c.944C> T (p.Ala315Val) single nucleotide variant Likely pathogenic rs1553210405 1:160321944-160321944 1:160352154-160352154

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

74
# Symbol AA change Variation ID SNP ID
1 NCSTN p.Pro211Arg VAR_067756

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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