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 56 73 13
Hidradenitis Suppurativa, Familial 56 29 71
Familial Acne Inversa 1 29 6
Acninv1 56 73
Hidradenitis Suppurativa Familial 73
Acne Inversa, Familial, Type 1 39
Acne Inversa, Familial 56
Acne Inversa Familial 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
chronic, relapsing condition


HPO:

31
acne inversa, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 142690
OMIM Phenotypic Series 56 PS142690
MeSH 43 D017497
SNOMED-CT via HPO 68 263681008 59393003
UMLS 71 C1840560

Summaries for Acne Inversa, Familial, 1

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 atypical scarring of skin 31 HP:0000987
2 acne inversa 31 HP:0040154

Symptoms via clinical synopsis from OMIM:

56
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:

40
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). 56 6
21412258 2011
2
Gamma-secretase gene mutations in familial acne inversa. 56 6
20929727 2010
3
Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3. 56
16543891 2006
4
Acne inversa (alias hidradenitis suppurativa). 56
11843212 2001
5
Incidence of cancer among patients with hidradenitis suppurativa. 56
11405761 2001
6
The clinical genetics of hidradenitis suppurativa revisited. 56
10809853 2000
7
A family study of hidradenitis suppurativa. 56
2934550 1985
8
Evidence of genetic factors in hidradenitis suppurativa. 56
4015966 1985
9
Familial hidradenitis suppurativa: evidence in favour of single gene transmission. 56
6492093 1984
10
Hidradenitis suppurativa. 56
4864515 1968

Variations for Acne Inversa, Familial, 1

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCSTN NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter)SNV Pathogenic 225419 rs1085307081 1:160324028-160324028 1:160354238-160354238
2 NCSTN NM_015331.3(NCSTN):c.1752del (p.Glu584fs)deletion Pathogenic 30452 rs1553211087 1:160326502-160326502 1:160356712-160356712
3 NCSTN NM_015331.3(NCSTN):c.1551+1G>ASNV Pathogenic 30453 rs1553210984 1:160325749-160325749 1:160355959-160355959
4 NCSTN NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)SNV Pathogenic 30454 rs387906896 1:160319373-160319373 1:160349583-160349583
5 NCSTN NM_015331.3(NCSTN):c.1101+1G>ASNV Pathogenic 446481 rs1347055289 1:160322782-160322782 1:160352992-160352992
6 NCSTN NM_015331.3(NCSTN):c.944C>T (p.Ala315Val)SNV Likely pathogenic 559854 rs1553210405 1:160321944-160321944 1:160352154-160352154

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

73
# 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 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
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