Aliases & Classifications for Acne Inversa, Familial, 1

MalaCards integrated aliases for Acne Inversa, Familial, 1:

Name: Acne Inversa, Familial, 1 57 75 13
Hidradenitis Suppurativa, Familial 57 29 73
Familial Acne Inversa 1 29 6
Acninv1 57 75
Hidradenitis Suppurativa Familial 75
Acne Inversa, Familial, Type 1 40
Acne Inversa, Familial 57
Acne Inversa Familial 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
chronic, relapsing condition


HPO:

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


Classifications:



External Ids:

OMIM 57 142690
MedGen 42 C1840560
MeSH 44 D017497
SNOMED-CT via HPO 69 263681008 59393003
UMLS 73 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 : 75 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 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 12.7
2 acne inversa, familial, 3 12.7
3 hidradenitis suppurativa 11.2
4 dowling-degos disease 1 10.0
5 malignant atrophic papulosis 10.0
6 dowling-degos disease 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

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

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

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 Year
1
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016

Variations for Acne Inversa, Familial, 1

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

75
# Symbol AA change Variation ID SNP ID
1 NCSTN p.Pro211Arg VAR_067756

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NCSTN NM_015331.2(NCSTN): c.1752delG (p.Glu584Aspfs) deletion Pathogenic GRCh38 Chromosome 1, 160356712: 160356712
2 NCSTN NM_015331.2(NCSTN): c.1752delG (p.Glu584Aspfs) deletion Pathogenic GRCh37 Chromosome 1, 160326502: 160326502
3 NCSTN NM_015331.2(NCSTN): c.1551+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 160325749: 160325749
4 NCSTN NM_015331.2(NCSTN): c.1551+1G> A single nucleotide variant Pathogenic 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 GRCh37 Chromosome 1, 160322782: 160322782
10 NCSTN NM_015331.2(NCSTN): c.1101+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 160352992: 160352992

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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