Aliases & Classifications for Acne Inversa, Familial, 1

MalaCards integrated aliases for Acne Inversa, Familial, 1:

Name: Acne Inversa, Familial, 1 53 71 13
Hidradenitis Suppurativa, Familial 53 28 69
Acninv1 53 71
Hidradenitis Suppurativa Familial 71
Familial Acne Inversa 1 28
Acne Inversa, Familial 53
Acne Inversa Familial 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
chronic, relapsing condition


HPO:

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


Classifications:



External Ids:

OMIM 53 142690
MedGen 39 C1840560
MeSH 41 D017497
SNOMED-CT via HPO 65 263681008 59393003
UMLS 69 C1840560

Summaries for Acne Inversa, Familial, 1

OMIM : 53 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, and has symptoms including atypical scarring of skin and acne inversa. An important gene associated with Acne Inversa, Familial, 1 is NCSTN (Nicastrin). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 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 10.1
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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 atypical scarring of skin 31 HP:0000987
2 acne inversa 31 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 28 NCSTN
2 Hidradenitis Suppurativa, Familial 28

Anatomical Context for Acne Inversa, Familial, 1

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

38
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:

71
# 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.1551+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 160325749: 160325749
3 NCSTN NM_015331.2(NCSTN): c.349C> T (p.Arg117Ter) single nucleotide variant Pathogenic rs387906896 GRCh37 Chromosome 1, 160319373: 160319373
4 NCSTN NM_015331.2(NCSTN): c.1300C> T (p.Arg434Ter) single nucleotide variant Pathogenic rs1085307081 GRCh37 Chromosome 1, 160324028: 160324028
5 NCSTN NM_015331.2(NCSTN): c.1101+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 160322782: 160322782

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....