MCID: ACN018
MIFTS: 20

Acne Inversa, Familial, 1

Categories: Genetic diseases

Aliases & Classifications for Acne Inversa, Familial, 1

MalaCards integrated aliases for Acne Inversa, Familial, 1:

Name: Acne Inversa, Familial, 1 54 71 13
Hidradenitis Suppurativa, Familial 29 69
Hidradenitis Suppurativa Familial 71
Familial Acne Inversa 1 29
Acne Inversa Familial 71
Acninv1 71

Characteristics:

OMIM:

54
Miscellaneous:
chronic, relapsing condition

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 142690
MedGen 40 C1840560
MeSH 42 D017497
SNOMED-CT via HPO 65 263681008 59393003

Summaries for Acne Inversa, Familial, 1

OMIM : 54
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, 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:

id Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 3 12.5
2 acne inversa, familial, 2 12.4
3 hidradenitis suppurativa 11.1
4 acne 9.9
5 dowling-degos disease 9.9

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:

54

Skin Nails & Hair- Skin Histology:
apocrine glands are secondarily involved
necrotic tissue encapsulated by epithelial strands
foreign body granulomas
inflammation
occluding spongiform infundibulofolliculitis
more
Skin Nails & Hair- Skin:
dermal contractures (late complication)
fistula formation (late complication)
scarring (late complication)
draining sinuses (late complication)
nodules
more

Clinical features from OMIM:

142690

Human phenotypes related to Acne Inversa, Familial, 1:

32
id 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:

id Genetic test Affiliating Genes
1 Familial Acne Inversa 1 29
2 Hidradenitis Suppurativa, Familial 29

Anatomical Context for Acne Inversa, Familial, 1

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

39
Skin

Publications for Acne Inversa, Familial, 1

Variations for Acne Inversa, Familial, 1

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

71
id Symbol AA change Variation ID SNP ID
1 NCSTN p.Pro211Arg VAR_067756

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NCSTN NCSTN, 1-BP DEL, 1752G deletion Pathogenic
2 NCSTN NCSTN, IVS13, G-A, +1 single nucleotide variant Pathogenic
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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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