MCID: ACN017
MIFTS: 18

Acne Inversa, Familial, 2

Categories: Genetic diseases

Aliases & Classifications for Acne Inversa, Familial, 2

MalaCards integrated aliases for Acne Inversa, Familial, 2:

Name: Acne Inversa, Familial, 2 54 71 29 13 69
Hidradenitis Suppurativa Familial 71
Acne Inversa Familial 71
Acninv2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
marked variability in severity of the skin lesions
males more frequently have severe lesions
skin lesions on back, face, nape of neck, and waist tend to be mild


HPO:

32
acne inversa, familial, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613736
MedGen 40 C3151037
MeSH 42 D017497
SNOMED-CT via HPO 65 263681008 83341004 59393003

Summaries for Acne Inversa, Familial, 2

OMIM : 54
Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see 142690. (613736)

MalaCards based summary : Acne Inversa, Familial, 2, also known as hidradenitis suppurativa familial, is related to acne inversa, familial, 3 and acne inversa, familial, 1, and has symptoms including chronic furunculosis, perifolliculitis and acne inversa. An important gene associated with Acne Inversa, Familial, 2 is PSENEN (Presenilin Enhancer Gamma-Secretase Subunit). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Acne inversa, familial, 2: 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, 2

Diseases related to Acne Inversa, Familial, 2 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, 1 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, 2:



Diseases related to Acne Inversa, Familial, 2

Symptoms & Phenotypes for Acne Inversa, Familial, 2

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
acne inverse (predominantly affecting armpit, groin, inner thigh, perianal and perineal, submammary, and buttock regions)


Clinical features from OMIM:

613736

Human phenotypes related to Acne Inversa, Familial, 2:

32
id Description HPO Frequency HPO Source Accession
1 chronic furunculosis 32 HP:0011132
2 perifolliculitis 32 HP:0012322
3 acne inversa 32 HP:0040154
4 recurrent cutaneous abscess formation 32 HP:0100838

Drugs & Therapeutics for Acne Inversa, Familial, 2

Search Clinical Trials , NIH Clinical Center for Acne Inversa, Familial, 2

Genetic Tests for Acne Inversa, Familial, 2

Genetic tests related to Acne Inversa, Familial, 2:

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

Anatomical Context for Acne Inversa, Familial, 2

MalaCards organs/tissues related to Acne Inversa, Familial, 2:

39
Skin

Publications for Acne Inversa, Familial, 2

Variations for Acne Inversa, Familial, 2

ClinVar genetic disease variations for Acne Inversa, Familial, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PSENEN PSENEN, 1-BP DEL, 66G deletion Pathogenic
2 PSENEN PSENEN, 1-BP DEL, 279C deletion Pathogenic

Expression for Acne Inversa, Familial, 2

Search GEO for disease gene expression data for Acne Inversa, Familial, 2.

Pathways for Acne Inversa, Familial, 2

GO Terms for Acne Inversa, Familial, 2

Sources for Acne Inversa, Familial, 2

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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