ACNINV3
MCID: ACN016
MIFTS: 19

Acne Inversa, Familial, 3 (ACNINV3) malady

Categories: Genetic diseases

Aliases & Classifications for Acne Inversa, Familial, 3

Aliases & Descriptions for Acne Inversa, Familial, 3:

Name: Acne Inversa, Familial, 3 54 24 66 29 13 69
Hidradenitis Suppurativa Familial 66
Acne Inversa Familial 66
Acninv3 66

Characteristics:

HPO:

32
acne inversa, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613737
MedGen 40 C3151038
MeSH 42 D017497

Summaries for Acne Inversa, Familial, 3

OMIM : 54 Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining... (613737) more...

MalaCards based summary : Acne Inversa, Familial, 3, also known as hidradenitis suppurativa familial, is related to acne inversa, familial, 1 and acne inversa, familial, 2, and has symptoms including recurrent cutaneous abscess formation, chronic furunculosis and acne inversa. An important gene associated with Acne Inversa, Familial, 3 is PSEN1 (Presenilin 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 Acne inversa, familial, 3: 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, 3

Diseases related to Acne Inversa, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 1 12.5
2 acne inversa, familial, 2 12.5
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, 3:



Diseases related to Acne Inversa, Familial, 3

Symptoms & Phenotypes for Acne Inversa, Familial, 3

Symptoms by clinical synopsis from OMIM:

613737

Clinical features from OMIM:

613737

Human phenotypes related to Acne Inversa, Familial, 3:

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

Drugs & Therapeutics for Acne Inversa, Familial, 3

Search Clinical Trials , NIH Clinical Center for Acne Inversa, Familial, 3

Genetic Tests for Acne Inversa, Familial, 3

Genetic tests related to Acne Inversa, Familial, 3:

id Genetic test Affiliating Genes
1 Acne Inversa, Familial, 3 29 24 PSEN1

Anatomical Context for Acne Inversa, Familial, 3

MalaCards organs/tissues related to Acne Inversa, Familial, 3:

39
Skin

Publications for Acne Inversa, Familial, 3

Variations for Acne Inversa, Familial, 3

ClinVar genetic disease variations for Acne Inversa, Familial, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PSEN1 PSEN1, 1-BP DEL, 725C deletion Pathogenic

Expression for Acne Inversa, Familial, 3

Search GEO for disease gene expression data for Acne Inversa, Familial, 3.

Pathways for Acne Inversa, Familial, 3

GO Terms for Acne Inversa, Familial, 3

Sources for Acne Inversa, Familial, 3

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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