MCID: ACN016
MIFTS: 19

Acne Inversa, Familial, 3 malady

Category: Genetic diseases (common)

Aliases & Classifications for Acne Inversa, Familial, 3

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Aliases & Descriptions for Acne Inversa, Familial, 3:

Name: Acne Inversa, Familial, 3 50 68 25 12
Hidradenitis Suppurativa Familial 68
 
Acne Inversa Familial 68
Acninv3 68

Classifications:



External Ids:

OMIM50 613737
MedGen35 C3151038
MeSH37 D017497

Summaries for Acne Inversa, Familial, 3

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OMIM:50 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 chronic furunculosis, perifolliculitis and acne inversa. An important gene associated with Acne Inversa, Familial, 3 is PSEN1 (Presenilin 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:68 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

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

idRelated DiseaseScoreTop Affiliating Genes
1acne inversa, familial, 112.5
2acne inversa, familial, 212.5
3hidradenitis suppurativa11.2

Symptoms for Acne Inversa, Familial, 3

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Symptoms by clinical synopsis from OMIM:

613737

Clinical features from OMIM:

613737

HPO human phenotypes related to Acne Inversa, Familial, 3:

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

Drugs & Therapeutics for Acne Inversa, Familial, 3

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Interventional clinical trials:

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

Genetic Tests for Acne Inversa, Familial, 3

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Genetic tests related to Acne Inversa, Familial, 3:

id Genetic test Affiliating Genes
1 Acne Inversa, Familial, 325

Anatomical Context for Acne Inversa, Familial, 3

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

34
Skin

Animal Models for Acne Inversa, Familial, 3 or affiliated genes

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Publications for Acne Inversa, Familial, 3

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Variations for Acne Inversa, Familial, 3

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSEN1PSEN1, 1-BP DEL, 725CdeletionPathogenic

Expression for genes affiliated with Acne Inversa, Familial, 3

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

Pathways for genes affiliated with Acne Inversa, Familial, 3

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GO Terms for genes affiliated with Acne Inversa, Familial, 3

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Sources for Acne Inversa, Familial, 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet