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 52 24 70 27 12 68
Hidradenitis Suppurativa Familial 70
 
Acne Inversa Familial 70
Acninv3 70

Classifications:



External Ids:

OMIM52 613737
MedGen37 C3151038
MeSH39 D017497

Summaries for Acne Inversa, Familial, 3

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OMIM:52 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:70 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
3acne9.9

Symptoms & Phenotypes for Acne Inversa, Familial, 3

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Symptoms by clinical synopsis from OMIM:

613737

Clinical features from OMIM:

613737

Human phenotypes related to Acne Inversa, Familial, 3:

 64
id Description HPO Frequency HPO Source Accession
1 chronic furunculosis64 HP:0011132
2 perifolliculitis64 HP:0012322
3 acne inversa64 HP:0040154
4 recurrent cutaneous abscess formation64 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, 327 24 PSEN1

Anatomical Context for Acne Inversa, Familial, 3

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

36
Skin

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, 725CdeletionPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet