MCID: ACN016
MIFTS: 17

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 49 11 67 24 65
Hidradenitis Suppurativa Familial 67
 
Acne Inversa Familial 67
Acninv3 67

Classifications:



External Ids:

OMIM49 613737
MedGen34 C3151038
MeSH36 D017497
UMLS65 C3151038

Summaries for Acne Inversa, Familial, 3

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OMIM:49 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, 2 and acne inversa, familial, 1, 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:67 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, 212.5
2acne inversa, familial, 112.5
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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Anatomical Context for Acne Inversa, Familial, 3

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

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet