MCID: ACN016
MIFTS: 12

Acne Inversa, Familial, 3 malady

Genetic diseases (common) category

Aliases & Classifications for Acne Inversa, Familial, 3

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Aliases & Descriptions for Acne Inversa, Familial, 3:

Name: Acne Inversa, Familial, 3 46 9 22


Classifications:



External Ids:

OMIM46 613737

Summaries for Acne Inversa, Familial, 3

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OMIM:46 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 and has symptoms including chronic furunculosis, perifolliculitis and recurrent cutaneous abscess formation. An important gene associated with Acne Inversa, Familial, 3 is PSEN1 (presenilin 1). Affiliated tissues include skin.

Related Diseases for Acne Inversa, Familial, 3

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Symptoms for Acne Inversa, Familial, 3

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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 recurrent cutaneous abscess formation HP:0100838

Drugs & Therapeutics for Acne Inversa, Familial, 3

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Drug clinical trials:

Search ClinicalTrials for Acne Inversa, Familial, 3

Search 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, 322

Anatomical Context for Acne Inversa, Familial, 3

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

31
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet