MCID: ACN016

Acne Inversa, Familial, 3 malady

Genetic diseases (common) category
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Summaries for Acne Inversa, Familial, 3

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MalaCards based summary: Acne Inversa, Familial, 3 and has symptoms including An important gene associated with Acne Inversa, Familial, 3 is PSEN1 (presenilin 1). Affiliated tissues include skin.

Description from OMIM:46 613737

Aliases & Classifications for Acne Inversa, Familial, 3

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Acne Inversa, Familial, 3, Aliases & Descriptions:

Name: Acne Inversa, Familial, 3 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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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Anatomical Context for Acne Inversa, Familial, 3

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

32
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1PSEN1PSEN1, 1-BP DEL, 725CdeletionPathogenic

Expression for genes affiliated with Acne Inversa, Familial, 3

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Expression patterns in normal tissues for genes affiliated with Acne Inversa, Familial, 3

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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Products for genes affiliated with Acne Inversa, Familial, 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Acne Inversa, Familial, 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet