MCID: ACN016
MIFTS: 14

Acne Inversa, Familial, 3 malady

Genetic diseases (common) category

Summaries for Acne Inversa, Familial, 3

About this section


OMIM:47 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.

Aliases & Classifications for Acne Inversa, Familial, 3

About this section

Acne Inversa, Familial, 3, Aliases & Descriptions:

Name: Acne Inversa, Familial, 3 47 11 24


Classifications:

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


External Ids:

OMIM47 613737

Related Diseases for Acne Inversa, Familial, 3

About this section

Symptoms for Acne Inversa, Familial, 3

About this section


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

About this section

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

About this section

Genetic tests related to Acne Inversa, Familial, 3:

id Genetic test Affiliating Genes
1 Acne Inversa, Familial, 324

Anatomical Context for Acne Inversa, Familial, 3

About this section

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

33
Skin

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

About this section

Publications for Acne Inversa, Familial, 3

About this section

Variations for Acne Inversa, Familial, 3

About this section

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

7
id Gene Variation Type Significance SNP ID Assembly Location
1PSEN1PSEN1, 1-BP DEL, 725CdeletionPathogenic

Expression for genes affiliated with Acne Inversa, Familial, 3

About this section

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

Pathways for genes affiliated with Acne Inversa, Familial, 3

About this section

Compounds for genes affiliated with Acne Inversa, Familial, 3

About this section

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

About this section

Products for genes affiliated with Acne Inversa, Familial, 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acne Inversa, Familial, 3

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet