MCID: STT007
MIFTS: 40

Steatocystoma Multiplex malady

Skin diseases category

Summaries for Steatocystoma Multiplex

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. the cysts may become inflamed and cause scarring when they heal. the condition is thought to be caused by mutations in the krt17 gene and appears to be inherited in an autosomal dominant manner. some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation. last updated: 6/6/2012

MalaCards: Steatocystoma Multiplex, also known as multiple sebaceous cysts, is related to pachyonychia congenita and keratoacanthoma, and has symptoms including skin tumors/lumps/epidermal cysts, adenoma sebaceum and autosomal dominant inheritance. An important gene associated with Steatocystoma Multiplex is KRT17 (keratin 17), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compounds hematoxylin and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related mouse phenotype craniofacial.

Genetics Home Reference:21 Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.

Wikipedia:63 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:46 184500

Aliases & Classifications for Steatocystoma Multiplex

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
steatocystoma multiplex:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

steatocystoma multiplex 42 20 22 21 46 44 48 60
multiple sebaceous cysts 42 21 60
sebocystomatosis 21 48
multiplex steatocystoma 21


External Ids:

OMIM46 184500
ICD10 via Orphanet26 L72.2
ICD1025 L72.2

Related Diseases for Steatocystoma Multiplex

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Steatocystoma Multiplex:



Diseases related to steatocystoma multiplex

Clinical Features for Steatocystoma Multiplex

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

184500

Clinical synopsis from OMIM:

184500

Symptoms:

48
  • skin tumors/lumps/epidermal cysts
  • adenoma sebaceum
  • autosomal dominant inheritance
  • urinary/renal lithiasis/kidney stones/nephritic colic

Drugs & Therapeutics for Steatocystoma Multiplex

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Steatocystoma Multiplex

Drug clinical trials:

Search ClinicalTrials for Steatocystoma Multiplex

Search NIH Clinical Center for Steatocystoma Multiplex

Search CenterWatch for Steatocystoma Multiplex

Genetic Tests for Steatocystoma Multiplex

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Steatocystoma Multiplex:

id Genetic test Affiliating Genes
1 Steatocystoma Multiplex20 22 KRT17

Anatomical Context for Steatocystoma Multiplex

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Steatocystoma Multiplex:

32
Skin, Kidney

Animal Models for Steatocystoma Multiplex or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Steatocystoma Multiplex:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5KRT17, KRT10, KRT16

Publications for Steatocystoma Multiplex

About this section

Genetic Variations for Steatocystoma Multiplex

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Steatocystoma Multiplex:

62
id Symbol AA change Variation ID SNP ID
1KRT17p.Asn92HisVAR_003848
2KRT17p.Arg94HisVAR_003850
3KRT17p.Met88ThrVAR_010512
4KRT17p.Arg94CysVAR_010513

Expression for genes affiliated with Steatocystoma Multiplex

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Steatocystoma Multiplex

Search GEO for disease gene expression data for Steatocystoma Multiplex.

Pathways for genes affiliated with Steatocystoma Multiplex

About this section
Sources:
4Cell Signaling Technology, 12EMD Millipore
See all sources

Pathways related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT17, KRT10
29.1KRT17, KRT16

Compounds for genes affiliated with Steatocystoma Multiplex

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1hematoxylin449.4CALB2, KRT10
2dithranol449.3KRT10, KRT16
3calcipotriol44 59 28 1112.2KRT10, KRT16
4isotretinoin44 1110.2KRT10, KRT16
5sodium dodecylsulfate449.1KRT17, KRT16
6calcitriol44 59 11 2412.0KRT10, KRT16
71,25 dihydroxy vitamin d3448.9KRT16, KRT10
8retinoid448.7KRT16, KRT10, KRT17
9steroid448.6KRT10, KRT16, CALB2
10paraffin448.2KRT17, KRT10, KRT16, CALB2
11retinoic acid44 249.2KRT17, KRT10, KRT16

GO Terms for genes affiliated with Steatocystoma Multiplex

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.5KRT17, KRT10, KRT16

Biological processes related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085449.1KRT17, KRT16

Molecular functions related to Steatocystoma Multiplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.1KRT17, KRT16

Products for genes affiliated with Steatocystoma Multiplex

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Steatocystoma Multiplex

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet