MCID: STT007
MIFTS: 42

Steatocystoma Multiplex malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex

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Aliases & Descriptions for Steatocystoma Multiplex:

Name: Steatocystoma Multiplex 49 11 45 22 23 47 67 65
Multiple Sebaceous Cysts 45 22 23
Multiplex Steatocystoma 23 24
 
Sebocystomatosis 23 65
Sm 67

Characteristics:

HPO:

61
steatocystoma multiplex:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 184500
MedGen34 C0259771
ICD1027 L72.2
UMLS65 C0259771, C3671377

Summaries for Steatocystoma Multiplex

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NIH Rare Diseases:45 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 based summary: Steatocystoma Multiplex, also known as multiple sebaceous cysts, is related to steatocystoma multiplex with natal teeth and sm-ahnmd, and has symptoms including adenoma sebaceum, nephrolithiasis and steatocystoma multiplex. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, t cells and breast, and related mouse phenotypes are integument and craniofacial.

UniProtKB/Swiss-Prot:67 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Genetics Home Reference:23 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:68 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:49 184500

Related Diseases for Steatocystoma Multiplex

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



Diseases related to steatocystoma multiplex

Symptoms for Steatocystoma Multiplex

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Symptoms by clinical synopsis from OMIM:

184500

Clinical features from OMIM:

184500

HPO human phenotypes related to Steatocystoma Multiplex:

id Description Frequency HPO Source Accession
1 adenoma sebaceum hallmark (90%) HP:0009720
2 nephrolithiasis occasional (7.5%) HP:0000787
3 steatocystoma multiplex HP:0012035

Drugs & Therapeutics for Steatocystoma Multiplex

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Steatocystoma Multiplex

Genetic Tests for Steatocystoma Multiplex

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Genetic tests related to Steatocystoma Multiplex:

id Genetic test Affiliating Genes
1 Steatocystoma Multiplex22 KRT17

Anatomical Context for Steatocystoma Multiplex

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MalaCards organs/tissues related to Steatocystoma Multiplex:

33
Skin, T cells, Breast, Endothelial, Brain, Thyroid, Eye

Animal Models for Steatocystoma Multiplex or affiliated genes

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MGI Mouse Phenotypes related to Steatocystoma Multiplex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1KRT16, KRT17, KRT6B, PKD1
2MP:00053828.1KRT16, KRT17, KRT6B, PKD1
3MP:00053817.8KRT16, KRT17, KRT6B, PKD1

Publications for Steatocystoma Multiplex

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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. (26982985)
2016
2
Efficiency of transcatheter patent foramen ovale closure in children after paradoxical embolism event. (26412471)
2015
3
Oxidized LDL-induced angiogenesis involves sphingosine 1-phosphate: prevention by anti-S1P antibody. (25176316)
2015
4
Abolition of lifelong specific phobia: a novel therapeutic consequence of left mesial temporal lobectomy. (24460482)
2015
5
Association study of monoamine oxidase-A gene promoter polymorphism (MAOA-uVNTR) with self-reported anxiety and other psychopathological symptoms in a community sample of early adolescents. (25747527)
2015
6
Advances of VEGR gene polymorphism and its clinical values in lung cancer]. (23945248)
2013
7
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. (23527306)
2013
8
Genetics of diastolic heart failure. (24220586)
2013
9
Myospherulosis. (23357100)
2013
10
Sacral osteomyelitis: an unusual complication from foreign body ingestion. (22472414)
2012
11
Giant cell arteritis and polymyalgia rheumatica after influenza vaccination: report of 10 cases and review of the literature. (22235046)
2012
12
Daily distribution of atrial arrhythmic episodes in sick sinus syndrome patients: implications for atrial arrhythmia monitoring. (22406397)
2012
13
AluYb8 insertion in the MUTYH gene and risk of early-onset breast and gastric cancers in the Chinese population. (22126480)
2011
14
Hirschsprung's disease and the brain. (21132502)
2011
15
CtBPs promote mitotic fidelity through their activities in the cell nucleus. (21057548)
2011
16
Adenosquamous carcinoma of the head and neck: relationship to human papillomavirus and review of the literature. (21305368)
2011
17
Angiosarcoma in an obese woman with worsening lymphedema after weight-loss and skin-reduction surgeries. (21763582)
2011
18
Generation and identification of monoclonal antibodies against FNIII domain D of human tenascin-C. (20199146)
2010
19
Correlation of BRCA1 and APC aberrant methylation with the response to anthracycline-based neoadjuvant chemotherapy in primary breast cancer]. (19615284)
2009
20
Identification of quinolines that inhibit melanogenesis by altering tyrosinase family trafficking. (18801917)
2008
21
Effect of intravenous immunoglobulin on cerebellar ataxia and neuropathic pain associated with celiac disease. (19049545)
2008
22
Lipid and insulin levels in obese children: changes with age and puberty. (18070774)
2007
23
N-Terminal domain of phosphodiesterase-11A4 (PDE11A4) decreases affinity of the catalytic site for substrates and tadalafil, and is involved in oligomerization. (17696499)
2007
24
C-reactive protein induces matrix metalloproteinase-1 and -10 in human endothelial cells: implications for clinical and subclinical atherosclerosis. (16580524)
2006
25
HIV protease inhibitors decrease VEGF/HIF-1alpha expression and angiogenesis in glioblastoma cells. (17132220)
2006
26
Bile acids induce Ca2+ release from both the endoplasmic reticulum and acidic intracellular calcium stores through activation of inositol trisphosphate receptors and ryanodine receptors. (17074764)
2006
27
C-reactive protein concentration in vaginal fluid as a marker for intra-amniotic inflammation/infection in preterm premature rupture of membranes. (16390808)
2005
28
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (15954112)
2005
29
CD4-CD8 and CD28 expression in T cells infiltrating the vitreous fluid in patients with proliferative diabetic retinopathy: a flow cytometric analysis. (15136323)
2004
30
Early single cell bifurcation of pro- and antiapoptotic states during oxidative stress. (15078887)
2004
31
Activation-induced cytosine deaminase (AID) is actively exported out of the nucleus but retained by the induction of DNA breaks. (15087440)
2004
32
TID1, a mammalian homologue of the drosophila tumor suppressor lethal(2) tumorous imaginal discs, regulates activation-induced cell death in Th2 cells. (12879007)
2003
33
Differential effects of vascular endothelial growth factor A isoforms in a mouse brain metastasis model of human melanoma. (14500375)
2003
34
Chemotactic activity of CXCL5 in cerebrospinal fluid of children with bacterial meningitis. (14644041)
2003
35
Anti-human immunodeficiency virus noncytolytic CD8+ T-cell response: a review. (12437858)
2002
36
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. (12466368)
2002
37
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. (12361953)
2002
38
PECAM-1 (CD31) regulates a hydrogen peroxide-activated nonselective cation channel in endothelial cells. (11927609)
2002
39
Activation of c-Jun NH2-terminal kinase/stress-activated protein kinase (JNK/SAPK) is critical for hypoxia-induced apoptosis of human malignant melanoma. (11306514)
2001
40
Synaptic synthesis of the Fragile X protein: possible involvement in synapse maturation and elimination. (10208156)
1999
41
Expression of neural cell adhesion molecules and neurofilament protein isoforms in skeletal muscle tumors. (9824109)
1998
42
Chemotherapeutic trial to control enterobiasis in schoolchildren. (9446908)
1997
43
Bedside measurement of factor VIII:C activity in individuals with hemophilia A. (8619397)
1996
44
Shift from fetal-type to Alzheimer-type phosphorylated Tau proteins in SKNSH-SY 5Y cells treated with okadaic acid. (7805890)
1995
45
Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site. (1522882)
1992
46
A simple and sensitive method of determination of superoxide dismutase activity based on the reaction of quercetin oxidation]. (2363268)
1990
47
Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. (2111010)
1990
48
Achondrogenesis type I. (849009)
1977
49
Sensitivity of infectious bovine rhinotracheitis virus to ether. (173737)
1975
50

Variations for Steatocystoma Multiplex

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UniProtKB/Swiss-Prot genetic disease variations for Steatocystoma Multiplex:

67
id Symbol AA change Variation ID SNP ID
1KRT17p.Asn92HisVAR_003848
2KRT17p.Met88ThrVAR_010512
3KRT17p.Arg94CysVAR_010513

Clinvar genetic disease variations for Steatocystoma Multiplex:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT17NM_000422.2(KRT17): c.274A> C (p.Asn92His)single nucleotide variantPathogenicrs28928896GRCh37Chr 17, 39780488: 39780488
2KRT17NM_000422.2(KRT17): c.281G> A (p.Arg94His)single nucleotide variantPathogenicrs28928897GRCh37Chr 17, 39780481: 39780481
3KRT17NM_000422.2(KRT17): c.280C> T (p.Arg94Cys)single nucleotide variantPathogenicrs58730926GRCh37Chr 17, 39780482: 39780482

Expression for genes affiliated with Steatocystoma Multiplex

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Search GEO for disease gene expression data for Steatocystoma Multiplex.

Pathways for genes affiliated with Steatocystoma Multiplex

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Pathways related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4KRT16, KRT17

GO Terms for genes affiliated with Steatocystoma Multiplex

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Cellular components related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular exosomeGO:00700628.6KRT10, KRT6B, PKD1

Biological processes related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.4KRT16, KRT17

Sources for Steatocystoma Multiplex

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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