MCID: STT007
MIFTS: 45

Steatocystoma Multiplex malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Steatocystoma Multiplex

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Aliases & Descriptions for Steatocystoma Multiplex:

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


Classifications:



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OMIM49 184500
ICD1027 L72.2
MedGen34 C0259771

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 pachyonychia congenita and steatocystoma multiplex with natal teeth, and has symptoms including adenoma sebaceum, nephrolithiasis and autosomal dominant inheritance. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17, Type I), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. Affiliated tissues include skin, breast and lung, and related mouse phenotypes are craniofacial and integument.

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.

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.

Description from OMIM:49 184500

Related Diseases for Steatocystoma Multiplex

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Diseases related to Steatocystoma Multiplex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 389)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita10.7
2steatocystoma multiplex with natal teeth10.7
3sebocystomatosis10.6
4snyder-robinson syndrome10.5
5mental retardation, x-linked, snyder-robinson type10.5
6systemic mastocytosis10.5
7x-linked intellectual disability, snyder type10.5
8leukonychia totalis10.4
9mastocytosis10.4
10acromegaly10.4
11smith-magenis syndrome10.4
12sinusitis10.4
13hidradenitis suppurativa10.4
14syringoma10.4
15hidradenitis10.4
16pancreatitis10.3
17child syndrome10.3
18sm-ahnmd10.3
19vipoma10.3
20central nervous system cancer10.3
21lupus erythematosus10.3
22nervous system cancer10.3
23kid syndrome10.3
24systemic lupus erythematosus10.3
25adenoma10.3
26human immunodeficiency virus infectious disease10.3
27peripheral nervous system neoplasm10.3
28nutritional deficiency disease10.3
29ipex syndrome10.3
30leukemia10.2
31acquired immunodeficiency syndrome10.2
32pituitary adenoma10.2
33sexual disorder10.2
34rheumatoid arthritis10.2
35lung cancer10.2
36pachyonychia congenita 410.2
37pseudofolliculitis barbae10.2
38acrokeratosis verruciformis10.2
39pachyonychia congenita 210.2
40alagille syndrome10.2
41alopecia10.2
42arthritis10.2
43leopard syndrome10.2
44lichen planus10.2
45polycystic kidney disease10.2
46keratoacanthoma10.2
47kidney disease10.2
48preauricular sinus10.2
49gorlin bushkell jensen syndrome10.2
50diabetes mellitus, noninsulin-dependent10.2

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 autosomal dominant inheritance HP:0000006
4 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 24 KRT17

Anatomical Context for Steatocystoma Multiplex

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MalaCards organs/tissues related to Steatocystoma Multiplex:

33
Skin, Breast, Lung, Kidney, Smooth muscle

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:00053828.5KRT10, KRT16, KRT17
2MP:00107718.5KRT10, KRT16, KRT17

Publications for Steatocystoma Multiplex

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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. (26165312)
2015
2
Steatocystoma multiplex associated with bilateral preauricular sinuses. (24666120)
2014
3
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. (24842198)
2014
4
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. (24852470)
2014
5
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. (24653640)
2014
6
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. (24300354)
2013
7
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. (23268169)
2012
8
Atypical steatocystoma multiplex with calcification. (22363850)
2011
9
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
10
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
11
Giant steatocystoma multiplex limited to the scalp. (19456780)
2009
12
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. (19335690)
2009
13
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
14
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)
2009
15
Photo quiz. Case 2. Steatocystoma multiplex. (18193508)
2007
16
The vein hook successfully used for eradication of steatocystoma multiplex. (17214684)
2007
17
Acquired multiple pilosebaceous cysts on the face having the histopathological features of steatocystoma multiplex and eruptive vellus hair cysts. (16207191)
2005
18
Suggestion for the treatment of steatocystoma multiplex located exclusively on the face. (14693025)
2004
19
Facial steatocystoma multiplex associated with pilar cyst and bilateral preauricular sinus. (11990251)
2002
20
Steatocystoma multiplex suppurativum: oral isotretinoin treatment combined with cryotherapy. (10812703)
2000
21
Acral steatocystoma multiplex. (10901733)
2000
22
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)
1998
23
Persistent milia, steatocystoma multiplex and eruptive vellus hair cysts: variable expression of multiple pilosebaceous cysts within an affected family. (9669113)
1998
24
Steatocystoma multiplex of the breast: mammographic and sonographic findings. (9423611)
1998
25
Steatocystoma multiplex localized only in the face. (9199989)
1997
26
Steatocystoma multiplex: a case with unusual clinical and histological manifestation. (9056662)
1997
27
Simultaneous occurrence of multiple trichoblastomas and steatocystoma multiplex. (9185919)
1997
28
Steatocystoma multiplex. (20944297)
1997
29
Hybrid cysts showing alternate combination of eruptive vellus hair cyst, steatocystoma multiplex, and epidermoid cyst, and an association among the three conditions. (8989942)
1996
30
Multiple papules of the scalp and forehead. Steatocystoma multiplex (facial papular variant). (7611805)
1995
31
LEOPARD syndrome associated with steatocystoma multiplex and hyperelastic skin. Report of a Japanese case. (8578962)
1995
32
Aspiration therapy in steatocystoma multiplex. (8420482)
1993
33
CO2 laser therapy for steatocystoma multiplex. (1809593)
1991
34
Multiple cystic lesions. Steatocystoma multiplex. (2297243)
1990
35
Steatocystoma multiplex treated with isotretinoin: a delayed response. (3197445)
1988
36
Steatocystoma multiplex with bilateral preauricular sinuses in four generations. (3421656)
1988
37
Eruptive vellus hair cyst and steatocystoma multiplex: two related conditions? (3351062)
1988
38
Natal teeth and steatocystoma multiplex: a newly recognized syndrome. (3429608)
1987
39
CT demonstration of steatocystoma multiplex. (3950170)
1986
40
Isotretinoin in the treatment of steatocystoma multiplex: a possible adverse reaction. (3456886)
1986
41
Steatocystoma multiplex. (6851639)
1983
42
Steatocystoma multiplex: anatomic reevaluation, electron microscopy, and autoradiography. (7165345)
1982
43
An ultrastructural study of steatocystoma multiplex and the normal pilosebaceous apparatus. (7037897)
1981
44
Multiple keratoacanthomas associated with steatocystoma multiplex and rheumatoid arthritis. A case report. (7406520)
1980
45
Steatocystoma multiplex. Report of a florid case and a review. (434851)
1979
46
Pachyonychia congenita and steatocystoma multiplex. (577197)
1977
47
Acrokeratosis verruciformis of Hopf with steatocystoma multiplex and hypertrophic lichen planus. (5060425)
1972
48
Steatocystoma multiplex with embryonal hair formation; case presentation and consideration of pathogenesis. (13478162)
1957
49
Steatocystoma multiplex. (18098681)
1948
50
Steatocystoma multiplex; an analysis of their contents. (20286533)
1947

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KRT16, KRT17
29.0KRT10, 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
1intermediate filamentGO:00058828.5KRT10, KRT16, KRT17

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

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.4KRT16, KRT17
2morphogenesis of an epitheliumGO:00020099.2KRT16, KRT17
3keratinocyte differentiationGO:00302169.1KRT10, KRT16
4epidermis developmentGO:00085449.0KRT16, KRT17

Molecular functions related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.3KRT16, KRT17
2structural molecule activityGO:00051988.2KRT10, KRT16, 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