MCID: STT007
MIFTS: 45

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 50 46 23 24 52 68 12 48 66
Sebocystomatosis 46 24 52 66
Multiple Sebaceous Cysts 46 23 24
 
Multiplex Steatocystoma 46 24 25
Sm 68

Characteristics:

Orphanet epidemiological data:

52
steatocystoma multiplex:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood

HPO:

62
steatocystoma multiplex:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 184500
Orphanet52 ORPHA841
ICD10 via Orphanet29 L72.2
MedGen35 C0259771
ICD1028 L72.2

Summaries for Steatocystoma Multiplex

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NIH Rare Diseases:46 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 can be caused by mutations in the krt17 gene and is inherited in an autosomal dominant manner. some cases are sporadic (where there are no other cases in the family). 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: 8/2/2016

MalaCards based summary: Steatocystoma Multiplex, also known as sebocystomatosis, is related to vipoma and steatocystoma multiplex with natal teeth, 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 are Cytoskeleton remodeling Neurofilaments and Cargo trafficking to the periciliary membrane. Affiliated tissues include skin, breast and lung, and related mouse phenotype digestive/alimentary.

UniProtKB/Swiss-Prot:68 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Genetics Home Reference:24 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:69 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM:50 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1vipoma29.4PKD1, PKD2
2steatocystoma multiplex with natal teeth12.4
3sm-ahnmd12.1
4smith-magenis syndrome11.5
5stiff-person syndrome11.3
6gorlin bushkell jensen syndrome11.2
7singleton merten syndrome10.9
8systemic mastocytosis10.8
9pachyonychia congenita10.4
10snyder-robinson syndrome10.4
11otosclerosis10.2KRT16, KRT17
12mastocytosis10.2
13pachyonychia congenita 210.2KRT16, KRT17
14keratosis palmoplantaris striata iii10.2KRT16, KRT17
15familial lipoprotein lipase deficiency10.2KRT16, KRT17
16acromegaly10.2
17epidermolytic acanthoma10.1KRT10, KRT17
18metatypical basal cell carcinoma10.1KRT10, KRT17
19pancreatitis10.1
20lupus erythematosus10.1
21hemoglobin d disease10.1KRT10, KRT17
22systemic lupus erythematosus10.1
23sinusitis10.1
24syringoma10.1
25hidradenitis suppurativa10.1
26hidradenitis10.1
27ichthyosis histrix, curth-macklin type10.1KRT10, KRT16
28leukonychia totalis10.0
29colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.0KRT10, KRT17
30adenoma10.0
31cervical cancer, somatic10.0
32complex lethal osteochondrodysplasia10.0KRT10, KRT16
33hypertrophic or verrucous lupus erythematosus10.0KRT10, KRT16
34ectodermal dysplasia 4, hair/nail type10.0KRT16, KRT17
35leukemia10.0
36pituitary adenoma10.0
37adenocarcinoma10.0
38bullous keratopathy9.9KRT10, KRT16
39epidermolysis bullosa simplex, dowling-meara type9.9KRT10, KRT16
40potocki-lupski syndrome9.9
41rheumatoid arthritis9.9
42lung cancer9.9
43pseudofolliculitis barbae9.9
44acrokeratosis verruciformis9.9
45alagille syndrome9.9
46alopecia9.9
47arthritis9.9
48leopard syndrome9.9
49keratoacanthoma9.9
50kidney disease9.9

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

Symptoms:

 52
  • nephrolithiasis
  • adenoma sebaceum
  • steatocystoma multiplex

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

UMLS symptoms related to Steatocystoma Multiplex:


tumor-like lesion of skin, leser-trélat sign

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 Multiplex25 23 KRT17

Anatomical Context for Steatocystoma Multiplex

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MalaCards organs/tissues related to Steatocystoma Multiplex:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.2KRT16, KRT17, PKD1, PKD2

Publications for Steatocystoma Multiplex

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Articles related to Steatocystoma Multiplex:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. (27183246)
2016
2
Steatocystoma multiplex with hair shaft abnormalities. (25808203)
2015
3
Steatocystoma multiplex associated with bilateral preauricular sinuses. (24666120)
2014
4
Late onset localized steatocystoma multiplex of the vulva. (24448142)
2014
5
A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex. (24371407)
2013
6
A rare case of facial steatocystoma multiplex. (24183228)
2013
7
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. (23268169)
2012
8
Syringoma masquerading as steatocystoma multiplex. (22565440)
2012
9
Er: yag laser therapy for steatocystoma multiplex. (21063535)
2010
10
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. (19886955)
2010
11
Cystic nodules affecting sexual activity: a quiz. Steatocystoma multiplex. (20574628)
2010
12
Question: Can you identify this condition? Steatocystoma multiplex. (20631281)
2010
13
Giant steatocystoma multiplex limited to the scalp. (19456780)
2009
14
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. (19120334)
2009
15
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)
2009
16
A case of steatocystoma multiplex limited to the scalp. (20548872)
2009
17
Late onset of a facial variant of steatocystoma multiplex - calretinin as a specific marker of the follicular companion cell layer. (18266860)
2008
18
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. (16620218)
2006
19
Surgical pearl: mini-incisions for the extraction of steatocystoma multiplex. (11369919)
2001
20
Acral steatocystoma multiplex. (10901733)
2000
21
Persistent milia, steatocystoma multiplex and eruptive vellus hair cysts: variable expression of multiple pilosebaceous cysts within an affected family. (9669113)
1998
22
Steatocystoma multiplex of the breast: mammographic and sonographic findings. (9423611)
1998
23
Steatocystoma multiplex and leuconychia in a child with Alagille syndrome. (9536240)
1998
24
Pachyonychia congenita associated with steatocystoma multiplex. (9714984)
1998
25
Cytologic-pathologic correlations: fine needle aspiration of three cases of steatocystoma multiplex. (9845756)
1998
26
Steatocystoma multiplex. (20944297)
1997
27
Linear steatocystoma multiplex. (9111836)
1997
28
Hybrid cysts showing alternate combination of eruptive vellus hair cyst, steatocystoma multiplex, and epidermoid cyst, and an association among the three conditions. (8989942)
1996
29
Eruptive vellus hair cyst and steatocystoma multiplex: hybrid cysts. (8832957)
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
The coexistence of eruptive vellus hair cysts and steatocystoma multiplex. (1479117)
1992
33
Relationship between steatocystoma multiplex and eruptive vellus hair cysts. (1613154)
1992
34
Steatocystoma multiplex treated with isotretinoin: a delayed response. (3197445)
1988
35
Eruptive vellus hair cyst and steatocystoma multiplex: two related conditions? (3351062)
1988
36
CT demonstration of steatocystoma multiplex. (3950170)
1986
37
Isotretinoin in the treatment of steatocystoma multiplex: a possible adverse reaction. (3456886)
1986
38
Steatocystoma multiplex. (3740892)
1986
39
The treatment of steatocystoma multiplex suppurativum with isotretinoin. (6590088)
1984
40
Steatocystoma multiplex manifesting as a foreign body granuloma. (6373166)
1984
41
Steatocystoma multiplex. (6851639)
1983
42
Multiple keratoacanthomas associated with steatocystoma multiplex and rheumatoid arthritis. A case report. (7406520)
1980
43
Treatment of lesions of steatocystoma multiplex and other epidermal cysts by cryosurgery. (7354189)
1980
44
Steatocystoma multiplex. Report of a florid case and a review. (434851)
1979
45
Gardner's syndrome and steatocystoma multiplex. Two unusual genetically determined conditions occurring in same patient. (1003453)
1976
46
Steatocystoma multiplex. (962340)
1976
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:

68
id Symbol AA change Variation ID SNP ID
1KRT17p.Asn92HisVAR_003848rs28928896
2KRT17p.Met88ThrVAR_010512rs28928898
3KRT17p.Arg94CysVAR_010513rs58730926

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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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
1polycystin complexGO:00021339.9PKD1, PKD2
2motile primary ciliumGO:00315129.6PKD1, PKD2
3intermediate filamentGO:00058829.3KRT10, KRT16, KRT17
4ciliumGO:00059299.3PKD1, PKD2
5ciliary membraneGO:00601709.1PKD1, PKD2
6extracellular exosomeGO:00700627.4KRT10, KRT16, KRT17, PKD1, PKD2

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.5KRT16, KRT17
2calcium channel activityGO:00052629.2PKD1, PKD2
3ion channel bindingGO:00443258.8PKD1, PKD2

Sources for Steatocystoma Multiplex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet