SM
MCID: STT007
MIFTS: 42

Steatocystoma Multiplex (SM) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex

Aliases & Descriptions for Steatocystoma Multiplex:

Name: Steatocystoma Multiplex 54 50 24 25 56 66 13 52 69
Sebocystomatosis 50 25 56 69
Multiple Sebaceous Cysts 50 24 25
Multiplex Steatocystoma 50 25 29
Sm 66

Characteristics:

Orphanet epidemiological data:

56
sebocystomatosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood;

HPO:

32
steatocystoma multiplex:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 184500
Orphanet 56 ORPHA841
ICD10 via Orphanet 34 L72.2
MedGen 40 C0259771
ICD10 33 L72.2

Summaries for Steatocystoma Multiplex

NIH Rare Diseases : 50 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 steatocystoma multiplex with natal teeth and sm-ahnmd, and has symptoms including nephrolithiasis and adenoma sebaceum. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, breast and lung, and related phenotypes are craniofacial and digestive/alimentary

UniProtKB/Swiss-Prot : 66 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.

Genetics Home Reference : 25 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 : 71 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...

Description from OMIM: 184500

Related Diseases for Steatocystoma Multiplex

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

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 steatocystoma multiplex with natal teeth 12.3
2 sm-ahnmd 12.0
3 smith-magenis syndrome 11.7
4 stiff-person syndrome 11.5
5 systemic mastocytosis 11.4
6 gorlin bushkell jensen syndrome 11.1
7 mental retardation, x-linked, snyder-robinson type 10.9
8 potocki-lupski syndrome 10.8
9 singleton merten syndrome 10.8
10 sclerosteosis 1 10.1 KRT16 KRT17
11 chronic mountain sickness 10.1 KRT16 KRT17
12 dicrocoeliasis 10.1 KRT16 KRT17
13 white sponge nevus 1 10.1 KRT16 KRT17
14 bacteriuria 10.1 KRT16 KRT17
15 papilledema 10.1 KRT16 KRT17
16 mastocytosis 10.1
17 ebola hemorrhagic fever 10.1 KRT10 KRT17
18 anal margin basal cell carcinoma 10.1 KRT10 KRT17
19 mixed cell adenoma 10.0 KRT10 KRT17
20 bronchiolitis obliterans with obstructive pulmonary disease 10.0 KRT10 KRT16
21 acromegaly 10.0
22 keratosis palmoplantaris striata iii 10.0 KRT10 KRT16
23 familial acute necrotizing encephalopathy 10.0 KRT10 KRT16
24 cataract 15, multiple types 10.0 KRT16 KRT17
25 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.0 KRT10 KRT17
26 secondary corneal edema 10.0 KRT10 KRT16
27 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 10.0 KRT10 KRT17
28 scott syndrome 10.0 KRT10 KRT16
29 carotid artery thrombosis 10.0 KRT10 KRT16
30 epidermolysis bullosa simplex-mp 10.0 KRT10 KRT16
31 intraocular retinoblastoma 10.0 KRT10 KRT17
32 vascular dementia 10.0 KRT10 KRT16
33 pancreatitis 10.0
34 lupus erythematosus 10.0
35 breast leiomyoma 10.0 KRT10 KRT17
36 sinusitis 9.9
37 syringoma 9.9
38 hidradenitis suppurativa 9.9
39 hidradenitis 9.9
40 vipoma 9.9
41 systemic lupus erythematosus 9.9
42 mast-cell leukemia 9.9 KRT10 KRT16
43 leukonychia totalis 9.9
44 solitary bone cyst 9.9 KRT10 KRT16
45 adenoma 9.9
46 orchitis 9.9 KRT10 KRT17
47 brachydactyly small stature face anomalies 9.9 KRT10 KRT16 KRT17
48 distal arthrogryposis 9.9 KRT10 KRT16 KRT17
49 pachyonychia congenita 2 9.9 KRT10 KRT16 KRT17
50 malignant spindle cell melanoma 9.9 KRT10 KRT16 KRT17

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



Diseases related to Steatocystoma Multiplex

Symptoms & Phenotypes for Steatocystoma Multiplex

Symptoms by clinical synopsis from OMIM:

184500

Clinical features from OMIM:

184500

Human phenotypes related to Steatocystoma Multiplex:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 56 32 Occasional (29-5%) HP:0000787
2 adenoma sebaceum 56 32 Very frequent (99-80%) HP:0009720
3 steatocystoma multiplex 56 32 Very frequent (99-80%) HP:0012035

MGI Mouse Phenotypes related to Steatocystoma Multiplex:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 KRT16 KRT17 PKD1
2 digestive/alimentary MP:0005381 8.8 KRT16 KRT17 PKD1

Drugs & Therapeutics for Steatocystoma Multiplex

Search Clinical Trials , NIH Clinical Center for Steatocystoma Multiplex

Genetic Tests for Steatocystoma Multiplex

Genetic tests related to Steatocystoma Multiplex:

id Genetic test Affiliating Genes
1 Steatocystoma Multiplex 29 24 KRT17

Anatomical Context for Steatocystoma Multiplex

MalaCards organs/tissues related to Steatocystoma Multiplex:

39
Skin, Breast, Lung, Smooth Muscle, Kidney

Publications for Steatocystoma Multiplex

Articles related to Steatocystoma Multiplex:

(show top 50) (show all 150)
id Title Authors Year
1
A Tale of Two Cysts: Steatocystoma Multiplex and Eruptive Vellus Hair Cysts-Two Case Reports and a Review of the Literature. ( 28480085 )
2017
2
Steatocystoma multiplex suppurativa: case report of a rare condition. ( 28300893 )
2016
3
Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex. ( 27183246 )
2016
4
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene. ( 26165312 )
2015
5
Recurring axillary, abdominal and genitofemoral nodules and abscesses. Hereditary steatocystoma multiplex. ( 24816583 )
2015
6
Steatocystoma multiplex with hair shaft abnormalities. ( 25808203 )
2015
7
Facial steatocystoma multiplex combined with eruptive vellus hair cysts: a hybrid? ( 25073410 )
2014
8
Steatocystoma multiplex associated with bilateral preauricular sinuses. ( 24666120 )
2014
9
Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. ( 24842198 )
2014
10
Steatocystoma multiplex: those little tumours. ( 25632643 )
2014
11
Polycystic Kidney Disease with Steatocystoma Multiplex: Evidences for a Disruptive Effect of Mutated Polycystin-1 on Keratin 17 Polymerisation. ( 25111597 )
2014
12
Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib. ( 24653640 )
2014
13
Late onset localized steatocystoma multiplex of the vulva. ( 24448142 )
2014
14
Carbon dioxide laser perforation and extirpation of steatocystoma multiplex. ( 24852470 )
2014
15
Increased FDG Uptake in Scrotal Steatocystoma Multiplex With Calcification. ( 24300354 )
2013
16
Acral steatocystoma multiplex. ( 23741681 )
2013
17
Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature. ( 23449619 )
2013
18
A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex. ( 24371407 )
2013
19
A rare case of facial steatocystoma multiplex. ( 24183228 )
2013
20
1,450-nm diode laser in combination with the 1550-nm fractionated erbium-doped fiber laser for the treatment of steatocystoma multiplex: a case report. ( 22487444 )
2012
21
Steatocystoma multiplex--an uncommon lesion with special emphasis on cytological features and cyto-histological correlation. ( 23023356 )
2012
22
Steatocystoma multiplex: keratin 17 - the key player? ( 22639854 )
2012
23
Mammographic and sonographic findings of steatocystoma multiplex presenting as breast lumps. ( 23268169 )
2012
24
Acral subcutaneous steatocystoma multiplex: a distinct subtype of the disease? ( 22747737 )
2012
25
Syringoma masquerading as steatocystoma multiplex. ( 22565440 )
2012
26
Steatocystoma multiplex. ( 22679266 )
2011
27
Atypical steatocystoma multiplex with calcification. ( 22363850 )
2011
28
A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex. ( 21262598 )
2011
29
Steatocystoma multiplex confined to the scalp with concurrent alopecia. ( 22148065 )
2011
30
Case for diagnosis. Steatocystoma multiplex. ( 21437547 )
2011
31
A modified surgical technique for steatocystoma multiplex. ( 20606990 )
2010
32
Steatocystoma multiplex generalisata partially suppurativa--case report. ( 20624362 )
2010
33
Familial coincidence of hidradenitis suppurativa and steatocystoma multiplex. ( 19886955 )
2010
34
Cystic nodules affecting sexual activity: a quiz. Steatocystoma multiplex. ( 20574628 )
2010
35
Question: Can you identify this condition? Steatocystoma multiplex. ( 20631281 )
2010
36
Er: yag laser therapy for steatocystoma multiplex. ( 21063535 )
2010
37
Steatocystoma multiplex, a rare distribution of a rare disease. ( 20299306 )
2010
38
Giant steatocystoma multiplex limited to the scalp. ( 19456780 )
2009
39
Perforation and extirpation of steatocystoma multiplex. ( 19261031 )
2009
40
Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. ( 19659471 )
2009
41
Familial syringoma: report of two cases with a published work review and the unique association with steatocystoma multiplex. ( 19335690 )
2009
42
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. ( 19470054 )
2009
43
A case of steatocystoma multiplex limited to the scalp. ( 20548872 )
2009
44
Linear unilateral steatocystoma multiplex. ( 18482320 )
2009
45
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation. ( 19120334 )
2009
46
Steatocystoma multiplex suppurativum. ( 18986448 )
2008
47
Late onset of a facial variant of steatocystoma multiplex - calretinin as a specific marker of the follicular companion cell layer. ( 18266860 )
2008
48
Steatocystoma multiplex: a report of two sporadic cases. ( 18306570 )
2007
49
The vein hook successfully used for eradication of steatocystoma multiplex. ( 17214684 )
2007
50
Photo quiz. Case 2. Steatocystoma multiplex. ( 18193508 )
2007

Variations for Steatocystoma Multiplex

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

66
id Symbol AA change Variation ID SNP ID
1 KRT17 p.Asn92His VAR_003848 rs28928896
2 KRT17 p.Met88Thr VAR_010512 rs28928898
3 KRT17 p.Arg94Cys VAR_010513 rs58730926

ClinVar genetic disease variations for Steatocystoma Multiplex:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT17 NM_000422.2(KRT17): c.274A> C (p.Asn92His) single nucleotide variant Pathogenic rs28928896 GRCh37 Chromosome 17, 39780488: 39780488
2 KRT17 NM_000422.2(KRT17): c.281G> A (p.Arg94His) single nucleotide variant Pathogenic rs28928897 GRCh37 Chromosome 17, 39780481: 39780481
3 KRT17 NM_000422.2(KRT17): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs58730926 GRCh37 Chromosome 17, 39780482: 39780482

Expression for Steatocystoma Multiplex

Search GEO for disease gene expression data for Steatocystoma Multiplex.

Pathways for Steatocystoma Multiplex

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 KRT10 KRT16 KRT17
2
Show member pathways
10.99 KRT16 KRT17

GO Terms for Steatocystoma Multiplex

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.26 KRT10 KRT16 KRT17 PKD1
2 intermediate filament GO:0005882 8.8 KRT10 KRT16 KRT17

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

id Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.26 KRT16 KRT17
2 keratinocyte differentiation GO:0030216 9.16 KRT10 KRT16
3 keratinization GO:0031424 9.13 KRT10 KRT16 KRT17
4 cornification GO:0070268 8.8 KRT10 KRT16 KRT17

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT16 KRT17
2 structural constituent of cytoskeleton GO:0005200 8.62 KRT16 KRT17

Sources for Steatocystoma Multiplex

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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