MCID: SCL025
MIFTS: 32

Scleromyxedema malady

Skin diseases category

Summaries for Scleromyxedema

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Scleromyxedema is a rare skin disorder characterized by the rapid growth of fibroblasts (a type of connective tissue cell) and mucin deposition in the skin (dermis), in the absence of thyroid disease. mucins, are proteins that make the skin more viscous. they may also be called mucoproteins or proteoglycans. the cause of scleromyxedema is currently unknown. last updated: 1/6/2009

MalaCards: Scleromyxedema, also known as generalized papular and sclerodermoid lichen myxedematosus, is related to myopathy and scleroderma. An important gene associated with Scleromyxedema is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Cardiac Progenitor Differentiation and VEGF Signaling Pathway. The compounds s 100 and reticulin have been mentioned in the context of this disorder. Affiliated tissues include skin and thyroid, and related mouse phenotype homeostasis/metabolism.

Wikipedia:63 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

Aliases & Classifications for Scleromyxedema

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Sources:
42NIH Rare Diseases, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

scleromyxedema 42 48 60
generalized papular and sclerodermoid lichen myxedematosus 48
generalized lichenoid papular eruption 48
arndt-gottron disease 48


External Ids:

MESH via Orphanet35 D053718
ICD10 via Orphanet26 L98.5
SNOMED-CT via Orphanet57 111197009, 402468007
UMLS via Orphanet61 C0263390

Related Diseases for Scleromyxedema

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17GeneCards, 18GeneDecks
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Diseases related to Scleromyxedema via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.4PIK3C2A
2scleroderma10.3
3myeloma10.1
4dermatomyositis10.1
5multiple myeloma10.1
6myositis10.1
7papular mucinosis10.1
8scleromyxedema without monoclonal gammopathy10.1
9fasciitis10.0ACTC1
10pericardial effusion10.0PIK3C2A
11acute myocardial infarction10.0PIK3C2A
12coronary heart disease10.0PIK3C2A
13fibromatosis10.0ACTC1
14leiomyosarcoma10.0ACTC1
15disseminated intravascular coagulation10.0PIK3C2A
16pulmonary embolism10.0F13A1
17pneumonia10.0PIK3C2A
18fibrosarcoma10.0ACTC1, FGF2
19idiopathic pulmonary fibrosis10.0ACTC1, FGF2
20tuberous sclerosis10.0F13A1
21hemangiopericytoma10.0F13A1, ACTC1
22cutaneous fibrous histiocytoma10.0F13A1, ACTC1
23fibrous histiocytoma10.0F13A1, ACTC1
24sarcoma10.0F13A1, ACTC1
25giant cell tumor10.0F13A1, ACTC1
26malignant fibroxanthoma10.0ACTC1, F13A1
27keloids10.0FGF2, F13A1
28dermatofibrosarcoma protuberans10.0F13A1, ACTC1
29ischemia10.0PIK3C2A, FGF2
30kaposi's sarcoma10.0F13A1, FGF2
31neurilemmoma10.0ACTC1, F13A1
32myocardial infarction10.0PIK3C2A, F13A1
33neurofibroma10.0F13A1, ACTC1
34adenocarcinoma10.0F13A1, ACTC1
35basal cell carcinoma10.0F13A1, ACTC1
36atherosclerosis10.0FGF2, F13A1
37hemangioma10.0F13A1, FGF2, ACTC1
38factor v leiden thrombophilia10.0ACTC1, PIK3C2A, F13A1
39melanoma10.0F13A1, ACTC1, FGF2
40vascular disease10.0FGF2, F13A1
41crohn's disease9.9
42non-hodgkin lymphoma9.9
43atopic dermatitis9.9
44cerebritis9.9
45myxedema9.9
46monoclonal paraproteinemia9.9
47pyoderma gangrenosum9.9
48granuloma annulare9.9
49arthritis9.9
50arthropathy9.9

Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to scleromyxedema

Clinical Features for Scleromyxedema

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Drugs & Therapeutics for Scleromyxedema

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Scleromyxedema

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Anatomical Context for Scleromyxedema

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32MalaCards
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MalaCards organs/tissues related to Scleromyxedema:

32
Skin, Thyroid

Animal Models for Scleromyxedema or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Scleromyxedema:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ACTC1, FGF2, F13A1, PIK3C2A

Publications for Scleromyxedema

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Genetic Variations for Scleromyxedema

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Expression for genes affiliated with Scleromyxedema

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scleromyxedema

Search GEO for disease gene expression data for Scleromyxedema.

Pathways for genes affiliated with Scleromyxedema

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Sources:
37NCBI BioSystems Database, 49PharmGKB
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Pathways related to Scleromyxedema according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ACTC1, FGF2
29.1FGF2, PIK3C2A
39.1FGF2, PIK3C2A

Compounds for genes affiliated with Scleromyxedema

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Scleromyxedema according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1s 100449.7F13A1, ACTC1
2reticulin449.7ACTC1, F13A1
3b 723449.6F13A1, ACTC1
4hematoxylin449.6ACTC1, F13A1
5procollagen449.5F13A1, ACTC1
6urea44 11 2411.4PIK3C2A, F13A1
7diazepam44 49 28 1112.4FGF2, PIK3C2A
8warfarin44 49 11 2412.4PIK3C2A, FGF2
9heparinoids449.4FGF2, F13A1
10glycosaminoglycan449.3ACTC1, FGF2
11prednisolone44 28 1111.3FGF2, PIK3C2A
12citrate449.1FGF2, PIK3C2A
13prostacyclin449.1FGF2, PIK3C2A
14iron44 2410.1PIK3C2A, F13A1, ACTC1
15progesterone44 59 28 11 2413.0ACTC1, F13A1, PIK3C2A
16thyroxine44 2410.0PIK3C2A, FGF2
17cyclosporin a44 28 5910.9ACTC1, FGF2, PIK3C2A
18isoproterenol44 119.8FGF2, PIK3C2A
19paraffin448.8ACTC1, FGF2, F13A1
20heparin44 28 11 2411.8FGF2, F13A1, PIK3C2A
21estrogen448.6ACTC1, FGF2, F13A1
22vegf448.3ACTC1, FGF2, F13A1, PIK3C2A

GO Terms for genes affiliated with Scleromyxedema

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Sources:
16Gene Ontology
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Biological processes related to Scleromyxedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor signaling pathwayGO:0082869.1FGF2, PIK3C2A
2phosphatidylinositol biosynthetic processGO:0066619.0FGF2, PIK3C2A
3phosphatidylinositol-mediated signalingGO:0480158.8FGF2, PIK3C2A

Products for genes affiliated with Scleromyxedema

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scleromyxedema

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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