MCID: SCL025
MIFTS: 40

Scleromyxedema malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Summaries for Scleromyxedema

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NIH Rare Diseases:41 Scleromyxedema is a rare, severe skin disorder. signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). it often involves internal organs and may affect various body systems. the cause of scleromyxedema is not known. management may involve the use of intravenous immunoglobulin (ivig) and/or plasmapheresis, but no standard treatment exists. last updated: 4/18/2014

MalaCards based summary: Scleromyxedema, also known as familial idiopathic dilatation of the right atrium, is related to dermatitis and papular mucinosis. An important gene associated with Scleromyxedema is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Cardiac Progenitor Differentiation and ErbB4 Pathway. The compounds s 100 and reticulin have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and lymph node, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

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

Aliases & Classifications for Scleromyxedema

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Scleromyxedema, Aliases & Descriptions:

Name: Scleromyxedema 41 47 60
Familial Idiopathic Dilatation of the Right Atrium 41 47
Generalized Lichenoid Papular Eruption 41 47
 
Arndt-Gottron Disease 41 47
Generalized Papular and Sclerodermoid Lichen Myxedematosus 47
Generalized Papular and Sclerodermoid 41


Classifications:



Characteristics (Orphanet epidemiological data):

47

External Ids:

Orphanet47 167635, 1677
MESH via Orphanet34 D053718
ICD10 via Orphanet26 L98.5, Q20.8
UMLS via Orphanet61 C0263390

Related Diseases for Scleromyxedema

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Graphical network of the top 20 diseases related to Scleromyxedema:



Diseases related to scleromyxedema

Symptoms for Scleromyxedema

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Drugs & Therapeutics for Scleromyxedema

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Drug clinical trials:

Search ClinicalTrials for Scleromyxedema

Search NIH Clinical Center for Scleromyxedema

Genetic Tests for Scleromyxedema

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Anatomical Context for Scleromyxedema

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MalaCards organs/tissues related to Scleromyxedema:

31
Skin, Thyroid, Lymph node

Animal Models for Scleromyxedema or affiliated genes

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MGI Mouse Phenotypes related to Scleromyxedema:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0FGF2, ACTC1, F13A1, PIK3C2A
2MP:00053767.7FGF2, ACTC1, F13A1, PIK3C2A

Publications for Scleromyxedema

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Articles related to Scleromyxedema:

(show top 50)    (show all 154)
idTitleAuthorsYear
1
Scleromyxedema, a therapeutic dilemma. (25814746)
2015
2
Scleromyxedema. (25366027)
2014
3
Periocular Scleromyxedema. (24807804)
2014
4
Scleromyxedema with histology resembling granuloma annulare. (25780962)
2014
5
Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy. (23681113)
2013
6
Combination of intravenous immunoglobulins and lenalidomide in the treatment of scleromyxedema. (23866873)
2013
7
Scleromyxedema with subcutaneous nodules: successful treatment with thalidomide and intravenous immunoglobulin. (24348379)
2013
8
Scleromyxedema with monoclonal gammopathy and neurological involvement: recovery from coma after plasmapheresis? (21671910)
2012
9
Scleromyxedema: a cutaneous paraneoplastic syndrome associated with thymic carcinoma. (22162593)
2012
10
Scleromyxedema vs scleredema: a diagnostic challenge. (21771713)
2011
11
Cardiomyopathy in scleromyxedema: report of a fatal case. (20977988)
2010
12
Scleromyxedema with an interstitial granulomatous-like pattern: a rare histologic variant mimicking granuloma annulare. (19638067)
2010
13
Treatment of scleromyxedema and the dermatoneuro syndrome with intravenous immunoglobulin. (19249127)
2009
14
Scleromyxedema with myopathy was successfully treated by thalidomide. (18435730)
2009
15
Suspected cardiac toxicity to intravenous immunoglobulin used for treatment of scleromyxedema. (18583794)
2008
16
Unusual granulomatous variant of scleromyxedema. (18485525)
2008
17
Scleroderma-like acute renal crisis in a patient with scleromyxedema. (17389621)
2007
18
Steady remission of scleromyxedema 3 years after autologous stem cell transplantation: an in vivo and in vitro study. (16822907)
2006
19
Can scleromyxedema be differentiated from nephrogenic fibrosing dermatopathy by the distribution of the infiltrate? (17083697)
2006
20
Tumorous variant of scleromyxedema. Successful therapy with intravenous immunoglobulins. (15987294)
2005
21
Successful treatment of scleromyxedema with dexamethasone cyclophosphamide pulse therapy. (16394362)
2005
22
High-dose dexamethasone in scleromyxedema: report of 2 additional cases. (16198811)
2005
23
Successful treatment of scleromyxedema with autologous peripheral blood stem cell transplantation. (16230566)
2005
24
Thalidomide as a potential treatment for scleromyxedema. (15023770)
2004
25
Treatment of recalcitrant scleromyxedema with thalidomide in 3 patients. (15243538)
2004
26
Scleromyxedema in a patient with multiple sclerosis and monoclonal gammopathy on interferon beta-1a. (14760958)
2004
27
A complete and durable clinical response to high-dose dexamethasone in a patient with scleromyxedema. (15280830)
2004
28
Successful treatment of intractable scleromyxedema with cyclosporin A. (14657639)
2003
29
Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity. (12498227)
2002
30
Scleromyxedema-like fibromucinosis in a patient undergoing hemodialysis. (12100695)
2002
31
The neurologic complications of scleromyxedema. (11552085)
2001
32
Scleromyxedema: possible association with seminoma. (10767692)
2000
33
Scleromyxedema. (10426928)
1999
34
Scleromyxedema. (7601944)
1995
35
Extracorporeal photochemotherapy: a potentially useful treatment for scleromyxedema. (1791229)
1991
36
Scleromyxedema: case for therapeutic suggestion. (2340934)
1990
37
Stimulation of fibroblasts by paraprotein in scleromyxedema. (2808811)
1989
38
Scleromyxedema associated with non-Hodgkin lymphoma. (2592130)
1989
39
Scleromyxedema: therapeutic response to isotretinoin in three patients. (3170809)
1988
40
Plasmapheresis in a patient with scleromyxedema. (3107482)
1987
41
Scleromyxedema with systemic involvement mimics rheumatic diseases. (2943292)
1986
42
Scleromyxedema and inflammatory myopathy: a clinicopathologic study of three patients. (3465308)
1986
43
Treatment of scleromyxedema with etretinate. (6715602)
1984
44
Major surgery and scleromyxedema. (6230537)
1984
45
Scleromyxedema associated with IgG lambda multiple myeloma. (6416712)
1983
46
Scleromyxedema - a sclerodermoid disorder. (7288775)
1981
47
Pathology quiz case 3. Lichen myxedematosus (scleromyxedema). (7259228)
1981
48
Scleromyxedema --report of a case with hyperpolygammopathy and immunoglobulin and complement deposition in cutaneous lesions--. (6997351)
1980
49
Scleromyxedema myopathy. Histochemical and electron microscopic observations. (645644)
1978
50
Scleromyxedema. (5761799)
1969

Variations for Scleromyxedema

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Expression for genes affiliated with Scleromyxedema

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Search GEO for disease gene expression data for Scleromyxedema.

Pathways for genes affiliated with Scleromyxedema

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Compounds for genes affiliated with Scleromyxedema

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Compounds related to Scleromyxedema according to GeneCards Suite gene sharing:

(show all 28)
idCompoundScoreTop Affiliating Genes
1s 100439.7ACTC1, F13A1
2reticulin439.7F13A1, ACTC1
3b 723439.7ACTC1, F13A1
4hematoxylin439.6F13A1, ACTC1
5procollagen439.6ACTC1, F13A1
6urea43 24 1211.6F13A1, PIK3C2A
7diazepam43 28 49 1212.5PIK3C2A, FGF2
8warfarin43 49 24 1212.4FGF2, PIK3C2A
9glycogen43 2410.4ACTC1, PIK3C2A
10glycosaminoglycan439.4FGF2, ACTC1
11heparinoids439.4FGF2, F13A1
12prednisolone43 28 1211.4PIK3C2A, FGF2
13citrate439.4FGF2, PIK3C2A
14thyroxine43 2410.3FGF2, PIK3C2A
15isoproterenol43 1210.3PIK3C2A, FGF2
16prostacyclin439.3FGF2, PIK3C2A
17matrigel439.2FGF2, ACTC1
18fibrinogen439.2F13A1, PIK3C2A
19ascorbic acid43 2410.2FGF2, PIK3C2A
20iron43 2410.2PIK3C2A, F13A1, ACTC1
21progesterone43 28 59 24 1213.1ACTC1, F13A1, PIK3C2A
22cyclosporin a43 28 5911.0FGF2, ACTC1, PIK3C2A
23paraffin438.9FGF2, ACTC1, F13A1
24heparin43 28 24 1211.8FGF2, F13A1, PIK3C2A
25ly294002438.8FGF2, PIK3C2A
26estrogen438.8FGF2, ACTC1, F13A1
27tyrosine438.6PIK3C2A, ACTC1, FGF2
28vegf438.4FGF2, ACTC1, F13A1, PIK3C2A

GO Terms for genes affiliated with Scleromyxedema

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Cellular components related to Scleromyxedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.3ACTC1, F13A1

Biological processes related to Scleromyxedema according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol biosynthetic processGO:00066619.1FGF2, PIK3C2A
2epidermal growth factor receptor signaling pathwayGO:00071739.1FGF2, PIK3C2A
3phosphatidylinositol-mediated signalingGO:00480159.0FGF2, PIK3C2A
4insulin receptor signaling pathwayGO:00082868.8FGF2, PIK3C2A

Products for genes affiliated with Scleromyxedema

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  • Antibodies
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Sources for Scleromyxedema

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet