MCID: SCL025
MIFTS: 40

Scleromyxedema malady

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

Aliases & Classifications for Scleromyxedema

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Scleromyxedema:

Name: Scleromyxedema 42 48 61
Familial Idiopathic Dilatation of the Right Atrium 42 48
Generalized Lichenoid Papular Eruption 42 48
 
Arndt-Gottron Disease 42 48
Generalized Papular and Sclerodermoid Lichen Myxedematosus 48
Generalized Papular and Sclerodermoid 42


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

Orphanet48 167635, 1677
MESH via Orphanet34 D053718
ICD10 via Orphanet26 L98.5, Q20.8
UMLS via Orphanet62 C0263390

Summaries for Scleromyxedema

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NIH Rare Diseases:42 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:64 Papular mucinosis (also known as \"Scleromyxedema,\" \"Generalized lichen myxedematosus,\" and... more...

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 100449.7F13A1, ACTC1
2reticulin449.7F13A1, ACTC1
3b 723449.7ACTC1, F13A1
4hematoxylin449.6F13A1, ACTC1
5procollagen449.6ACTC1, F13A1
6urea44 24 1111.6F13A1, PIK3C2A
7diazepam44 28 50 1112.5PIK3C2A, FGF2
8warfarin44 50 24 1112.4PIK3C2A, FGF2
9glycogen44 2410.4ACTC1, PIK3C2A
10glycosaminoglycan449.4ACTC1, FGF2
11heparinoids449.4FGF2, F13A1
12prednisolone44 28 1111.4PIK3C2A, FGF2
13citrate449.4PIK3C2A, FGF2
14thyroxine44 2410.3FGF2, PIK3C2A
15isoproterenol44 1110.3FGF2, PIK3C2A
16prostacyclin449.3FGF2, PIK3C2A
17matrigel449.2ACTC1, FGF2
18fibrinogen449.2F13A1, PIK3C2A
19ascorbic acid44 2410.2FGF2, PIK3C2A
20iron44 2410.2ACTC1, F13A1, PIK3C2A
21progesterone44 28 60 24 1113.1PIK3C2A, ACTC1, F13A1
22cyclosporin a44 28 6011.0PIK3C2A, ACTC1, FGF2
23paraffin448.9F13A1, ACTC1, FGF2
24heparin44 28 24 1111.8PIK3C2A, F13A1, FGF2
25ly294002448.8FGF2, PIK3C2A
26estrogen448.8F13A1, FGF2, ACTC1
27tyrosine448.6FGF2, PIK3C2A, ACTC1
28vegf448.4PIK3C2A, F13A1, ACTC1, FGF2

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

Sources for Scleromyxedema

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet