MCID: SCL025
MIFTS: 35

Scleromyxedema malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Scleromyxedema

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Scleromyxedema:

Name: Scleromyxedema 45 51 65
Generalized Lichenoid Papular Eruption 45 51
Arndt-Gottron Disease 45 51
 
Generalized Papular and Sclerodermoid Lichen Myxedematosus 51
Generalized Papular and Sclerodermoid 45

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 167635
ICD10 via Orphanet28 L98.5
MESH via Orphanet37 D053718
UMLS via Orphanet66 C0263390
UMLS65 C0263390

Summaries for Scleromyxedema

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NIH Rare Diseases:45 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 generalized lichenoid papular eruption, is related to melanoma and myocardial infarction. 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. Affiliated tissues include skin, thyroid and brain, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Wikipedia:68 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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Skin, Thyroid, Brain, Liver, Colon, Kidney, Endothelial

Animal Models for Scleromyxedema or affiliated genes

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MGI Mouse Phenotypes related to Scleromyxedema:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0ACTC1, F13A1, FGF2, PIK3C2A
2MP:00053767.7ACTC1, F13A1, FGF2, PIK3C2A

Publications for Scleromyxedema

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Articles related to Scleromyxedema:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Clubfoot treatment: Implementation of the Ponseti method in emerging countries. (27046927)
2016
2
Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. (26505994)
2015
3
Serum level of osteopontin as an inflammatory marker does not indicate disease activity or responsiveness to therapeutic treatments in patients with rheumatoid arthritis. (23995733)
2014
4
Randomised phase II study of docetaxel plus vandetanib versus docetaxel followed by vandetanib in patients with persistent or recurrent epithelial ovarian, fallopian tube or primary peritoneal carcinoma: SWOG S0904. (24709487)
2014
5
Endovascular treatment of cystic adventitial disease of the popliteal artery. (23953666)
2013
6
Thoracic spinal epidural angiolipoma: report of two cases and review of the literature. (23546918)
2013
7
Malaria vector control in South Africa. (24079634)
2013
8
CDH13 and FLBN3 gene methylation are associated with poor prognosis in colorectal cancer. (21796503)
2012
9
Intracellular overexpression of HIV-1 Nef impairs differentiation and maturation of monocytic precursors towards dendritic cells. (22808111)
2012
10
Genetic polymorphisms of SLCO1B1 for drug pharmacokinetics and its clinical implications]. (22041697)
2011
11
Human G3BP1 interacts with beta-F1-ATPase mRNA and inhibits its translation. (20663914)
2010
12
Camel bite, an unusual mechanism of severe head injury. (20118794)
2010
13
Downregulation of active IKK beta by Ro52-mediated autophagy. (20627395)
2010
14
Trefoil factor-1 (TFF1) enhances oncogenicity of mammary carcinoma cells. (19589871)
2009
15
Tumor necrosis factor-alpha inhibition protects against endotoxin-induced endothelial glycocalyx perturbation. (18550063)
2009
16
Achondroplasia: manifestations and treatment. (19307672)
2009
17
The synergistic effect of bone mineral density and methylenetetrahydrofolate reductase (MTHFR) polymorphism (C677T) on fractures. (18979159)
2008
18
Dermatological lesions near the smallpox vaccination site after scab detachment. (18284363)
2008
19
H2AZ is enriched at polycomb complex target genes in ES cells and is necessary for lineage commitment. (18992931)
2008
20
Innate immunity triggers oligodendrocyte progenitor reactivity and confines damages to brain injuries. (16464958)
2006
21
Obesity and insulin resistance as risk factors for chronic kidney disease. (17679819)
2006
22
Extracranial internal carotid artery dissection with unusual gadolinium enhancement. (16894128)
2006
23
Possible explanations for patients with discordant findings of serum thyroglobulin and 131I whole-body scanning. (16157530)
2005
24
Kinetics and mechanism of lactosylation of alpha-lactalbumin. (15769141)
2005
25
Generation of loss of heterozygosity and its dependency on p53 status in human lymphoblastoid cells. (15688360)
2005
26
Overexpression of fatty acid synthase in chemically and hormonally induced hepatocarcinogenesis of the rat. (15543204)
2005
27
Characterization and isolation of promoter-defined nestin-positive cells from the human fetal pancreas. (14514635)
2003
28
Acceleration of Drosophila melanogaster acetylcholinesterase methanesulfonylation: peripheral ligand D-tubocurarine enhances the affinity for small methanesulfonylfluoride. (11823003)
2002
29
H. pylori infection and visceral hypersensitivity in patients with irritable bowel syndrome. (11549828)
2001
30
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. (11059551)
2000
31
Hairy leukoplakia: an unusual combination of transforming and permissive Epstein-Barr virus infections. (10906215)
2000
32
Benzylidene lactam compound, KNK437, a novel inhibitor of acquisition of thermotolerance and heat shock protein induction in human colon carcinoma cells. (10850441)
2000
33
Complementary roles of neurotrophin 3 and a N-methyl-D-aspartate antagonist in the protection of noise and aminoglycoside-induced ototoxicity. (10861021)
2000
34
Microbial MIP channels. (10637642)
2000
35
Urethritis caused by Neisseria meningitidis serogroup C. (11856216)
1999
36
Abrogation of the Cripto gene in mouse leads to failure of postgastrulation morphogenesis and lack of differentiation of cardiomyocytes. (9876177)
1999
37
Localization of rabbit huntingtin using a new panel of monoclonal antibodies. (10350633)
1999
38
Cloning and expression of a G protein-linked acetylcholine receptor from Caenorhabditis elegans. (9886054)
1999
39
Postural hypotension and abnormalities of salt and water metabolism in myelopathy patients. (9160455)
1997
40
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. (9382095)
1997
41
Tissue-specific transcription pattern of the adenine nucleotide translocase isoforms in humans. (9315697)
1997
42
Torsion of a wandering spleen. (8102549)
1993
43
Clinical significance of the estrogen regulated pS2 protein in mammary tumors. (8240704)
1993
44
Androgen and progesterone receptors in meningiomas. (8410238)
1993
45
Discrete subaortic stenosis. (8494456)
1993
46
Peutz-Jeghers syndrome. (1645025)
1992
47
Thrombolysis for superior sagittal sinus thrombosis. (1799753)
1991
48
Adult peripheral neuroepithelioma in Meckel's cave. (1997905)
1991
49
Immunoreactive epidermal growth factor concentrations in follicular fluid obtained from in vitro fertilization. (2116331)
1990
50
Bone marrow transplantation in the treatment of alpha-mannosidosis. (3314721)
1987

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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Pathways related to Scleromyxedema according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1ACTC1, FGF2
2
Show member pathways
9.1FGF2, PIK3C2A
39.1FGF2, 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-mediated signalingGO:00480159.1FGF2, PIK3C2A
2phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.1FGF2, PIK3C2A
3phosphatidylinositol biosynthetic processGO:00066618.8FGF2, PIK3C2A

Sources for Scleromyxedema

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet