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MCID: RYN003
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Reynolds Syndrome malady |
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Sources: 30NIH Rare Diseases, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. Diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported. Although generally considered an autoimmune disorder, other causes have been suggested, including genetics. Reynolds syndrome may be caused by mutations in the LBR gene and inherited in an autosomal dominant fashion.30
MalaCards: Reynolds Syndrome, also known as primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia, is related to pelger-huet anomaly and muscular dystrophy. An important gene associated with Reynolds Syndrome is LMNB2 (lamin B2), and among its related pathways are Granzyme-B Pathway and Granzyme Pathway. The compound ionomycin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are craniofacial and muscle. Wikipedia: Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary...44 more... OMIM: 613471 |
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Sources: 30NIH Rare Diseases, 33OMIM See all sources |
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Sources: 13GeneCards, 14GeneDecks See all sources |
Diseases related to reynolds syndrome by text searches and GeneDecks gene sharing:
Graphical network of the top 20 diseases related to reynolds syndrome: |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 613471
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials See all sources |
Approved drugs:Search CenterWatch for reynolds syndrome Drug clinical trials:Search ClinicalTrials for reynolds syndrome Search NIH Clinical Center for reynolds syndrome Search CenterWatch for reynolds syndrome |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to reynolds syndrome:22Skin
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to reynolds syndrome:25
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Sources: 35PubMed See all sources |
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Sources: 1BioGPS See all sources |
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Sources: 36QIAGEN, 10EMD Millipore, 41Thomson Reuters, 3Cell Signaling Technology, 38Reactome See all sources |
Pathways related to reynolds syndrome according to GeneDecks:
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Sources: 32Novoseek See all sources |
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Sources: 12Gene Ontology See all sources |
Cellular components related to reynolds syndrome according to GeneDecks:
Biological processes related to reynolds syndrome according to GeneDecks:
Molecular functions related to reynolds syndrome according to GeneDecks:
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