Systemic Scleroderma malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases
Aliases & Descriptions for Systemic Scleroderma:
Orphanet epidemiological data:51
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: adult
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases
ICD10: 28 27
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases
NIH Rare Diseases:45 Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. there are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. these two main types also have different sub-types. localized scleroderma can be divided in:linear scleroderma (en coup de sabre) morphea (localized, generalized, guttata and deep). systemic scleroderma is subdivided in:diffuse cutaneous systemic sclerosis limited cutaneous systemic sclerosis (which includes crest syndrome) limited systemic sclerosis (or systemic sclerosis sine scleroderm). there are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or sjogren syndrome. the underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. there is no cure, but various treatments can relieve symptoms. last updated: 11/2/2015
MalaCards based summary: Systemic Scleroderma, also known as scleroderma, is related to diffuse scleroderma and limited scleroderma, and has symptoms including xerostomia, gingivitis and dry skin. An important gene associated with Systemic Scleroderma is CTGF (Connective Tissue Growth Factor), and among its related pathways are Glucocorticoid receptor regulatory network and Malaria. The drugs chloroquine and chloroquine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related mouse phenotypes are integument and endocrine/exocrine gland.
Disease Ontology:10 A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Genetics Home Reference:23 Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.
MedlinePlus:35 Scleroderma means hard skin. it is a group of diseases that cause abnormal growth of connective tissue. connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. in scleroderma, the tissue gets hard or thick. it can cause swelling or pain in your muscles and joints. symptoms of scleroderma include calcium deposits in connective tissues raynaud's phenomenon, a narrowing of blood vessels in the hands or feet swelling of the esophagus, the tube between your throat and stomach thick, tight skin on your fingers red spots on your hands and face no one knows what causes scleroderma. it is more common in women. it can be mild or severe. doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. there is no cure, but various treatments can control symptoms and complications. nih: national institute of arthritis and musculoskeletal and skin diseases
Wikipedia:68 Systemic sclerosis or systemic scleroderma is an autoimmune disease of the connective tissue. It is... more...
Symptoms:51 (show all 59)
HPO human phenotypes related to Systemic Scleroderma:(show all 60)
Drugs for Systemic Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 226)
Interventional clinical trials:(show top 50) (show all 279)
Search NIH Clinical Center for Systemic Scleroderma
Inferred drug relations via UMLS65/NDF-RT43:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Systemic Scleroderma cell therapies at LifeMap Discovery.
MalaCards organs/tissues related to Systemic Scleroderma:33
Skin, Lung, Heart, Bone, Endothelial, Testes, Kidney
MGI Mouse Phenotypes related to Systemic Scleroderma:38
Articles related to Systemic Scleroderma:(show top 50) (show all 210)
Search GEO for disease gene expression data for Systemic Scleroderma.
Biological processes related to Systemic Scleroderma according to GeneCards Suite gene sharing:
Molecular functions related to Systemic Scleroderma according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet