Systemic Scleroderma (PSS) malady
Genetic diseases, Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases categories
9Disease Ontology, 22Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 64Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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
MalaCards based summary: Systemic Scleroderma, also known as systemic sclerosis, is related to connective tissue disease and vascular disease, and has symptoms including xerostomia, gingivitis and dry skin. An important gene associated with Systemic Scleroderma is HOXD13 (homeobox D13). The drugs chloroquine and epoprostenol and the compounds phosphorus and warfarin have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related mouse phenotype homeostasis/metabolism.
Disease Ontology:9 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:22 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.
NIH Rare Diseases:42 Scleroderma is a group of widespread connective tissue diseases that involve changes in the skin, blood vessels, muscles, and internal organs. there are two main types. localized scleroderma affects onlyÂ the skin. systemic scleroderma affectsÂ the blood vessels and internal organs, as well asÂ the skin.Â although the cause of scleroderma is unknown, it is believed to be related to an overproduction and accumulation of collagen which results when the immune system turns against the body (autoimmune reaction).Â there is no cure, but various treatments can relieve symptoms. last updated: 10/11/2010
Wikipedia:64 Systemic sclerosis or systemic scleroderma is an autoimmune or connective tissue disease. It is... more...
Description from OMIM:46 181750
Systemic Scleroderma, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases
ICD10: 27 26
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Adulthood; Age of death: Adult
Clinical features from OMIM:181750
Symptoms:48 (show all 59)
HPO human phenotypes related to Systemic Scleroderma:(show all 83)
Drug clinical trials:
Inferred drug relations via UMLS61/NDF-RT40:
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Stem-cell-based therapeutic approaches for Systemic Scleroderma:
MalaCards organs/tissues related to Systemic Scleroderma:32
Skin, Lung, Heart, Testes, Kidney, Bone, Liver, T cells, Breast, Monocytes, Endothelial
Articles related to Systemic Scleroderma:(show top 50) (show all 208)
Search GEO for disease gene expression data for Systemic Scleroderma.
Compounds related to Systemic Scleroderma according to GeneCards/GeneDecks:(show all 17)
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet