{"Name":"Diffuse cutaneous systemic sclerosis","DiseaseID__c":"GARD:0009751","id":9751,"encodedName":"diffuse-cutaneous-systemic-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Diffuse cutaneous systemic sclerosis","Xref_IDs__c":"C116791; CN282059; MEDGEN:965566; MONDO:0016356; ORPHA:220393","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016356","Disease_Description__c":"Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).","GARD_Name__c":"Diffuse cutaneous systemic sclerosis","GARD_Synonym__c":"diffuse cutaneous systemic scleroderma; dssc; progressive cutaneous systemic scleroderma; progressive cutaneous systemic sclerosis","Curated_Disease_Description_Source__c":"GARD:0009751","Curated_Disease_Description__c":"Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) and is characterized by skin hardening (fibrosis) and problems in many organs of the body. Symptoms include Raynaud's phenomenon; skin fibrosis beginning on the fingers and face that rapidly becomes generalized; \"spider veins\" (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux; and difficulty eating (dysphagia) along with weight loss, vomiting, diarrhea or constipation. Dry mouth and dental involvement can occur. Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. More serious problems involving the lung and kidneys may also occur. The exact cause of the condition is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:220393","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016356","ORPHANET_ID__c":"ORPHA:220393","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis sistémica cutánea difusa","Spanish_Description_Source__c":"ORPHA:220393","Spanish_Description__c":"La esclerosis sistémica cutánea difusa (dcSSc; por sus siglas en inglés) es un tipo de esclerosis sistémica caracterizado por una fibrosis cutánea en tronco y extremidades y una afectación difusa de incidencia temprana y significativa (enfermedad pulmonar intersticial, insuficiencia renal oligúrica, enfermedad gastrointestinal difusa y afección miocárdica).","Spanish_Disease_Name__c":"esclerosis sistémica cutánea difusa","Spanish_GARD_Synonym__c":"esclerodermia sistémica cutánea difusa; esclerodermia sistémica cutánea progresiva; esclerosis sistémica cutánea progresiva","Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) and is characterized by skin hardening (fibrosis) and problems in many organs of the body. Symptoms include Raynaud's phenomenon; skin fibrosis beginning on the fingers and face that rapidly becomes generalized; \"spider veins\" (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux; and difficulty eating (dysphagia) along with weight loss, vomiting, diarrhea or constipation. Dry mouth and dental involvement can occur. Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. More serious problems involving the lung and kidneys may also occur. The exact cause of the condition is unknown.","Curated_Disease_Description_Source__c":"GARD:0009751","GARD_Synonym__c":"diffuse cutaneous systemic scleroderma; dssc; progressive cutaneous systemic scleroderma; progressive cutaneous systemic sclerosis","Name":"Diffuse cutaneous systemic sclerosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Scleroderma Foundation","Website__c":"https://www.scleroderma.org"},{"Account_Name__c":"Scleroderma Society of Ontario","Website__c":"https://www.hardword.ca/"},{"Account_Name__c":"Scleroderma & Raynaud's UK","Website__c":"https://www.sruk.co.uk"},{"Account_Name__c":"Scleroderma Canada","Website__c":"https://www.scleroderma.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:220393"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009751","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116791","Source__c":"MONDO:0016356","Xref__c":"C116791"},{"URL__c":"https://www.orpha.net/en/disease/detail/220393","Source__c":"CN282059; MONDO:0016356","Xref__c":"ORPHA:220393"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016356","Source__c":"GARD:0009751","Xref__c":"MONDO:0016356"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN282059","Source__c":"CN282059","Xref__c":"CN282059"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=965566","Source__c":"CN282059","Xref__c":"MEDGEN:965566"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent genital pain associated with sexual intercourse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030016","HPO_Name__c":"Dyspareunia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002113","HPO_Synonym__c":"Lung infiltrates; Pulmonic infiltration","HPO_Name__c":"Pulmonary infiltrates","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030142","HPO_Synonym__c":"Abnormal bowel sounds","HPO_Name__c":"Abnormal bowel sounds","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100958","HPO_Name__c":"Narrow foramen obturatorium","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100735","HPO_Name__c":"Hypertensive crisis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Low output of urine, clinically classified as an output below 300-500ml/day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100520","HPO_Name__c":"Oliguria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220393","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Pulmonology","Rheumatology","Nephrology","Dermatology"],"Disease Category":["Pulmonology","Nephrology","Dermatology"],"Account":["Nephrology","Dermatology","Cardiomyopathy"]},"synonyms":["diffuse cutaneous systemic scleroderma"," dssc"," progressive cutaneous systemic scleroderma"," progressive cutaneous systemic sclerosis"]}