{"Name":"Limited cutaneous systemic sclerosis","DiseaseID__c":"GARD:0001053","id":1053,"encodedName":"limited-cutaneous-systemic-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Limited cutaneous systemic sclerosis","Xref_IDs__c":"298285004; 299276009; C0748540; D045745; DOID:1577; MEDGEN:148187; MONDO:0016358; ORPHA:220402","USA_Estimate__c":null,"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":null,"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:0016358","Disease_Description__c":"Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.","GARD_Name__c":"Limited cutaneous systemic sclerosis","GARD_Synonym__c":"limited cutaneous systemic scleroderma; limited scleroderma; limited systemic sclerosis; systemic sclerosis, limited","Curated_Disease_Description_Source__c":"GARD:0001053","Curated_Disease_Description__c":"Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of Limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:220402","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016358","ORPHANET_ID__c":"ORPHA:220402","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis sistémica cutánea limitada","Spanish_Description_Source__c":"ORPHA:220402","Spanish_Description__c":"La esclerosis sistémica cutánea limitada es un subtipo de esclerosis sistémica (ES; consulte este término) caracterizada por la asociación del fenómeno de Raynaud con una fibrosis cutánea limitada a manos, cara, pies y antebrazos.","Spanish_Disease_Name__c":"esclerosis sistémica cutánea limitada","Spanish_GARD_Synonym__c":"esclerodermia sistémica cutánea limitada","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":"Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of Limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals.","Curated_Disease_Description_Source__c":"GARD:0001053","GARD_Synonym__c":"limited cutaneous systemic scleroderma; limited scleroderma; limited systemic sclerosis; systemic sclerosis, limited","Name":"Limited cutaneous systemic sclerosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Scleroderma Foundation","Website__c":"https://www.scleroderma.org"},{"Account_Name__c":"Scleroderma Research Foundation","Website__c":"https://srfcure.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.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:220402"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001053","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0748540","Source__c":"C0748540","Xref__c":"C0748540"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1577","Source__c":"MONDO:0016358","Xref__c":"DOID:1577"},{"URL__c":"https://www.orpha.net/en/disease/detail/220402","Source__c":"C0748540; MONDO:0016358","Xref__c":"ORPHA:220402"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=148187","Source__c":"C0748540","Xref__c":"MEDGEN:148187"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=298285004","Source__c":"MONDO:0016358","Xref__c":"298285004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C045745","Source__c":"C0748540; MONDO:0016358","Xref__c":"D045745"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=299276009","Source__c":"C0748540; MONDO:0016358","Xref__c":"299276009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016358","Source__c":"GARD:0001053","Xref__c":"MONDO:0016358"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:220402","HPO_Frequency__c":"Frequent (30-79%)","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:220402","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:220402","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100579","HPO_Name__c":"Mucosal telangiectasiae","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220402","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009473","HPO_Synonym__c":"Contractures involving the hands; Contractures of the hands","HPO_Name__c":"Joint contracture of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220402","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:220402","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008366","HPO_Synonym__c":"Contractures involving the joints of the feet; Contractures of the foot joints; Joint contractures involving the joints of the feet","HPO_Name__c":"Foot joint contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220402","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:220402","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:220402","HPO_Frequency__c":"Occasional (5-29%)","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:220402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:220402","HPO_Frequency__c":"Frequent (30-79%)","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:220402","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:220402","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:220402","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:220402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Pulmonology","Rheumatology","Nephrology","Dermatology"],"Disease Category":["Pulmonology","Nephrology","Dermatology"],"Account":["Nephrology","Dermatology","Cardiomyopathy"]},"synonyms":["limited cutaneous systemic scleroderma"," limited scleroderma"," limited systemic sclerosis"," systemic sclerosis, limited"]}