{"Name":"Thromboangiitis obliterans","DiseaseID__c":"GARD:0005969","id":5969,"encodedName":"thromboangiitis-obliterans","IsDeleted":false,"Disease_Name_Full__c":"Thromboangiitis obliterans","Xref_IDs__c":"52403007; C0040021; C35070; D013919; DOID:12918; I73.1; MEDGEN:21531; MONDO:0008889; OMIM:211480; ORPHA:36258","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008889","Disease_Description__c":"A rare systemic disease characterized by inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease with thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.","GARD_Name__c":"Thromboangiitis obliterans","GARD_Synonym__c":"buerger disease; buerger's disease; presenile gangrene; thromboangiitis obliterans [buerger's disease]","Curated_Disease_Description_Source__c":"GARD:0005969","Curated_Disease_Description__c":"Buerger disease is a disease in which small and medium-sized blood vessels in the arms and/or legs become inflamed and blocked (vasculitis). This reduces blood flow to affected areas of the body, eventually resulting damage to tissues. Symptoms of Buerger disease may include coldness, numbness, tingling or burning, and pain. Symptoms may first be felt in the fingertips or toes, and then move further up the arms or legs. Additional symptoms that may develop include changes in the texture and color of the skin, Raynaud's phenomenon, painful muscle cramps, swelling (edema), skin ulcers, and gangrene. Buerger disease almost always occurs in people who use tobacco, but it is not known exactly how tobacco plays a role in the development of the disease. Some people may have a genetic predisposition to Buerger disease. It is also possible that Buerger disease is an autoimmune disease, as the immune system seems to play a large role in its development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:36258","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008889","ORPHANET_ID__c":"ORPHA:36258","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de buerger","Spanish_Description_Source__c":"ORPHA:36258","Spanish_Description__c":"Es una enfermedad sistémica poco frecuente caracterizada por enfermedad vascular oclusiva, inflamatoria, no necrosante, no aterosclerótica, con trombosis y recanalización que afecta a arterias y venas de pequeño y mediano tamaño de las extremidades superiores e inferiores.","Spanish_Disease_Name__c":"enfermedad de buerger","Spanish_GARD_Synonym__c":"tromboangitis obliterante","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":"Buerger disease is a disease in which small and medium-sized blood vessels in the arms and/or legs become inflamed and blocked (vasculitis). This reduces blood flow to affected areas of the body, eventually resulting damage to tissues. Symptoms of Buerger disease may include coldness, numbness, tingling or burning, and pain. Symptoms may first be felt in the fingertips or toes, and then move further up the arms or legs. Additional symptoms that may develop include changes in the texture and color of the skin, Raynaud's phenomenon, painful muscle cramps, swelling (edema), skin ulcers, and gangrene. Buerger disease almost always occurs in people who use tobacco, but it is not known exactly how tobacco plays a role in the development of the disease. Some people may have a genetic predisposition to Buerger disease. It is also possible that Buerger disease is an autoimmune disease, as the immune system seems to play a large role in its development.","Curated_Disease_Description_Source__c":"GARD:0005969","GARD_Synonym__c":"buerger disease; buerger's disease; presenile gangrene; thromboangiitis obliterans [buerger's disease]","Name":"Thromboangiitis obliterans","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Vasculitis Foundation","Website__c":"https://www.vasculitisfoundation.org/"},{"Account_Name__c":"Society for Vascular Surgery","Website__c":"http://www.vascularweb.org/index.html"},{"Account_Name__c":"Vasculitis Foundation Canada","Website__c":"https://vasculitis.ca/"}],"GARD_Disease_Tag__c":[{"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:36258"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52403007","Source__c":"C0040021; MONDO:0008889","Xref__c":"52403007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12918","Source__c":"MONDO:0008889","Xref__c":"DOID:12918"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35070","Source__c":"C0040021; MONDO:0008889","Xref__c":"C35070"},{"URL__c":"https://www.orpha.net/en/disease/detail/36258","Source__c":"C0040021; MONDO:0008889; ORPHA:36258","Xref__c":"ORPHA:36258"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013919","Source__c":"C0040021; MONDO:0008889","Xref__c":"D013919"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040021","Source__c":"C0040021","Xref__c":"C0040021"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21531","Source__c":"C0040021","Xref__c":"MEDGEN:21531"},{"URL__c":"https://www.omim.org/entry/211480","Source__c":"C0040021; MONDO:0008889; ORPHA:36258","Xref__c":"OMIM:211480"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/I73.1","Source__c":"MONDO:0008889","Xref__c":"I73.1"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008889","Source__c":"GARD:0005969","Xref__c":"MONDO:0008889"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=195299000","Source__c":"C0040021","Xref__c":"195299000"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033402","HPO_Name__c":"Digital ischemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002633","HPO_Synonym__c":"Angiitis; Inflammation of blood vessel","HPO_Name__c":"Vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033505","HPO_Name__c":"Livedo reticularis","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002638","HPO_Name__c":"Superficial thrombophlebitis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","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:36258","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004420","HPO_Synonym__c":"Blood clot in artery","HPO_Name__c":"Arterial thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100785","HPO_Synonym__c":"Difficulty staying or falling asleep; Inability to sleep","HPO_Name__c":"Insomnia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030880","HPO_Synonym__c":"Raynaud's phenomenon","HPO_Name__c":"Raynaud phenomenon","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blockage of blood flow through an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025324","HPO_Name__c":"Arterial occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100758","HPO_Synonym__c":"Death of body tissue due to lack of blood flow or infection","HPO_Name__c":"Gangrene","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin of the hands or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001063","HPO_Synonym__c":"Persistent blue color of hands or feet","HPO_Name__c":"Acrocyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004417","HPO_Name__c":"Intermittent claudication","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36258","HPO_Frequency__c":"Very frequent (80-99%)","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:36258","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031006","HPO_Name__c":"Acroparesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Nephrology","Vascular Medicine"],"Account":["Nephrology"],"Disease Category":["Nephrology"]},"synonyms":["buerger disease"," buerger's disease"," presenile gangrene"," thromboangiitis obliterans [buerger's disease]"]}