{"Name":"Tempi syndrome","DiseaseID__c":"GARD:0010962","id":10962,"encodedName":"tempi-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Tempi syndrome","Xref_IDs__c":"718614004; C121656; C3854394; MEDGEN:886502; MONDO:0017286; ORPHA:284227","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017286","Disease_Description__c":"TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.","GARD_Name__c":"Tempi syndrome","GARD_Synonym__c":"telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome; telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome","Curated_Disease_Description_Source__c":"GARD:0010962","Curated_Disease_Description__c":"TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:284227","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017286","ORPHANET_ID__c":"ORPHA:284227","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome tempi","Spanish_Description_Source__c":"ORPHA:284227","Spanish_Description__c":"Es una enfermedad multisistémica poco frecuente caracterizada por la presencia de telangiectasias, eritrocitosis con niveles elevados de eritropoyetina, gammapatía monoclonal, colecciones de líquido perinéfrico y derivación intrapulmonar.","Spanish_Disease_Name__c":"síndrome tempi","Spanish_GARD_Synonym__c":"telangiectasia-eritrocitosis-gammapatía monoclonal-colecciones líquidas perirrenales-derivación intrapulmonar","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":"TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown.","Curated_Disease_Description_Source__c":"GARD:0010962","GARD_Synonym__c":"telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome; telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome","Name":"Tempi syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284227"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/284227","Source__c":"C3854394; MONDO:0017286; ORPHA:284227","Xref__c":"ORPHA:284227"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718614004","Source__c":"C3854394; MONDO:0017286","Xref__c":"718614004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3854394","Source__c":"C3854394","Xref__c":"C3854394"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121656","Source__c":"C3854394; MONDO:0017286","Xref__c":"C121656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=886502","Source__c":"C3854394","Xref__c":"MEDGEN:886502"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017286","Source__c":"GARD:0010962","Xref__c":"MONDO:0017286"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004930","HPO_Synonym__c":"Abnormality of the lung blood vessels","HPO_Name__c":"Abnormality of the pulmonary vasculature","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin G in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003237","HPO_Synonym__c":"Increased circulating IgG level; Increased IgG level; Increased levels of IgG; Increased total IgG in blood","HPO_Name__c":"Increased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001899","HPO_Synonym__c":"Increased Hct","HPO_Name__c":"Increased hematocrit","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001009","HPO_Synonym__c":"Telangiectases","HPO_Name__c":"Telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001041","HPO_Synonym__c":"Blushed cheeks; Blushing; Red face; Red in the face","HPO_Name__c":"Facial erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284227","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011920","HPO_Name__c":"Transudative pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology"]},"synonyms":["telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome"," telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome"]}