Tempi Syndrome

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UMLS via Orphanet 72 C3854394 Orphanet 58 ORPHA284227

SNOMED-CT via HPO 68 109992005 111293003 112641009 127062003 1386000 20255002 2099007 247479008 25064002 253053003 271811009 389026000 389087006 398909004 400210000 44513007 79231000 90708001 more UMLS 71 C3854394

NIH Rare Diseases : ⁵² TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: T elangiectasias , E rythrocytosis with elevated erythropoietin level , M onoclonal gammopathy , P erinephric-fluid collections (fluid around the kidney), and I ntrapulmonary 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. Treatment has reportedly been completely or partially successful with the medication bortezomib .

MalaCards based summary : Tempi Syndrome, also known as telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome, is related to telangiectasis and plasma cell neoplasm. Affiliated tissues include kidney, brain and lung, and related phenotypes are abnormality of the kidney and hypoxemia

Wikipedia : ⁷⁴ TEMPI Syndrome is an orphan disease where the patients share five characteristics from which the acronym... more...

Search Clinical Trials , NIH Clinical Center for Tempi Syndrome

Search GEO for disease gene expression data for Tempi Syndrome.