Thrombotic Thrombocytopenic Purpura (TTP)

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Disease Ontology 12 DOID:10772 KEGG 36 H00225 MeSH 43 D011697 NCIt 49 C78797

SNOMED-CT 67 78129009 ICD10 32 M31.1 SNOMED-CT via HPO 68 102594003 128613002 14350001000004108 14669001 166715006 21522001 22298006 230145002 230690007 246545002 25064002 267036007 267060006 286933003 29738008 302215000 313307000 34436003 371632003 386661006 415116008 44808001 46049004 50177009 51071000 53298000 62315008 698247007 84757009 91175000 more UMLS 71 C0034155 C0221021 C1268935 C1956258 more

Genetics Home Reference : ²⁵ Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Blood clots normally form to prevent excess blood loss at the site of an injury. In people with thrombotic thrombocytopenic purpura, clots develop in blood vessels even in the absence of injury. Blood clots are formed from clumps of cells called platelets, which circulate in the blood and assist with clotting. Because a large number of platelets are used to make clots in people with thrombotic thrombocytopenic purpura, fewer platelets are available in the bloodstream. A reduced level of circulating platelets is known as thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura. This disorder also causes red blood cells to break down (undergo hemolysis) prematurely. As blood squeezes past clots within blood vessels, red blood cells can break apart. A condition called hemolytic anemia occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. There are two major forms of thrombotic thrombocytopenic purpura, an acquired (noninherited) form and a familial form. The acquired form usually appears in late childhood or adulthood. Affected individuals may have a single episode of signs and symptoms, or they may recur over time. The familial form of this disorder is much rarer and typically appears in infancy or early childhood. In people with the familial form, signs and symptoms often recur on a regular basis.

MalaCards based summary : Thrombotic Thrombocytopenic Purpura, also known as purpura, thrombotic thrombocytopenic, is related to thrombotic thrombocytopenic purpura, congenital and raynaud phenomenon, and has symptoms including tremor and fever. An important gene associated with Thrombotic Thrombocytopenic Purpura is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Cell surface interactions at the vascular wall. The drugs Methylprednisolone hemisuccinate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and brain, and related phenotypes are dyspnea and generalized muscle weakness

KEGG : ³⁶ Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have acquired autoantibody inhibitors of the ADAMTS13 metalloprotease.

PubMed Health : ⁶² About thrombotic thrombocytopenic purpura: Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop. The increased clotting that occurs in TTP also uses up platelets (PLATE-lets) in the blood. Platelets are blood cell fragments that help form blood clots. These cell fragments stick together to seal small cuts and breaks on blood vessel walls and stop bleeding. With fewer platelets available in the blood, bleeding problems can occur. People who have TTP may bleed inside their bodies, underneath the skin, or from the surface of the skin. When cut or injured, they also may bleed longer than normal. "Thrombotic" (throm-BOT-ik) refers to the blood clots that form. "Thrombocytopenic" (throm-bo-cy-toe-PEE-nick) means the blood has a lower than normal number of platelets. "Purpura" (PURR-purr-ah) refers to purple bruises caused by bleeding under the skin. Bleeding under the skin also can cause tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash.

Wikipedia : ⁷⁴ Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in... more...

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased replication of vaccinia virus (VACV)	GR00362-A	9.1	CFH ITGB3 SELP SERPINC1 SERPINF2 THBD