| D011697 |
Purpura, Thrombotic Thrombocytopenic |
An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases. |
Moschkowitz Disease,Purpura, Thrombotic Thrombopenic,Thrombotic Thrombocytopenic Purpura, Congenital,Thrombotic Thrombocytopenic Purpura, Familial,Congenital Thrombotic Thrombocytopenic Purpura,Familial Thrombotic Thrombocytopenia Purpura,Familial Thrombotic Thrombocytopenic Purpura,Microangiopathic Hemolytic Anemia, Congenital,Moschcowitz Disease,Schulman-Upshaw Syndrome,Thrombotic Microangiopathy, Familial,Thrombotic Thrombocytopenic Purpura,Upshaw Factor, Deficiency of,Upshaw-Schulman Syndrome,Familial Thrombotic Microangiopathy,Microangiopathy, Familial Thrombotic,Schulman Upshaw Syndrome,Thrombocytopenic Purpura, Thrombotic,Thrombopenic Purpura, Thrombotic,Thrombotic Thrombopenic Purpura,Upshaw Schulman Syndrome |
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| D006463 |
Hemolytic-Uremic Syndrome |
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE. |
Gasser's Syndrome,Gasser Syndrome,Gassers Syndrome,Hemolytic Uremic Syndrome,Syndrome, Hemolytic-Uremic |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000071120 |
ADAMTS13 Protein |
An ADAMTS protease that contains eight thrombospondin (TS) motifs. It cleaves VON WILLEBRAND FACTOR to control vWF-mediated THROMBOSIS. Mutations in the ADAMTS13 gene have been identified in familial cases of PURPURA, THROMBOTIC THROMBOCYTOPENIC and defects in ADAMTS13 activity are associated with MYOCARDIAL INFARCTION; BRAIN ISCHEMIA; PRE-ECLAMPSIA; and MALARIA. |
A Disintegrin and Metalloproteinase with Thrombospondin Motifs 13 Protein,ADAMTS-13 Protein,ADAMTS13 Protease,vWF-Cleaving Protease,von Willebrand Factor-Cleaving Protease,ADAMTS 13 Protein,vWF Cleaving Protease,von Willebrand Factor Cleaving Protease |
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| D013577 |
Syndrome |
A characteristic symptom complex. |
Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes |
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| D017242 |
Complement Factor H |
An important soluble regulator of the alternative pathway of complement activation (COMPLEMENT ACTIVATION PATHWAY, ALTERNATIVE). It is a 139-kDa glycoprotein expressed by the liver and secreted into the blood. It binds to COMPLEMENT C3B and makes iC3b (inactivated complement 3b) susceptible to cleavage by COMPLEMENT FACTOR I. Complement factor H also inhibits the association of C3b with COMPLEMENT FACTOR B to form the C3bB proenzyme, and promotes the dissociation of Bb from the C3bBb complex (COMPLEMENT C3 CONVERTASE, ALTERNATIVE PATHWAY). |
Factor H,Factor H, Complement |
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| D051722 |
ADAM Proteins |
A family of membrane-anchored glycoproteins that contain a disintegrin and metalloprotease domain. They are responsible for the proteolytic cleavage of many transmembrane proteins and the release of their extracellular domain. |
A Disintegrin and Metalloprotease Protein,A Disintegrin and Metalloprotease Proteins,ADAM (A Disintegrin and Metalloprotease) Proteins |
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