Thrombotic Thrombocytopenic Purpura, Hereditary (TTP)

Alias:
Upshaw-Schulman Syndrome
Microangiopathic Hemolytic Anemia
Congenital Thrombotic Thrombocytopenic Purpura
Thrombotic Thrombocytopenic Purpura, Familial
Thrombotic Microangiopathy, Familial
Congenital Adamts-13 Deficiency
Schulman-Upshaw Syndrome
Congenital Ttp
Familial Ttp
Ttp
Uss
Thrombotic Thrombocytopenic Purpura, Hereditary, Infantile- or Adult-Onset
Thrombocytopenic Purpura, Thrombotic, Congenital
Thrombotic Thrombocytopenic Purpura, Congenital
Microangiopathic Hemolytic Anemia, Congenital
Microangiopathic Hemolytic Anemia Congenital
Thrombotic Thrombocytopenic Purpura Familial
Purpura, Thrombotic Thrombocytopenic
Thrombotic Microangiopathy Familial
Anemia Hemolytic Microangiopathic
Upshaw Factor, Deficiency of
Deficiency of Upshaw Factor
Upshaw-Schülman Syndrome
Moschkowitz Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Thrombotic Thrombocytopenic Purpura, Hereditary, also known as upshaw-schulman syndrome, is related to thrombotic thrombocytopenic purpura and severe pre-eclampsia, and has symptoms including fever and tremor. An important gene associated with Thrombotic Thrombocytopenic Purpura, Hereditary is ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13). The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and kidney, and related phenotypes are respiratory distress and jaundice
Related ID:
MESH:D011697
ICD11:1323666680

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
3
24
73

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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