Thrombotic thrombocytopenic purpura, hereditary

Preferred Label : Thrombotic thrombocytopenic purpura, hereditary;

Symbol : TTP;

CISMeF acronym : TTP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombotic microangiopathy, familial; Schulman-upshaw syndrome; USS; Microangiopathic hemolytic anemia, congenital; Thrombotic thrombocytopenic purpura, familial; Upshaw factor, deficiency of; Upshaw-schulman syndrome; Microangiopathic hemolytic anemia; Thrombotic thrombocytopenic purpura, hereditary, infantile- or adult-onset; Thrombotic thrombocytopenic purpura, congenital;

Description : The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the von Willebrand-cleaving protease gene (ADAMTS13, 604134.0001);

Laboratory abnormalities : Decreased hemoglobin; Increased serum lactate dehydrogenase (LDH); Decreased serum haptoglobin; Proteinuria; Microscopic hematuria; Increased blood urea nitrogen (BUN); Increased creatinine; Ultra large von Willebrand factor (UL-vWF) in plasma;

Prefixed ID : #274150;

Details

Origin ID

274150;

UMLS CUI

C1268935;

Automatic exact mappings (from CISMeF team)
- ADAM metallopeptidase with thrombospondin type 1 motif 13 [ORDO Gene]
- ADAM metallopeptidase with thrombospondin type 1 motif 13 [HGNC gene]
- Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency [ICD-11 More detail]
- Microangiopathic haemolytic anaemia [MedDRA Preferred Term]
- Microangiopathic hemolytic anemia [HPO term]
- Microangiopathic hemolytic anemia [MedDRA LLT]
- Microangiopathic hemolytic anemia (disorder) [SNOMED CT concept]
- Other nonautoimmune hemolytic anemias [ICD-10 Sub-category]
- Thrombotic Thrombocytopenic Purpura [NCIt concept]
- Thrombotic thrombocytopenic purpura [ICD-11 Sub-sub category]
- Thrombotic thrombocytopenic purpura [ORDO Disease]
- Thrombotic thrombocytopenic purpura (disorder) [SNOMED CT concept]
- Time to Progression [NCIt concept]
- Tristetraprolin [NCIt concept]
- ZFP36 ring finger protein [HGNC gene]
- ZFP36 wt Allele [NCIt concept]
- anemia, hemolytic [MeSH Descriptor]
- deoxythymidine triphosphate [SNOMED Notion]
- familial thrombotic thrombocytopenic purpura [MeSH concept]
- microangiopathic hemolytic anemia [MeSH concept]
- microangiopathic hemolytic anemia [SNOMED Notion]
- partial thromboplastin time [MeSH Descriptor]
- purpura, thrombotic thrombocytopenic [MeSH Descriptor]
- purpura, thrombotic thrombocytopenic [MeSH concept]
- student health services [CISMeF resources Type]
- student health services [MeSH Descriptor]
- thiamine triphosphorate [MeSH Supplementary Concept]
- thrombotic microangiopathy [Blood Transfusion thesaurus concept]
- thymidine 5'-(tetrahydrogen triphosphate) [Substance BNPC]
- thymidine 5'-triphosphate [MeSH concept]
- thymidine 5'-triphosphate [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Congenital Thrombotic Thrombocytopenic Purpura [NCIt concept]
- Congenital thrombotic thrombocytopenic purpura [ORDO Disease]
- Upshaw-Schulman syndrome (disorder) [SNOMED CT concept]
- congenital thrombotic thrombocytopenic purpura [MeSH concept]
DO Cross reference
- thrombotic thrombocytopenic purpura [DO Concept]
Genes related to phenotype
- A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13 [OMIM gene]
HPO term(s)
- Abnormal renal physiology [HPO term]
- Abnormality of renal physiology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Confusion [HPO term]
- Decreased hemoglobin [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Fever [HPO term]
- Hemolytic-uremic syndrome [HPO term]
- Increased blood urea nitrogen [HPO term]
- Increased serum lactate [HPO term]
- Jaundice [HPO term]
- Microangiopathic hemolytic anemia [HPO term]
- Microscopic hematuria [HPO term]
- Myocardial infarction [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Proteinuria [HPO term]
- Respiratory distress [HPO term]
- Reticulocytosis [HPO term]
- Schistocytosis [HPO term]
- Stroke [HPO term]
- Thrombocytopenia [HPO term]
- Transient ischemic attack [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Congenital thrombotic thrombocytopenic purpura [ORDO Disease]
- Thrombotic thrombocytopenic purpura [ORDO Disease]
See also inter- (CISMeF)
- microangiopathic hemolytic anemia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Thrombotic Thrombocytopenic Purpura [NCIt concept]
- Congenital thrombotic thrombocytopenic purpura [ORDO Disease]
- Upshaw-Schulman syndrome (disorder) [SNOMED CT concept]
- congenital thrombotic thrombocytopenic purpura [MeSH concept]

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