Thrombocytopenia Deletion / Duplication Panel

Imported from OMIM

Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see 188030). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by Joly et al., 2018).

Imported from Human Phenotype Ontology (HPO)

• Transient ischemic attack
• Confusion
• Fever
• Hemolytic-uremic syndrome
• Jaundice
• Myocardial infarction
• Proteinuria
• Stroke
• Thrombocytopenia
• Tremor
• Increased blood urea nitrogen
• Abnormal renal physiology
• Reticulocytosis
• Microangiopathic hemolytic anemia
• Microscopic hematuria
• Schistocytosis
• Respiratory distress
• Elevated circulating creatinine concentration
• Increased serum lactate
• Prolonged neonatal jaundice