haemolytic-uraemic syndrome, atypical type 6

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haemolytic-uraemic syndrome, atypical type 6

An atypical form (OMIM:612926) of haemolytic-uraemic syndrome that is characterised by microangiopathic haemolytic anaemia, thrombocytopaenia, renal failure and, in contrast to non-atypical haemolytic-uraemic syndrome, no episodic enterocolitis or diarrhoea. Atypical haemolytic uraemic syndrome has a poorer prognosis, higher death rates and greater progression to end-stage renal disease. It has been linked to a defect in THBD, which encodes an endothelial-specific type-I membrane receptor that binds thrombin, activating protein C.