Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia. More detailed information about the symptoms, causes, and treatments of Alport syndrome with macrothrombocytopenia is available below.
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Alport syndrome with macrothrombocytopenia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alport syndrome with macrothrombocytopenia, or a subtype of Alport syndrome with macrothrombocytopenia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Alport syndrome with macrothrombocytopenia as a "rare disease".
Source - Orphanet
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