Hereditary multisystemic disease

A hereditary multisystem disease is a congenital, often autosomal dominant, but also autosomal recessive (e.g. cystic fibrosis) inherited disease that affects several organ systems (Vogelberg 2022).

Hereditary multisystemic diseases include a large number of diseases, such as:

- HERNS (hereditary endotheliopathy with retinopathy, nephropathy and stroke) (Seihfried 2005)

- Hereditary transthyretin amyloidosis (Wedekind 2022)

- Fabry disease

- Cystic fibrosis

- Alström syndrome (Weichenhain 1997)

- NLSD- I = Chanarin- Dorfman syndrome (Diener 2023)

- Von Hippel- Landau disease (Schaps 2007)

- Hereditary ATTR amyloidosis (Ihne 2020) and many more

Hereditary multisystem diseases are generally relatively rare. The most common autosomal recessive multisystem disease is cystic fibrosis (Vogelberg 2022).

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