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Hereditary amyloidosis

MONDO:0018634

Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.

Also known as: amyloidosis, Familial, hereditary amyloidosis (disease), amyloidosis hereditary, familial amyloidosis

82 clinical trials for this condition and its sub-types, 19 tagged with Hereditary amyloidosis itself.

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Where it sits in the disease tree

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Part of

↑ Inborn errors of metabolism (2229) ↑ Amyloidosis (322)

Sub-types of Hereditary amyloidosis

Most studied deeper sub-types

ATTRV122I amyloidosis (7) ATTRV30M amyloidosis (4) ABeta amyloidosis, dutch type (1) ABetaA21G amyloidosis (0) ABeta amyloidosis, Arctic type (0) ABeta amyloidosis, Iowa type (0) ABeta amyloidosis, Italian type (0) ABetaL34V amyloidosis (0)
Including sub-types (82) Tagged with Hereditary amyloidosis (19)
Trials to join now! 31 Not yet recruiting 5 Not yet finished but already full! 18 Completed 26 Terminated 2
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