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Amyloidosis
- Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave- ...
- Transthyretin amyloidosis is a progressive condition characterized by the buildup of abnormal protein deposits called amyloids (amyloidosis) in the body's organs and tissues. These ...
- ... symptoms. Amyloid cranial neuropathy with lattice corneal dystrophy Amyloidosis due to mutant gelsolin Amyloidosis V Amyloidosis, Finnish type Amyloidosis, Meretoja type Familial ...
- ... sporadic and are not inherited. Autosomal dominant cerebrovascular amyloidosis CAA, familial Cerebral amyloid angiopathy, familial Cerebral amyloid ... HCHWA-D HCHWA-I Hereditary cerebral hemorrhage with amyloidosis-Dutch type Hereditary cerebral hemorrhage with amyloidosis-Icelandic ...
- ... called mutations) in the TTR gene cause transthyretin amyloidosis. Nearly all of these variants change one protein ... most common variant found in people with transthyretin amyloidosis replaces the amino acid valine with the amino ...
- ... increases the risk of a serious complication called amyloidosis. Amyloidosis involves the buildup of protein deposits that can ... two to seven times more likely to develop amyloidosis than are people with the beta or gamma ...
- ... have been found to cause primary localized cutaneous amyloidosis (PLCA) type 1, an itchy skin condition in ... receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet. 2008 Jan;82(1): ...
- ... the sole source of amyloid in gelsolin-related amyloidosis. Hum Mol Genet. 1996 Sep;5(9):1237- ... B. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med. 1990 Dec 1;172(6): ...
- ... some cases of a condition called hereditary renal amyloidosis, which causes impairment of kidney (renal) function and ... proteins, and the condition is sometimes called fibrinogen amyloidosis. The mutations involved in this condition typically change ...
- ... can also cause a condition called familial visceral amyloidosis, which is characterized by an abnormal accumulation of proteins (amyloidosis) in internal organs (viscera). The mutations that cause ...
