MeSH

A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.

Diseases in which there is a familial pattern of AMYLOIDOSIS.

Year introduced: 2002

A nonproliferative disorder of PLASMA CELLS characterized by excessive production and misfolding of IMMUNOGLOBULIN LIGHT CHAINS that form insoluble amyloid fibrils (see AMYLOID DEPOSITS) in various tissues. Clinical features include LIVER FAILURE; MULTIPLE MYELOMA; NEPHROTIC SYNDROME; RESTRICTIVE CARDIOMYOPATHY, and neuropathies.

Year introduced: 2018(2010)

PROM mutation in gelsolin

Date introduced: August 25, 2010

A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES.

Year introduced: 2002

Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.

Year introduced: 2002

Date introduced: August 25, 2010

A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations.

Year introduced: 2010

Hereditary disorder characterized by AMYLOID DEPOSITS in the EXTRACELLULAR MATRIX of different tissues. Patients present POLYNEUROPATHY; CARPAL TUNNEL SYNDROME, autonomic insufficiency, CARDIOMYOPATHY, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified. OMIM: 105210

Date introduced: November 5, 2012

Date introduced: November 5, 2012

Date introduced: August 25, 2010

A hereditary autosomal recessive corneal dystrophy characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, PHOTOPHOBIA, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair VISUAL ACUITY, and CORNEAL TRANSPLANTATION is required for most patients. Mutations in the TACSTD2 gene have been identified. OMIM: 204870

Date introduced: August 25, 2010

An autosomal dominant type of familial amyloidosis that is characterized by PRURITIS and skin scratching and histologically by the finding of deposits of AMYLOID staining on keratinous debris in the papillary DERMIS. Mutations in the OSMR gene have been identified. OMIM: 105250

Date introduced: November 5, 2012

amyloidosis characterized by extracellular deposition of fibrils of SERUM AMYLOID A PROTEIN

Date introduced: August 19, 2021

Date introduced: October 1, 2020

Date introduced: November 5, 2012

Date introduced: November 5, 2012

Date introduced: November 5, 2012

accumulation of amyloid in the walls of cerebral arteries

Date introduced: August 25, 2010

Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system

Date introduced: August 25, 2010