Details of Disease

General Information of Disease (ID: DIS1GS6H)

Disease Name	Hereditary amyloidosis
Synonyms	amyloidosis hereditary; familial amyloidosis; hereditary amyloidosis (disease); amyloidosis, Familial
Disease Class	5D00: Amyloidosis
Definition	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 A-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.
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISHTAI2: Amyloidosis DIS1GS6H: Hereditary amyloidosis
ICD Code	ICD-11 ICD-11: 5D00.2 ICD-10 ICD-10: E85.2 Expand ICD-11 '5D00.2 Expand ICD-10 'E85.2
Disease Identifiers	MONDO ID MONDO_0018634 MESH ID D028226 UMLS CUI C0740340 MedGen ID 148146 Orphanet ID 444116 SNOMED CT ID 3.68E+14

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Inotersen	DMJ93CT	Approved	Antisense drug	[1]
Patisiran	DMWSA0V	Approved	siRNA drug	[1]
Tafamidis meglumine	DMXRK1D	Approved	Small molecular drug	[2]
Vutrisiran	DMM1Z9G	Approved	Small interfering RNA	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RET	TT4DXQT	moderate	Biomarker	[4]
APOA1	TT5S8DR	Strong	Genetic Variation	[5]
FURIN	TTH9WF6	Strong	Genetic Variation	[6]
TTR	TTPOYU7	Strong	Biomarker	[7]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGA	OTMIHY80	Strong	Biomarker	[8]
ITM2B	OTMXEPXB	Strong	Genetic Variation	[9]
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References

1	2018 FDA drug approvals.Nat Rev Drug Discov. 2019 Feb;18(2):85-89.
2	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health Human Services. 2019
3	FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 215515.
4	Frequent association between MEN 2A and cutaneous lichen amyloidosis.Clin Endocrinol (Oxf). 2003 Aug;59(2):156-61. doi: 10.1046/j.1365-2265.2003.01782.x.
5	Cell milieu significantly affects the fate of AApoAI amyloidogenic variants: predestination or serendipity?.Biochim Biophys Acta Gen Subj. 2018 Mar;1862(3):377-384. doi: 10.1016/j.bbagen.2017.11.018. Epub 2017 Nov 23.
6	Gelsolin domain 2 Ca2+ affinity determines susceptibility to furin proteolysis and familial amyloidosis of finnish type.J Mol Biol. 2003 Nov 14;334(1):119-27. doi: 10.1016/j.jmb.2003.09.029.
7	Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.Eur J Hum Genet. 2019 May;27(5):783-791. doi: 10.1038/s41431-019-0337-1. Epub 2019 Jan 25.
8	A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.Blood. 1996 May 15;87(10):4197-203.
9	Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.Acta Neuropathol. 2009 Jul;118(1):115-30. doi: 10.1007/s00401-009-0501-8. Epub 2009 Feb 19.