MCID: HRD039
MIFTS: 47

Hereditary Amyloidosis malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Nephrological diseases, Bone diseases, Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Hereditary Amyloidosis

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NIH Rare Diseases:43 Hereditary amyloidosis refers to a group of inherited conditions that make up one of the three major subtypes of amyloidosis. hereditary amyloidosis is characterized by the deposit of a specific type of protein called amyloid in multiple organs of the body where it should not be, which causes disruption organ tissue structure and function. each type of hereditary amyloidosis is the result of a mutation in a specific protein. the most common type of hereditary amyloidosis is transthyretin amyloidosis, a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. the signs and symptoms of transthyretin amyloidosis (a ttr) may include peripheral neuropathy; cardiomyopathy; or gastrointestinal, kidney, or eye problems. other examples of 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). last updated: 9/16/2011

MalaCards based summary: Hereditary Amyloidosis, also known as amyloidosis hereditary, is related to amyloidosis and amyloidosis, finnish type. An important gene associated with Hereditary Amyloidosis is TTR (transthyretin), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Ca, cAMP and Lipid Signaling. The compounds thioflavin t and trifluoroethanol have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and kidney, and related mouse phenotype homeostasis/metabolism.

Wikipedia:65 Amyloids are insoluble fibrous protein aggregates[disambiguation needed] sharing specific structural... more...

Aliases & Classifications for Hereditary Amyloidosis

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Sources:
43NIH Rare Diseases, 45Novoseek, 24GTR, 62UMLS
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Hereditary Amyloidosis, Aliases & Descriptions:

Name: Hereditary Amyloidosis 43
Amyloidosis Hereditary 43 45 24
Amyloidosis, Hereditary 62
 
Amyloidosis, Familial 62
Amyloidosis Familial 45
Familial Amyloidosis 43


Classifications:



Related Diseases for Hereditary Amyloidosis

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Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
hereditary amyloidosis Secondary Amyloidosis

Diseases related to Hereditary Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2GSN, TTR, APOA1, LYZ, APOA2
2amyloidosis, finnish type30.9TTR, GSN
3polyneuropathy30.3GSN, TTR, APOA2
4amyloidosis, hereditary, transthyretin-related30.2TTR, APOA1, GSN
5amyloidosis, familial visceral30.2TTR, APOA1, APOA2
6primary cutaneous amyloidosis10.3
7restrictive cardiomyopathy10.2
8familial amyloidosis, finnish type10.2
9corneal dystrophy, gelatinous drop-like10.1
10eye disease10.0LYZ
11hemorrhage, intracerebral10.0GSN, TTR
12secondary amyloidosis10.0APOA1, TTR
13coronary stenosis10.0APOA1, FGA
14cerebral amyloid angiopathy10.0
15arthritis10.0
16hepatitis10.0
17neuropathy10.0
18peripheral neuropathy10.0
19retinitis10.0
20al amyloidosis10.0
21familial amyloid polyneuropathy type 110.0
22familial oculoleptomeningeal amyloidosis10.0
23familial renal amyloidosis due to fibrinogen a alpha-chain variant10.0
24thrombophilia due to thrombin defect10.0APOA1, FGA
25kidney disease10.0LYZ, APOA1
26fish-eye disease10.0APOA1, APOA2
27amyloid neuropathy10.0TTR, APOA1, GSN
28norum disease10.0APOA1, APOA2
29hyperalphalipoproteinemia10.0APOA2, APOA1
30nephrotic syndrome10.0FGA, APOA1
31hypoalphalipoproteinemia10.0APOA2, APOA1
32tangier disease10.0APOA2, APOA1
33liver cirrhosis10.0TTR, FGA
34hyperlipidemia, familial combined10.0APOA1, APOA2
35coronary artery disease10.0FGA, APOA1
36hepatoblastoma10.0APOA1, APOA2
37hypertriglyceridemia10.0APOA1, APOA2
38acute myocardial infarction10.0FGA, APOA1
39lipid metabolism disorder10.0APOA2, APOA1
40stroke, ischemic10.0FGA, APOA2
41chronic kidney failure10.0TTR, APOA1, FGA
42familial hyperlipidemia10.0APOA1, APOA2
43amyloid tumor10.0GSN, TTR, APOA2
44hypertension, essential10.0APOA1, FGA
45hyperinsulinism10.0APOA2, APOA1
46diabetes mellitus, noninsulin-dependent10.0APOA2, APOA1, TTR
47hypercholesterolemia, familial10.0APOA1, FGA, APOA2
48lattice corneal dystrophy10.0
49presbyopia10.0
50steatorrhea10.0

Graphical network of the top 20 diseases related to Hereditary Amyloidosis:



Diseases related to hereditary amyloidosis

Symptoms for Hereditary Amyloidosis

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Drugs & Therapeutics for Hereditary Amyloidosis

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Drug clinical trials:

Search ClinicalTrials for Hereditary Amyloidosis

Search NIH Clinical Center for Hereditary Amyloidosis

Genetic Tests for Hereditary Amyloidosis

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Genetic tests related to Hereditary Amyloidosis:

id Genetic test Affiliating Genes
1 Amyloidosis Hereditary24

Anatomical Context for Hereditary Amyloidosis

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MalaCards organs/tissues related to Hereditary Amyloidosis:

33
Liver, Eye, Kidney, Testes

Animal Models for Hereditary Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Amyloidosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6FGA, GSN, APOA2, APOA1, TTR

Publications for Hereditary Amyloidosis

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Articles related to Hereditary Amyloidosis:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. (25044787)
2014
2
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. (24138840)
2013
3
Guideline of transthyretin-related hereditary amyloidosis for clinicians. (23425518)
2013
4
Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis. (23909501)
2013
5
Hereditary amyloidosis caused by R554L fibrinogen AI+-chain mutation in a Spanish family and review of the literature. (23551149)
2013
6
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. (22540225)
2012
7
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. (21135536)
2011
8
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. (20229579)
2010
9
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. (17600344)
2007
10
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. (16468976)
2006
11
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. (15995833)
2005
12
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. (15185496)
2004
13
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. (15131802)
2004
14
Hereditary amyloidosis. (12375595)
2002
15
Hereditary amyloidosis. (12374886)
2002
16
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (12050338)
2002
17
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. (11401442)
2001
18
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
19
Hereditary amyloidosis: some words on the history and present status of our eminent subject. (10842698)
2000
20
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. (10571824)
1999
21
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (9605286)
1998
22
Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. (9437328)
1998
23
Hereditary amyloidosis]. (9453203)
1997
24
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. (8566845)
1996
25
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. (7493166)
1995
26
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. (7951260)
1994
27
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. (8345958)
1993
28
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. (1353040)
1992
29
Amyloid cardiomyopathy in systemic non-hereditary amyloidosis. Clinical, echocardiographic and electrocardiographic findings in 30 patients with AA and 24 patients with AL amyloidosis. (1618203)
1992
30
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. (1301926)
1992
31
Hereditary amyloidosis and cardiomyopathy. (1626556)
1992
32
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. (1848334)
1991
33
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. (1849145)
1991
34
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. (1867256)
1991
35
Mutation in gelsolin gene in Finnish hereditary amyloidosis. (2175344)
1990
36
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. (2176164)
1990
37
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. (2153578)
1990
38
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. (2154345)
1990
39
Hereditary amyloidosis: evidence against early amyloid deposition. (2510740)
1989
40
Prenatal detection of a gene for hereditary amyloidosis. (2516414)
1989
41
The clinical and biochemical spectrum of hereditary amyloidosis. (2847318)
1988
42
Hereditary amyloidosis--disease entity and clinical model. (3126202)
1988
43
Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. (3722385)
1986
44
Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family. (2877582)
1986
45
Chemical classification of hereditary amyloidosis in Brazilian families and identification of gene carriers. (3820203)
1986
46
Erosive arthritis in hereditary amyloidosis. (6615565)
1983
47
Neurophysiological studies in hereditary amyloidosis with polyneuropathy. (5033714)
1972
48
Hereditary amyloidosis. (5533185)
1970
49
Hereditary amyloidosis with polyneuropathy. (5507249)
1970
50
Hereditary amyloidosis, the flexor retinaculum, and the carpal tunnel syndrome. (5353839)
1969

Variations for Hereditary Amyloidosis

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Expression for genes affiliated with Hereditary Amyloidosis

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Search GEO for disease gene expression data for Hereditary Amyloidosis.

Pathways for genes affiliated with Hereditary Amyloidosis

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Pathways related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5APOA1, TTR
29.5GSN, APOA1
3
Show member pathways
9.3FGA, APOA1
4
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.1APOA1, APOA2
5
Show member pathways
9.1APOA1, APOA2
69.1APOA2, APOA1
7
Show member pathways
9.1APOA2, APOA1
89.1APOA2, APOA1
9
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
9.0APOA2, FGA
10
Show member pathways
8.7APOA2, APOA1, TTR
11
Show member pathways
8.1APOA1, FGA, TTR, APOA2
12
Show member pathways
7.9TTR, APOA1, LYZ, GSN, FGA
137.1TTR, FGA, GSN, LYZ, APOA2, APOA1

Compounds for genes affiliated with Hereditary Amyloidosis

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Compounds related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

(show all 45)
idCompoundScoreTop Affiliating Genes
1thioflavin t4510.0GSN, TTR
2trifluoroethanol45 1311.0GSN, TTR
3retinyl palmitate45 2611.0APOA1, TTR
4tocopherol459.9APOA1, TTR
5guanidine45 26 1311.9APOA1, TTR
625-hydroxyvitamin d459.9TTR, APOA1
7vitamin b12459.8APOA1, TTR
8cellulose acetate459.8TTR, FGA
9guanidine hydrochloride459.8TTR, APOA1
10cacl2459.8FGA, GSN
11iohexol459.8FGA, APOA1
12uric acid45 2610.7APOA1, TTR
13carnitine459.7APOA1, TTR
14sodium dodecylsulfate459.6GSN, TTR
15alpha tocopherol459.6APOA1, TTR
16p-opc459.6APOA1, APOA2
17dimyristoylphosphatidylcholine459.5APOA1, APOA2
18intralipid459.5APOA2, APOA1
19latex459.5GSN, FGA
20gemfibrozil30 45 1311.5APOA1, APOA2
21cholesterol ester459.5APOA2, APOA1
22bezafibrate45 30 1311.5APOA2, APOA1
23triiodothyronine459.5APOA2, TTR
24homocysteine45 2610.4TTR, APOA1
25fenofibrate45 51 1311.4APOA2, APOA1
26aspartate459.4TTR, APOA1, GSN
27triacylglycerol459.4APOA2, APOA1
28aspirin45 51 30 2612.3FGA, APOA1, TTR
29testosterone45 61 26 1312.3TTR, APOA1, GSN
30malondialdehyde459.3APOA2, FGA
31lactate459.3TTR, APOA1, FGA
32creatinine459.3FGA, APOA1, TTR
33methionine459.2TTR, APOA2, GSN
34mspi459.2TTR, APOA1, APOA2
35leucine459.1TTR, APOA2, GSN
36alanine459.1GSN, APOA1, TTR
37phospholipid459.1GSN, APOA2, APOA1
38heparin45 30 26 1311.9APOA2, GSN, FGA
39glutamate458.8GSN, APOA1, TTR
40retinoic acid45 269.7TTR, APOA1, APOA2, GSN
41glucose458.7GSN, APOA2, APOA1, TTR
42cholesterol45 30 26 1311.5TTR, APOA1, APOA2, FGA
43lipid458.4FGA, GSN, APOA2, APOA1
44fibrinogen458.1FGA, GSN, APOA2, APOA1, TTR
45serine458.1FGA, GSN, APOA2, APOA1, TTR

GO Terms for genes affiliated with Hereditary Amyloidosis

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Cellular components related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:00343669.1APOA2, APOA1
2very-low-density lipoprotein particleGO:00343619.0APOA2, APOA1
3high-density lipoprotein particleGO:00343648.8APOA1, APOA2
4extracellular spaceGO:00056158.4FGA, LYZ, APOA1, TTR
5blood microparticleGO:00725628.2FGA, GSN, APOA2, APOA1
6extracellular vesicular exosomeGO:00700627.6APOA1, APOA2, LYZ, GSN, FGA
7extracellular regionGO:00055767.2TTR, APOA1, APOA2, LYZ, GSN, FGA

Biological processes related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of very-low-density lipoprotein particle remodelingGO:00109039.5APOA2, APOA1
2negative regulation of lipase activityGO:00601929.5APOA2, APOA1
3regulation of intestinal cholesterol absorptionGO:00303009.5APOA1, APOA2
4high-density lipoprotein particle assemblyGO:00343809.5APOA1, APOA2
5protein oxidationGO:00181589.4APOA1, APOA2
6negative regulation of cytokine secretion involved in immune responseGO:00027409.4APOA1, APOA2
7high-density lipoprotein particle clearanceGO:00343849.4APOA1, APOA2
8peptidyl-methionine modificationGO:00182069.4APOA1, APOA2
9positive regulation of cholesterol esterificationGO:00108739.4APOA2, APOA1
10phospholipid effluxGO:00337009.4APOA1, APOA2
11high-density lipoprotein particle remodelingGO:00343759.4APOA2, APOA1
12reverse cholesterol transportGO:00436919.4APOA2, APOA1
13cholesterol effluxGO:00333449.3APOA1, APOA2
14phosphatidylcholine biosynthetic processGO:00066569.3APOA2, APOA1
15lipoprotein metabolic processGO:00421579.3APOA2, APOA1
16organ regenerationGO:00311009.2APOA1, APOA2
17cholesterol homeostasisGO:00426329.2APOA2, APOA1
18response to estrogenGO:00436279.1APOA2, APOA1
19cellular lipid metabolic processGO:00442559.1APOA2, APOA1
20retinoid metabolic processGO:00015239.1APOA2, APOA1, TTR
21phototransduction, visible lightGO:00076039.1APOA2, APOA1, TTR
22cholesterol metabolic processGO:00082039.0APOA1, APOA2
23platelet degranulationGO:00025769.0FGA, APOA1

Molecular functions related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:00341909.3APOA2, APOA1
2high-density lipoprotein particle receptor bindingGO:00706539.3APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.3APOA2, APOA1
4lipase inhibitor activityGO:00551029.2APOA2, APOA1
5high-density lipoprotein particle bindingGO:00080359.2APOA1, APOA2
6cholesterol transporter activityGO:00171279.1APOA2, APOA1
7phospholipid bindingGO:00055439.1APOA2, APOA1
8cholesterol bindingGO:00154859.0APOA2, APOA1
9identical protein bindingGO:00428028.7TTR, APOA1, LYZ

Products for genes affiliated with Hereditary Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hereditary Amyloidosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet