MCID: HRD039
MIFTS: 48

Hereditary Amyloidosis malady

Genetic diseases, Rare diseases, Metabolic diseases, Immune diseases, Neuronal diseases, Nephrological diseases, Bone diseases, Blood diseases, Cancer diseases categories
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Summaries for Hereditary Amyloidosis

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NIH Rare Diseases:42 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 transthyretin amyloidosis. 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 sharing specific structural traits. They arise from at... more...

Aliases & Classifications for Hereditary Amyloidosis

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Sources:
42NIH Rare Diseases, 22GTR, 44Novoseek, 62UMLS
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Hereditary Amyloidosis, Aliases & Descriptions:

Name: Hereditary Amyloidosis 42
Amyloidosis Hereditary 42 22 44
Amyloidosis, Hereditary 62
 
Amyloidosis, Familial 62
Amyloidosis Familial 44
Familial Amyloidosis 42


Classifications:



Related Diseases for Hereditary Amyloidosis

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Diseases in the Amyloidosis family:

Al Amyloidosis Amyloidosis Aa
hereditary amyloidosis Primary Localized Amyloidosis

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis30.5GSN, TTR, APOA1, LYZ, APOA2
2transthyretin amyloidosis30.4TTR, APOA1, GSN
3finnish type amyloidosis30.4TTR, GSN
4polyneuropathy30.2GSN, TTR, APOA2
5familial visceral amyloidosis29.9FGA, APOA1, LYZ
6spiradenoma10.4LYZ
7hereditary cerebral hemorrhage with amyloidosis10.3
8primary cutaneous amyloidosis10.3
9hemorrhage, intracerebral10.2GSN, TTR
10amyloidosis, secondary10.2APOA1, TTR
11familial mediterranean fever10.2
12restrictive cardiomyopathy10.2
13cerebral amyloid angiopathy10.2
14coronary stenosis10.1APOA1, FGA
15amyloidosis corneal10.1
16thromboembolism10.1APOA1, FGA
17primary hyperoxaluria10.1LYZ, APOA1
18fish-eye disease10.1APOA1, APOA2
19complete lcat deficiency10.1APOA2, APOA1
20amyloid neuropathy10.1TTR, APOA1, GSN
21norum disease10.1APOA1, APOA2
22familial hypertriglyceridemia10.0APOA2, APOA1
23nephrotic syndrome10.0FGA, APOA1
24hyperalphalipoproteinemia10.0APOA2, APOA1
25hypoalphalipoproteinemia10.0APOA2, APOA1
26tangier disease10.0APOA2, APOA1
27liver cirrhosis10.0TTR, FGA
28familial combined hyperlipidemia10.0APOA1, APOA2
29arthritis10.0
30hepatitis10.0
31carpal tunnel syndrome10.0
32neuropathy10.0
33peripheral neuropathy10.0
34retinitis10.0
35familial amyloidosis, finnish type10.0
36familial amyloid polyneuropathy type 110.0
37familial oculoleptomeningeal amyloidosis10.0
38senile systemic amyloidosis10.0
39familial renal amyloidosis due to fibrinogen a alpha-chain variant10.0
40coronary artery anomaly10.0FGA, APOA1
41hepatoblastoma10.0APOA1, APOA2
42sepsis10.0GSN, FGA, TTR
43acute myocardial infarction10.0FGA, APOA1
44hypertriglyceridemia10.0APOA1, APOA2
45stroke, ischemic10.0FGA, APOA2
46sick sinus syndrome10.0
47presbyopia10.0
48familial medullary thyroid carcinoma10.0
49lattice corneal dystrophy10.0
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 Hereditary22

Anatomical Context for Hereditary Amyloidosis

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MalaCards organs/tissues related to Hereditary Amyloidosis:

32
Liver, Eye, Kidney, Testes

Animal Models for Hereditary Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Amyloidosis:

36
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
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France. (8110416)
1993
29
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. (1353040)
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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Expression patterns in normal tissues for genes affiliated with Hereditary Amyloidosis

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)37
9.1APOA1, APOA2
5
Show member pathways
9.1APOA2, APOA1
69.1APOA1, APOA2
7
Show member pathways
9.1APOA2, APOA1
89.1APOA1, APOA2
9
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
9.0APOA2, FGA
10
Show member pathways
8.7APOA2, APOA1, TTR
11
Show member pathways
8.1TTR, APOA1, APOA2, FGA
12
Show member pathways
7.9TTR, APOA1, LYZ, GSN, FGA
137.1FGA, GSN, LYZ, APOA2, APOA1, TTR

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 t4410.0GSN, TTR
2trifluoroethanol44 1111.0GSN, TTR
3retinyl palmitate44 2411.0APOA1, TTR
4tocopherol449.9APOA1, TTR
5guanidine44 24 1111.9APOA1, TTR
625-hydroxyvitamin d449.9TTR, APOA1
7vitamin b12449.8APOA1, TTR
8cellulose acetate449.8TTR, FGA
9guanidine hydrochloride449.8TTR, APOA1
10cacl2449.8FGA, GSN
11iohexol449.8FGA, APOA1
12uric acid44 2410.7APOA1, TTR
13carnitine449.7APOA1, TTR
14sodium dodecylsulfate449.6GSN, TTR
15alpha tocopherol449.6APOA1, TTR
16p-opc449.6APOA1, APOA2
17dimyristoylphosphatidylcholine449.5APOA1, APOA2
18intralipid449.5APOA2, APOA1
19latex449.5GSN, FGA
20gemfibrozil28 44 1111.5APOA1, APOA2
21cholesterol ester449.5APOA2, APOA1
22bezafibrate44 28 1111.5APOA2, APOA1
23triiodothyronine449.5APOA2, TTR
24homocysteine44 2410.4TTR, APOA1
25fenofibrate44 50 1111.4APOA2, APOA1
26aspartate449.4TTR, APOA1, GSN
27triacylglycerol449.4APOA2, APOA1
28aspirin44 50 28 2412.3FGA, APOA1, TTR
29testosterone44 61 24 1112.3TTR, APOA1, GSN
30malondialdehyde449.3APOA2, FGA
31lactate449.3TTR, APOA1, FGA
32creatinine449.3FGA, APOA1, TTR
33methionine449.2TTR, APOA2, GSN
34mspi449.2TTR, APOA1, APOA2
35leucine449.1TTR, APOA2, GSN
36alanine449.1GSN, APOA1, TTR
37phospholipid449.1GSN, APOA2, APOA1
38heparin44 28 24 1111.9APOA2, GSN, FGA
39glutamate448.8GSN, APOA1, TTR
40retinoic acid44 249.7TTR, APOA1, APOA2, GSN
41glucose448.7GSN, APOA2, APOA1, TTR
42cholesterol44 28 24 1111.5TTR, APOA1, APOA2, FGA
43lipid448.4FGA, GSN, APOA2, APOA1
44fibrinogen448.1FGA, GSN, APOA2, APOA1, TTR
45serine448.1FGA, 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:0343669.1APOA2, APOA1
2very-low-density lipoprotein particleGO:0343619.0APOA2, APOA1
3high-density lipoprotein particleGO:0343648.8APOA1, APOA2
4extracellular spaceGO:0056158.4FGA, LYZ, APOA1, TTR
5blood microparticleGO:0725628.2FGA, GSN, APOA2, APOA1
6extracellular vesicular exosomeGO:0700627.6APOA1, APOA2, LYZ, GSN, FGA
7extracellular regionGO:0055767.2TTR, 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:0109039.5APOA2, APOA1
2negative regulation of lipase activityGO:0601929.5APOA2, APOA1
3regulation of intestinal cholesterol absorptionGO:0303009.5APOA1, APOA2
4high-density lipoprotein particle assemblyGO:0343809.5APOA1, APOA2
5protein oxidationGO:0181589.4APOA1, APOA2
6negative regulation of cytokine secretion involved in immune responseGO:0027409.4APOA1, APOA2
7high-density lipoprotein particle clearanceGO:0343849.4APOA1, APOA2
8peptidyl-methionine modificationGO:0182069.4APOA1, APOA2
9positive regulation of cholesterol esterificationGO:0108739.4APOA2, APOA1
10phospholipid effluxGO:0337009.4APOA1, APOA2
11high-density lipoprotein particle remodelingGO:0343759.4APOA2, APOA1
12reverse cholesterol transportGO:0436919.4APOA2, APOA1
13cholesterol effluxGO:0333449.3APOA1, APOA2
14phosphatidylcholine biosynthetic processGO:0066569.3APOA2, APOA1
15lipoprotein metabolic processGO:0421579.3APOA2, APOA1
16organ regenerationGO:0311009.2APOA1, APOA2
17cholesterol homeostasisGO:0426329.2APOA2, APOA1
18response to estrogenGO:0436279.1APOA2, APOA1
19cellular lipid metabolic processGO:0442559.1APOA2, APOA1
20retinoid metabolic processGO:0015239.1APOA2, APOA1, TTR
21phototransduction, visible lightGO:0076039.1APOA2, APOA1, TTR
22cholesterol metabolic processGO:0082039.0APOA1, APOA2
23platelet degranulationGO:0025769.0FGA, APOA1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:0341909.3APOA2, APOA1
2high-density lipoprotein particle receptor bindingGO:0706539.3APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.3APOA2, APOA1
4lipase inhibitor activityGO:0551029.2APOA2, APOA1
5high-density lipoprotein particle bindingGO:0080359.2APOA1, APOA2
6cholesterol transporter activityGO:0171279.1APOA2, APOA1
7phospholipid bindingGO:0055439.1APOA2, APOA1
8cholesterol bindingGO:0154859.0APOA2, APOA1
9identical protein bindingGO:0428028.7TTR, APOA1, LYZ

Products for genes affiliated with Hereditary Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hereditary Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet