MCID: HRD039
MIFTS: 42

Hereditary Amyloidosis malady

Genetic category

Summaries for Hereditary Amyloidosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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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: Hereditary Amyloidosis, also known as amyloidosis hereditary, is related to amyloidosis and familial visceral amyloidosis. An important gene associated with Hereditary Amyloidosis is TTR (transthyretin), and among its related pathways are Packaging Of Telomere Ends and FOXA2 and FOXA3 transcription factor networks. The compounds trifluoroethanol and thioflavin t have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotype homeostasis/metabolism.

Wikipedia:64 Amyloids are insoluble fibrous protein aggregates sharing specific structural traits. They arise from at... more...

Aliases & Classifications for Hereditary Amyloidosis

Sources:
43NIH Rare Diseases, 22GTR, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

hereditary amyloidosis 43
amyloidosis hereditary 43 22 45
amyloidosis, hereditary 61
amyloidosis, familial 61
amyloidosis familial 45
familial amyloidosis 43


Related Diseases for Hereditary Amyloidosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hereditary Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2TTR, APOA1, APOA2, GSN, LYZ
2familial visceral amyloidosis30.4APOA1, FGA, LYZ
3finnish type amyloidosis30.2TTR, GSN
4familial transthyretin amyloidosis30.2APOA1, TTR, GSN
5amyloidosis, renal30.1TTR, APOA2, APOA1
6familial mediterranean fever30.1GSN
7arthritis29.9LYZ
8amyloid neuropathy29.9TTR, APOA1, GSN
9transthyretin amyloidosis10.5
10primary cutaneous amyloidosis10.2
11amyloidosis corneal10.2
12familial amyloid cardiomyopathy10.2
13familial restrictive cardiomyopathy10.2
14amyloidosis aa10.1
15hereditary cerebral hemorrhage with amyloidosis10.1
16amyloidosis, hereditary renal10.1
17lattice corneal dystrophy10.1
18carpal tunnel syndrome10.0
19al amyloidosis10.0
20amyloidosis cerebral10.0
21familial amyloidosis, finnish type10.0
22familial amyloid polyneuropathy type 110.0
23familial oculoleptomeningeal amyloidosis10.0
24lattice corneal dystrophy type ii10.0
25senile systemic amyloidosis10.0
26familial renal amyloidosis due to fibrinogen a alpha-chain variant10.0
27hepatitis10.0TTR
28galactosemia10.0TTR
29eye disease10.0LYZ
30hypothyroidism10.0TTR
31hyperthyroidism10.0APOA2
32crohn's disease10.0LYZ
33hypertension10.0APOA1
34cerebral amyloid angiopathy10.0TTR
35abetalipoproteinemia10.0APOA1
36alagille syndrome10.0APOA1
37protein s deficiency10.0FGA
38hemorrhage, intracerebral10.0TTR, GSN
39amyloidosis, secondary10.0TTR, APOA1
40fish-eye disease10.0APOA2, APOA1
41norum disease10.0APOA1, APOA2
42complete lcat deficiency10.0APOA1, APOA2
43familial hypertriglyceridemia10.0APOA2, APOA1
44hypoalphalipoproteinemia10.0APOA2, APOA1
45hyperalphalipoproteinemia10.0APOA2, APOA1
46familial combined hyperlipidemia10.0APOA2, APOA1
47tangier disease10.0APOA1, APOA2
48polyneuropathy10.0GSN, APOA2, TTR
49amyloid tumor10.0GSN, APOA2, TTR
50stroke, ischemic10.0FGA, APOA2

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



Diseases related to hereditary amyloidosis

Clinical Features for Hereditary Amyloidosis

Drugs & Therapeutics for Hereditary Amyloidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hereditary Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Hereditary Amyloidosis

Search NIH Clinical Center for Hereditary Amyloidosis

Search CenterWatch for Hereditary Amyloidosis

Genetic Tests for Hereditary Amyloidosis

Sources:
22GTR
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Genetic tests related to Hereditary Amyloidosis:

id Genetic test Affiliating Genes
1 Amyloidosis Hereditary22

Anatomical Context for Hereditary Amyloidosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Amyloidosis:

33
Skin, Liver, Brain, Kidney

Animal Models for Hereditary Amyloidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hereditary Amyloidosis:

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

Publications for Hereditary Amyloidosis

Sources:
51PubMed
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Articles related to Hereditary Amyloidosis:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
AA amyloidosis complicating the hereditary periodic fever syndromes. (23280696)
2013
2
Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. (23964755)
2013
3
Guideline of transthyretin-related hereditary amyloidosis for clinicians. (23425518)
2013
4
Loss of gastric interstitial cells of Cajal in patients with hereditary transthyretin amyloidosis. (23642163)
2013
5
Small heat shock proteins associated with cerebral amyloid angiopathy of hereditary cerebral hemorrhage with amyloidosis (Dutch type) induce interleukin-6 secretion. (17629591)
2009
6
Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa. (17720986)
2008
7
Cerebral vascular accumulation of Dutch-type Abeta42, but not wild-type Abeta42, in hereditary cerebral hemorrhage with amyloidosis, Dutch type. (17628026)
2007
8
A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes. (17048217)
2006
9
Organ transplantation in hereditary apolipoprotein AI amyloidosis. (16925563)
2006
10
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. (16468976)
2006
11
Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins. (16439680)
2006
12
Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type. (15824369)
2005
13
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. (16221199)
2005
14
Glial reactions and the clearance of amyloid beta protein in the brains of patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type. (15014955)
2004
15
Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. (12605128)
2003
16
Enhanced Abeta40 deposition was associated with increased Abeta42-43 in cerebral vasculature with Dutch-type hereditary cerebral hemorrhage with amyloidosis (HCHWA-D). (12480745)
2002
17
Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. (14987380)
2002
18
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. (11401442)
2001
19
Clinical and biochemical outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg. (11349736)
2001
20
Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (11299325)
2001
21
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. (10845569)
2000
22
Amyloid beta protein (Abeta) starts to deposit as plasma membrane-bound form in diffuse plaques of brains from hereditary cerebral hemorrhage with amyloidosis-Dutch type, Alzheimer disease and nondemented aged subjects. (10952062)
2000
23
Liver transplantation for hereditary transthyretin amyloidosis. (10827225)
2000
24
Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. (10455100)
1999
25
Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. (9767365)
1998
26
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (9605286)
1998
27
Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I. (9461086)
1998
28
The length of amyloid-beta in hereditary cerebral hemorrhage with amyloidosis, Dutch type. Implications for the role of amyloid-beta 1-42 in Alzheimer's disease. (8943274)
1996
29
Cortical tissue of patients with hereditary cerebral hemorrhage with amyloidosis (Dutch) contains various extracellular matrix deposits. (7637318)
1995
30
Microglia in diffuse plaques in hereditary cerebral hemorrhage with amyloidosis (Dutch). An immunohistochemical study. (7521904)
1994
31
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. (7951260)
1994
32
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France. (8110416)
1993
33
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. (1301926)
1992
34
Hereditary amyloidosis and cardiomyopathy. (1626556)
1992
35
Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis-Dutch type share a decrease in cerebrospinal fluid levels of amyloid beta-protein precursor. (1510361)
1992
36
Hereditary cerebral hemorrhage with amyloidosis--Dutch type: its importance for Alzheimer research. (1716015)
1991
37
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. (2176164)
1990
38
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. (2153578)
1990
39
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. (2154345)
1990
40
Parenchymal preamyloid and amyloid deposits in the brains of patients with hereditary cerebral hemorrhage with amyloidosis--Dutch type. (2274275)
1990
41
Hereditary amyloidosis: evidence against early amyloid deposition. (2510740)
1989
42
The clinical and biochemical spectrum of hereditary amyloidosis. (2847318)
1988
43
Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. (2436360)
1987
44
Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. (3030336)
1987
45
Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. (3722385)
1986
46
Chemical classification of hereditary amyloidosis in Brazilian families and identification of gene carriers. (3820203)
1986
47
Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. (6390199)
1984
48
Erosive arthritis in hereditary amyloidosis. (6615565)
1983
49
Neurophysiological studies in hereditary amyloidosis with polyneuropathy. (5033714)
1972
50
Hereditary amyloidosis of the cornea. (5310277)
1970

Genetic Variations for Hereditary Amyloidosis

Expression for genes affiliated with Hereditary Amyloidosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 50PharmGKB
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Compounds for genes affiliated with Hereditary Amyloidosis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
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Compounds related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol45 1111.4TTR
2thioflavin t4510.0TTR, GSN
3retinyl palmitate45 2410.8APOA1, TTR
4tocopherol459.8APOA1, TTR
5guanidine45 11 2411.8TTR, APOA1
625-hydroxyvitamin d459.7TTR, APOA1
7p-opc459.7APOA1, APOA2
8dimyristoylphosphatidylcholine459.7APOA1, APOA2
9intralipid459.7APOA1, APOA2
10gemfibrozil45 29 1111.7APOA1, APOA2
11cholesterol ester459.7APOA2, APOA1
12bezafibrate45 29 1111.6APOA1, APOA2
13vitamin b12459.6TTR, APOA1
14cellulose acetate459.6FGA, TTR
15fenofibrate45 50 1111.6APOA2, APOA1
16cacl2459.6GSN, FGA
17serine459.5FGA, APOA2
18guanidine hydrochloride459.5TTR, APOA1
19methionine459.4APOA2, GSN, TTR
20uric acid45 2410.4APOA1, TTR
21iohexol459.4FGA, APOA1
22Alpha-D-Mannose119.4FGA, LYZ
23mspi459.3APOA1, APOA2, TTR
24leucine459.3APOA2, TTR, GSN
25triiodothyronine459.2TTR, APOA2
26triacylglycerol459.2APOA1, APOA2
27phospholipid459.2GSN, APOA2, APOA1
28aspartate459.2APOA1, TTR, GSN
29malondialdehyde459.1APOA2, FGA
30aspirin45 50 29 2412.0APOA1, FGA, TTR
31lactate458.9TTR, FGA, APOA1
32creatinine458.8FGA, APOA1, TTR
33retinoic acid45 249.8GSN, APOA1, APOA2, TTR
34glucose458.8APOA1, TTR, GSN, APOA2
35heparin45 29 11 2411.8FGA, APOA2, GSN
36cholesterol45 29 11 2411.5TTR, FGA, APOA2, APOA1
37lipid458.3GSN, APOA1, APOA2, FGA
38fibrinogen458.1FGA, GSN, TTR, APOA2, APOA1

GO Terms for genes affiliated with Hereditary Amyloidosis

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:0343649.3APOA2, APOA1
2spherical high-density lipoprotein particleGO:0343669.2APOA2, APOA1
3very-low-density lipoprotein particleGO:0343619.0APOA2, APOA1
4extracellular spaceGO:0056157.6APOA1, FGA, TTR, LYZ, GSN
5extracellular regionGO:0055767.2GSN, LYZ, TTR, FGA, APOA2, APOA1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.7APOA1, APOA2
2negative regulation of lipase activityGO:0601929.7APOA1, APOA2
3regulation of intestinal cholesterol absorptionGO:0303009.7APOA2, APOA1
4high-density lipoprotein particle assemblyGO:0343809.7APOA1, APOA2
5protein oxidationGO:0181589.6APOA2, APOA1
6negative regulation of cytokine secretion involved in immune responseGO:0027409.6APOA1, APOA2
7peptidyl-methionine modificationGO:0182069.6APOA1, APOA2
8high-density lipoprotein particle clearanceGO:0343849.6APOA1, APOA2
9positive regulation of cholesterol esterificationGO:0108739.6APOA1, APOA2
10phospholipid effluxGO:0337009.6APOA2, APOA1
11high-density lipoprotein particle remodelingGO:0343759.6APOA2, APOA1
12reverse cholesterol transportGO:0436919.5APOA1, APOA2
13cholesterol effluxGO:0333449.5APOA2, APOA1
14phosphatidylcholine biosynthetic processGO:0066569.5APOA1, APOA2
15lipoprotein metabolic processGO:0421579.4APOA2, APOA1
16organ regenerationGO:0311009.4APOA2, APOA1
17response to estrogen stimulusGO:0436279.3APOA1, APOA2
18retinoid metabolic processGO:0015239.3TTR, APOA2, APOA1
19cholesterol homeostasisGO:0426329.2APOA1, APOA2
20phototransduction, visible lightGO:0076039.2TTR, APOA1, APOA2
21platelet degranulationGO:0025769.0APOA1, FGA
22cholesterol metabolic processGO:0082039.0APOA2, APOA1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:0706539.5APOA1, APOA2
2apolipoprotein receptor bindingGO:0341909.5APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.4APOA1, APOA2
4lipase inhibitor activityGO:0551029.4APOA1, APOA2
5high-density lipoprotein particle bindingGO:0080359.3APOA2, APOA1
6cholesterol transporter activityGO:0171279.2APOA1, APOA2
7cholesterol bindingGO:0154859.0APOA1, APOA2
8identical protein bindingGO:0428028.9TTR, APOA1, LYZ

Products for genes affiliated with Hereditary Amyloidosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Amyloidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet