MCID: HRD039
MIFTS: 35

Hereditary Amyloidosis malady

Genetic diseases category

Summaries for Hereditary Amyloidosis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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 liver, kidney and eye, and related mouse phenotype homeostasis/metabolism.

Wikipedia:63 Amyloids are insoluble fibrous protein aggregates sharing specific structural traits. They arise from at... more...

Aliases & Classifications for Hereditary Amyloidosis

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42NIH Rare Diseases, 22GTR, 44Novoseek, 60UMLS
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Classifications:

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Global: Genetic diseases


Aliases & Descriptions:

hereditary amyloidosis 42
amyloidosis hereditary 42 22 44
amyloidosis, hereditary 60
amyloidosis, familial 60
amyloidosis familial 44
familial amyloidosis 42


Related Diseases for Hereditary Amyloidosis

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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 75)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2TTR, APOA1, APOA2, GSN, LYZ
2familial visceral amyloidosis30.3APOA1, FGA, LYZ
3familial transthyretin amyloidosis30.3APOA1, TTR, GSN
4polyneuropathy30.2GSN, APOA2, TTR
5finnish type amyloidosis30.1TTR, GSN
6familial mediterranean fever30.1GSN
7hepatitis29.9TTR
8arthritis29.9LYZ
9transthyretin amyloidosis10.5
10primary cutaneous amyloidosis10.2
11restrictive cardiomyopathy10.2
12hereditary cerebral hemorrhage with amyloidosis10.1
13amyloidosis, hereditary renal10.1
14lattice corneal dystrophy10.1
15corneal dystrophy10.1
16galactosemia10.0TTR
17eye disease10.0LYZ
18hypothyroidism10.0TTR
19hyperthyroidism10.0APOA2
20crohn's disease10.0LYZ
21hypertension10.0APOA1
22cerebral amyloid angiopathy10.0TTR
23abetalipoproteinemia10.0APOA1
24alagille syndrome10.0APOA1
25protein s deficiency10.0FGA
26hemorrhage, intracerebral10.0TTR, GSN
27amyloidosis, secondary10.0TTR, APOA1
28fish-eye disease10.0APOA2, APOA1
29norum disease10.0APOA1, APOA2
30complete lcat deficiency10.0APOA1, APOA2
31familial hypertriglyceridemia10.0APOA2, APOA1
32hypoalphalipoproteinemia10.0APOA2, APOA1
33hyperalphalipoproteinemia10.0APOA2, APOA1
34familial combined hyperlipidemia10.0APOA2, APOA1
35tangier disease10.0APOA1, APOA2
36amyloid tumor10.0GSN, APOA2, TTR
37stroke, ischemic10.0FGA, APOA2
38nephrotic syndrome10.0FGA, APOA1
39acute myocardial infarction10.0FGA, APOA1
40amyloid neuropathy10.0TTR, APOA1, GSN
41obesity10.0APOA1, APOA2
42liver cirrhosis10.0TTR, FGA
43amyloidosis, renal10.0TTR, APOA2, APOA1
44coronary stenosis10.0APOA1, FGA
45familial hyperlipidemia10.0APOA2, APOA1
46sepsis10.0FGA, GSN, TTR
47essential hypertension10.0FGA, APOA1
48chronic kidney failure10.0TTR, FGA, APOA1
49myocardial infarction10.0FGA, APOA1, APOA2
50atherosclerosis10.0APOA2, FGA, APOA1

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



Diseases related to hereditary amyloidosis

Clinical Features for Hereditary Amyloidosis

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Drugs & Therapeutics for Hereditary Amyloidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Hereditary Amyloidosis:

32
Liver, Kidney, Eye

Animal Models for Hereditary Amyloidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6GSN, TTR, FGA, APOA2, APOA1

Publications for Hereditary Amyloidosis

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Genetic Variations for Hereditary Amyloidosis

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Expression for genes affiliated with Hereditary Amyloidosis

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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Hereditary Amyloidosis

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Hereditary Amyloidosis according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol44 1111.4TTR
2thioflavin t4410.0GSN, TTR
3retinyl palmitate44 2410.8TTR, APOA1
4tocopherol449.8APOA1, TTR
5guanidine44 11 2411.8APOA1, TTR
625-hydroxyvitamin d449.7TTR, APOA1
7p-opc449.7APOA1, APOA2
8dimyristoylphosphatidylcholine449.7APOA2, APOA1
9intralipid449.7APOA2, APOA1
10gemfibrozil44 28 1111.7APOA2, APOA1
11cholesterol ester449.7APOA2, APOA1
12bezafibrate44 28 1111.6APOA2, APOA1
13vitamin b12449.6TTR, APOA1
14cellulose acetate449.6TTR, FGA
15fenofibrate44 49 1111.6APOA1, APOA2
16cacl2449.6GSN, FGA
17serine449.5FGA, APOA2
18guanidine hydrochloride449.5TTR, APOA1
19methionine449.4APOA2, TTR, GSN
20uric acid44 2410.4TTR, APOA1
21iohexol449.4FGA, APOA1
22Alpha-D-Mannose119.4LYZ, FGA
23mspi449.3APOA1, APOA2, TTR
24leucine449.3APOA2, TTR, GSN
25triiodothyronine449.2TTR, APOA2
26triacylglycerol449.2APOA1, APOA2
27phospholipid449.2APOA1, APOA2, GSN
28aspartate449.2APOA1, TTR, GSN
29malondialdehyde449.1FGA, APOA2
30aspirin44 49 28 2412.0APOA1, FGA, TTR
31lactate448.9TTR, FGA, APOA1
32creatinine448.8APOA1, FGA, TTR
33retinoic acid44 249.8APOA1, APOA2, TTR, GSN
34glucose448.8APOA1, APOA2, TTR, GSN
35heparin44 28 11 2411.8APOA2, FGA, GSN
36cholesterol44 28 11 2411.5APOA1, APOA2, FGA, TTR
37lipid448.3APOA1, APOA2, FGA, GSN
38fibrinogen448.1GSN, TTR, FGA, APOA2, APOA1

GO Terms for genes affiliated with Hereditary Amyloidosis

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16Gene Ontology
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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 lipase activityGO:0601929.7APOA1, APOA2
2negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.7APOA1, APOA2
3regulation of intestinal cholesterol absorptionGO:0303009.7APOA2, APOA1
4high-density lipoprotein particle assemblyGO:0343809.7APOA1, APOA2
5protein oxidationGO:0181589.6APOA1, APOA2
6negative regulation of cytokine secretion involved in immune responseGO:0027409.6APOA1, APOA2
7peptidyl-methionine modificationGO:0182069.6APOA2, APOA1
8high-density lipoprotein particle clearanceGO:0343849.6APOA2, APOA1
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:0066569.5APOA2, APOA1
15lipoprotein metabolic processGO:0421579.4APOA1, APOA2
16organ regenerationGO:0311009.4APOA2, APOA1
17response to estrogen stimulusGO:0436279.3APOA2, APOA1
18retinoid metabolic processGO:0015239.3TTR, APOA2, APOA1
19cholesterol homeostasisGO:0426329.2APOA1, APOA2
20phototransduction, visible lightGO:0076039.2APOA1, APOA2, TTR
21platelet degranulationGO:0025769.0FGA, APOA1
22cholesterol metabolic processGO:0082039.0APOA2, APOA1

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

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

Products for genes affiliated with Hereditary Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet