MCID: HRD039
MIFTS: 49

Hereditary Amyloidosis

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Amyloidosis

MalaCards integrated aliases for Hereditary Amyloidosis:

Name: Hereditary Amyloidosis 53
Amyloidosis Hereditary 53 29 55
Familial Amyloidosis 53 37
Amyloidosis, Hereditary 73
Amyloidosis, Familial 73
Amyloidosis Familial 55

Classifications:



External Ids:

KEGG 37 H00845

Summaries for Hereditary Amyloidosis

NIH Rare Diseases : 53 Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosis is 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 genemutations 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 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). 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. 

MalaCards based summary : Hereditary Amyloidosis, also known as amyloidosis hereditary, is related to amyloidosis, hereditary, transthyretin-related and cerebral amyloid angiopathy, cst3-related. An important gene associated with Hereditary Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Fat digestion and absorption and Vitamin digestion and absorption. The drugs Diflunisal and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart, and related phenotypes are cardiovascular system and digestive/alimentary

Wikipedia : 76 Amyloids are aggregates of proteins that become folded into a shape that allows many copies of that... more...

Related Diseases for Hereditary Amyloidosis

Diseases in the Amyloidosis family:

Amyloidosis, Hereditary, Transthyretin-Related Al Amyloidosis
Amyloidosis Aa Hereditary Amyloidosis
Primary Localized Amyloidosis Ah Amyloidosis

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 33.1 APOA1 GSN TTR
2 cerebral amyloid angiopathy, cst3-related 32.7 GSN TTR
3 amyloidosis, finnish type 31.8 GSN TTR
4 amyloidosis, familial visceral 30.5 APOA1 APOA2 B2M FGA GSN LYZ
5 polyneuropathy 30.0 APOA1 GSN TTR
6 amyloidosis 30.0 APOA1 B2M FGA GSN LYZ TTR
7 carpal tunnel syndrome 29.7 B2M TTR
8 al amyloidosis 29.4 B2M LYZ TTR
9 familial amyloidosis, finnish type 12.4
10 primary cutaneous amyloidosis 11.6
11 cerebral amyloid angiopathy, app-related 11.4
12 familial mediterranean fever 11.3
13 cerebral amyloid angiopathy, itm2b-related, 2 11.2
14 corneal dystrophy, gelatinous drop-like 11.2
15 afib amyloidosis 11.1
16 amyloidosis, primary localized cutaneous, 1 11.0
17 cerebral amyloid angiopathy, itm2b-related, 1 11.0
18 muckle-wells syndrome 11.0
19 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.0
20 hereditary cerebral amyloid angiopathy 11.0
21 lattice corneal dystrophy type ii 11.0
22 aapoaii amyloidosis 11.0
23 aapoai amyloidosis 11.0
24 tibial neuropathy 10.2 B2M TTR
25 tarsal tunnel syndrome 10.2 B2M TTR
26 median rhomboid glossitis 10.2 B2M TTR
27 blepharochalasis 10.2 GSN TTR
28 amyloid tumor 10.1 B2M TTR
29 nerve compression syndrome 10.1 B2M TTR
30 pediatric multiple sclerosis 10.1 GSN TTR
31 oculogyric crisis 10.1 B2M FGA
32 testicular yolk sac tumor 10.1 APOA1 TTR
33 familial lcat deficiency 10.0 APOA1 APOA2
34 fish-eye disease 10.0 APOA1 APOA2
35 leukodystrophy, hypomyelinating, 3 10.0 APOA1 APOA2
36 hypobetalipoproteinemia, familial, 2 10.0 APOA1 FURIN
37 hyperlipidemia, familial combined 10.0 APOA1 APOA2
38 amyloidosis aa 10.0 APOA1 B2M TTR
39 hypolipoproteinemia 10.0 APOA1 APOA2
40 hypoalphalipoproteinemia, primary 10.0 APOA1 APOA2
41 diffuse glomerulonephritis 10.0 B2M LYZ
42 amyloidosis, primary localized cutaneous, 3 10.0
43 arcus corneae 10.0 APOA1 APOA2
44 pyelitis 10.0 B2M LYZ
45 renal tuberculosis 10.0 B2M LYZ
46 angina pectoris 9.9 APOA2 FGA
47 hyperalphalipoproteinemia 1 9.9 APOA1 APOA2
48 lecithin:cholesterol acyltransferase deficiency 9.9 APOA1 APOA2
49 retinitis pigmentosa 7 9.9 B2M LYZ TTR
50 bardet-biedl syndrome 2 9.9 APOA1 LYZ

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



Diseases related to Hereditary Amyloidosis

Symptoms & Phenotypes for Hereditary Amyloidosis

MGI Mouse Phenotypes related to Hereditary Amyloidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 APOA1 B2M FGA FURIN GSN LYZ
2 digestive/alimentary MP:0005381 9.72 B2M FGA FURIN LYZ TTR
3 homeostasis/metabolism MP:0005376 9.7 APOA1 APOA2 B2M FGA GSN LYZ
4 endocrine/exocrine gland MP:0005379 9.65 APOA1 B2M FGA GSN LYZ
5 integument MP:0010771 9.43 APOA1 B2M FGA FURIN GSN LYZ
6 liver/biliary system MP:0005370 9.02 APOA1 B2M FGA FURIN LYZ

Drugs & Therapeutics for Hereditary Amyloidosis

Drugs for Hereditary Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Analgesics Phase 2, Phase 3
3 Antirheumatic Agents Phase 2, Phase 3
4 Peripheral Nervous System Agents Phase 2, Phase 3
5 Analgesics, Non-Narcotic Phase 2, Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
7 Cyclooxygenase Inhibitors Phase 2, Phase 3
8 Anti-Inflammatory Agents Phase 2, Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
10
Tauroursodeoxycholic acid Experimental, Investigational Phase 1, Phase 2 14605-22-2 12443252
11 Antiparasitic Agents Phase 2,Phase 1
12 Antiprotozoal Agents Phase 2,Phase 1
13 Anti-Bacterial Agents Phase 2,Phase 1
14 Antimalarials Phase 2,Phase 1
15 Anti-Infective Agents Phase 2,Phase 1
16 Antiviral Agents Phase 1, Phase 2
17 Taurochenodeoxycholic Acid Phase 1, Phase 2
18 Cholagogues and Choleretics Phase 1, Phase 2
19 Gastrointestinal Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
2 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
3 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
4 Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy Completed NCT01855360 Phase 1, Phase 2 Tauroursodeoxycholic Acid and Doxycycline
5 A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects Completed NCT02797847 Phase 1 ALN-TTRSC02;Sterile Normal Saline (0.9% NaCl)
6 Study of Systemic Amyloidosis Presentation and Prognosis Unknown status NCT00004374
7 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
8 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245

Search NIH Clinical Center for Hereditary Amyloidosis

Genetic Tests for Hereditary Amyloidosis

Genetic tests related to Hereditary Amyloidosis:

# Genetic test Affiliating Genes
1 Amyloidosis Hereditary 29

Anatomical Context for Hereditary Amyloidosis

MalaCards organs/tissues related to Hereditary Amyloidosis:

41
Liver, Kidney, Heart, Bone, Lung, Eye, Thyroid

Publications for Hereditary Amyloidosis

Articles related to Hereditary Amyloidosis:

(show top 50) (show all 74)
# Title Authors Year
1
Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients. ( 29924456 )
2018
2
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing. ( 29455155 )
2018
3
Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis. ( 30252892 )
2018
4
Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients. ( 28904227 )
2017
5
Familial progressive bilateral facial paralysis in Finnish type hereditary amyloidosis. ( 28578319 )
2017
6
Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report. ( 28272196 )
2017
7
Transthyretin amyloidosis: a little history of hereditary amyloidosis. ( 28434305 )
2017
8
Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation. ( 28434328 )
2017
9
Long-term effects of liver transplantation on small-fiber dysfunction in Japanese transthyretin (ATTR) V30M hereditary amyloidosis with polyneuropathy (FAP). ( 28434340 )
2017
10
Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D. ( 27646980 )
2016
11
Hereditary Amyloidosis with Recurrent Lung Infiltrates. ( 27872470 )
2016
12
Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants. ( 26515634 )
2016
13
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. ( 25044787 )
2014
14
An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. ( 25003808 )
2014
15
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
16
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. ( 24138840 )
2013
17
Guideline of transthyretin-related hereditary amyloidosis for clinicians. ( 23425518 )
2013
18
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. ( 24455802 )
2013
19
Hereditary amyloidosis caused by R554L fibrinogen AI+-chain mutation in a Spanish family and review of the literature. ( 23551149 )
2013
20
Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. ( 22620967 )
2012
21
Incidence and survival in non-hereditary amyloidosis in Sweden. ( 23148499 )
2012
22
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. ( 22540225 )
2012
23
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. ( 21135536 )
2011
24
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. ( 20229579 )
2010
25
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. ( 17600344 )
2007
26
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. ( 16468976 )
2006
27
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. ( 15995833 )
2005
28
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. ( 16221199 )
2005
29
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. ( 15185496 )
2004
30
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. ( 15131802 )
2004
31
Hereditary amyloidosis. ( 12374886 )
2002
32
Hereditary amyloidosis. ( 12375595 )
2002
33
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. ( 12050338 )
2002
34
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. ( 11401442 )
2001
35
Hereditary amyloidosis: some words on the history and present status of our eminent subject. ( 10842698 )
2000
36
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. ( 10845569 )
2000
37
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. ( 10571824 )
1999
38
Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. ( 9437328 )
1998
39
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. ( 9605286 )
1998
40
[Hereditary amyloidosis]. ( 9453203 )
1997
41
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. ( 8566845 )
1996
42
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. ( 7493166 )
1995
43
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. ( 7951260 )
1994
44
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. ( 8345958 )
1993
45
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France. ( 8110416 )
1993
46
Familial amyloidosis--hereditary systemic disease of the connective tissue and other organs. ( 8441163 )
1993
47
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
48
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. ( 1353040 )
1992
49
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. ( 1301926 )
1992
50
Hereditary amyloidosis and cardiomyopathy. ( 1626556 )
1992

Variations for Hereditary Amyloidosis

Expression for Hereditary Amyloidosis

Search GEO for disease gene expression data for Hereditary Amyloidosis.

Pathways for Hereditary Amyloidosis

Pathways related to Hereditary Amyloidosis according to KEGG:

37
# Name Kegg Source Accession
1 Fat digestion and absorption hsa04975
2 Vitamin digestion and absorption hsa04977
3 Complement and coagulation cascades hsa04610
4 Salivary secretion hsa04970
5 Regulation of actin cytoskeleton hsa04810

Pathways related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 APOA1 B2M FGA FURIN GSN LYZ
2
Show member pathways
12.58 APOA1 B2M FGA FURIN GSN LYZ
3
Show member pathways
12.22 APOA1 APOA2 TTR
4
Show member pathways
12.12 APOA1 APOA2 FURIN
5
Show member pathways
11.83 APOA1 APOA2 TTR
6 11.33 APOA1 APOA2
7 11.01 APOA1 TTR
8 10.67 APOA1 APOA2
9 10.43 APOA1 APOA2

GO Terms for Hereditary Amyloidosis

Cellular components related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.76 APOA1 B2M FGA FURIN
2 extracellular region GO:0005576 9.76 APOA1 APOA2 B2M FGA FURIN GSN
3 endoplasmic reticulum lumen GO:0005788 9.62 APOA1 APOA2 B2M FGA
4 blood microparticle GO:0072562 9.56 APOA1 APOA2 FGA GSN
5 extracellular exosome GO:0070062 9.56 APOA1 APOA2 B2M FGA FURIN GSN
6 specific granule lumen GO:0035580 9.52 B2M LYZ
7 tertiary granule lumen GO:1904724 9.51 B2M LYZ
8 extracellular vesicle GO:1903561 9.49 APOA1 FGA
9 high-density lipoprotein particle GO:0034364 9.48 APOA1 APOA2
10 very-low-density lipoprotein particle GO:0034361 9.43 APOA1 APOA2
11 chylomicron GO:0042627 9.4 APOA1 APOA2
12 spherical high-density lipoprotein particle GO:0034366 9.37 APOA1 APOA2
13 extracellular space GO:0005615 9.23 APOA1 APOA2 B2M FGA FURIN GSN

Biological processes related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 B2M GSN LYZ TTR
2 post-translational protein modification GO:0043687 9.81 APOA1 APOA2 FGA
3 response to drug GO:0042493 9.8 APOA1 APOA2 B2M
4 extracellular matrix organization GO:0030198 9.77 FGA FURIN TTR
5 response to estrogen GO:0043627 9.64 APOA1 APOA2
6 extracellular matrix disassembly GO:0022617 9.64 FURIN GSN
7 animal organ regeneration GO:0031100 9.62 APOA1 APOA2
8 retina homeostasis GO:0001895 9.62 B2M LYZ
9 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.61 APOA1 FGA
10 phosphatidylcholine biosynthetic process GO:0006656 9.61 APOA1 APOA2
11 cholesterol transport GO:0030301 9.59 APOA1 APOA2
12 cholesterol efflux GO:0033344 9.58 APOA1 APOA2
13 lipoprotein metabolic process GO:0042157 9.58 APOA1 APOA2
14 reverse cholesterol transport GO:0043691 9.57 APOA1 APOA2
15 high-density lipoprotein particle remodeling GO:0034375 9.56 APOA1 APOA2
16 high-density lipoprotein particle assembly GO:0034380 9.54 APOA1 APOA2
17 phospholipid efflux GO:0033700 9.52 APOA1 APOA2
18 chylomicron assembly GO:0034378 9.51 APOA1 APOA2
19 high-density lipoprotein particle clearance GO:0034384 9.49 APOA1 APOA2
20 positive regulation of cholesterol esterification GO:0010873 9.48 APOA1 APOA2
21 chylomicron remodeling GO:0034371 9.46 APOA1 APOA2
22 negative regulation of cytokine secretion involved in immune response GO:0002740 9.43 APOA1 APOA2
23 peptidyl-methionine modification GO:0018206 9.4 APOA1 APOA2
24 regulation of intestinal cholesterol absorption GO:0030300 9.37 APOA1 APOA2
25 retinoid metabolic process GO:0001523 9.33 APOA1 APOA2 TTR
26 negative regulation of lipase activity GO:0060192 9.32 APOA1 APOA2
27 protein oxidation GO:0018158 9.26 APOA1 APOA2
28 cellular protein metabolic process GO:0044267 9.23 APOA1 APOA2 B2M FGA FURIN GSN
29 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 8.96 APOA1 APOA2

Molecular functions related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.78 APOA1 B2M LYZ TTR
2 heat shock protein binding GO:0031072 9.46 APOA1 APOA2
3 cholesterol binding GO:0015485 9.43 APOA1 APOA2
4 lipid transporter activity GO:0005319 9.4 APOA1 APOA2
5 cholesterol transporter activity GO:0017127 9.37 APOA1 APOA2
6 high-density lipoprotein particle binding GO:0008035 9.32 APOA1 APOA2
7 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA1 APOA2
9 apolipoprotein receptor binding GO:0034190 8.96 APOA1 APOA2
10 high-density lipoprotein particle receptor binding GO:0070653 8.62 APOA1 APOA2

Sources for Hereditary Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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