MCID: HRD039
MIFTS: 48

Hereditary Amyloidosis

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases, Nephrological diseases, Immune diseases, Blood 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 amyloidosis, finnish type. 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 homeostasis/metabolism

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 all 46)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 32.8 APOA1 GSN TTR
2 amyloidosis, finnish type 32.1 GSN TTR
3 polyneuropathy 29.8 APOA1 GSN TTR
4 al amyloidosis 29.8 LYZ TTR
5 carpal tunnel syndrome 29.7 B2M TTR
6 amyloidosis 28.1 APOA1 B2M FGA GSN LYZ TTR
7 amyloidosis, familial visceral 27.4 APOA1 APOA2 B2M FGA GSN LYZ
8 familial amyloidosis, finnish type 12.2
9 tibial neuropathy 10.5 B2M TTR
10 tarsal tunnel syndrome 10.5 B2M TTR
11 median rhomboid glossitis 10.5 B2M TTR
12 blepharochalasis 10.5 GSN TTR
13 nerve compression syndrome 10.5 B2M TTR
14 amyloid tumor 10.5 B2M TTR
15 pediatric multiple sclerosis 10.4 GSN TTR
16 oculogyric crisis 10.3 B2M FGA
17 testicular yolk sac tumor 10.2 APOA1 TTR
18 diffuse glomerulonephritis 10.2 B2M LYZ
19 renal tuberculosis 10.1 B2M LYZ
20 pyelitis 10.1 B2M LYZ
21 amyloidosis aa 10.0 APOA1 B2M TTR
22 amyloid neuropathy 10.0 APOA1 GSN TTR
23 familial lcat deficiency 9.9 APOA1 APOA2
24 fish-eye disease 9.9 APOA1 APOA2
25 leukodystrophy, hypomyelinating, 3 9.8 APOA1 APOA2
26 bardet-biedl syndrome 2 9.8 APOA1 LYZ
27 retinitis pigmentosa 7 9.8 B2M LYZ TTR
28 hyperlipidemia, familial combined 9.8 APOA1 APOA2
29 hyperlipoproteinemia, type iv 9.8 APOA1 APOA2
30 hypolipoproteinemia 9.7 APOA1 APOA2
31 hypoalphalipoproteinemia, primary 9.7 APOA1 APOA2
32 arcus corneae 9.7 APOA1 APOA2
33 hyperalphalipoproteinemia 1 9.6 APOA1 APOA2
34 body mass index quantitative trait locus 1 9.6
35 mononeuropathy of the median nerve, mild 9.6
36 arthritis 9.6
37 hepatitis 9.6
38 facial paralysis 9.6
39 retinitis 9.6
40 peripheral nervous system disease 9.6
41 neuropathy 9.6
42 lecithin:cholesterol acyltransferase deficiency 9.5 APOA1 APOA2
43 coronary heart disease 1 9.4 APOA1 APOA2
44 urinary system disease 9.4 B2M LYZ
45 tangier disease 9.3 APOA1 APOA2
46 coronary artery anomaly 9.1 APOA1 APOA2 FGA

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 9.8 APOA1 B2M FGA FURIN GSN LYZ
2 homeostasis/metabolism MP:0005376 9.7 APOA1 APOA2 B2M FGA GSN LYZ
3 endocrine/exocrine gland MP:0005379 9.65 APOA1 B2M FGA GSN LYZ
4 integument MP:0010771 9.43 B2M FGA FURIN GSN LYZ APOA1
5 liver/biliary system MP:0005370 9.02 B2M FGA FURIN LYZ APOA1

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 Cyclooxygenase Inhibitors Phase 2, Phase 3
4 Analgesics, Non-Narcotic Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6 Anti-Inflammatory Agents Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
10
Tauroursodeoxycholic acid Approved, Investigational Phase 1, Phase 2 14605-22-2 12443252
11 Cholagogues and Choleretics Phase 1, Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Taurochenodeoxycholic Acid Phase 1, Phase 2
14 Anti-Bacterial Agents Phase 2,Phase 1
15 Anti-Infective Agents Phase 2,Phase 1
16 Antiparasitic Agents Phase 2,Phase 1
17 Antiprotozoal Agents Phase 2,Phase 1
18 Antimalarials Phase 2,Phase 1
19 Antiviral 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, Testes, Lung

Publications for Hereditary Amyloidosis

Articles related to Hereditary Amyloidosis:

(show top 50) (show all 135)
# 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
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. ( 28295152 )
2017
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
The First Argentinian Family with Familial Amyloidosis of the Finnish Type. ( 28924445 )
2017
8
Transthyretin amyloidosis: a little history of hereditary amyloidosis. ( 28434305 )
2017
9
Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation. ( 28434328 )
2017
10
Long-term effects of liver transplantation on small-fiber dysfunction in Japanese transthyretin (ATTR) V30M hereditary amyloidosis with polyneuropathy (FAP). ( 28434340 )
2017
11
Neurotrophic keratopathy in a patient with familial amyloidosis. ( 28602432 )
2017
12
Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D. ( 27646980 )
2016
13
Hereditary Amyloidosis with Recurrent Lung Infiltrates. ( 27872470 )
2016
14
Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area. ( 27793437 )
2016
15
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. ( 25444639 )
2015
16
Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants. ( 26515634 )
2015
17
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. ( 25044787 )
2014
18
An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. ( 25003808 )
2014
19
Familial amyloidosis cutis dyschromica in three siblings: report from indonesia. ( 25386328 )
2014
20
Amyloidogenic mutations in human apolipoprotein A-I are not necessarily destabilizing - a common mechanism of apolipoprotein A-I misfolding in familial amyloidosis and atherosclerosis. ( 24702826 )
2014
21
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
22
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. ( 24053266 )
2013
23
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. ( 24138840 )
2013
24
Guideline of transthyretin-related hereditary amyloidosis for clinicians. ( 23425518 )
2013
25
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. ( 24455802 )
2013
26
Hereditary amyloidosis caused by R554L fibrinogen AI+-chain mutation in a Spanish family and review of the literature. ( 23551149 )
2013
27
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
28
Regional difference and similarity of familial amyloidosis with polyneuropathy in France. ( 22620968 )
2012
29
Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. ( 22928869 )
2012
30
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. ( 22622774 )
2012
31
Incidence and survival in non-hereditary amyloidosis in Sweden. ( 23148499 )
2012
32
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. ( 22540225 )
2012
33
Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M. ( 21358362 )
2011
34
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. ( 21135536 )
2011
35
Anticipation of presbyopia in Portuguese familial amyloidosis ATTR V30M. ( 21591979 )
2011
36
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. ( 20229579 )
2010
37
Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients. ( 19018796 )
2009
38
Low erythropoietin production in familial amyloidosis TTR V30M is not related with renal congophilic amyloid deposition. A clinicopathologic study of twelve cases. ( 18596378 )
2008
39
Low serum levels of prohepcidin, but not hepcidin-25, are related to anemia in familial amyloidosis TTR V30M. ( 18544472 )
2008
40
Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M. ( 18925459 )
2008
41
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. ( 17600344 )
2007
42
Liver transplantation and anemia in familial amyloidosis ATTR V30M. ( 17453623 )
2007
43
Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. ( 17635579 )
2007
44
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. ( 16468976 )
2006
45
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. ( 15995833 )
2005
46
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. ( 16221199 )
2005
47
Kidney and anemia in familial amyloidosis type I. ( 15496172 )
2004
48
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. ( 15185496 )
2004
49
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. ( 15131802 )
2004
50
Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. ( 12966927 )
2003

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 11.31 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 exosome GO:0070062 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 region GO:0005576 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 28)
# 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 animal organ regeneration GO:0031100 9.62 APOA1 APOA2
7 retina homeostasis GO:0001895 9.62 B2M LYZ
8 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.61 APOA1 FGA
9 phosphatidylcholine biosynthetic process GO:0006656 9.61 APOA1 APOA2
10 cholesterol transport GO:0030301 9.6 APOA1 APOA2
11 cholesterol efflux GO:0033344 9.58 APOA1 APOA2
12 lipoprotein metabolic process GO:0042157 9.58 APOA1 APOA2
13 reverse cholesterol transport GO:0043691 9.57 APOA1 APOA2
14 high-density lipoprotein particle remodeling GO:0034375 9.56 APOA1 APOA2
15 high-density lipoprotein particle assembly GO:0034380 9.54 APOA1 APOA2
16 phospholipid efflux GO:0033700 9.52 APOA1 APOA2
17 chylomicron assembly GO:0034378 9.51 APOA1 APOA2
18 retinoid metabolic process GO:0001523 9.5 APOA1 APOA2 TTR
19 positive regulation of cholesterol esterification GO:0010873 9.49 APOA1 APOA2
20 high-density lipoprotein particle clearance GO:0034384 9.48 APOA1 APOA2
21 chylomicron remodeling GO:0034371 9.46 APOA1 APOA2
22 peptidyl-methionine modification GO:0018206 9.43 APOA1 APOA2
23 negative regulation of cytokine secretion involved in immune response GO:0002740 9.4 APOA1 APOA2
24 regulation of intestinal cholesterol absorption GO:0030300 9.37 APOA1 APOA2
25 negative regulation of lipase activity GO:0060192 9.26 APOA1 APOA2
26 cellular protein metabolic process GO:0044267 9.23 APOA1 APOA2 B2M FGA FURIN GSN
27 protein oxidation GO:0018158 9.16 APOA1 APOA2
28 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:

(show all 11)
# 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 9.49 APOA1 APOA2
3 cholesterol binding GO:0015485 9.46 APOA1 APOA2
4 phosphatidylcholine binding GO:0031210 9.43 APOA1 APOA2
5 lipid transporter activity GO:0005319 9.4 APOA1 APOA2
6 cholesterol transporter activity GO:0017127 9.37 APOA1 APOA2
7 high-density lipoprotein particle binding GO:0008035 9.32 APOA1 APOA2
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2
9 lipase inhibitor activity GO:0055102 9.16 APOA1 APOA2
10 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA1 APOA2
11 apolipoprotein receptor binding GO:0034190 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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