MCID: HRD039
MIFTS: 47

Hereditary Amyloidosis

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

Aliases & Classifications for Hereditary Amyloidosis

MalaCards integrated aliases for Hereditary Amyloidosis:

Name: Hereditary Amyloidosis 49
Amyloidosis Hereditary 49 28 51
Familial Amyloidosis 49 36
Amyloidosis, Hereditary 69
Amyloidosis, Familial 69
Amyloidosis Familial 51

Classifications:



External Ids:

KEGG 36 H00845

Summaries for Hereditary Amyloidosis

NIH Rare Diseases : 49 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.  Last updated: 7/19/2016

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 : 72 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:

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 43)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 32.8 APOA1 GSN TTR
2 amyloidosis, finnish type 31.8 GSN TTR
3 polyneuropathy 29.8 APOA1 GSN TTR
4 amyloidosis, familial visceral 29.8 APOA1 APOA2 B2M FGA GSN LYZ
5 al amyloidosis 29.6 LYZ TTR
6 carpal tunnel syndrome 29.6 B2M TTR
7 amyloidosis 29.1 APOA1 B2M FGA GSN LYZ TTR
8 familial amyloidosis, finnish type 12.2
9 cerebral amyloid angiopathy, itm2b-related, 2 10.9
10 tibial neuropathy 10.3 B2M TTR
11 tarsal tunnel syndrome 10.3 B2M TTR
12 median rhomboid glossitis 10.3 B2M TTR
13 blepharochalasis 10.3 GSN TTR
14 nerve compression syndrome 10.3 B2M TTR
15 amyloid tumor 10.3 B2M TTR
16 pediatric multiple sclerosis 10.3 GSN TTR
17 oculogyric crisis 10.2 B2M FGA
18 testicular yolk sac tumor 10.1 APOA1 TTR
19 diffuse glomerulonephritis 10.1 B2M LYZ
20 pyelitis 10.0 B2M LYZ
21 renal tuberculosis 10.0 B2M LYZ
22 amyloidosis aa 10.0 APOA1 B2M TTR
23 amyloid neuropathy 10.0 APOA1 GSN TTR
24 familial lcat deficiency 9.9 APOA1 APOA2
25 fish-eye disease 9.9 APOA1 APOA2
26 leukodystrophy, hypomyelinating, 3 9.9 APOA1 APOA2
27 retinitis pigmentosa 7 9.9 B2M LYZ TTR
28 hyperlipoproteinemia, type iv 9.9 APOA1 APOA2
29 hypolipoproteinemia 9.8 APOA1 APOA2
30 hypoalphalipoproteinemia, primary 9.8 APOA1 APOA2
31 arcus corneae 9.8 APOA1 APOA2
32 hyperalphalipoproteinemia 1 9.7 APOA1 APOA2
33 lecithin:cholesterol acyltransferase deficiency 9.7 APOA1 APOA2
34 coronary heart disease 1 9.6 APOA1 APOA2
35 urinary system disease 9.6 B2M LYZ
36 body mass index quantitative trait locus 1 9.6
37 mononeuropathy of the median nerve, mild 9.6
38 arthritis 9.6
39 hepatitis 9.6
40 facial paralysis 9.6
41 retinitis 9.6
42 neuropathy 9.6
43 tangier disease 9.6 APOA1 APOA2

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 FURIN GSN LYZ APOA1 B2M FGA
2 homeostasis/metabolism MP:0005376 9.7 FGA GSN LYZ TTR APOA1 APOA2
3 integument MP:0010771 9.43 FURIN GSN LYZ APOA1 B2M FGA
4 liver/biliary system MP:0005370 9.02 FURIN LYZ APOA1 B2M FGA

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
Tauroursodeoxycholic acid Approved, Investigational Phase 1, Phase 2 14605-22-2 12443252
10
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
11 Cholagogues and Choleretics Phase 1, Phase 2
12 Taurochenodeoxycholic Acid Phase 1, Phase 2
13 Gastrointestinal Agents Phase 1, Phase 2
14 Anti-Bacterial Agents Phase 2,Phase 1
15 Anti-Infective Agents Phase 2,Phase 1
16 Antimalarials Phase 2,Phase 1
17 Antiprotozoal Agents Phase 2,Phase 1
18 Antiparasitic Agents 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 28

Anatomical Context for Hereditary Amyloidosis

MalaCards organs/tissues related to Hereditary Amyloidosis:

38
Liver, Kidney, Heart, Testes, Lung

Publications for Hereditary Amyloidosis

Articles related to Hereditary Amyloidosis:

(show top 50) (show all 70)
# Title Authors Year
1
Long-term effects of liver transplantation on small-fiber dysfunction in Japanese transthyretin (ATTR) V30M hereditary amyloidosis with polyneuropathy (FAP). ( 28434340 )
2017
2
Transthyretin amyloidosis: a little history of hereditary amyloidosis. ( 28434305 )
2017
3
Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients. ( 28904227 )
2017
4
Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation. ( 28434328 )
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
Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D. ( 27646980 )
2016
8
Hereditary Amyloidosis with Recurrent Lung Infiltrates. ( 27872470 )
2016
9
Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants. ( 26515634 )
2015
10
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. ( 25044787 )
2014
11
An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. ( 25003808 )
2014
12
Hereditary amyloidosis caused by R554L fibrinogen AI+-chain mutation in a Spanish family and review of the literature. ( 23551149 )
2013
13
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
14
Guideline of transthyretin-related hereditary amyloidosis for clinicians. ( 23425518 )
2013
15
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. ( 24455802 )
2013
16
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. ( 24138840 )
2013
17
Incidence and survival in non-hereditary amyloidosis in Sweden. ( 23148499 )
2012
18
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. ( 22540225 )
2012
19
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
20
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. ( 21135536 )
2011
21
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. ( 20229579 )
2010
22
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. ( 17600344 )
2007
23
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. ( 16468976 )
2006
24
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. ( 15995833 )
2005
25
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. ( 16221199 )
2005
26
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. ( 15185496 )
2004
27
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. ( 15131802 )
2004
28
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. ( 12050338 )
2002
29
Hereditary amyloidosis. ( 12374886 )
2002
30
Hereditary amyloidosis. ( 12375595 )
2002
31
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. ( 11401442 )
2001
32
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. ( 10845569 )
2000
33
Hereditary amyloidosis: some words on the history and present status of our eminent subject. ( 10842698 )
2000
34
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. ( 10571824 )
1999
35
Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. ( 9437328 )
1998
36
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. ( 9605286 )
1998
37
[Hereditary amyloidosis]. ( 9453203 )
1997
38
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. ( 8566845 )
1996
39
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. ( 7493166 )
1995
40
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. ( 7951260 )
1994
41
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France. ( 8110416 )
1993
42
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. ( 8345958 )
1993
43
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. ( 1301926 )
1992
44
Hereditary amyloidosis and cardiomyopathy. ( 1626556 )
1992
45
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. ( 1353040 )
1992
46
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
47
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. ( 1848334 )
1991
48
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. ( 1849145 )
1991
49
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. ( 1867256 )
1991
50
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. ( 2154345 )
1990

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:

36
# 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
12.24 APOA1 APOA2 TTR
4
Show member pathways
12.12 APOA1 APOA2 FURIN
5
Show member pathways
11.83 APOA1 APOA2 TTR
6 11.29 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 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 cholesterol homeostasis GO:0042632 9.64 APOA1 APOA2
6 response to estrogen GO:0043627 9.64 APOA1 APOA2
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 lipoprotein metabolic process GO:0042157 9.58 APOA1 APOA2
13 cholesterol efflux GO:0033344 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 retinoid metabolic process GO:0001523 9.5 APOA1 APOA2 TTR
20 positive regulation of cholesterol esterification GO:0010873 9.49 APOA1 APOA2
21 chylomicron remodeling GO:0034371 9.48 APOA1 APOA2
22 high-density lipoprotein particle clearance GO:0034384 9.46 APOA1 APOA2
23 negative regulation of cytokine secretion involved in immune response GO:0002740 9.43 APOA1 APOA2
24 peptidyl-methionine modification GO:0018206 9.4 APOA1 APOA2
25 regulation of intestinal cholesterol absorption GO:0030300 9.37 APOA1 APOA2
26 negative regulation of lipase activity GO:0060192 9.26 APOA1 APOA2
27 cellular protein metabolic process GO:0044267 9.23 APOA1 APOA2 B2M FGA FURIN GSN
28 protein oxidation GO:0018158 9.16 APOA1 APOA2
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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 APOA1 B2M LYZ TTR
2 heat shock protein binding GO:0031072 9.48 APOA1 APOA2
3 cholesterol binding GO:0015485 9.46 APOA1 APOA2
4 lipid transporter activity GO:0005319 9.43 APOA1 APOA2
5 phosphatidylcholine binding GO:0031210 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 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....