MCID: HRD207
MIFTS: 26

Hereditary Transthyretin Amyloidosis

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Transthyretin Amyloidosis

MalaCards integrated aliases for Hereditary Transthyretin Amyloidosis:

Name: Hereditary Transthyretin Amyloidosis 25
Hereditary Attr Amyloidosis 25 58
Familial Transthyretin-Related Amyloidosis 58
Familial Transthyretin Amyloidosis 25
Familial Ttr-Related Amyloidosis 58
Familial Amyloid Polyneuropathy 25

Characteristics:

GeneReviews:

25
Penetrance Because the penetrance for hereditary attr amyloidosis is not 100%, an individual with a ttr pathogenic variant may be symptom free until late adulthood. the penetrance may vary by variant, geographic region, or ethnic group....

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Orphanet 58 ORPHA271861

Summaries for Hereditary Transthyretin Amyloidosis

MalaCards based summary : Hereditary Transthyretin Amyloidosis, also known as hereditary attr amyloidosis, is related to amyloidosis, finnish type and familial amyloidosis, finnish type. An important gene associated with Hereditary Transthyretin Amyloidosis is TTR (Transthyretin). The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and kidney.

GeneReviews: NBK1194

Related Diseases for Hereditary Transthyretin Amyloidosis

Diseases in the Hereditary Transthyretin Amyloidosis family:

Amyloidosis, Hereditary, Transthyretin-Related

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 11.5
2 familial amyloidosis, finnish type 11.5
3 lattice corneal dystrophy 11.3
4 lattice corneal dystrophy type ii 11.3
5 amyloidosis, hereditary, transthyretin-related 11.1
6 amyloidosis 11.1
7 polyneuropathy 10.9
8 neuropathy 10.6
9 autonomic dysfunction 10.5
10 peripheral nervous system disease 10.5
11 autonomic neuropathy 10.4
12 restrictive cardiomyopathy 10.4
13 diabetic neuropathy 10.4
14 carpal tunnel syndrome 10.4
15 hereditary amyloidosis 10.3
16 pure autonomic failure 10.3
17 dysautonomia 10.3
18 erythermalgia, primary 10.2
19 corneal dystrophy 10.2
20 al amyloidosis 10.2
21 hypertrophic cardiomyopathy 10.2
22 thrombocytopenia 10.2
23 constipation 10.2
24 congestive heart failure 10.2
25 paresthesia 10.2
26 cerebral amyloid angiopathy, cst3-related 10.2
27 open-angle glaucoma 10.2
28 keratoconjunctivitis sicca 10.2
29 autosomal dominant cerebellar ataxia 10.2
30 axonal neuropathy 10.2
31 cardiogenic shock 10.2
32 atrial standstill 1 10.2
33 body mass index quantitative trait locus 1 10.2
34 intraocular pressure quantitative trait locus 10.2
35 heart disease 10.2
36 impotence 10.2
37 chronic inflammatory demyelinating polyradiculoneuropathy 10.2
38 demyelinating polyneuropathy 10.2
39 amyloid neuropathy 10.2
40 lymphangiectasis 10.2
41 primary orthostatic hypotension 10.2
42 wild type attr amyloidosis 10.2
43 machado-joseph disease 10.1
44 progressive familial heart block, type ia 10.1
45 spinocerebellar ataxia 1 10.1
46 yemenite deaf-blind hypopigmentation syndrome 10.1
47 orthostatic intolerance 10.1
48 restless legs syndrome 10.1
49 left bundle branch hemiblock 10.1
50 recurrent corneal erosion 10.1

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



Diseases related to Hereditary Transthyretin Amyloidosis

Symptoms & Phenotypes for Hereditary Transthyretin Amyloidosis

Drugs & Therapeutics for Hereditary Transthyretin Amyloidosis

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Immunoglobulins Phase 4
3 Immunoglobulins, Intravenous Phase 4
4 Antibodies Phase 4
5 Antirheumatic Agents Phase 2, Phase 3
6 Cyclooxygenase Inhibitors Phase 2, Phase 3
7 Anti-Inflammatory Agents Phase 2, Phase 3
8 Analgesics, Non-Narcotic Phase 2, Phase 3
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
10 Analgesics Phase 2, Phase 3
11
Tolcapone Approved, Withdrawn Phase 1, Phase 2 134308-13-7 4659569
12 Catechol Phase 1, Phase 2
13 Antiparkinson Agents Phase 1, Phase 2
14
Diflunisal Approved, Investigational 22494-42-4 3059
15
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
16
Curcumin Approved, Experimental, Investigational 458-37-7 969516
17
Doxycycline Approved, Investigational, Vet_approved 564-25-0 54671203
18
Tauroursodeoxycholic acid Experimental, Investigational 14605-22-2 12443252
19 Tea

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Phase 4 Safety Study Assessing the Adverse Events Occurring Within One Day of TEGSEDI Administration in Patients With Polyneuropathy of Hereditary Transthyretin-mediated Amyloidosis (hATTR-PN) Recruiting NCT04306510 Phase 4
2 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
3 An Open-Label Extension Of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3 Fx-1006A
4 The Effect On Transthyretin Stabilization, Safety, Tolerablity, Efficacy And Pharmacokinetics Of Orally Administered Tafamidis In Transthyretin Amyloid Polyneuropathy Patients With V30m Or Non-v30m Transthyretin: A Phase Iii, Open-label Study Completed NCT01435655 Phase 3 tafamidis
5 Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-blind, Placebo-controlled Study Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
6 A Phase 2/3 Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (NEURO-TTR Study) Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
7 An Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (FAP) Completed NCT02175004 Phase 3 IONIS-TTR Rx
8 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of AG10 in Subjects With Symptomatic Transthyretin Amyloid Polyneuropathy (ATTRibute-PN Trial) Recruiting NCT04418024 Phase 3 AG10;Placebo
9 HELIOS-A: A Phase 3 Global, Randomized, Open-label Study to Evaluate the Efficacy and Safety of ALN-TTRSC02 in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Active, not recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
10 Study of SOM0226 in Familial Amyloid Polyneuropathy (FAP) Patients and Asymptomatic Carriers to Evaluate Protein Stabilization Activity Completed NCT02191826 Phase 1, Phase 2 SOM0226
11 Phase 1 Two-Part (Open-label, Single Ascending Dose (Part 1) and Open-label, Single Dose Expansion (Part 2)) Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-2001 in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN) Recruiting NCT04601051 Phase 1
12 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Unknown status NCT03347669
13 Expanded Access Program for Inotersen (ISIS 420915) in Patients With Hereditary Transthyretin Amyloidosis (hATTR) Approved for marketing NCT03400098 Inotersen
14 Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers Completed NCT01604122
15 The Effect of Diflunisal on Familial Transthyretin Amyloidosis: An Open Label Extension Study of "the Diflunisal Trial" (IND 68092), and an Open Label Observational Study on Previously Untreated Patients With Familial Transthyretin Amyloidosis. Completed NCT01432587 Diflunisal
16 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896

Search NIH Clinical Center for Hereditary Transthyretin Amyloidosis

Genetic Tests for Hereditary Transthyretin Amyloidosis

Anatomical Context for Hereditary Transthyretin Amyloidosis

MalaCards organs/tissues related to Hereditary Transthyretin Amyloidosis:

40
Heart, Liver, Kidney

Publications for Hereditary Transthyretin Amyloidosis

Articles related to Hereditary Transthyretin Amyloidosis:

(show top 50) (show all 336)
# Title Authors PMID Year
1
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. 25 61
29972757 2018
2
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. 61 25
29972753 2018
3
Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. 25 61
27466465 2016
4
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. 61 25
25604431 2015
5
Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative? 25 61
26308415 2015
6
Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. 25 61
14987380 2002
7
Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy. 25
30333157 2018
8
Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. 25
30145929 2018
9
First nationwide survey on systemic wild-type ATTR amyloidosis in Japan. 25
29182024 2018
10
Hereditary neuropathies: An update. 25
27866730 2016
11
Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. 25
27884064 2016
12
Timing, rates and spectra of human germline mutation. 25
26656846 2016
13
Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. 25
26852880 2016
14
Prediction of long-term survival after liver transplantation for familial transthyretin amyloidosis. 25
26541929 2015
15
CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. 25
25091367 2015
16
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 25
24368466 2013
17
Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. 25
22843282 2012
18
Clinicopathological features of senile systemic amyloidosis: an ante- and post-mortem study. 25
21822203 2011
19
Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany? 25
21540676 2011
20
Symptomatic and proven de novo amyloid polyneuropathy in familial amyloid polyneuropathy domino liver recipients. 25
21838477 2011
21
Amyloid neuropathy in a younger domino liver transplanted recipient. 25
21319169 2011
22
Risk of transmission of systemic transthyretin amyloidosis after domino liver transplantation. 25
21117248 2010
23
Clinical symptomatic de novo systemic transthyretin amyloidosis 9 years after domino liver transplantation. 25
20035516 2010
24
Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. 25
18925456 2008
25
Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy. 25
18506713 2008
26
Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. 25
17868062 2007
27
The molecular biology and clinical features of amyloid neuropathy. 25
17554795 2007
28
Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). 25
17698792 2007
29
Homozygous transthyretin mutation in an African American Male. 25
17251346 2007
30
Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. 25
16889603 2006
31
Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis. 25
16399646 2005
32
Transthyretin-related familial amyloidotic polyneuropathy. 25
16009758 2005
33
Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. 25
15983293 2005
34
Ostertag revisited: the inherited systemic amyloidoses without neuropathy. 25
16011983 2005
35
Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. 25
15930432 2005
36
A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. 25
16011990 2005
37
The biological and chemical basis for tissue-selective amyloid disease. 25
15820680 2005
38
Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy. 25
15725588 2005
39
Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies. 25
15574136 2004
40
A case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy. 25
15678760 2004
41
MRI analysis on a patient with the V30M mutation is characteristic of leptomeningeal amyloid. 25
15678762 2004
42
Kidney and anemia in familial amyloidosis type I. 25
15496172 2004
43
Liver transplantation in transthyretin-related familial amyloid polyneuropathy. 25
15367866 2004
44
Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis. 25
15377697 2004
45
Outcome of exercise electrocardiography in familial amyloidotic polyneuropathy patients, Portuguese type, under evaluation for liver transplantation. 25
15523924 2004
46
Liver transplantation does not prevent the development of life-threatening arrhythmia in familial amyloidotic polyneuropathy, Portuguese-type (ATTR Val30Met) patients. 25
15257048 2004
47
Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. 25
15249622 2004
48
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. 25
15185496 2004
49
Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene. 25
15185500 2004
50
Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British and American-Finnish families. 25
15185498 2004

Variations for Hereditary Transthyretin Amyloidosis

Expression for Hereditary Transthyretin Amyloidosis

Search GEO for disease gene expression data for Hereditary Transthyretin Amyloidosis.

Pathways for Hereditary Transthyretin Amyloidosis

GO Terms for Hereditary Transthyretin Amyloidosis

Sources for Hereditary Transthyretin Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....