MCID: HRD207
MIFTS: 25

Hereditary Transthyretin Amyloidosis

Categories: Genetic diseases

Aliases & Classifications for Hereditary Transthyretin Amyloidosis

MalaCards integrated aliases for Hereditary Transthyretin Amyloidosis:

Name: Hereditary Transthyretin Amyloidosis 25
Familial Transthyretin Amyloidosis 25
Familial Amyloid Polyneuropathy 25
Hereditary Attr Amyloidosis 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:



Summaries for Hereditary Transthyretin Amyloidosis

MalaCards based summary : Hereditary Transthyretin Amyloidosis, also known as familial transthyretin amyloidosis, is related to familial amyloidosis, finnish type and amyloidosis, finnish type. An important gene associated with Hereditary Transthyretin Amyloidosis is TTR (Transthyretin). The drugs Diflunisal and Anti-Inflammatory Agents, Non-Steroidal have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes.

GeneReviews: NBK1194

Related Diseases for Hereditary Transthyretin Amyloidosis

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 familial amyloidosis, finnish type 11.9
2 amyloidosis, finnish type 11.9
3 lattice corneal dystrophy 11.6
4 lattice corneal dystrophy type ii 11.6
5 amyloidosis, hereditary, transthyretin-related 10.9
6 amyloidosis 10.9
7 neuropathy 10.3
8 carpal tunnel syndrome 10.3
9 mononeuropathy of the median nerve, mild 10.3
10 polyneuropathy 10.3
11 dysautonomia 10.2
12 cerebral amyloid angiopathy, cst3-related 10.1
13 corneal dystrophy 10.1
14 pure autonomic failure 10.1
15 fabry disease 10.1
16 machado-joseph disease 10.0
17 anxiety 10.0
18 restless legs syndrome 10.0
19 constipation 10.0
20 atrial fibrillation 10.0
21 autonomic neuropathy 10.0
22 peripheral nervous system disease 10.0
23 lymphangiectasis 10.0
24 spinal stenosis 10.0
25 huntington disease 9.9
26 spinocerebellar ataxia 1 9.9
27 ascites, chylous 9.9
28 lymphoma, hodgkin, classic 9.9
29 lymphoma, non-hodgkin, familial 9.9
30 ichthyosis prematurity syndrome 9.9
31 chronic inflammatory demyelinating polyneuropathy 9.9
32 crohn's disease 9.9
33 diabetes mellitus 9.9
34 hepatitis 9.9
35 liver disease 9.9
36 lymphoma 9.9
37 siderosis 9.9
38 open-angle glaucoma 9.9
39 heart disease 9.9
40 diarrhea 9.9
41 autosomal dominant cerebellar ataxia 9.9
42 hepatitis c 9.9
43 retinal vascular disease 9.9
44 intracranial embolism 9.9
45 demyelinating polyneuropathy 9.9
46 rere-related disorders 9.9
47 al amyloidosis 9.9
48 myoclonus 9.9
49 dysphagia 9.9
50 superficial siderosis 9.9

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 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
3 Analgesics Phase 2, Phase 3
4 Cyclooxygenase Inhibitors Phase 2, Phase 3
5 Antirheumatic Agents Phase 2, Phase 3
6 Analgesics, Non-Narcotic Phase 2, Phase 3
7 Anti-Inflammatory Agents Phase 2, Phase 3
8 Peripheral Nervous System Agents Phase 2, Phase 3
9 Liver Extracts Phase 3
10 Pharmaceutical Solutions Phase 2, Phase 3
11
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
12
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
13
Taurochenodeoxycholic acid Experimental Phase 2,Phase 1 516-35-8 387316
14
Tauroursodeoxycholic acid Experimental, Investigational Phase 2,Phase 1 14605-22-2 12443252
15 Antiprotozoal Agents Phase 2,Phase 1
16 Antimalarials Phase 2,Phase 1
17 Gastrointestinal Agents Phase 2,Phase 1
18 Antiparasitic Agents Phase 2,Phase 1
19 Antiviral Agents Phase 2,Phase 1
20 Anti-Bacterial Agents Phase 2,Phase 1
21 Cholagogues and Choleretics Phase 2,Phase 1
22 Anti-Infective Agents Phase 2,Phase 1
23 Catechol Phase 1, Phase 2,Early Phase 1
24 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2,Early Phase 1
25 Antiparkinson Agents Phase 1, Phase 2,Early Phase 1
26
Curcumin Approved, Experimental, Investigational 458-37-7 969516
27
Ethanol Approved 64-17-5 702
28
Methylcobalamin Approved, Experimental, Investigational 13422-55-4
29
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
30
carbamide peroxide Approved 124-43-6
31
Carbidopa Approved Early Phase 1 28860-95-9 34359
32
Levodopa Approved Early Phase 1 59-92-7 6047
33
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
34
Cobalamin Experimental 13408-78-1 6857388
35 Tea
36 Vitamin B12
37 Vitamin B Complex
38 Immunoglobulins
39 Vitamins
40 Antibodies
41 Vitamin B 12

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
2 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3 tafamidis
3 An 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 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
5 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
6 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Completed NCT01960348 Phase 3 patisiran (ALN-TTR02);Sterile Normal Saline (0.9% NaCl)
7 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3 Revusiran (ALN-TTRSC);Sterile Normal Saline (0.9% NaCl)
8 HELIOS-A: A Study of Vutrisiran (ALN-TTRSC02) in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
9 Patisiran in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Disease Progression Post-Liver Transplant Recruiting NCT03862807 Phase 3 Patisiran
10 Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy Recruiting NCT03860935 Phase 3 AG10;Placebo Oral Tablet
11 Open-Label Extension Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP) Active, not recruiting NCT02175004 Phase 3 IONIS-TTR Rx
12 Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin Amyloidosis Active, not recruiting NCT00925002 Phase 3 Tafamidis
13 The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Who Have Already Been Treated With ALN-TTR02 (Patisiran) Enrolling by invitation NCT02510261 Phase 3 Patisiran (ALN-TTR02)
14 Assessment of 18F-Florbetaben Whole-body PET for the Detection of Cardiac and Extracardiac Sites of Amyloid Deposits Not yet recruiting NCT03616496 Phase 2, Phase 3 Neuraceq 300MBq/mL Solution for Injection for PET imaging
15 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
16 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
17 The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin Amyloidosis Completed NCT00630864 Phase 2 Fx-1006A
18 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
19 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
20 24 Month Open Label Study of the Tolerability and Efficacy of Inotersen in TTR Amyloid Cardiomyopathy Patients Not yet recruiting NCT03702829 Phase 2 Inotersen
21 The Effect of an Antisense Oligonucleotide to Lower Transthyretin (TTR) Levels on the Progression of -Wild-type TTR Involving the Heart Withdrawn NCT02627820 Phase 2 Isis 420915/GSK 299872
22 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)
23 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Unknown status NCT03098901 Not Applicable
24 ATTR Expanded Access Program (EAP) by Ionis Approved for marketing NCT03400098 Inotersen
25 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Approved for marketing NCT02939820 patisiran (ALN-TTR02)
26 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
27 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
28 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
29 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
30 Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology Recruiting NCT03842163
31 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577 Not Applicable
32 Mitochondrial Function in Transthyretin Amyloidosis Recruiting NCT03328338
33 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466 Not Applicable
34 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
35 Positron Emission Tomography / Magnetic Resonance Imaging in Aortic Stenosis Recruiting NCT03352089
36 Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy (BioTRAP) Recruiting NCT02713880
37 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy (TRAP2.1) Recruiting NCT01705626
38 Early Diagnosis of TTR Amyloidosis by Use of Molecular Biology Recruiting NCT03373370
39 Cardiac Amyloidosis Screening at Trigger Finger Release Recruiting NCT03886155
40 Screening for Hereditary Transthyretin Related Amyloidosis - an Internationales, Multicentre, Epidemiological Protocol (TRAM) Recruiting NCT03237494
41 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669 Not Applicable
42 Screening for Systemic Amyloidosis Via the Ligamentum Flavum Recruiting NCT03923920
43 Short-term Effects of TOLCAPONE on Transthyretin Stability in Subjects With Leptomeningeal TTR Amyloidosis (ATTR) Active, not recruiting NCT03591757 Early Phase 1 Tolcapone
44 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
45 Expanding the Biomarkers in Familial Amyloid Neuropathy: MRI and Motor Unit Estimation by Electrophysiological Study Not yet recruiting NCT03588468 Not Applicable
46 Prognostic Value of Myocardial Fibrosis in Severe Aortic Valve Stenosis Not yet recruiting NCT03585933

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:

42
Liver, Heart, Testes, Endothelial, Thyroid

Publications for Hereditary Transthyretin Amyloidosis

Articles related to Hereditary Transthyretin Amyloidosis:

(show top 50) (show all 90)
# Title Authors Year
1
Length-dependent truncal Aδ-fiber dysfunction in hereditary transthyretin amyloidosis: An intra-epidermal electrical stimulation study. ( 30981175 )
2019
2
Conjunctival lymphangiectasia: a novel ocular manifestation of hereditary transthyretin amyloidosis. ( 31074309 )
2019
3
Burden of Hereditary Transthyretin Amyloidosis on Quality of Life. ( 31093980 )
2019
4
6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). ( 30718023 )
2019
5
Solar Eruption in Hereditary Transthyretin Amyloidosis. ( 30803513 )
2019
6
Spinal Stenosis in Familial Transthyretin Amyloidosis. ( 30856118 )
2019
7
Association of Patisiran, an RNA Interference Therapeutic, With Regional Left Ventricular Myocardial Strain in Hereditary Transthyretin Amyloidosis: The APOLLO Study. ( 30878017 )
2019
8
The Effectiveness and Value of Patisiran and Inotersen for Hereditary Transthyretin Amyloidosis. ( 30589627 )
2019
9
Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas. ( 30350904 )
2019
10
Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy. ( 30365618 )
2018
11
Teaching NeuroImages: Morphology of lumbosacral dorsal root ganglia and plexus in hereditary transthyretin amyloidosis. ( 30397049 )
2018
12
FDA approves patisiran to treat hereditary transthyretin amyloidosis. ( 30158559 )
2018
13
Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial. ( 30169969 )
2018
14
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis. ( 30198232 )
2018
15
Kind and distribution of cutaneous sensation loss in hereditary transthyretin amyloidosis with polyneuropathy. ( 30219500 )
2018
16
The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: An ultrastructural study. ( 30243104 )
2018
17
Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis. ( 29855203 )
2018
18
Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation). ( 29859145 )
2018
19
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. ( 29972753 )
2018
20
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. ( 29972757 )
2018
21
Widespread Cardiac and Vasomotor Autonomic Dysfunction in Non-Val30Met Hereditary Transthyretin Amyloidosis. ( 29984770 )
2018
22
Treatment success in hereditary transthyretin amyloidosis. ( 30030478 )
2018
23
New Medications in the Treatment of Hereditary Transthyretin Amyloidosis. ( 30038442 )
2018
24
Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). ( 29511897 )
2018
25
The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population. ( 29520877 )
2018
26
Understanding the Disease Course and Therapeutic Benefit of Tafamidis Across Real-World Studies of Hereditary Transthyretin Amyloidosis with Polyneuropathy: A Proof of Concept for Integrative Data Analytic Approaches. ( 29611130 )
2018
27
Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis. ( 29655299 )
2018
28
Reduced left atrial myocardial deformation irrespective of cavity size: a potential cause for atrial arrhythmia in hereditary transthyretin amyloidosis. ( 29369708 )
2018
29
On-a-chip tryptic digestion of transthyretin: a step toward an integrated microfluidic system for the follow-up of familial transthyretin amyloidosis. ( 29383369 )
2018
30
Atrial Fibrillation and Central Nervous Complications in Liver Transplanted Hereditary Transthyretin Amyloidosis Patients. ( 29019809 )
2018
31
Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years. ( 29073801 )
2018
32
Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. ( 29177547 )
2018
33
Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis. ( 29209781 )
2018
34
Ocular Manifestations of Familial Transthyretin Amyloidosis. ( 29217097 )
2018
35
Positron emission tomography (PET) utilizing Pittsburgh compound B (PIB) for detection of amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR). ( 27645889 )
2018
36
Outcomes of Patients With Familial Transthyretin Amyloidosis After Liver Transplantation. ( 29187090 )
2017
37
Ocular Manifestations of Familial Transthyretin Amyloidosis. ( 28911993 )
2017
38
Serum Proteomic Variability Associated with Clinical Phenotype in Familial Transthyretin Amyloidosis (ATTRm). ( 28922609 )
2017
39
A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation. ( 28434367 )
2017
40
A Heart too Stiff to Beat: A Case of Familial Transthyretin Amyloidosis Cardiomyopathy. ( 28435766 )
2017
41
Clinicopathological and biochemical findings of late-onset hereditary transthyretin amyloidosis 16 years after liver transplantation: an autopsy case study. ( 28434327 )
2017
42
Hereditary transthyretin amyloidosis associated with a transthyretin variant Thr59Arg. ( 28434332 )
2017
43
Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation. ( 28081656 )
2017
44
Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. ( 28188196 )
2017
45
Cardiac Dysautonomia and Survival in Hereditary Transthyretin Amyloidosis. ( 27838301 )
2016
46
Cardiac Dysautonomia Predicts Long-Term Survival in Hereditary Transthyretin Amyloidosis After Liver Transplantation. ( 27838303 )
2016
47
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. ( 26734953 )
2016
48
(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. ( 26849806 )
2016
49
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis. ( 26894299 )
2016
50
Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative? ( 26308415 )
2015

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
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