MCID: AMY087
MIFTS: 57

Amyloidosis, Hereditary, Transthyretin-Related

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

Aliases & Classifications for Amyloidosis, Hereditary, Transthyretin-Related

MalaCards integrated aliases for Amyloidosis, Hereditary, Transthyretin-Related:

Name: Amyloidosis, Hereditary, Transthyretin-Related 53 12 49 13 69
Transthyretin Amyloidosis 53 12 49 24 71 14
Familial Amyloid Polyneuropathy 12 72 49 71
Transthyretin Amyloid Polyneuropathy 49 55 71
Familial Transthyretin Amyloidosis 12 23 49
Transthyretin Amyloid Neuropathy 49 55 71
Ttr Amyloid Neuropathy 49 55 71
Type I Familial Amyloid Polyneuropathy 24 51
Familial Amyloid Polyneuropathy Type I 55 71
Fap 53 71
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type 55
Transthyretin-Related Familial Amyloid Cardiomyopathy 55
Hereditary Oculoleptomeningeal Amyloid Angiopathy 69
Hereditary Amyloidosis, Transthyretin-Related 53
Transthyretin-Related Hereditary Amyloidosis 12
Hereditary Amyloidosis Transthyretin-Related 71
Familial Amyloid Neuropathy, Portuguese Type 69
Portuguese Type Familial Amyloid Neuropathy 24
Danish Type Familial Amyloid Cardiomyopathy 69
Type Ii Familial Amyloid Polyneuropathy 24
Familial Amyloid Polyneuropathy Type Ii 71
Amyloid Polyneuropathy, Familial; Fap 53
Portuguese Polyneuritic Amyloidosis 24
Ttr-Related Amyloid Cardiomyopathy 55
Amyloidosis, Transthyretin-Related 71
Meningocerebrovascular Amyloidosis 71
Amyloid Polyneuropathy, Swiss Type 69
Amyloidosis Transthyretin Related 49
Swiss Type Amyloid Polyneuropathy 24
Transthyretin Amyloid Cardiopathy 55
Familial Amyloid Polyneuropathies 51
Amyloid Polyneuropathy, Familial 53
Ttr-Related Cardiac Amyloidosis 55
Oculoleptomeningeal Amyloidosis 71
Amyloid Neuropathies, Familial 69
Attrv122i-Related Amyloidosis 55
Attrv30m-Related Amyloidosis 55
Corino De Andrade's Disease 12
Hereditary Attr Amyloidosis 49
Amyloidosis, Leptomeningeal 51
Leptomeningeal Amyloidosis 71
Senile Cardiac Amyloidosis 69
Familial Ttr Amyloidosis 23
Amyloid Polyneuropathy 71
Attrv122i Amyloidosis 55
Amyloidosis Ohio Type 71
Attrv30m Amyloidosis 55
Amyloid Neuropathies 69
Attr Cardiomyopathy 55
Amyloidosis Type 7 71
Ttr Amyloidosis 12
Amyloidosis Vii 71
Amyloidosis I 71
Amyl-Ttr 71
Attr 71

Characteristics:

Orphanet epidemiological data:

55
attrv30m amyloidosis
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan),1-9/100000 (Spain); Age of onset: Adult; Age of death: adult;
attrv122i amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in adulthood
highly variable phenotype
neuropathic, cardiac, leptomeningeal, and ocular predominance may occur
systemic amyloid deposition may occur


HPO:

31
amyloidosis, hereditary, transthyretin-related:
Onset and clinical course adult onset phenotypic variability progressive
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Because the penetrance for familial ttr 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 Amyloidosis, Hereditary, Transthyretin-Related

OMIM : 53 Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix (summary by Hund et al., 2001). Patients with transthyretin amyloidosis typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms. Before the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by Hund et al., 2001). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; 176300.0001) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss (176300.0006) or Maryland/German (176300.0003) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene (107650) has been referred to as FAP III or Iowa type (see 105200 and 107680.0010). The Finnish type of amyloidosis (105120) has been referred to as FAP IV and is caused by mutations in gelsolin (137350). Systems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful (Saraiva, 2002). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, 180300; familial Mediterranean fever, 249100), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see 104750). Ando et al. (2005) provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac. (105210)

MalaCards based summary : Amyloidosis, Hereditary, Transthyretin-Related, also known as transthyretin amyloidosis, is related to amyloidosis, finnish type and hereditary amyloidosis, and has symptoms including ataxia, constipation and headache. An important gene associated with Amyloidosis, Hereditary, Transthyretin-Related is TTR (Transthyretin), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and FOXA2 and FOXA3 transcription factor networks. The drugs Fluorides and Diflunisal have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and brain.

UniProtKB/Swiss-Prot : 71 Amyloidosis, transthyretin-related: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.

NIH Rare Diseases : 49 Familial transthyretin amyloidosis (FTA) is a progressive condition characterized by abnormal deposits of a protein called amyloid in the body's organs and tissues. Signs and symptoms can vary significantly depending on the location of deposits. Most people have nervous system symptoms that may affect the peripheral, autonomic or central nervous system (brain and spinal cord). Amyloid deposits in the nerves of the peripheral nervous system cause peripheral neuropathy (loss of sensation). Deposits affecting the autonomic nervous system cause a disruption to involuntary body functions, such as blood pressure, heart rate, and digestion. Other areas of the body affected may include the heart, kidneys, eyes, and gastrointestinal tract. FTA is caused by mutations in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR gene mutation will develop FTA. There is no treatment available that reverses damage caused by amyloid deposits, but there are treatments that may prevent or delay progression. Treatment depends on the tissues affected, and may include liver transplantation (which removes the source of the deposits), heart and/or kidney transplantation, vitrectomy, and/or various medications. Life expectancy depends on many factors and may range from several years to decades after symptoms begin. Last updated: 10/23/2017

Genetics Home Reference : 24 Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

Disease Ontology : 12 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has material basis in autosomal dominant inheritance of mutations in the TTR gene.

Wikipedia : 72 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

GeneReviews: NBK1194

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 32.8 GSN TTR
2 hereditary amyloidosis 32.0 APOA1 GSN TTR
3 amyloidosis 31.0 APOA1 GSN TTR
4 polyneuropathy 29.8 APOA1 GSN TTR
5 wild type attr amyloidosis 12.1
6 familial adenomatous polyposis 11.9
7 familial adenomatous polyposis 1 11.9
8 attenuated familial adenomatous polyposis 11.9
9 mismatch repair cancer syndrome 11.6
10 lattice corneal dystrophy 11.5
11 lattice corneal dystrophy type ii 11.5
12 familial adenomatous polyposis 2 11.5
13 mutyh-associated polyposis 11.3
14 melanoma 11.3
15 breast ductal carcinoma 11.2
16 glioma 11.2
17 familial amyloidosis, finnish type 11.1
18 hemophagocytic lymphohistiocytosis, familial, 5 11.1
19 infiltrative basal cell carcinoma 11.1
20 medulloblastoma 11.0
21 desmoid tumor 11.0
22 familial adenomatous polyposis 3 10.9
23 familial adenomatous polyposis 4 10.9
24 familial adenomatous polyposis due to 5q22.2 microdeletion 10.9
25 axin2-related attenuated familial adenomatous polyposis 10.9
26 desmoid disease, hereditary 10.8
27 gastric cancer 10.8
28 pouchitis 10.8
29 blepharochalasis 10.1 GSN TTR
30 pediatric multiple sclerosis 10.1 GSN TTR
31 autonomic peripheral neuropathy 10.1 MBTPS2 TTR
32 aging 10.1
33 amyloidosis aa 10.1 APOA1 TTR
34 autonomic nervous system disease 10.0 DBH TTR
35 neuropathy 9.9
36 pure autonomic failure 9.9 DBH TTR
37 testicular yolk sac tumor 9.9 APOA1 TTR
38 amyloid neuropathy 9.9 APOA1 GSN TTR
39 amyloidosis, familial visceral 9.9 APOA1 GSN TTR
40 spinocerebellar ataxia 1 9.8
41 ataxia and polyneuropathy, adult-onset 9.8
42 episodic pain syndrome, familial, 1 9.8
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
44 end stage renal failure 9.8
45 hepatitis 9.8
46 siderosis 9.8
47 autonomic neuropathy 9.8
48 mononeuropathy 9.8
49 dementia 9.8
50 diarrhea 9.8

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



Diseases related to Amyloidosis, Hereditary, Transthyretin-Related

Symptoms & Phenotypes for Amyloidosis, Hereditary, Transthyretin-Related

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
headache
seizures
tremor
nystagmus
more
Head And Neck Eyes:
nystagmus
visual impairment
amyloid deposition in the vitreous humor (variable expression)

Neurologic Peripheral Nervous System:
hyporeflexia
peripheral axonal neuropathy
sensory axonal polyneuropathy
ascending numbness and weakness
carpal tunnel syndrome

Genitourinary External Genitalia Male:
erectile dysfunction

Abdomen Gastroin testinal:
constipation
diarrhea
gastrointestinal dysautonomia

Cardiovascular Heart:
cardiomegaly
cardiomyopathy
conduction block

Genitourinary Bladder:
urinary incontinence

Muscle Soft Tissue:
muscle weakness due to peripheral neuropathy


Clinical features from OMIM:

105210

Human phenotypes related to Amyloidosis, Hereditary, Transthyretin-Related:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 constipation 31 HP:0002019
3 headache 31 HP:0002315
4 seizures 31 HP:0001250
5 tremor 31 HP:0001337
6 diarrhea 31 HP:0002014
7 muscle weakness 31 HP:0001324
8 hemiparesis 31 HP:0001269
9 nystagmus 31 HP:0000639
10 spasticity 31 HP:0001257
11 dysarthria 31 HP:0001260
12 dysautonomia 31 HP:0002459
13 hearing impairment 31 HP:0000365
14 visual impairment 31 HP:0000505
15 cardiomegaly 31 HP:0001640
16 cardiomyopathy 31 HP:0001638
17 stroke-like episode 31 HP:0002401
18 dementia 31 HP:0000726
19 hyporeflexia 31 HP:0001265
20 impotence 31 HP:0000802
21 polyneuropathy 31 HP:0001271
22 orthostatic hypotension due to autonomic dysfunction 31 HP:0004926
23 increased csf protein 31 HP:0002922
24 amyloidosis 31 HP:0011034
25 urinary incontinence 31 HP:0000020
26 paraplegia 31 HP:0010550
27 peripheral axonal neuropathy 31 HP:0003477
28 constrictive median neuropathy 31 HP:0012185
29 amyloid deposition in the vitreous humor 31 HP:0007841

UMLS symptoms related to Amyloidosis, Hereditary, Transthyretin-Related:


neuralgia, ataxia, constipation, diarrhea, headache, muscle spasticity, seizures, tremor

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorides Phase 4
2
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
3 Analgesics Phase 2, Phase 3
4 Analgesics, Non-Narcotic Phase 2, Phase 3
5 Anti-Inflammatory Agents Phase 2, Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
7 Antirheumatic Agents Phase 2, Phase 3
8 Cyclooxygenase Inhibitors Phase 2, Phase 3
9 Peripheral Nervous System Agents Phase 2, Phase 3
10
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
11
Tauroursodeoxycholic acid Approved, Investigational Phase 2,Phase 1 14605-22-2 12443252
12
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
13
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
14
Lenalidomide Approved Phase 2 191732-72-6 216326
15 Anti-Bacterial Agents Phase 2,Phase 1
16 Anti-Infective Agents Phase 2,Phase 1
17 Antimalarials Phase 2,Phase 1
18 Antiparasitic Agents Phase 2,Phase 1
19 Antiprotozoal Agents Phase 2,Phase 1
20 Antiviral Agents Phase 2,Phase 1
21 Cholagogues and Choleretics Phase 2,Phase 1
22 Gastrointestinal Agents Phase 2,Phase 1
23 Taurochenodeoxycholic Acid Phase 2,Phase 1
24 Antiparkinson Agents Phase 1, Phase 2
25 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
26 Angiogenesis Inhibitors Phase 2
27 Angiogenesis Modulating Agents Phase 2
28 Antiemetics Phase 2
29 Antineoplastic Agents, Hormonal Phase 2
30 Autonomic Agents Phase 2
31 BB 1101 Phase 2
32 Dexamethasone acetate Phase 2 1177-87-3
33 glucocorticoids Phase 2
34 HIV Protease Inhibitors Phase 2
35 Hormone Antagonists Phase 2
36 Hormones Phase 2
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
38 Immunosuppressive Agents Phase 2
39
protease inhibitors Phase 2
40 Antibodies Phase 2
41 Immune Sera Phase 2
42 Immunoglobulins Phase 2
43 Catechol Nutraceutical Phase 1, Phase 2
44
Coal tar Approved Phase 1 8007-45-2
45
Menthol Approved Not Applicable 2216-51-5 16666
46 Pharmaceutical Solutions

Interventional clinical trials:

(show top 50) (show all 57)

# Name Status NCT ID Phase Drugs
1 Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography Recruiting NCT01683825 Phase 4 F-18 florbetapir PET
2 The Role of F-18 Florbetapir in the Early Detection of Cardiac Amyloidosis Recruiting NCT03040427 Phase 4 F-18 florbetapir
3 Cardiac Uptake of 18F Florbetapir in Patients Undergoing Chemotherapy Not yet recruiting NCT03333551 Phase 4 F18 Florbetapir (amyvid) cardiac PET/CT imaging
4 Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 3 IONIS-TTR Rx;Placebo
5 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3 tafamidis
6 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
7 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
8 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
9 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)
10 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)
11 Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy Completed NCT01994889 Phase 3 Tafamidis;Tafamidis;Placebo
12 Long-term Safety of Tafamidis in Subjects With Transthyretin Cardiomyopathy Recruiting NCT02791230 Phase 3 Tafamidis meglumine
13 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
14 Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin Amyloidosis Active, not recruiting NCT00925002 Phase 3 Tafamidis
15 Safety And Efficacy Evaluation Of Fx-1006a In Patients With V122i Or Wild-Type Transthyretin (TTR) Amyloid Cardiomyopathy Active, not recruiting NCT00935012 Phase 3 tafamidis
16 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)
17 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
18 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
19 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
20 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
21 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
22 A Extension Study to Evaluate Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Cardiac Amyloidosis Completed NCT02292186 Phase 2 Revusiran (ALN-TTRSC)
23 Phase 2 Study to Evaluate ALN-TTRSC (Revusiran) in Patients With Transthyretin (TTR) Cardiac Amyloidosis Completed NCT01981837 Phase 2 ALN-TTRSC (revusiran) for subcutaneous administration
24 The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy Completed NCT00694161 Phase 2 Fx-1006A
25 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
26 Thalidomide/Dexamethasone Treatment And PET Evaluation In Organ Involvemenet of Cardiac Amyloidosis Recruiting NCT02966522 Phase 2 Thalidomide;Dexamethasone
27 Multiple Treatment Session Study to Assess GSK2398852 Administered Following and Along With GSK2315698 Active, not recruiting NCT03044353 Phase 2 GSK2315698 (CPHPC)
28 Study of AG10 in Amyloid Cardiomyopathy Not yet recruiting NCT03458130 Phase 2 AG10;Placebo Oral Tablet
29 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
30 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)
31 Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10 Recruiting NCT03294707 Phase 1 AG10 oral tablet;Placebo Oral Tablet
32 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
33 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
34 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
35 Frequency of Cardiac Amyloidosis in the Caribbean's. (TEAM Amylose) Completed NCT03322319 Not Applicable
36 DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis Completed NCT02252653
37 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577
38 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
39 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466
40 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
41 Positron Emission Tomography / Magnetic Resonance Imaging in Aortic Stenosis Recruiting NCT03352089
42 Early Diagnosis of TTR Amyloidosis by Use of Molecular Biology Recruiting NCT03373370
43 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669
44 Physiologic Assessment of Microvascular Function in Patients With Cardiac Amyloidosis Recruiting NCT02798705
45 Molecular Imaging of Primary Amyloid Cardiomyopathy Recruiting NCT02641145 Not Applicable
46 Transthyretin Cardiac Amyloidosis in HFpEF Recruiting NCT03414632 Early Phase 1 99mTc-PYP
47 PET/MRI Evaluation of Cardiac Amyloid Recruiting NCT03119558 Early Phase 1 18F‑Florbetaben (Neuraceq®) PET/MRI
48 The Role of Occult Cardiac Amyloid in the Elderly With Aortic Stenosis. Recruiting NCT03029026
49 Assessment of Cardiac Fixation During PET Using a New Drug Within Amyloid Cardiac Injuries. Recruiting NCT03232632 Early Phase 1 PET with 18 F-Flutemetamol
50 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790

Search NIH Clinical Center for Amyloidosis, Hereditary, Transthyretin-Related

Genetic Tests for Amyloidosis, Hereditary, Transthyretin-Related

Anatomical Context for Amyloidosis, Hereditary, Transthyretin-Related

MalaCards organs/tissues related to Amyloidosis, Hereditary, Transthyretin-Related:

38
Heart, Spinal Cord, Brain, Kidney, Eye, Liver, Bone

Publications for Amyloidosis, Hereditary, Transthyretin-Related

Articles related to Amyloidosis, Hereditary, Transthyretin-Related:

(show top 50) (show all 119)
# Title Authors Year
1
Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). ( 29424556 )
2018
2
Transthyretin amyloidosis: a little history of hereditary amyloidosis. ( 28434305 )
2017
3
Serum Proteomic Variability Associated with Clinical Phenotype in Familial Transthyretin Amyloidosis (ATTRm). ( 28922609 )
2017
4
Ocular Manifestations of Familial Transthyretin Amyloidosis. ( 28911993 )
2017
5
End-stage renal failure due to transthyretin amyloidosis after liver transplantation: outcomes in 19 registry cases. ( 28434351 )
2017
6
Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation. ( 28081656 )
2017
7
Effect of doxycycline and ursodeoxycholic acid on transthyretin amyloidosis. ( 28042702 )
2016
8
Curcumin: A multi-target disease-modifying agent for late-stage transthyretin amyloidosis. ( 27197872 )
2016
9
Positron emission tomography (PET) utilizing Pittsburgh compound B (PIB) for detection of amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR). ( 27645889 )
2016
10
Cardiac Findings and Events Observed in an Open-Label Clinical Trial of Tafamidis in Patients with non-Val30Met and non-Val122Ile Hereditary Transthyretin Amyloidosis. ( 25743445 )
2015
11
Hereditary Transthyretin Amyloidosis in Eight Chinese Families. ( 26521788 )
2015
12
A representative case of hereditary transthyretin amyloidosis complicated by intramyocardial hemorrhage. ( 25427692 )
2015
13
Schwann cells contribute to neurodegeneration in transthyretin amyloidosis. ( 25693163 )
2015
14
Outcome of gastric emptying and gastrointestinal symptoms after liver transplantation for hereditary transthyretin amyloidosis. ( 25908211 )
2015
15
Liver transplantation in transthyretin amyloidosis: issues and challenges. ( 25482846 )
2015
16
Reply: Liver transplantation in transthyretin amyloidosis: Issues and challenges. ( 25891323 )
2015
17
Novel drugs targeting transthyretin amyloidosis. ( 24464360 )
2014
18
First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis. ( 25130926 )
2014
19
THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. ( 24767411 )
2014
20
CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. ( 25091367 )
2014
21
Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs. ( 24601850 )
2014
22
Noninvasive risk stratification of patients with transthyretin amyloidosis. ( 24726252 )
2014
23
Molecular tweezers targeting transthyretin amyloidosis. ( 24459092 )
2014
24
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt). ( 25367359 )
2014
25
Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review. ( 24601824 )
2014
26
Native T1 Mapping in Transthyretin Amyloidosis. ( 24412190 )
2014
27
Recent progress in the understanding and treatment of transthyretin amyloidosis. ( 24749898 )
2014
28
Interleukin-1 signaling pathway as a therapeutic target in transthyretin amyloidosis. ( 24918964 )
2014
29
Recent advances in transthyretin amyloidosis therapy. ( 25228988 )
2014
30
Tuning transthyretin amyloidosis inhibition properties of iododiflunisal by combinatorial engineering of the non-salicylic ring substitutions. ( 25394203 )
2014
31
Safety and efficacy of RNAi therapy for transthyretin amyloidosis. ( 23984729 )
2013
32
Role of natriuretic peptide to predict cardiac abnormalities in patients with hereditary transthyretin amyloidosis. ( 23964755 )
2013
33
Transthyretin amyloidosis with pulmonary involvement in a patient with monoclonal gammapathy. ( 24142783 )
2013
34
Derivatization strategies for CE-LIF analysis of biomarkers: towards a clinical diagnostic of familial transthyretin amyloidosis. ( 24254376 )
2013
35
The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. ( 23193943 )
2013
36
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. ( 24101373 )
2013
37
Liver transplantation and transthyretin amyloidosis. ( 23169427 )
2013
38
Loss of gastric interstitial cells of Cajal in patients with hereditary transthyretin amyloidosis. ( 23642163 )
2013
39
Induced pluripotent stem cell modeling of multisystemic, hereditary transthyretin amyloidosis. ( 24286032 )
2013
40
THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. ( 23193944 )
2013
41
Systemic transthyretin amyloidosis in a patient with bent spine syndrome. ( 23638719 )
2013
42
Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene. ( 23317988 )
2013
43
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. ( 23438977 )
2013
44
Genotype, echocardiography, and survival in familial transthyretin amyloidosis. ( 24131106 )
2013
45
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). ( 22877808 )
2012
46
Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea. ( 23346293 )
2012
47
Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. ( 22584381 )
2012
48
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis. ( 22580845 )
2012
49
99mTc DPD is the preferential bone tracer for diagnosis of cardiac transthyretin amyloidosis. ( 22785530 )
2012
50
Diagnosis and therapeutic approaches to transthyretin amyloidosis. ( 22471980 )
2012

Variations for Amyloidosis, Hereditary, Transthyretin-Related

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Hereditary, Transthyretin-Related:

71 (show top 50) (show all 73)
# Symbol AA change Variation ID SNP ID
1 TTR p.Cys30Arg VAR_007547 rs121918083
2 TTR p.Asp38Glu VAR_007548
3 TTR p.Asp38Gly VAR_007549 rs121918098
4 TTR p.Val40Ile VAR_007550 rs121918093
5 TTR p.Pro44Ser VAR_007551 rs11541790
6 TTR p.Val50Ala VAR_007552 rs79977247
7 TTR p.Val50Leu VAR_007553 rs28933979
8 TTR p.Val50Met VAR_007554 rs28933979
9 TTR p.Phe53Ile VAR_007555 rs121918068
10 TTR p.Phe53Leu VAR_007556 rs121918068
11 TTR p.Ala56Pro VAR_007557 rs121918077
12 TTR p.Glu62Gly VAR_007558 rs11541796
13 TTR p.Ala65Asp VAR_007559 rs730881169
14 TTR p.Ala65Thr VAR_007560 rs121918078
15 TTR p.Gly67Ala VAR_007561 rs121918090
16 TTR p.Gly67Arg VAR_007562 rs387906523
17 TTR p.Gly67Val VAR_007563
18 TTR p.Thr69Ala VAR_007564 rs121918081
19 TTR p.Ser70Ile VAR_007565 rs121918080
20 TTR p.Ser70Arg VAR_007566 rs386134269
21 TTR p.Ser72Pro VAR_007567
22 TTR p.Glu74Gly VAR_007568
23 TTR p.Leu75Pro VAR_007569 rs121918079
24 TTR p.Leu78His VAR_007570 rs121918069
25 TTR p.Leu78Arg VAR_007571 rs121918069
26 TTR p.Thr79Lys VAR_007572 rs730881163
27 TTR p.Thr80Ala VAR_007573 rs121918070
28 TTR p.Glu81Lys VAR_007574 rs121918086
29 TTR p.Phe84Leu VAR_007575 rs121918091
30 TTR p.Ile88Leu VAR_007576 rs121918085
31 TTR p.Tyr89His VAR_007577 rs121918100
32 TTR p.Lys90Asn VAR_007578 rs267607160
33 TTR p.Val91Ala VAR_007579 rs121918084
34 TTR p.Ile93Val VAR_007580
35 TTR p.Ser97Tyr VAR_007582 rs121918071
36 TTR p.Ile104Asn VAR_007583
37 TTR p.Ile104Ser VAR_007584 rs121918072
38 TTR p.Glu109Gln VAR_007585 rs121918082
39 TTR p.Ala111Ser VAR_007587
40 TTR p.Ala117Gly VAR_007588 rs121918087
41 TTR p.Ile127Val VAR_007592 rs121918089
42 TTR p.Leu131Met VAR_007594 rs121918073
43 TTR p.Tyr134Cys VAR_007595 rs121918075
44 TTR p.Tyr136Ser VAR_007596 rs730881167
45 TTR p.Val142Ile VAR_007600 rs76992529
46 TTR p.Val48Met VAR_010658
47 TTR p.Glu109Lys VAR_010659
48 TTR p.Leu32Pro VAR_038959 rs121918094
49 TTR p.Ser43Asn VAR_038961
50 TTR p.Val50Gly VAR_038962 rs79977247

ClinVar genetic disease variations for Amyloidosis, Hereditary, Transthyretin-Related:

6 (show all 41)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
2 TTR NM_000371.3(TTR): c.157T> A (p.Phe53Ile) single nucleotide variant Pathogenic rs121918068 GRCh37 Chromosome 18, 29172946: 29172946
3 TTR NM_000371.3(TTR): c.401A> G (p.Tyr134Cys) single nucleotide variant Pathogenic rs121918075 GRCh37 Chromosome 18, 29178595: 29178595
4 TTR NM_000371.3(TTR): c.233T> A (p.Leu78His) single nucleotide variant Pathogenic rs121918069 GRCh37 Chromosome 18, 29175115: 29175115
5 TTR NM_000371.3(TTR): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918070 GRCh37 Chromosome 18, 29175120: 29175120
6 TTR NM_000371.3(TTR): c.290C> A (p.Ser97Tyr) single nucleotide variant Pathogenic rs121918071 GRCh37 Chromosome 18, 29175172: 29175172
7 TTR NM_000371.3(TTR): c.311T> G (p.Ile104Ser) single nucleotide variant Pathogenic rs121918072 GRCh37 Chromosome 18, 29175193: 29175193
8 TTR NM_000371.3(TTR): c.391C> A (p.Leu131Met) single nucleotide variant Pathogenic rs121918073 GRCh37 Chromosome 18, 29178585: 29178585
9 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618
10 TTR NM_000371.3(TTR): c.185A> G (p.Glu62Gly) single nucleotide variant Pathogenic rs11541796 GRCh37 Chromosome 18, 29172974: 29172974
11 TTR NM_000371.3(TTR): c.210T> G (p.Ser70Arg) single nucleotide variant Pathogenic rs121918076 GRCh37 Chromosome 18, 29175092: 29175092
12 TTR NM_000371.3(TTR): c.149T> C (p.Val50Ala) single nucleotide variant Pathogenic rs79977247 GRCh37 Chromosome 18, 29172938: 29172938
13 TTR NM_000371.3(TTR): c.166G> C (p.Ala56Pro) single nucleotide variant Pathogenic rs121918077 GRCh37 Chromosome 18, 29172955: 29172955
14 TTR NM_000371.3(TTR): c.416C> T (p.Thr139Met) single nucleotide variant risk factor rs28933981 GRCh37 Chromosome 18, 29178610: 29178610
15 TTR NM_000371.3(TTR): c.233T> G (p.Leu78Arg) single nucleotide variant Pathogenic rs121918069 GRCh37 Chromosome 18, 29175115: 29175115
16 TTR NM_000371.3(TTR): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387906523 GRCh37 Chromosome 18, 29172988: 29172988
17 TTR NM_000371.3(TTR): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic rs104894664 GRCh37 Chromosome 18, 29172922: 29172922
18 TTR NM_000371.3(TTR): c.224T> C (p.Leu75Pro) single nucleotide variant Pathogenic rs121918079 GRCh37 Chromosome 18, 29175106: 29175106
19 TTR NM_000371.3(TTR): c.209G> T (p.Ser70Ile) single nucleotide variant Pathogenic rs121918080 GRCh37 Chromosome 18, 29175091: 29175091
20 TTR NM_000371.3(TTR): c.148G> C (p.Val50Leu) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
21 TTR NM_000371.3(TTR): c.205A> G (p.Thr69Ala) single nucleotide variant Pathogenic rs121918081 GRCh37 Chromosome 18, 29175087: 29175087
22 TTR NM_000371.3(TTR): c.325G> C (p.Glu109Gln) single nucleotide variant Pathogenic rs121918082 GRCh37 Chromosome 18, 29175207: 29175207
23 TTR NM_000371.3(TTR): c.270A> C (p.Lys90Asn) single nucleotide variant Pathogenic rs267607160 GRCh37 Chromosome 18, 29175152: 29175152
24 TTR NM_000371.3(TTR): c.88T> C (p.Cys30Arg) single nucleotide variant Pathogenic rs121918083 GRCh37 Chromosome 18, 29172877: 29172877
25 TTR NM_000371.3(TTR): c.272T> C (p.Val91Ala) single nucleotide variant Pathogenic rs121918084 GRCh37 Chromosome 18, 29175154: 29175154
26 TTR NM_000371.3(TTR): c.262A> T (p.Ile88Leu) single nucleotide variant Pathogenic rs121918085 GRCh37 Chromosome 18, 29175144: 29175144
27 TTR NM_000371.3(TTR): c.241G> A (p.Glu81Lys) single nucleotide variant Pathogenic rs121918086 GRCh37 Chromosome 18, 29175123: 29175123
28 TTR NM_000371.3(TTR): c.350C> G (p.Ala117Gly) single nucleotide variant Pathogenic rs121918087 GRCh37 Chromosome 18, 29178544: 29178544
29 TTR NM_000371.3(TTR): c.379A> G (p.Ile127Val) single nucleotide variant Pathogenic/Likely pathogenic rs121918089 GRCh37 Chromosome 18, 29178573: 29178573
30 TTR NM_000371.3(TTR): c.200G> C (p.Gly67Ala) single nucleotide variant Pathogenic rs121918090 GRCh37 Chromosome 18, 29172989: 29172989
31 TTR NM_000371.3(TTR): c.250T> C (p.Phe84Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918091 GRCh37 Chromosome 18, 29175132: 29175132
32 TTR NM_000371.3(TTR): c.118G> A (p.Val40Ile) single nucleotide variant Pathogenic rs121918093 GRCh37 Chromosome 18, 29172907: 29172907
33 TTR NM_000371.3(TTR): c.157T> C (p.Phe53Leu) single nucleotide variant Pathogenic rs121918068 GRCh37 Chromosome 18, 29172946: 29172946
34 TTR NM_000371.3(TTR): c.95T> C (p.Leu32Pro) single nucleotide variant Pathogenic rs121918094 GRCh37 Chromosome 18, 29172884: 29172884
35 TTR NM_000371.3(TTR): c.199G> A (p.Gly67Arg) single nucleotide variant Pathogenic rs387906523 GRCh37 Chromosome 18, 29172988: 29172988
36 TTR NM_000371.3(TTR): c.424_426delGTC (p.Val142del) deletion Pathogenic/Likely pathogenic rs121918096 GRCh37 Chromosome 18, 29178618: 29178620
37 TTR NM_000371.3(TTR): c.191T> C (p.Phe64Ser) single nucleotide variant Pathogenic rs104894665 GRCh37 Chromosome 18, 29172980: 29172980
38 TTR NM_000371.3(TTR): c.113A> G (p.Asp38Gly) single nucleotide variant Pathogenic rs121918098 GRCh37 Chromosome 18, 29172902: 29172902
39 TTR NM_000371.3(TTR): c.349G> T (p.Ala117Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607161 GRCh37 Chromosome 18, 29178543: 29178543
40 TTR NM_000371.3(TTR): c.208A> C (p.Ser70Arg) single nucleotide variant Likely pathogenic rs386134269 GRCh37 Chromosome 18, 29175090: 29175090
41 TTR NM_000371.3(TTR): c.210T> A (p.Ser70Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918076 GRCh37 Chromosome 18, 29175092: 29175092

Expression for Amyloidosis, Hereditary, Transthyretin-Related

Search GEO for disease gene expression data for Amyloidosis, Hereditary, Transthyretin-Related.

Pathways for Amyloidosis, Hereditary, Transthyretin-Related

Pathways related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.06 APOA1 GSN
2 10.27 APOA1 TTR

GO Terms for Amyloidosis, Hereditary, Transthyretin-Related

Cellular components related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.8 APOA1 DBH GSN

Biological processes related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.26 APOA1 MBTPS2
2 cholesterol metabolic process GO:0008203 9.16 APOA1 MBTPS2
3 retinoid metabolic process GO:0001523 8.96 APOA1 TTR
4 cellular protein metabolic process GO:0044267 8.8 APOA1 GSN TTR

Sources for Amyloidosis, Hereditary, Transthyretin-Related

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
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