AMYL-TTR
MCID: AMY087
MIFTS: 60

Amyloidosis, Hereditary, Transthyretin-Related (AMYL-TTR)

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

Aliases & Classifications for Amyloidosis, Hereditary, Transthyretin-Related

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

Name: Amyloidosis, Hereditary, Transthyretin-Related 57 12 53 13 40 73
Transthyretin Amyloidosis 57 12 53 25 75 15
Familial Amyloid Polyneuropathy 12 76 53 75
Transthyretin Amyloid Polyneuropathy 53 59 75
Familial Transthyretin Amyloidosis 12 24 53
Transthyretin Amyloid Neuropathy 53 59 75
Ttr Amyloid Neuropathy 53 59 75
Type I Familial Amyloid Polyneuropathy 25 55
Familial Amyloid Polyneuropathy Type I 59 75
Fap 57 75
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type 59
Transthyretin-Related Familial Amyloid Cardiomyopathy 59
Hereditary Oculoleptomeningeal Amyloid Angiopathy 73
Hereditary Amyloidosis, Transthyretin-Related 57
Transthyretin-Related Hereditary Amyloidosis 12
Hereditary Amyloidosis Transthyretin-Related 75
Familial Amyloid Neuropathy, Portuguese Type 73
Portuguese Type Familial Amyloid Neuropathy 25
Danish Type Familial Amyloid Cardiomyopathy 73
Type Ii Familial Amyloid Polyneuropathy 25
Familial Amyloid Polyneuropathy Type Ii 75
Amyloid Polyneuropathy, Familial; Fap 57
Portuguese Polyneuritic Amyloidosis 25
Ttr-Related Amyloid Cardiomyopathy 59
Amyloidosis, Transthyretin-Related 75
Meningocerebrovascular Amyloidosis 75
Amyloid Polyneuropathy, Swiss Type 73
Amyloidosis Transthyretin Related 53
Swiss Type Amyloid Polyneuropathy 25
Transthyretin Amyloid Cardiopathy 59
Familial Amyloid Polyneuropathies 55
Amyloid Polyneuropathy, Familial 57
Ttr-Related Cardiac Amyloidosis 59
Oculoleptomeningeal Amyloidosis 75
Amyloid Neuropathies, Familial 73
Attrv122i-Related Amyloidosis 59
Attrv30m-Related Amyloidosis 59
Corino De Andrade's Disease 12
Hereditary Attr Amyloidosis 53
Amyloidosis, Leptomeningeal 55
Leptomeningeal Amyloidosis 75
Senile Cardiac Amyloidosis 73
Familial Ttr Amyloidosis 24
Amyloid Polyneuropathy 75
Attrv122i Amyloidosis 59
Amyloidosis Ohio Type 75
Attrv30m Amyloidosis 59
Amyloid Neuropathies 73
Attr Cardiomyopathy 59
Amyloidosis Type 7 75
Ttr Amyloidosis 12
Amyloidosis Vii 75
Amyloidosis I 75
Amyl-Ttr 75
Attr 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
amyloidosis, hereditary, transthyretin-related:
Onset and clinical course adult onset phenotypic variability progressive
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 57 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 and polyneuropathy, and has symptoms including seizures, ataxia and tremor. 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 Diflunisal and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and spinal cord, and related phenotypes are constipation and nephropathy

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.

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...

GeneReviews: NBK1194

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

Diseases in the Amyloidosis family:

Amyloidosis, Hereditary, Transthyretin-Related Al Amyloidosis
Amyloidosis Aa Hereditary Amyloidosis
Primary Localized Amyloidosis Ah Amyloidosis

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

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 amyloidosis 31.5 TTR GSN APOA1
2 polyneuropathy 30.4 TTR GSN APOA1
3 hereditary amyloidosis 30.3 TTR GSN APOA1
4 cerebral amyloid angiopathy, cst3-related 30.1 TTR GSN
5 amyloidosis, finnish type 29.8 TTR GSN
6 pure autonomic failure 29.8 TTR DBH
7 wild type attr amyloidosis 12.3
8 familial adenomatous polyposis 12.2
9 familial adenomatous polyposis 1 12.1
10 attenuated familial adenomatous polyposis 12.0
11 mismatch repair cancer syndrome 11.8
12 lattice corneal dystrophy 11.6
13 lattice corneal dystrophy type ii 11.6
14 familial adenomatous polyposis 2 11.6
15 mutyh-associated polyposis 11.5
16 breast ductal carcinoma 11.4
17 glioma 11.3
18 gastric cancer 11.3
19 desmoid tumor 11.3
20 familial amyloidosis, finnish type 11.3
21 hemophagocytic lymphohistiocytosis, familial, 5 11.2
22 infiltrative basal cell carcinoma 11.2
23 medulloblastoma 11.1
24 familial adenomatous polyposis 3 11.0
25 familial adenomatous polyposis 4 11.0
26 familial adenomatous polyposis due to 5q22.2 microdeletion 11.0
27 axin2-related attenuated familial adenomatous polyposis 11.0
28 desmoid disease, hereditary 11.0
29 pouchitis 11.0
30 neuropathy 10.3
31 colorectal cancer 10.3
32 carpal tunnel syndrome 10.2
33 mononeuropathy of the median nerve, mild 10.2
34 fabry disease 10.1
35 breast cancer 10.1
36 pancreatic ductal adenocarcinoma 10.1
37 polycystic kidney disease 10.1
38 chronic interstitial cystitis 10.1
39 blepharochalasis 10.1 TTR GSN
40 demyelinating polyneuropathy 10.1
41 aging 10.1
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
43 atrial fibrillation 10.1
44 hypertrophic cardiomyopathy 10.1
45 dysautonomia 10.1
46 pediatric multiple sclerosis 10.1 TTR GSN
47 plasma cell neoplasm 10.1
48 thyroid cancer, nonmedullary, 1 10.1
49 adenocarcinoma 10.1
50 adenoma 10.1

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:

57
Head And Neck Eyes:
nystagmus
visual impairment
amyloid deposition in the vitreous humor (variable expression)

Abdomen Gastrointestinal:
constipation
diarrhea
gastrointestinal dysautonomia

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

Genitourinary External Genitalia Male:
erectile dysfunction

Neurologic Central Nervous System:
nystagmus
seizures
ataxia
spasticity
dysarthria
more
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:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
2 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
3 cardiomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001640
4 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
5 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
6 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
7 cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001638
8 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
9 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
10 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
11 vitreous floaters 59 32 frequent (33%) Frequent (79-30%) HP:0100832
12 constrictive median neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0012185
13 nystagmus 32 HP:0000639
14 seizures 32 HP:0001250
15 ataxia 32 HP:0001251
16 spasticity 32 HP:0001257
17 dysarthria 32 HP:0001260
18 muscle weakness 32 HP:0001324
19 tremor 32 HP:0001337
20 dysautonomia 59 Frequent (79-30%)
21 hearing impairment 32 HP:0000365
22 visual impairment 32 HP:0000505
23 abnormal renal physiology 59 Frequent (79-30%)
24 stroke-like episode 32 HP:0002401
25 dementia 32 HP:0000726
26 hyporeflexia 32 HP:0001265
27 headache 32 HP:0002315
28 urinary incontinence 32 HP:0000020
29 peripheral axonal neuropathy 32 HP:0003477
30 orthostatic hypotension due to autonomic dysfunction 32 HP:0004926
31 hemiparesis 32 HP:0001269
32 increased csf protein 32 HP:0002922
33 amyloidosis 32 HP:0011034
34 abnormal test result 59 Very frequent (99-80%)
35 paraplegia 32 HP:0010550
36 abnormal autonomic nervous system physiology 32 frequent (33%) HP:0012332
37 amyloid deposition in the vitreous humor 32 HP:0007841

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


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

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

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

(show all 28)
# 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 Antirheumatic Agents Phase 2, Phase 3
4 Peripheral Nervous System Agents Phase 2, Phase 3
5 Analgesics, Non-Narcotic Phase 2, Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
7 Cyclooxygenase Inhibitors Phase 2, Phase 3
8 Anti-Inflammatory Agents Phase 2, Phase 3
9 Pharmaceutical Solutions Phase 2, Phase 3
10
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
11
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
12
Tauroursodeoxycholic acid Experimental, Investigational Phase 2,Phase 1 14605-22-2 12443252
13 Gastrointestinal Agents Phase 2,Phase 1
14 Antiparasitic Agents Phase 2,Phase 1
15 Antiprotozoal Agents Phase 2,Phase 1
16 Anti-Bacterial Agents Phase 2,Phase 1
17 Taurochenodeoxycholic Acid Phase 2,Phase 1
18 Antiviral Agents Phase 2,Phase 1
19 Antimalarials Phase 2,Phase 1
20 Cholagogues and Choleretics Phase 2,Phase 1
21 Anti-Infective Agents Phase 2,Phase 1
22 Antiparkinson Agents Phase 1, Phase 2,Early Phase 1
23 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2,Early Phase 1
24 Catechol Phase 1, Phase 2,Early Phase 1
25
Curcumin Approved, Experimental, Investigational 458-37-7 969516
26
Levodopa Approved Early Phase 1 59-92-7 6047
27
Carbidopa Approved Early Phase 1 28860-95-9 34359 38101
28 Tea

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 HELIOS-A: A Study of Vutrisiran (ALN-TTRSC02) in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
2 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
3 Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
4 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3 tafamidis
5 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
6 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
7 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
8 Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin Amyloidosis Active, not recruiting NCT00925002 Phase 3 Tafamidis
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 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
11 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)
12 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)
13 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
14 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
15 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
16 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
17 24 Month Open Label Study of the Tolerability and Efficacy of Inotersen in TTR Amyloid Cardiomyopathy Patients Not yet recruiting NCT03702829 Phase 2 Inotersen
18 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
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 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)
21 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577 Not Applicable
22 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
23 Mitochondrial Function in Transthyretin Amyloidosis Recruiting NCT03328338
24 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
25 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
26 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
27 ATTR Expanded Access Program (EAP) by Ionis Approved for marketing NCT03400098 Inotersen
28 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Approved for marketing NCT02939820 patisiran (ALN-TTR02)
29 Short-term Effects of TOLCAPONE on Transthyretin Stability in Subjects With Leptomeningeal TTR Amyloidosis (ATTR) Recruiting NCT03591757 Early Phase 1 Tolcapone
30 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
31 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901 Not Applicable
32 Expanding the Biomarkers in Familial Amyloid Neuropathy: MRI and Motor Unit Estimation by Electrophysiological Study Not yet recruiting NCT03588468 Not Applicable
33 Positron Emission Tomography / Magnetic Resonance Imaging in Aortic Stenosis Recruiting NCT03352089
34 Early Diagnosis of TTR Amyloidosis by Use of Molecular Biology Recruiting NCT03373370
35 Prognostic Value of Myocardial Fibrosis in Severe Aortic Valve Stenosis Not yet recruiting NCT03585933
36 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669 Not Applicable
37 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
38 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122

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:

41
Heart, Liver, Spinal Cord, Kidney, Brain, Eye, Testes

Publications for Amyloidosis, Hereditary, Transthyretin-Related

Articles related to Amyloidosis, Hereditary, Transthyretin-Related:

(show top 50) (show all 230)
# Title Authors Year
1
Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). ( 29424556 )
2018
2
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 29972750 )
2018
3
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. ( 29972753 )
2018
4
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. ( 29972757 )
2018
5
Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis. ( 29209781 )
2018
6
True, true unrelated? Coexistence of Waldenstrom's macroglobulinemia and cardiac transthyretin Amyloidosis. ( 29674499 )
2018
7
The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: An ultrastructural study. ( 30243104 )
2018
8
Non-Val30Met mutation, septal hypertrophy, and cardiac denervation in patients with mutant transthyretin amyloidosis. ( 30284755 )
2018
9
Hepatocyte-like cells reveal novel role of SERPINA1 in transthyretin amyloidosis. ( 30333144 )
2018
10
Upper Limb Onset of Hereditary Transthyretin Amyloidosis is common in Non-Endemic Areas. ( 30350904 )
2018
11
Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy. ( 30365618 )
2018
12
Atypical presentation of transthyretin amyloidosis in a non-endemic area. ( 30390992 )
2018
13
Teaching NeuroImages: Morphology of lumbosacral dorsal root ganglia and plexus in hereditary transthyretin amyloidosis. ( 30397049 )
2018
14
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 30462941 )
2018
15
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 30484623 )
2018
16
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 30484624 )
2018
17
Recent Advances in Oligonucleotide-Based Therapy for Transthyretin Amyloidosis: Clinical Impact and Future Prospects. ( 30504675 )
2018
18
Widespread Cardiac and Vasomotor Autonomic Dysfunction in Non-Val30Met Hereditary Transthyretin Amyloidosis. ( 29984770 )
2018
19
Myocardial Contraction Fraction by M-Mode Echocardiography Is Superior to Ejection Fraction in Predicting Mortality in Transthyretin Amyloidosis. ( 30010028 )
2018
20
Treatment success in hereditary transthyretin amyloidosis. ( 30030478 )
2018
21
New Medications in the Treatment of Hereditary Transthyretin Amyloidosis. ( 30038442 )
2018
22
A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser). ( 30039724 )
2018
23
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. ( 30070416 )
2018
24
Characterizing the High Disease Burden of Transthyretin Amyloidosis for Patients and Caregivers. ( 30073497 )
2018
25
Enthalpy-Driven Stabilization of Transthyretin by AG10 Mimics a Naturally Occurring Genetic Variant That Protects from Transthyretin Amyloidosis. ( 30133284 )
2018
26
FDA approves patisiran to treat hereditary transthyretin amyloidosis. ( 30158559 )
2018
27
Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial. ( 30169969 )
2018
28
Right ventricular involvement in transthyretin amyloidosis. ( 30193533 )
2018
29
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis. ( 30198232 )
2018
30
Kind and distribution of cutaneous sensation loss in hereditary transthyretin amyloidosis with polyneuropathy. ( 30219500 )
2018
31
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
32
Positive Effectiveness of Tafamidis in Delaying Disease Progression in Transthyretin Familial Amyloid Polyneuropathy up to 2 Years: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). ( 29633228 )
2018
33
Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis. ( 29655299 )
2018
34
Outcomes After Cardiac Transplant for Wild Type Transthyretin Amyloidosis. ( 29677073 )
2018
35
Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis. ( 29855203 )
2018
36
Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation). ( 29859145 )
2018
37
Unmasking Early Wild-Type Transthyretin Amyloidosis Cardiomyopathy in a Patient With Refractory Atrial Fibrillation and Unremarkable Cardiac Imaging. ( 29921704 )
2018
38
Ocular Manifestations of Familial Transthyretin Amyloidosis. ( 29217097 )
2018
39
Transthyretin amyloidosis in a septuagenarian masquerading as hypertrophic cardiomyopathy: the importance of multimodality imaging. ( 29272373 )
2018
40
'A new staging system for cardiac transthyretin amyloidosis': is it already on the verge of obsolescence? ( 29351628 )
2018
41
Reduced left atrial myocardial deformation irrespective of cavity size: a potential cause for atrial arrhythmia in hereditary transthyretin amyloidosis. ( 29369708 )
2018
42
On-a-chip tryptic digestion of transthyretin: a step toward an integrated microfluidic system for the follow-up of familial transthyretin amyloidosis. ( 29383369 )
2018
43
Normal scores of deep breathing tests: beware of dysrhythmia in transthyretin amyloidosis. ( 29394116 )
2018
44
Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). ( 29511897 )
2018
45
The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population. ( 29520877 )
2018
46
Native T1 and Extracellular Volume in Transthyretin Amyloidosis. ( 29550324 )
2018
47
Atrial Fibrillation and Central Nervous Complications in Liver Transplanted Hereditary Transthyretin Amyloidosis Patients. ( 29019809 )
2018
48
A new staging system for cardiac transthyretin amyloidosis. ( 29048471 )
2018
49
Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years. ( 29073801 )
2018
50
Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. ( 29177547 )
2018

Variations for Amyloidosis, Hereditary, Transthyretin-Related

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

75 (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 top 50) (show all 178)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTR NM_000371.3(TTR): c.200+2T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29172991: 29172991
2 TTR NM_000371.3(TTR): c.200+2T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31593028: 31593028
3 TTR NM_000371.3(TTR): c.239C> T (p.Thr80Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29175121: 29175121
4 TTR NM_000371.3(TTR): c.239C> T (p.Thr80Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31595158: 31595158
5 TTR NM_000371.3(TTR): c.406T> C (p.Tyr136His) single nucleotide variant Uncertain significance rs766909913 GRCh37 Chromosome 18, 29178600: 29178600
6 TTR NM_000371.3(TTR): c.406T> C (p.Tyr136His) single nucleotide variant Uncertain significance rs766909913 GRCh38 Chromosome 18, 31598637: 31598637
7 TTR NM_000371.3(TTR): c.112G> A (p.Asp38Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 31592938: 31592938
8 TTR NM_000371.3(TTR): c.112G> A (p.Asp38Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 29172901: 29172901
9 TTR NM_000371.3(TTR): c.34G> T (p.Ala12Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31591936: 31591936
10 TTR NM_000371.3(TTR): c.34G> T (p.Ala12Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29171899: 29171899
11 TTR NM_000371.3(TTR): c.263T> C (p.Ile88Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29175145: 29175145
12 TTR NM_000371.3(TTR): c.263T> C (p.Ile88Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31595182: 31595182
13 TTR NM_000371.3(TTR): c.242A> G (p.Glu81Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29175124: 29175124
14 TTR NM_000371.3(TTR): c.242A> G (p.Glu81Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31595161: 31595161
15 TTR NM_000371.3(TTR): c.165G> T (p.Lys55Asn) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 18, 29172954: 29172954
16 TTR NM_000371.3(TTR): c.165G> T (p.Lys55Asn) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 18, 31592991: 31592991
17 TTR NM_000371.3(TTR): c.116C> A (p.Ala39Asp) single nucleotide variant Uncertain significance rs11541795 GRCh37 Chromosome 18, 29172905: 29172905
18 TTR NM_000371.3(TTR): c.116C> A (p.Ala39Asp) single nucleotide variant Uncertain significance rs11541795 GRCh38 Chromosome 18, 31592942: 31592942
19 TTR NM_000371.3(TTR): c.212_217dup (p.Ser72_Gly73insGluSer) duplication Pathogenic GRCh37 Chromosome 18, 29175094: 29175099
20 TTR NM_000371.3(TTR): c.212_217dup (p.Ser72_Gly73insGluSer) duplication Pathogenic GRCh38 Chromosome 18, 31595131: 31595136
21 TTR NM_000371.3(TTR): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31592995: 31592995
22 TTR NM_000371.3(TTR): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29172958: 29172958
23 TTR NM_000371.3(TTR): c.141T> C (p.Asn47=) single nucleotide variant Likely benign GRCh38 Chromosome 18, 31592967: 31592967
24 TTR NM_000371.3(TTR): c.141T> C (p.Asn47=) single nucleotide variant Likely benign GRCh37 Chromosome 18, 29172930: 29172930
25 TTR NM_000371.3(TTR): c.206C> G (p.Thr69Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 31595125: 31595125
26 TTR NM_000371.3(TTR): c.206C> G (p.Thr69Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 29175088: 29175088
27 TTR NM_000371.3(TTR): c.174_176delTGA (p.Asp59del) deletion Uncertain significance GRCh38 Chromosome 18, 31593000: 31593002
28 TTR NM_000371.3(TTR): c.174_176delTGA (p.Asp59del) deletion Uncertain significance GRCh37 Chromosome 18, 29172963: 29172965
29 TTR NM_000371.3(TTR): c.336+8T> C single nucleotide variant Likely benign GRCh38 Chromosome 18, 31595263: 31595263
30 TTR NM_000371.3(TTR): c.336+8T> C single nucleotide variant Likely benign GRCh37 Chromosome 18, 29175226: 29175226
31 TTR NM_000371.3(TTR): c.375C> T (p.Tyr125=) single nucleotide variant Likely benign rs749079577 GRCh37 Chromosome 18, 29178569: 29178569
32 TTR NM_000371.3(TTR): c.375C> T (p.Tyr125=) single nucleotide variant Likely benign rs749079577 GRCh38 Chromosome 18, 31598606: 31598606
33 TTR NM_000371.3(TTR): c.*143G> C single nucleotide variant Uncertain significance rs545271394 GRCh37 Chromosome 18, 29178781: 29178781
34 TTR NM_000371.3(TTR): c.*143G> C single nucleotide variant Uncertain significance rs545271394 GRCh38 Chromosome 18, 31598818: 31598818
35 TTR NM_000371.3(TTR): c.-61G> A single nucleotide variant Uncertain significance rs770403822 GRCh37 Chromosome 18, 29171805: 29171805
36 TTR NM_000371.3(TTR): c.-61G> A single nucleotide variant Uncertain significance rs770403822 GRCh38 Chromosome 18, 31591842: 31591842
37 TTR NM_000371.3(TTR): c.*345G> A single nucleotide variant Uncertain significance rs58172837 GRCh38 Chromosome 18, 31599020: 31599020
38 TTR NM_000371.3(TTR): c.*345G> A single nucleotide variant Uncertain significance rs58172837 GRCh37 Chromosome 18, 29178983: 29178983
39 TTR NM_000371.3(TTR): c.*304C> T single nucleotide variant Uncertain significance rs541989755 GRCh38 Chromosome 18, 31598979: 31598979
40 TTR NM_000371.3(TTR): c.*304C> T single nucleotide variant Uncertain significance rs541989755 GRCh37 Chromosome 18, 29178942: 29178942
41 TTR NM_000371.3(TTR): c.*191C> T single nucleotide variant Uncertain significance rs556327750 GRCh37 Chromosome 18, 29178829: 29178829
42 TTR NM_000371.3(TTR): c.*191C> T single nucleotide variant Uncertain significance rs556327750 GRCh38 Chromosome 18, 31598866: 31598866
43 TTR NM_000371.3(TTR): c.11_13dupATC (p.His4_Arg5insHis) duplication Uncertain significance rs886053739 GRCh37 Chromosome 18, 29171876: 29171878
44 TTR NM_000371.3(TTR): c.11_13dupATC (p.His4_Arg5insHis) duplication Uncertain significance rs886053739 GRCh38 Chromosome 18, 31591913: 31591915
45 TTR NM_000371.3(TTR): c.*21C> A single nucleotide variant Uncertain significance rs12226 GRCh37 Chromosome 18, 29178659: 29178659
46 TTR NM_000371.3(TTR): c.*21C> A single nucleotide variant Uncertain significance rs12226 GRCh38 Chromosome 18, 31598696: 31598696
47 TTR NM_000371.3(TTR): c.432_437delTCCCAA (p.Asn144_Pro145del) deletion Uncertain significance rs886053745 GRCh37 Chromosome 18, 29178626: 29178631
48 TTR NM_000371.3(TTR): c.432_437delTCCCAA (p.Asn144_Pro145del) deletion Uncertain significance rs886053745 GRCh38 Chromosome 18, 31598663: 31598668
49 TTR NM_000371.3(TTR): c.122G> A (p.Arg41Gln) single nucleotide variant Uncertain significance rs879254269 GRCh37 Chromosome 18, 29172911: 29172911
50 TTR NM_000371.3(TTR): c.122G> A (p.Arg41Gln) single nucleotide variant Uncertain significance rs879254269 GRCh38 Chromosome 18, 31592948: 31592948

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 blood microparticle GO:0072562 9.16 APOA1 GSN
2 protein-containing complex GO:0032991 9.13 GSN STT3B TTR
3 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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