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 58 12 54 13 41 74
Transthyretin Amyloidosis 58 12 54 26 76 15
Familial Amyloid Polyneuropathy 12 77 54 76
Transthyretin Amyloid Polyneuropathy 54 60 76
Transthyretin Amyloid Neuropathy 54 60 76
Ttr Amyloid Neuropathy 54 60 76
Type I Familial Amyloid Polyneuropathy 26 56
Familial Amyloid Polyneuropathy Type I 60 76
Familial Transthyretin Amyloidosis 12 54
Fap 58 76
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type 60
Transthyretin-Related Familial Amyloid Cardiomyopathy 60
Hereditary Oculoleptomeningeal Amyloid Angiopathy 74
Hereditary Amyloidosis, Transthyretin-Related 58
Transthyretin-Related Hereditary Amyloidosis 12
Hereditary Amyloidosis Transthyretin-Related 76
Familial Amyloid Neuropathy, Portuguese Type 74
Portuguese Type Familial Amyloid Neuropathy 26
Danish Type Familial Amyloid Cardiomyopathy 74
Type Ii Familial Amyloid Polyneuropathy 26
Familial Amyloid Polyneuropathy Type Ii 76
Amyloid Polyneuropathy, Familial; Fap 58
Portuguese Polyneuritic Amyloidosis 26
Ttr-Related Amyloid Cardiomyopathy 60
Amyloidosis, Transthyretin-Related 76
Meningocerebrovascular Amyloidosis 76
Amyloid Polyneuropathy, Swiss Type 74
Amyloidosis Transthyretin Related 54
Swiss Type Amyloid Polyneuropathy 26
Transthyretin Amyloid Cardiopathy 60
Familial Amyloid Polyneuropathies 56
Amyloid Polyneuropathy, Familial 58
Ttr-Related Cardiac Amyloidosis 60
Oculoleptomeningeal Amyloidosis 76
Amyloid Neuropathies, Familial 74
Attrv122i-Related Amyloidosis 60
Attrv30m-Related Amyloidosis 60
Corino De Andrade's Disease 12
Hereditary Attr Amyloidosis 54
Amyloidosis, Leptomeningeal 56
Leptomeningeal Amyloidosis 76
Senile Cardiac Amyloidosis 74
Amyloid Polyneuropathy 76
Attrv122i Amyloidosis 60
Amyloidosis Ohio Type 76
Attrv30m Amyloidosis 60
Amyloid Neuropathies 74
Attr Cardiomyopathy 60
Amyloidosis Type 7 76
Ttr Amyloidosis 12
Amyloidosis Vii 76
Amyloidosis I 76
Amyl-Ttr 76
Attr 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
amyloidosis, hereditary, transthyretin-related:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyloidosis, Hereditary, Transthyretin-Related

OMIM : 58 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 Fluorides and Diflunisal have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are nephropathy and polyneuropathy

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 : 26 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 : 54 Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body's organs and tissues. Symptoms start in adulthood and get worse over time. Signs and symptoms depend on where the amyloid protein is building up. Amyloid build-up in the nerves of the peripheral nervous system causes a loss of sensation in the lower limbs, feet, and hands (peripheral neuropathy). Amyloid build-up can also affect the involuntary body functions, such as blood pressure, heart rate, and digestion. Other areas of the body that may be affected are the heart, kidneys, eyes, and gastrointestinal tract. FTA is caused by changes (mutations) in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR gene mutation will develop FTA. Diagnosis of FTA is suspected by signs and symptoms and confirmed by tissue biopsy and genetic testing. Primary treatment is a liver transplantation. This procedure removes the main source of amyloid from the body, but amyloid may still build-up in the heart, brain, and eyes. New medications have become available that block the formation of amyloid and may provide an alternative to liver transplant. Other treatments include heart and/or kidney transplantation, putting in a pacemaker, replacing the fluid in the eye (vitrectomy), and various medications. FTA is typically a fatal condition, but life expectancy depends on many factors. 

UniProtKB/Swiss-Prot : 76 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 : 77 Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin... more...

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 162)
# Related Disease Score Top Affiliating Genes
1 amyloidosis 31.5 APOA1 TTR GSN
2 polyneuropathy 30.4 TTR GSN APOA1
3 hereditary amyloidosis 30.2 TTR GSN APOA1
4 cerebral amyloid angiopathy, cst3-related 30.1 TTR GSN
5 amyloidosis, finnish type 29.9 TTR GSN
6 pure autonomic failure 29.9 TTR DBH
7 hereditary transthyretin amyloidosis 12.6
8 wild type attr amyloidosis 12.3
9 familial adenomatous polyposis 12.2
10 familial adenomatous polyposis 1 12.1
11 attenuated familial adenomatous polyposis 12.1
12 mismatch repair cancer syndrome 11.8
13 familial adenomatous polyposis 2 11.7
14 lattice corneal dystrophy 11.6
15 lattice corneal dystrophy type ii 11.6
16 mutyh-associated polyposis 11.5
17 breast ductal carcinoma 11.4
18 desmoid disease, hereditary 11.4
19 glioma 11.4
20 gastric cancer 11.4
21 desmoid tumor 11.3
22 familial amyloidosis, finnish type 11.3
23 hemophagocytic lymphohistiocytosis, familial, 5 11.3
24 infiltrative basal cell carcinoma 11.3
25 medulloblastoma 11.2
26 familial adenomatous polyposis 3 11.1
27 familial adenomatous polyposis 4 11.1
28 familial adenomatous polyposis due to 5q22.2 microdeletion 11.1
29 axin2-related attenuated familial adenomatous polyposis 11.1
30 pouchitis 11.0
31 breast cancer 10.6
32 neuropathy 10.4
33 colorectal cancer 10.3
34 carpal tunnel syndrome 10.3
35 rere-related disorders 10.3
36 mononeuropathy of the median nerve, mild 10.3
37 atrial standstill 1 10.2
38 thyroid cancer 10.2
39 hypertrophic cardiomyopathy 10.2
40 thyroid cancer, nonmedullary, 1 10.1
41 adenoma 10.1
42 pancreatic ductal adenocarcinoma 10.1
43 chronic interstitial cystitis 10.1
44 polycystic kidney disease 10.1
45 corneal dystrophy 10.1
46 fabry disease 10.1
47 blepharochalasis 10.1 TTR GSN
48 aging 10.1
49 muscle hypertrophy 10.1
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 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

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

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112
2 polyneuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001271
3 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
4 cardiomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001640
5 atrioventricular block 60 33 frequent (33%) Frequent (79-30%) HP:0001678
6 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
7 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
8 cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001638
9 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
10 impotence 60 33 frequent (33%) Frequent (79-30%) HP:0000802
11 vitreous floaters 60 33 frequent (33%) Frequent (79-30%) HP:0100832
12 constrictive median neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0012185
13 abnormal autonomic nervous system physiology 33 frequent (33%) HP:0012332
14 nystagmus 33 HP:0000639
15 seizures 33 HP:0001250
16 ataxia 33 HP:0001251
17 spasticity 33 HP:0001257
18 dysarthria 33 HP:0001260
19 muscle weakness 33 HP:0001324
20 tremor 33 HP:0001337
21 dysautonomia 60 Frequent (79-30%)
22 hearing impairment 33 HP:0000365
23 visual impairment 33 HP:0000505
24 abnormal renal physiology 60 Frequent (79-30%)
25 stroke-like episode 33 HP:0002401
26 dementia 33 HP:0000726
27 headache 33 HP:0002315
28 hyporeflexia 33 HP:0001265
29 urinary incontinence 33 HP:0000020
30 peripheral axonal neuropathy 33 HP:0003477
31 orthostatic hypotension due to autonomic dysfunction 33 HP:0004926
32 hemiparesis 33 HP:0001269
33 increased csf protein 33 HP:0002922
34 amyloidosis 33 HP:0011034
35 abnormal test result 60 Very frequent (99-80%)
36 paraplegia 33 HP:0010550
37 amyloid deposition in the vitreous humor 33 HP:0007841

Symptoms via clinical synopsis from OMIM:

58
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

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


seizures, ataxia, tremor, constipation, headache, diarrhea, 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 top 50) (show all 69)
# 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
Doxycycline Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 564-25-0 54671203
4
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2 1177-87-3
6
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
7 Daratumumab Approved Phase 3 945721-28-8
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Taurochenodeoxycholic acid Experimental Phase 3,Phase 2,Phase 1 516-35-8 387316
10
Tauroursodeoxycholic acid Experimental, Investigational Phase 3,Phase 2,Phase 1 14605-22-2 12443252
11 Pharmaceutical Solutions Phase 2, Phase 3
12 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
13 Analgesics Phase 2, Phase 3
14 Cyclooxygenase Inhibitors Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 3
16 Analgesics, Non-Narcotic Phase 2, Phase 3
17 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 3
18 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 3
19 Liver Extracts Phase 3
20 Gastrointestinal Agents Phase 3,Phase 2,Phase 1
21 Antiparasitic Agents Phase 3,Phase 2,Phase 1
22 Antiprotozoal Agents Phase 3,Phase 2,Phase 1
23 Anti-Infective Agents Phase 3,Phase 2,Phase 1
24 Cholagogues and Choleretics Phase 3,Phase 2,Phase 1
25 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
26 Antimalarials Phase 3,Phase 2,Phase 1
27 Antiviral Agents Phase 3,Phase 2,Phase 1
28 Immunosuppressive Agents Phase 3,Phase 2
29 Antineoplastic Agents, Alkylating Phase 3
30 Immunologic Factors Phase 3,Phase 2
31 Alkylating Agents Phase 3
32 Antibodies Phase 3,Phase 2
33 Immunoglobulins Phase 3,Phase 2
34 Autonomic Agents Phase 3,Phase 2
35 Hormones Phase 3,Phase 2
36 Antibodies, Monoclonal Phase 3
37 Antineoplastic Agents, Hormonal Phase 3,Phase 2
38 Hormone Antagonists Phase 3,Phase 2
39 Antiemetics Phase 3,Phase 2
40
protease inhibitors Phase 3,Phase 2
41 HIV Protease Inhibitors Phase 3,Phase 2
42 glucocorticoids Phase 3,Phase 2
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
44 BB 1101 Phase 3,Phase 2
45
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
46
Lenalidomide Approved Phase 2 191732-72-6 216326
47 Catechol Phase 1, Phase 2,Early Phase 1
48 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2,Early Phase 1
49 Antiparkinson Agents Phase 1, Phase 2,Early Phase 1
50 Angiogenesis Modulating Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 76)
# 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 HELIOS-A: A Study of Vutrisiran (ALN-TTRSC02) in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
5 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
6 Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
7 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3 tafamidis
8 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
9 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
10 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
11 Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin Amyloidosis Active, not recruiting NCT00925002 Phase 3 Tafamidis
12 Patisiran in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Disease Progression Post-Liver Transplant Recruiting NCT03862807 Phase 3 Patisiran
13 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)
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 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)
16 Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy Recruiting NCT03860935 Phase 3 AG10;Placebo Oral Tablet
17 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)
18 A Study of Doxycycline and Tauroursodeoxycholic Acid (Doxy/TUDCA) Plus Standard Supportive Therapy Versus Standard Supportive Therapy Alone in Cardiac Amyloidosis Caused by Transthyretin Recruiting NCT03481972 Phase 3 Doxycycline and tauroursodeoxycholic acid;Standard of care
19 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
20 Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy Completed NCT01994889 Phase 3 Tafamidis;Tafamidis;Placebo
21 Long-term Safety of Tafamidis in Subjects With Transthyretin Cardiomyopathy Recruiting NCT02791230 Phase 3 Tafamidis
22 A Study to Evaluate the Efficacy and Safety of Daratumumab in Combination With Cyclophosphamide, Bortezomib and Dexamethasone (CyBorD) Compared to CyBorD Alone in Newly Diagnosed Systemic Amyloid Light-chain (AL) Amyloidosis Recruiting NCT03201965 Phase 3 Cyclophosphamide;Bortezomib;Dexamethasone, 40 mg;Daratumumab
23 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
24 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
25 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
26 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
27 24 Month Open Label Study of the Tolerability and Efficacy of Inotersen in TTR Amyloid Cardiomyopathy Patients Not yet recruiting NCT03702829 Phase 2 Inotersen
28 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
29 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
30 Thalidomide/Dexamethasone Treatment And PET Evaluation In Organ Involvemenet of Cardiac Amyloidosis Recruiting NCT02966522 Phase 2 Thalidomide;Dexamethasone
31 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
32 A Extension Study to Evaluate Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Cardiac Amyloidosis Completed NCT02292186 Phase 2 Revusiran (ALN-TTRSC)
33 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
34 Study of AG10 in Amyloid Cardiomyopathy Completed NCT03458130 Phase 2 AG10;Placebo Oral Tablet
35 Multiple Treatment Session Study to Assess GSK2398852 Administered Following and Along With GSK2315698 Terminated NCT03044353 Phase 2 GSK2315698 (CPHPC)
36 Open-Label Study of AG10 in Patients With Cardiomyopathy Enrolling by invitation NCT03536767 Phase 2 AG10
37 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
38 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)
39 Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10 Completed NCT03294707 Phase 1 AG10 oral tablet;Placebo Oral Tablet
40 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Unknown status NCT03098901 Not Applicable
41 The Role of Occult Cardiac Amyloid in the Elderly With Aortic Stenosis. Unknown status NCT03029026
42 Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology Recruiting NCT03842163
43 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577 Not Applicable
44 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
45 Mitochondrial Function in Transthyretin Amyloidosis Recruiting NCT03328338
46 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
47 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
48 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
49 ATTR Expanded Access Program (EAP) by Ionis Approved for marketing NCT03400098 Inotersen
50 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Approved for marketing NCT02939820 patisiran (ALN-TTR02)

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:

42
Liver, Heart, Kidney, Brain, Eye, Testes, Spinal Cord

Publications for Amyloidosis, Hereditary, Transthyretin-Related

Articles related to Amyloidosis, Hereditary, Transthyretin-Related:

(show top 50) (show all 360)
# Title Authors Year
1
Length-dependent truncal Aδ-fiber dysfunction in hereditary transthyretin amyloidosis: An intra-epidermal electrical stimulation study. ( 30981175 )
2019
2
Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis. ( 31001136 )
2019
3
Transthyretin amyloidosis in Western Europe: a snapshot from the THAOS registry and a call for further perspectives. ( 31006018 )
2019
4
Prevalence of Positive 99 mTc-DPD Scintigraphy as an Indicator of the Prevalence of Wild-type Transthyretin Amyloidosis in the Elderly. ( 31019172 )
2019
5
Conjunctival lymphangiectasia: a novel ocular manifestation of hereditary transthyretin amyloidosis. ( 31074309 )
2019
6
Burden of Hereditary Transthyretin Amyloidosis on Quality of Life. ( 31093980 )
2019
7
Tafamidis: A Review in Transthyretin Amyloidosis with Polyneuropathy. ( 31098895 )
2019
8
Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis. ( 31109193 )
2019
9
Treatment of cardiac transthyretin amyloidosis: an update. ( 31111153 )
2019
10
Transthyretin Amyloidosis Mimicking Obstructive Hypertrophic Cardiomyopathy: A Great Imitator. ( 30685204 )
2019
11
6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). ( 30718023 )
2019
12
Ultrastructure in Transthyretin Amyloidosis: From Pathophysiology to Therapeutic Insights. ( 30764529 )
2019
13
Tafamidis for the treatment of transthyretin amyloidosis. ( 30767672 )
2019
14
Advances in the diagnosis and treatment of transthyretin amyloidosis with cardiac involvement. ( 30790171 )
2019
15
Gastric peroral endoscopic myotomy for transthyretin amyloidosis gastroparesis. ( 30791050 )
2019
16
Solar Eruption in Hereditary Transthyretin Amyloidosis. ( 30803513 )
2019
17
Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS). ( 30810593 )
2019
18
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families. ( 30811423 )
2019
19
Non-invasive cardiac imaging methods in transthyretin amyloidosis. ( 30816988 )
2019
20
Spinal Stenosis in Familial Transthyretin Amyloidosis. ( 30856118 )
2019
21
Quadriceps tendon rupture in wild-type transthyretin amyloidosis (ATTRwt). ( 30863854 )
2019
22
Uncovering the Neuroprotective Mechanisms of Curcumin on Transthyretin Amyloidosis. ( 30875761 )
2019
23
Association of Patisiran, an RNA Interference Therapeutic, With Regional Left Ventricular Myocardial Strain in Hereditary Transthyretin Amyloidosis: The APOLLO Study. ( 30878017 )
2019
24
Treatment of hereditary and acquired forms of transthyretin amyloidosis in the era of personalized medicine: the role of randomized controlled trials. ( 30907141 )
2019
25
Therapeutic Potential of Polyamidoamine Dendrimer for Amyloidogenic Transthyretin Amyloidosis. ( 30912637 )
2019
26
Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS). ( 30938420 )
2019
27
Atypical presentation of transthyretin amyloidosis in a non-endemic area. ( 30390992 )
2019
28
State-of-the-art radionuclide imaging in cardiac transthyretin amyloidosis. ( 30569412 )
2019
29
The Effectiveness and Value of Patisiran and Inotersen for Hereditary Transthyretin Amyloidosis. ( 30589627 )
2019
30
Non-Val30Met mutation, septal hypertrophy, and cardiac denervation in patients with mutant transthyretin amyloidosis. ( 30284755 )
2019
31
Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas. ( 30350904 )
2019
32
Native T1 and Extracellular Volume in Transthyretin Amyloidosis. ( 29550324 )
2019
33
Cardiac Involvement in a Patient Cohort With Val30Met Mutation Transthyretin Amyloidosis. ( 29223374 )
2019
34
Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy. ( 30365618 )
2018
35
Teaching NeuroImages: Morphology of lumbosacral dorsal root ganglia and plexus in hereditary transthyretin amyloidosis. ( 30397049 )
2018
36
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 30462941 )
2018
37
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 30484623 )
2018
38
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 30484624 )
2018
39
Recent Advances in Oligonucleotide-Based Therapy for Transthyretin Amyloidosis: Clinical Impact and Future Prospects. ( 30504675 )
2018
40
Inotersen (transthyretin-specific antisense oligonucleotide) for treatment of transthyretin amyloidosis. ( 30561247 )
2018
41
Enthalpy-Driven Stabilization of Transthyretin by AG10 Mimics a Naturally Occurring Genetic Variant That Protects from Transthyretin Amyloidosis. ( 30133284 )
2018
42
FDA approves patisiran to treat hereditary transthyretin amyloidosis. ( 30158559 )
2018
43
Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial. ( 30169969 )
2018
44
Right ventricular involvement in transthyretin amyloidosis. ( 30193533 )
2018
45
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis. ( 30198232 )
2018
46
Kind and distribution of cutaneous sensation loss in hereditary transthyretin amyloidosis with polyneuropathy. ( 30219500 )
2018
47
The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: An ultrastructural study. ( 30243104 )
2018
48
Hepatocyte-like cells reveal novel role of SERPINA1 in transthyretin amyloidosis. ( 30333144 )
2018
49
Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis. ( 29855203 )
2018
50
Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation). ( 29859145 )
2018

Variations for Amyloidosis, Hereditary, Transthyretin-Related

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

76 (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.70-7C> T single nucleotide variant Benign/Likely benign rs587780990 GRCh38 Chromosome 18, 31592889: 31592889
2 TTR NM_000371.3(TTR): c.70-7C> T single nucleotide variant Benign/Likely benign rs587780990 GRCh37 Chromosome 18, 29172852: 29172852
3 TTR NM_000371.3(TTR): c.337-3T> C single nucleotide variant Uncertain significance rs774027595 GRCh38 Chromosome 18, 31598565: 31598565
4 TTR NM_000371.3(TTR): c.337-3T> C single nucleotide variant Uncertain significance rs774027595 GRCh37 Chromosome 18, 29178528: 29178528
5 TTR NM_000371.3(TTR): c.212_217dup (p.Ser72_Gly73insGluSer) duplication Pathogenic rs1555631390 GRCh38 Chromosome 18, 31595131: 31595136
6 TTR NM_000371.3(TTR): c.212_217dup (p.Ser72_Gly73insGluSer) duplication Pathogenic rs1555631390 GRCh37 Chromosome 18, 29175094: 29175099
7 TTR NM_000371.3(TTR): c.200+2T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29172991: 29172991
8 TTR NM_000371.3(TTR): c.200+2T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31593028: 31593028
9 TTR NM_000371.3(TTR): c.239C> T (p.Thr80Ile) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 18, 29175121: 29175121
10 TTR NM_000371.3(TTR): c.239C> T (p.Thr80Ile) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 18, 31595158: 31595158
11 TTR NM_000371.3(TTR): c.406T> C (p.Tyr136His) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29178600: 29178600
12 TTR NM_000371.3(TTR): c.406T> C (p.Tyr136His) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31598637: 31598637
13 TTR NM_000371.3(TTR): c.112G> A (p.Asp38Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 31592938: 31592938
14 TTR NM_000371.3(TTR): c.112G> A (p.Asp38Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 29172901: 29172901
15 TTR NM_000371.3(TTR): c.34G> T (p.Ala12Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31591936: 31591936
16 TTR NM_000371.3(TTR): c.34G> T (p.Ala12Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29171899: 29171899
17 TTR NM_000371.3(TTR): c.263T> C (p.Ile88Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29175145: 29175145
18 TTR NM_000371.3(TTR): c.263T> C (p.Ile88Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31595182: 31595182
19 TTR NM_000371.3(TTR): c.242A> G (p.Glu81Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29175124: 29175124
20 TTR NM_000371.3(TTR): c.242A> G (p.Glu81Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31595161: 31595161
21 TTR NM_000371.3(TTR): c.165G> T (p.Lys55Asn) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 18, 29172954: 29172954
22 TTR NM_000371.3(TTR): c.165G> T (p.Lys55Asn) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 18, 31592991: 31592991
23 TTR NM_000371.3(TTR): c.116C> A (p.Ala39Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 29172905: 29172905
24 TTR NM_000371.3(TTR): c.116C> A (p.Ala39Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 31592942: 31592942
25 TTR NM_000371.3(TTR): c.336+8T> C single nucleotide variant Likely benign rs1176464590 GRCh38 Chromosome 18, 31595263: 31595263
26 TTR NM_000371.3(TTR): c.336+8T> C single nucleotide variant Likely benign rs1176464590 GRCh37 Chromosome 18, 29175226: 29175226
27 TTR NM_000371.3(TTR): c.375C> T (p.Tyr125=) single nucleotide variant Likely benign rs749079577 GRCh37 Chromosome 18, 29178569: 29178569
28 TTR NM_000371.3(TTR): c.375C> T (p.Tyr125=) single nucleotide variant Likely benign rs749079577 GRCh38 Chromosome 18, 31598606: 31598606
29 TTR NM_000371.3(TTR): c.*143G> C single nucleotide variant Uncertain significance rs545271394 GRCh37 Chromosome 18, 29178781: 29178781
30 TTR NM_000371.3(TTR): c.*143G> C single nucleotide variant Uncertain significance rs545271394 GRCh38 Chromosome 18, 31598818: 31598818
31 TTR NM_000371.3(TTR): c.-61G> A single nucleotide variant Uncertain significance rs770403822 GRCh37 Chromosome 18, 29171805: 29171805
32 TTR NM_000371.3(TTR): c.-61G> A single nucleotide variant Uncertain significance rs770403822 GRCh38 Chromosome 18, 31591842: 31591842
33 TTR NM_000371.3(TTR): c.*345G> A single nucleotide variant Uncertain significance rs58172837 GRCh38 Chromosome 18, 31599020: 31599020
34 TTR NM_000371.3(TTR): c.*345G> A single nucleotide variant Uncertain significance rs58172837 GRCh37 Chromosome 18, 29178983: 29178983
35 TTR NM_000371.3(TTR): c.*304C> T single nucleotide variant Uncertain significance rs541989755 GRCh38 Chromosome 18, 31598979: 31598979
36 TTR NM_000371.3(TTR): c.*304C> T single nucleotide variant Uncertain significance rs541989755 GRCh37 Chromosome 18, 29178942: 29178942
37 TTR NM_000371.3(TTR): c.*191C> T single nucleotide variant Uncertain significance rs556327750 GRCh37 Chromosome 18, 29178829: 29178829
38 TTR NM_000371.3(TTR): c.*191C> T single nucleotide variant Uncertain significance rs556327750 GRCh38 Chromosome 18, 31598866: 31598866
39 TTR NM_000371.3(TTR): c.11_13dupATC (p.His4_Arg5insHis) duplication Uncertain significance rs747545126 GRCh37 Chromosome 18, 29171876: 29171878
40 TTR NM_000371.3(TTR): c.11_13dupATC (p.His4_Arg5insHis) duplication Uncertain significance rs747545126 GRCh38 Chromosome 18, 31591913: 31591915
41 TTR NM_000371.3(TTR): c.*21C> A single nucleotide variant Conflicting interpretations of pathogenicity rs12226 GRCh37 Chromosome 18, 29178659: 29178659
42 TTR NM_000371.3(TTR): c.*21C> A single nucleotide variant Conflicting interpretations of pathogenicity rs12226 GRCh38 Chromosome 18, 31598696: 31598696
43 TTR NM_000371.3(TTR): c.432_437delTCCCAA (p.Asn144_Pro145del) deletion Uncertain significance rs886053745 GRCh37 Chromosome 18, 29178626: 29178631
44 TTR NM_000371.3(TTR): c.432_437delTCCCAA (p.Asn144_Pro145del) deletion Uncertain significance rs886053745 GRCh38 Chromosome 18, 31598663: 31598668
45 TTR NM_000371.3(TTR): c.122G> A (p.Arg41Gln) single nucleotide variant Uncertain significance rs879254269 GRCh37 Chromosome 18, 29172911: 29172911
46 TTR NM_000371.3(TTR): c.122G> A (p.Arg41Gln) single nucleotide variant Uncertain significance rs879254269 GRCh38 Chromosome 18, 31592948: 31592948
47 TTR NM_000371.3(TTR): c.25C> T (p.Leu9Phe) single nucleotide variant Uncertain significance rs762243340 GRCh38 Chromosome 18, 31591927: 31591927
48 TTR NM_000371.3(TTR): c.25C> T (p.Leu9Phe) single nucleotide variant Uncertain significance rs762243340 GRCh37 Chromosome 18, 29171890: 29171890
49 TTR NM_000371.3(TTR): c.384C> T (p.Ala128=) single nucleotide variant Conflicting interpretations of pathogenicity rs143906738 GRCh38 Chromosome 18, 31598615: 31598615
50 TTR NM_000371.3(TTR): c.384C> T (p.Ala128=) single nucleotide variant Conflicting interpretations of pathogenicity rs143906738 GRCh37 Chromosome 18, 29178578: 29178578

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 retinoid metabolic process GO:0001523 8.96 APOA1 TTR
2 cellular protein metabolic process GO:0044267 8.8 APOA1 GSN TTR

Sources for Amyloidosis, Hereditary, Transthyretin-Related

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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46 MESH via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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