AMYL-TTR
MCID: AMY087
MIFTS: 66

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

Categories: Bone diseases, Genetic diseases, Metabolic 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 56 12 52 13 39 71
Transthyretin Amyloidosis 56 12 52 25 73 15
Familial Amyloid Polyneuropathy 12 74 52 73
Transthyretin Amyloid Polyneuropathy 52 58 73
Transthyretin Amyloid Neuropathy 52 58 73
Ttr Amyloid Neuropathy 52 58 73
Type I Familial Amyloid Polyneuropathy 25 54
Familial Amyloid Polyneuropathy Type I 58 73
Familial Transthyretin Amyloidosis 12 52
Hereditary Attr Amyloidosis 52 58
Attrv122i Amyloidosis 58 6
Fap 56 73
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type 58
Transthyretin-Related Familial Amyloid Cardiomyopathy 58
Hereditary Oculoleptomeningeal Amyloid Angiopathy 71
Hereditary Amyloidosis, Transthyretin-Related 56
Transthyretin-Related Hereditary Amyloidosis 12
Hereditary Amyloidosis Transthyretin-Related 73
Familial Amyloid Neuropathy, Portuguese Type 71
Portuguese Type Familial Amyloid Neuropathy 25
Danish Type Familial Amyloid Cardiomyopathy 71
Familial Transthyretin-Related Amyloidosis 58
Type Ii Familial Amyloid Polyneuropathy 25
Familial Amyloid Polyneuropathy Type Ii 73
Amyloid Polyneuropathy, Familial; Fap 56
Portuguese Polyneuritic Amyloidosis 25
Ttr-Related Amyloid Cardiomyopathy 58
Amyloidosis, Transthyretin-Related 73
Meningocerebrovascular Amyloidosis 73
Amyloid Polyneuropathy, Swiss Type 71
Amyloidosis Transthyretin Related 52
Swiss Type Amyloid Polyneuropathy 25
Transthyretin Amyloid Cardiopathy 58
Familial Amyloid Polyneuropathies 54
Amyloid Polyneuropathy, Familial 56
Familial Ttr-Related Amyloidosis 58
Ttr-Related Cardiac Amyloidosis 58
Oculoleptomeningeal Amyloidosis 73
Amyloid Neuropathies, Familial 71
Attrv122i-Related Amyloidosis 58
Attrv30m-Related Amyloidosis 58
Corino De Andrade's Disease 12
Amyloidosis, Leptomeningeal 54
Leptomeningeal Amyloidosis 73
Senile Cardiac Amyloidosis 71
Amyloid Polyneuropathy 73
Amyloidosis Ohio Type 73
Attrv30m Amyloidosis 58
Amyloid Neuropathies 71
Attr Cardiomyopathy 58
Amyloidosis Type 7 73
Ttr Amyloidosis 12
Amyloidosis Vii 73
Paramyloidosis 12
Amyloidosis I 73
Amyl-Ttr 73
Attr 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


Summaries for Amyloidosis, Hereditary, Transthyretin-Related

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. There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments in bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or "scalloped" appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of protein in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those in the neuropathic form may also occur. When people with leptomeningeal transthyretin amyloidosis have associated eye problems, they are said to have the oculoleptomeningeal form. The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.

MalaCards based summary : Amyloidosis, Hereditary, Transthyretin-Related, also known as transthyretin amyloidosis, is related to hereditary amyloidosis and plasma cell neoplasm, 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 Metabolism of proteins and Neuroscience. The drugs Immunoglobulins, Intravenous and Immunologic Factors 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin... more...

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

Diseases in the Hereditary Transthyretin Amyloidosis family:

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 448)
# Related Disease Score Top Affiliating Genes
1 hereditary amyloidosis 32.6 TTR GSN B2M APOA2 APOA1
2 plasma cell neoplasm 30.7 TTR B2M ALB
3 diabetes mellitus, noninsulin-dependent 30.4 TTR SOD1 SNCA IAPP APP APOA2
4 amyloidosis aa 30.3 TTR B2M APOA1
5 amyloidosis, finnish type 30.3 TTR GSN APCS
6 pericardial effusion 30.2 TTR NPPB ALB
7 polyneuropathy 30.2 TTR SERPINA7 GSN B2M APOA2 APOA1
8 peripheral nervous system disease 30.1 TTR SOD1 SNCA B2M APP ALB
9 communicating hydrocephalus 30.1 SNCA APP ALB
10 leukoencephalopathy, hereditary diffuse, with spheroids 30.1 SNCA PRNP APP
11 uremia 30.1 B2M APOA1 ALB
12 intracranial embolism 30.0 TTR ALB
13 meningoencephalitis 30.0 B2M APP ALB
14 cerebral amyloid angiopathy, cst3-related 30.0 TTR SNCA PRNP GSN APP
15 aphasia 30.0 SNCA PRNP APP
16 kidney disease 29.9 TTR NPPB B2M APOA1 ALB
17 autosomal dominant cerebellar ataxia 29.7 SOD1 SNCA HTT APP
18 huntington disease 29.6 SOD1 SNCA PRNP HTT APP
19 amyloidosis 29.5 TTR SNCA PRNP NPPB IAPP GSN
20 respiratory failure 29.1 TTR SOD1 SERPINA7 NPPB ALB
21 dementia 29.1 TTR SOD1 SNCA PRNP HTT APP
22 diabetes mellitus 29.1 TTR SOD1 NPPB IAPP B2M APOA1
23 myopathy 29.0 TTR SOD1 SNCA PRNP MT-TR APP
24 prion disease 29.0 SOD1 SNCA PRNP IAPP HTT APP
25 amyloidosis, familial visceral 28.9 TTR SNCA IAPP GSN B2M APOA2
26 hereditary transthyretin amyloidosis 12.7
27 familial adenomatous polyposis 12.4
28 familial adenomatous polyposis 1 12.2
29 attenuated familial adenomatous polyposis 12.2
30 familial adenomatous polyposis 2 12.0
31 mismatch repair cancer syndrome 11.9
32 desmoid tumor 11.9
33 ovarian cancer 11.8
34 lattice corneal dystrophy 11.8
35 glioma 11.8
36 lattice corneal dystrophy type ii 11.8
37 medulloblastoma 11.6
38 myh-associated polyposis 11.6
39 melanoma 11.6
40 colorectal cancer 11.5
41 familial adenomatous polyposis 3 11.5
42 familial adenomatous polyposis 4 11.5
43 gastric cancer 11.5
44 pouchitis 11.5
45 breast ductal carcinoma 11.5
46 infiltrative basal cell carcinoma 11.2
47 familial adenomatous polyposis due to 5q22.2 microdeletion 11.2
48 axin2-related attenuated familial adenomatous polyposis 11.2
49 desmoid disease, hereditary 11.2
50 adenoma 10.7

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:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
2 polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001271
3 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
4 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
5 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
6 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
7 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
8 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
9 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
10 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
11 constrictive median neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0012185
12 vitreous floaters 58 31 frequent (33%) Frequent (79-30%) HP:0100832
13 abnormal autonomic nervous system physiology 31 frequent (33%) HP:0012332
14 hearing impairment 31 HP:0000365
15 visual impairment 31 HP:0000505
16 muscle weakness 31 HP:0001324
17 spasticity 31 HP:0001257
18 ataxia 31 HP:0001251
19 nystagmus 31 HP:0000639
20 tremor 31 HP:0001337
21 dysarthria 31 HP:0001260
22 hyporeflexia 31 HP:0001265
23 headache 31 HP:0002315
24 hemiparesis 31 HP:0001269
25 dementia 31 HP:0000726
26 paraplegia 31 HP:0010550
27 dysautonomia 58 Frequent (79-30%)
28 orthostatic hypotension due to autonomic dysfunction 31 HP:0004926
29 urinary incontinence 31 HP:0000020
30 peripheral axonal neuropathy 31 HP:0003477
31 amyloidosis 31 HP:0011034
32 abnormal renal physiology 58 Frequent (79-30%)
33 abnormal test result 58 Very frequent (99-80%)
34 increased csf protein 31 HP:0002922
35 stroke-like episode 31 HP:0002401
36 seizure 31 HP:0001250
37 amyloid deposition in the vitreous humor 31 HP:0007841
38 leptomeningeal enhancement 31 HP:0032070

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
nystagmus
tremor
more
Cardiovascular Heart:
cardiomegaly
cardiomyopathy
conduction block

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

Genitourinary External Genitalia Male:
erectile dysfunction

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

Abdomen Gastrointestinal:
constipation
diarrhea
gastrointestinal dysautonomia

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

MGI Mouse Phenotypes related to Amyloidosis, Hereditary, Transthyretin-Related:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ALB APOA1 APP B2M CRIM1 GSN
2 cellular MP:0005384 10.06 ALB APOA1 APP B2M CRIM1 GSN
3 homeostasis/metabolism MP:0005376 10 ALB APCS APOA1 APOA2 APP B2M
4 endocrine/exocrine gland MP:0005379 9.91 ALB APOA1 B2M CRIM1 GSN HTT
5 immune system MP:0005387 9.73 ALB APCS APP B2M CRIM1 GSN
6 integument MP:0010771 9.28 APOA1 APP B2M CRIM1 GSN HTT

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 4
2 Immunologic Factors Phase 4
3
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
4
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
5 Analgesics Phase 2, Phase 3
6 Analgesics, Non-Narcotic Phase 2, Phase 3
7 Anti-Inflammatory Agents Phase 2, Phase 3
8 Cyclooxygenase Inhibitors Phase 2, Phase 3
9 Antirheumatic Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
11 Gastrointestinal Agents Phase 3
12 Anti-Infective Agents Phase 3
13 Antiprotozoal Agents Phase 3
14 Antiparasitic Agents Phase 3
15 Anti-Bacterial Agents Phase 3
16 Antiviral Agents Phase 3
17 Antimalarials Phase 3
18
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
22
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
23 Catechol Phase 1, Phase 2
24 Liver Extracts Phase 2
25 Antibodies Phase 2
26 Immunoglobulins Phase 2
27 Antibodies, Monoclonal Phase 2
28 Immune Sera Phase 2
29 Pharmaceutical Solutions Phase 1
30
Levodopa Approved Early Phase 1 59-92-7 6047
31
Carbidopa Approved Early Phase 1 28860-95-9 34359
32
Diflunisal Approved, Investigational 22494-42-4 3059
33
Curcumin Approved, Experimental, Investigational 458-37-7 969516
34
Formaldehyde Approved, Vet_approved 50-00-0 712
35
Valine Approved, Nutraceutical 72-18-4 6287
36
Threonine Approved, Nutraceutical 72-19-5 6288
37 Tea
38 Technetium Tc 99m 1,1-diphosphonopropane-2,3-dicarboxylic acid
39 Radiopharmaceuticals
40 Anesthetics
41
L-Alanine Nutraceutical 56-41-7 5950
42
Isoleucine Investigational, Nutraceutical 443-79-8, 73-32-5 6306

Interventional clinical trials:

(show top 50) (show all 91)
# 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 A Phase 4 Safety Study Assessing the Adverse Events Occurring Within One Day of TEGSEDI Administration in Patients With Polyneuropathy of Hereditary Transthyretin-mediated Amyloidosis (hATTR-PN) Not yet recruiting NCT04306510 Phase 4
3 The Effect On Transthyretin Stabilization, Safety, Tolerablity, Efficacy And Pharmacokinetics Of Orally Administered Tafamidis In Transthyretin Amyloid Polyneuropathy Patients With V30m Or Non-v30m Transthyretin: A Phase Iii, Open-label Study Completed NCT01435655 Phase 3 tafamidis
4 A Phase 2/3 Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (NEURO-TTR Study) Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
5 APOLLO: A Phase 3 Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Patisiran (ALN-TTR02) in Transthyretin (TTR)-Mediated Polyneuropathy (Familial Amyloidotic Polyneuropathy-FAP) Completed NCT01960348 Phase 3 patisiran (ALN-TTR02);Sterile Normal Saline (0.9% NaCl)
6 An Open-Label Extension Of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3 Fx-1006A
7 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
8 Safety and Efficacy of Orally Administered Fx-1006A in Patients With Familial Amyloid Polyneuropathy (FAP): A Randomized, Double-blind, Placebo-controlled Study Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
9 A Phase 3 Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of 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)
10 Open-label, Safety and Efficacy Evaluation of FX-1006A in Patients With V122I or Wild-type Transthyretin (TTR) Amyloid Cardiomyopathy Completed NCT00935012 Phase 3 tafamidis
11 HELIOS-B: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy (ATTR Amyloidosis With Cardiomyopathy) Recruiting NCT04153149 Phase 3 Vutrisiran;Sterile Normal Saline (0.9% NaCl)
12 APOLLO-B: A Phase 3, Randomized, Double-blind, Placebo-controlled Multicenter Study to Evaluate the Efficacy and Safety of Patisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy (ATTR Amyloidosis With Cardiomyopathy) Recruiting NCT03997383 Phase 3 Placebo;Patisiran
13 A Phase 3 Global, Open-Label, Randomized Study to Evaluate the Efficacy and Safety of ION-682884 in Patients With Hereditary Transthyretin-Mediated Amyloid Polyneuropathy Recruiting NCT04136184 Phase 3 AKCEA-TTR-LRx;Inotersen
14 A Phase 3 Global, Double-Blind, Randomized, Placebo‑Controlled Study to Evaluate the Efficacy and Safety of ION-682884 in Patients With Transthyretin‑Mediated Amyloid Cardiomyopathy (ATTR CM) Recruiting NCT04136171 Phase 3 AKCEA-TTR-LRx;Placebo
15 A PHASE 3 MULTICENTER, OPEN-LABEL STUDY TO EVALUATE THE SAFETY OF DAILY ORAL DOSING OF TAFAMIDIS MEGLUMINE (PF-06291826-83) 20 MG OR 80 MG [OR TAFAMIDIS (PF-06291826-00) 61 MG] IN SUBJECTS DIAGNOSED WITH TRANSTHYRETIN CARDIOMYOPATHY (ATTR-CM) Recruiting NCT02791230 Phase 3 Tafamidis
16 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of AG10 in Subjects With Symptomatic Transthyretin Amyloid Cardiomyopathy (ATTRIBUTE-CM) Recruiting NCT03860935 Phase 3 AG10;Placebo Oral Tablet
17 An Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of ISIS 420915 in Patients With Familial Amyloid Polyneuropathy (FAP) Active, not recruiting NCT02175004 Phase 3 IONIS-TTR Rx
18 A Multicenter, Open-Label, Extension Study to Evaluate the Long-term Safety and Efficacy of Patisiran in Patients With Familial Amyloidotic Polyneuropathy Who Have Completed a Prior Patisiran Clinical Study Active, not recruiting NCT02510261 Phase 3 Patisiran (ALN-TTR02)
19 HELIOS-A: A Phase 3 Global, Randomized, Open-label Study to Evaluate the Efficacy and Safety of ALN-TTRSC02 in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Active, not recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
20 OPEN-LABEL SAFETY AND EFFICACY EVALUATION OF FX-1006A IN SUBJECTS WITH TRANSTHYRETIN (TTR) AMYLOIDOSIS Active, not recruiting NCT00925002 Phase 3 Tafamidis
21 A Phase III Randomized Study of Doxycycline and Tauroursodeoxycholic Acid (Doxy/TUDCA) Plus Standard Supportive Therapy Versus Standard Supportive Therapy Alone in Cardiac Amyloidosis Caused by Transthyretin Active, not recruiting NCT03481972 Phase 3 Doxycycline and tauroursodeoxycholic acid;Standard of care
22 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of AG10 in Subjects With Symptomatic Transthyretin Amyloid Polyneuropathy (ATTRibute-PN Trial) Not yet recruiting NCT04418024 Phase 3 AG10;Placebo
23 Assessment of 18F-Florbetaben Whole-body PET Imaging for the Comprehensive Detection of Cardiac and Extracardiac Sites of Amyloid Deposits Not yet recruiting NCT03616496 Phase 3 Neuraceq 300MBq/mL Solution for Injection for PET imaging
24 Study of SOM0226 in Familial Amyloid Polyneuropathy (FAP) Patients and Asymptomatic Carriers to Evaluate Protein Stabilization Activity Completed NCT02191826 Phase 1, Phase 2 SOM0226
25 An Open-label Study to Evaluate the Efficacy and Safety of Revusiran in Patients With Transthyretin-mediated Familial Amyloidotic Polyneuropathy With Disease Progression Post-Orthotopic Liver Transplant Completed NCT02595983 Phase 2 Revusiran
26 A Single Center, Twelve-month, Open-label, Prospective Study Followed by a Six-month Withdrawal Period to Evaluate the Efficacy, Tolerability, Safety and Pharmacokinetics of Doxycycline in Combination With Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
27 A Phase II Multicenter Pilot Study of the Safety and Efficacy of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
28 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
29 A Phase 2, Open-Label, Multi-Dose, Dose Escalation Trial to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intravenous Infusions of ALN-TTR02 in Patients With TTR Amyloidosis Completed NCT01617967 Phase 2 Patisiran
30 An 18 Month, Open Label Study of the Tolerability and Efficacy of a Combination of Doxycycline and Tauroursodeoxycholic Acid (TUDCA) in Patients With Transthyretin Amyloid Cardiomyopathy. Completed NCT01855360 Phase 1, Phase 2 Tauroursodeoxycholic Acid and Doxycycline
31 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
32 A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Safety, Clinical Activity, and Pharmacokinetics of ALN-TTR02 in Patients With Familial Amyloidotic Polyneuropathy Who Have Previously Received ALN-TTR02 Completed NCT01961921 Phase 2 ALN-TTR02 (patisiran) administered by intravenous (IV) infusion
33 A Phase 2, Randomized, Placebo-controlled, Dose-ranging Study of the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of AG10 in Patients With Symptomatic Transthyretin Amyloid Cardiomyopathy Completed NCT03458130 Phase 2 AG10;Placebo Oral Tablet
34 A Phase II Study of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2 Doxycycline 100 mg po bid x 12 months
35 24 Month Open Label Study of the Tolerability and Efficacy of an Antisense Oligonucleotide (Inotersen) in Patients With Transthyretin (TTR) Amyloid Cardiomyopathy Recruiting NCT03702829 Phase 2 Inotersen
36 An Open-Label Extension and Safety Monitoring Study of Patients With Symptomatic Transthyretin Cardiomyopathy Who Have Completed the Phase II Study AG10-201 Enrolling by invitation NCT03536767 Phase 2 AG10
37 A Multiple Treatment Session, Open Label Phase 2 Clinical Study of GSK2398852 Administered Following and Together With GSK2315698 in Cohorts of Patients With Cardiac Amyloidosis Terminated NCT03044353 Phase 2 GSK2315698 (CPHPC)
38 An 18 Month Open Label Study Of The Tolerability And Efficacy Of An Antisense Oligonucleotide In Patients With Wild-Type Transthyretin Amyloid Cardiomyopathy (Senile Systemic Amyloidosis) Withdrawn NCT02627820 Phase 2 Isis 420915/GSK 299872
39 A Phase 1, Randomized, Single-Blind, Placebo Controlled, Single-Ascending Dose, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN-TTRSC02 in Healthy Subjects Completed NCT02797847 Phase 1 ALN-TTRSC02;Sterile Normal Saline (0.9% NaCl)
40 A Phase 1, Randomized, Single-Blind, Placebo-Controlled, Dose Escalation Trial to Evaluate the Safety and Tolerability of a Single Dose of Intravenous ALN-TTR01 in Patients With TTR Amyloidosis Completed NCT01148953 Phase 1 ALN-TTR01;Sterile Normal Saline (0.9% NaCl)
41 A Dose Response Trial of Droxidopa to Treat Hypotension in Persons With SCI Completed NCT01354158 Phase 1 Droxidopa
42 A Phase 1, Randomized, Single-blind, Placebo-Controlled, Single Ascending Dose, Safety, Tolerability and Pharmacokinetics Study of ALN-TTR02 in Healthy Volunteers Completed NCT01559077 Phase 1 ALN-TTR02;Sterile Normal Saline (0.9% NaCl)
43 A Phase 1, First-in-Human, Double-Blind, Placebo-Controlled, Multicenter, Single and Multiple Ascending Dose Study of NI006 in Patients With Amyloid Transthyretin Cardiomyopathy Followed by an Open-Label Extension Recruiting NCT04360434 Phase 1 NI006;Placebo
44 Evaluation of 124I-p5+14 Injection as an Imaging Agent for the Detection of Systemic Amyloidosis Recruiting NCT03678259 Phase 1 124I-p5+14 Injection
45 A Phase 1, Open-label, Dose Escalation Study of Intravenous PRX004 in Subjects With Amyloid Transthyretin (ATTR) Amyloidosis Active, not recruiting NCT03336580 Phase 1 PRX004
46 An Adaptive, Open-Label Study to Evaluate the Biodistribution of 89Zirconium-labelled GSK2398852 in the Heart and Other Organs of Patients With Transthyretin Cardiomyopathy (ATTR-CM) Using Positron Emission Tomography (PET) Imaging Terminated NCT03417830 Phase 1 GSK2315698 (CPHPC);GSK2398852 (unlabeled anti-SAP mAb);89Zr-GSK2398852 (89Zr-labeled anti-SAP mAb)
47 A Phase I, Multi-Center, Open-Label Study to Examine the Pharmacokinetics of a Single Dose of Droxidopa in Subjects With Renal Impairment Compared to Healthy Volunteers Withdrawn NCT01468259 Phase 1 Droxidopa
48 Tc99m-PYP Scintigraphy in Order to Establish Incidence of Cardiac Transthyretin Amyloidosis Among Patients With Otherwise Unexplained Cardiomyopathies Unknown status NCT03098901
49 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Unknown status NCT03347669
50 A sTudy invesTigating the Role of Occult cArdiaC Amyloid in The Elderly With Aortic Stenosis Unknown status NCT03029026

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:

40
Liver, Heart, Kidney, Eye, Brain, Testes, Spinal Cord

Publications for Amyloidosis, Hereditary, Transthyretin-Related

Articles related to Amyloidosis, Hereditary, Transthyretin-Related:

(show top 50) (show all 900)
# Title Authors PMID Year
1
Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression. 54 6 56
18022643 2008
2
Transthyretin amyloidosis: a new mutation associated with dementia. 6 56 61
9066351 1997
3
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. 61 6 56
9017939 1997
4
Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) 54 6 56
8960746 1996
5
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 6 61 56
1351039 1992
6
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. 56 6
20697105 2010
7
Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr. 56 6
19365058 2009
8
The biological and chemical basis for tissue-selective amyloid disease. 56 6
15820680 2005
9
Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. 56 6
12771253 2003
10
Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 6 56
11385707 2001
11
Transthyretin-associated neuropathic amyloidosis. Pathogenesis and treatment. 56 6
11261421 2001
12
Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. 56 6
10488818 1999
13
Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. 56 6
8857732 1996
14
Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1. Clinical and genetic studies of a Japanese family. 6 56
8778271 1996
15
Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) 6 56
8579098 1996
16
Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. 6 56
7839813 1994
17
Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. 56 6
8064809 1994
18
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. 6 56
8100581 1993
19
Fibril in senile systemic amyloidosis is derived from normal transthyretin. 6 56
2320592 1990
20
Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. 56 6
3229002 1988
21
Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features. 6 56
3178532 1988
22
Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs. 6 56
3479441 1987
23
Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). 56 6
6736244 1984
24
Amyloid in hereditary amyloid polyneuropathy is related to prealbumin. 56 6
7018469 1981
25
Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin. 56 6
6782125 1981
26
Familial oculoleptomeningeal amyloidosis. 6 56
7417777 1980
27
Generalized amyloid in a family of Swedish origin. A study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement. 56 6
192115 1977
28
The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type). 56 6
4884226 1969
29
Primary familial amyloidosis. 56 6
4952599 1967
30
Vitreous opacities diagnostic of familial primary amyloidosis. 6 56
14404854 1959
31
Primary familial amyloidosis. 6 56
13593935 1958
32
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report. 6 54 61
15523922 2004
33
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. 56 61
29972757 2018
34
Safety and efficacy of RNAi therapy for transthyretin amyloidosis. 56 61
23984729 2013
35
On the origin of the transthyretin Val30Met familial amyloid polyneuropathy. 54 6
18460047 2008
36
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. 6 54
14673473 2004
37
Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies. 61 56
14987380 2002
38
Hereditary Transthyretin Amyloidosis 6 61
20301373 2001
39
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome. 6 54
11140845 2000
40
Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. 6 54
10506096 1999
41
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 6 54
10071047 1999
42
Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family. 54 6
9843084 1998
43
Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy. 61 6
9818883 1998
44
Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. 54 6
9547003 1998
45
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. 54 6
9475090 1998
46
Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro). 54 6
7910950 1994
47
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). 54 6
7914929 1994
48
Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity. 6 54
8218290 1993
49
Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. 61 56
8097803 1993
50
A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. 6 54
1362222 1992

Variations for Amyloidosis, Hereditary, Transthyretin-Related

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

6 (show top 50) (show all 139) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTR NM_000371.3(TTR):c.212_217dup (p.Glu71_Ser72dup)duplication Pathogenic 545518 rs1555631390 18:29175091-29175092 18:31595128-31595129
2 TTR NM_000371.3(TTR):c.130C>T (p.Pro44Ser)SNV Pathogenic 181693 rs11541790 18:29172919-29172919 18:31592956-31592956
3 TTR NM_000371.3(TTR):c.210T>A (p.Ser70Arg)SNV Pathogenic 36890 rs121918076 18:29175092-29175092 18:31595129-31595129
4 TTR NM_000371.4(TTR):c.113A>G (p.Asp38Gly)SNV Pathogenic 13463 rs121918098 18:29172902-29172902 18:31592939-31592939
5 TTR NM_000371.3(TTR):c.191T>C (p.Phe64Ser)SNV Pathogenic 13461 rs104894665 18:29172980-29172980 18:31593017-31593017
6 TTR NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del)short repeat Pathogenic 13460 rs121918096 18:29178615-29178617 18:31598652-31598654
7 TTR NM_000371.3(TTR):c.199G>A (p.Gly67Arg)SNV Pathogenic 13459 rs387906523 18:29172988-29172988 18:31593025-31593025
8 TTR NM_000371.3(TTR):c.95T>C (p.Leu32Pro)SNV Pathogenic 13457 rs121918094 18:29172884-29172884 18:31592921-31592921
9 TTR NM_000371.3(TTR):c.157T>C (p.Phe53Leu)SNV Pathogenic 13456 rs121918068 18:29172946-29172946 18:31592983-31592983
10 TTR NM_000371.3(TTR):c.118G>A (p.Val40Ile)SNV Pathogenic 13455 rs121918093 18:29172907-29172907 18:31592944-31592944
11 TTR NM_000371.3(TTR):c.250T>C (p.Phe84Leu)SNV Pathogenic 13453 rs121918091 18:29175132-29175132 18:31595169-31595169
12 TTR NM_000371.3(TTR):c.200G>C (p.Gly67Ala)SNV Pathogenic 13451 rs121918090 18:29172989-29172989 18:31593026-31593026
13 TTR NM_000371.3(TTR):c.350C>G (p.Ala117Gly)SNV Pathogenic 13448 rs121918087 18:29178544-29178544 18:31598581-31598581
14 TTR NM_000371.3(TTR):c.241G>A (p.Glu81Lys)SNV Pathogenic 13447 rs121918086 18:29175123-29175123 18:31595160-31595160
15 TTR NM_000371.3(TTR):c.270A>C (p.Lys90Asn)SNV Pathogenic 13443 rs267607160 18:29175152-29175152 18:31595189-31595189
16 TTR NM_000371.3(TTR):c.325G>C (p.Glu109Gln)SNV Pathogenic 13442 rs121918082 18:29175207-29175207 18:31595244-31595244
17 TTR NM_000371.3(TTR):c.205A>G (p.Thr69Ala)SNV Pathogenic 13441 rs121918081 18:29175087-29175087 18:31595124-31595124
18 TTR NM_000371.3(TTR):c.148G>C (p.Val50Leu)SNV Pathogenic 13440 rs28933979 18:29172937-29172937 18:31592974-31592974
19 TTR NM_000371.3(TTR):c.209G>T (p.Ser70Ile)SNV Pathogenic 13439 rs121918080 18:29175091-29175091 18:31595128-31595128
20 TTR NM_000371.3(TTR):c.224T>C (p.Leu75Pro)SNV Pathogenic 13438 rs121918079 18:29175106-29175106 18:31595143-31595143
21 TTR NM_000371.3(TTR):c.133G>A (p.Ala45Thr)SNV Pathogenic 13437 rs104894664 18:29172922-29172922 18:31592959-31592959
22 TTR NM_000371.3(TTR):c.199G>C (p.Gly67Arg)SNV Pathogenic 13436 rs387906523 18:29172988-29172988 18:31593025-31593025
23 TTR NM_000371.3(TTR):c.233T>G (p.Leu78Arg)SNV Pathogenic 13435 rs121918069 18:29175115-29175115 18:31595152-31595152
24 TTR NM_000371.3(TTR):c.391C>A (p.Leu131Met)SNV Pathogenic 13424 rs121918073 18:29178585-29178585 18:31598622-31598622
25 TTR NM_000371.3(TTR):c.311T>G (p.Ile104Ser)SNV Pathogenic 13423 rs121918072 18:29175193-29175193 18:31595230-31595230
26 TTR NM_000371.3(TTR):c.290C>A (p.Ser97Tyr)SNV Pathogenic 13422 rs121918071 18:29175172-29175172 18:31595209-31595209
27 TTR NM_000371.4(TTR):c.238A>G (p.Thr80Ala)SNV Pathogenic 13421 rs121918070 18:29175120-29175120 18:31595157-31595157
28 TTR NM_000371.3(TTR):c.233T>A (p.Leu78His)SNV Pathogenic 13420 rs121918069 18:29175115-29175115 18:31595152-31595152
29 TTR NM_000371.3(TTR):c.401A>G (p.Tyr134Cys)SNV Pathogenic 13419 rs121918075 18:29178595-29178595 18:31598632-31598632
30 TTR NM_000371.3(TTR):c.157T>A (p.Phe53Ile)SNV Pathogenic 13418 rs121918068 18:29172946-29172946 18:31592983-31592983
31 TTR NM_000371.4(TTR):c.148G>A (p.Val50Met)SNV Pathogenic 13417 rs28933979 18:29172937-29172937 18:31592974-31592974
32 TTR NM_000371.3(TTR):c.166G>C (p.Ala56Pro)SNV Pathogenic 13432 rs121918077 18:29172955-29172955 18:31592992-31592992
33 TTR NM_000371.3(TTR):c.149T>C (p.Val50Ala)SNV Pathogenic 13430 rs79977247 18:29172938-29172938 18:31592975-31592975
34 TTR NM_000371.3(TTR):c.210T>G (p.Ser70Arg)SNV Pathogenic 13429 rs121918076 18:29175092-29175092 18:31595129-31595129
35 TTR NM_000371.3(TTR):c.185A>G (p.Glu62Gly)SNV Pathogenic 13428 rs11541796 18:29172974-29172974 18:31593011-31593011
36 TTR NM_000371.3(TTR):c.272T>C (p.Val91Ala)SNV Pathogenic 13445 rs121918084 18:29175154-29175154 18:31595191-31595191
37 TTR NM_000371.4(TTR):c.161G>C (p.Arg54Thr)SNV Pathogenic 840757 18:29172950-29172950 18:31592987-31592987
38 TTR NM_000371.4(TTR):c.323A>G (p.His108Arg)SNV Pathogenic 853918 18:29175205-29175205 18:31595242-31595242
39 TTR NM_000371.3(TTR):c.229G>A (p.Gly77Arg)SNV Pathogenic 660445 18:29175111-29175111 18:31595148-31595148
40 TTR NM_000371.3(TTR):c.173A>C (p.Asp58Ala)SNV Pathogenic 644083 18:29172962-29172962 18:31592999-31592999
41 TTR NM_000371.3(TTR):c.160A>G (p.Arg54Gly)SNV Pathogenic 660385 18:29172949-29172949 18:31592986-31592986
42 TTR NM_000371.4(TTR):c.200G>A (p.Gly67Glu)SNV Pathogenic 803481 18:29172989-29172989 18:31593026-31593026
43 TTR NM_000371.3(TTR):c.116C>A (p.Ala39Asp)SNV Pathogenic/Likely pathogenic 565560 rs11541795 18:29172905-29172905 18:31592942-31592942
44 TTR NM_000371.4(TTR):c.252T>G (p.Phe84Leu)SNV Pathogenic/Likely pathogenic 845368 18:29175134-29175134 18:31595171-31595171
45 TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile)SNV Pathogenic/Likely pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655
46 TTR NM_000371.3(TTR):c.262A>T (p.Ile88Leu)SNV Pathogenic/Likely pathogenic 13446 rs121918085 18:29175144-29175144 18:31595181-31595181
47 TTR NM_000371.3(TTR):c.379A>G (p.Ile127Val)SNV Pathogenic/Likely pathogenic 13450 rs121918089 18:29178573-29178573 18:31598610-31598610
48 TTR NM_000371.4(TTR):c.349G>T (p.Ala117Ser)SNV Pathogenic/Likely pathogenic 13468 rs267607161 18:29178543-29178543 18:31598580-31598580
49 TTR NM_000371.3(TTR):c.265T>C (p.Tyr89His)SNV Pathogenic/Likely pathogenic 13466 rs121918100 18:29175147-29175147 18:31595184-31595184
50 TTR NM_000371.3(TTR):c.208A>C (p.Ser70Arg)SNV Likely pathogenic 36889 rs386134269 18:29175090-29175090 18:31595127-31595127

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

73 (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

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
Show member pathways
13.34 TTR SNCA MBTPS2 IAPP GSN B2M
2 11.56 SOD1 SNCA PRNP HTT APP
3 11.06 SOD1 PRNP APP
4 10.78 TTR APOA1 ALB

GO Terms for Amyloidosis, Hereditary, Transthyretin-Related

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.98 SOD1 SNCA PRNP IAPP HTT GSN
2 extracellular exosome GO:0070062 9.93 TTR SOD1 SERPINA7 PTPN13 PRNP GSN
3 protein-containing complex GO:0032991 9.91 TTR SOD1 SNCA NPPB HTT GSN
4 early endosome GO:0005769 9.8 HTT APP APOA2 APOA1
5 endoplasmic reticulum lumen GO:0005788 9.8 B2M APP APOA2 APOA1 ALB
6 extracellular region GO:0005576 9.8 TTR SOD1 SNCA SERPINA7 NPPB IAPP
7 blood microparticle GO:0072562 9.65 GSN APOA2 APOA1 APCS ALB
8 inclusion body GO:0016234 9.5 SNCA PRNP HTT
9 chylomicron GO:0042627 9.48 APOA2 APOA1
10 spherical high-density lipoprotein particle GO:0034366 9.46 APOA2 APOA1
11 extracellular space GO:0005615 9.44 TTR SOD1 SNCA SERPINA7 NPPB IAPP

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.88 SOD1 SNCA B2M APOA2 APOA1
2 negative regulation of endopeptidase activity GO:0010951 9.83 SERPINA7 PRNP CRIM1 APP
3 negative regulation of protein phosphorylation GO:0001933 9.81 SNCA PTPN13 PRNP
4 learning or memory GO:0007611 9.78 PRNP B2M APP
5 retinoid metabolic process GO:0001523 9.77 TTR APOA2 APOA1
6 platelet degranulation GO:0002576 9.73 SOD1 APP APOA1 ALB
7 positive regulation of phagocytosis GO:0050766 9.71 SOD1 APOA2 APOA1
8 retina homeostasis GO:0001895 9.67 SOD1 B2M ALB
9 cholesterol metabolic process GO:0008203 9.67 MBTPS2 APP APOA2 APOA1
10 response to copper ion GO:0046688 9.66 SOD1 PRNP
11 cellular copper ion homeostasis GO:0006878 9.65 PRNP APP
12 negative regulation of long-term synaptic potentiation GO:1900272 9.65 PRNP APP
13 high-density lipoprotein particle assembly GO:0034380 9.65 APOA2 APOA1
14 phospholipid efflux GO:0033700 9.64 APOA2 APOA1
15 high-density lipoprotein particle clearance GO:0034384 9.64 APOA2 APOA1
16 neuron projection maintenance GO:1990535 9.63 PRNP APP
17 chylomicron assembly GO:0034378 9.62 APOA2 APOA1
18 chylomicron remodeling GO:0034371 9.62 APOA2 APOA1
19 positive regulation of cholesterol esterification GO:0010873 9.61 APOA2 APOA1
20 thyroid hormone transport GO:0070327 9.6 TTR SERPINA7
21 peptidyl-methionine modification GO:0018206 9.58 APOA2 APOA1
22 negative regulation of cytokine production involved in immune response GO:0002719 9.58 APOA2 APOA1
23 cellular response to copper ion GO:0071280 9.58 SNCA PRNP APP
24 regulation of intestinal cholesterol absorption GO:0030300 9.57 APOA2 APOA1
25 protein oxidation GO:0018158 9.56 APOA2 APOA1
26 negative regulation of cytokine secretion involved in immune response GO:0002740 9.55 APOA2 APOA1
27 negative regulation of lipase activity GO:0060192 9.51 APOA2 APOA1
28 high-density lipoprotein particle remodeling GO:0034375 9.5 APOA2 APOA1 ALB
29 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.46 APOA2 APOA1
30 protein destabilization GO:0031648 9.46 SNCA PRNP HTT GSN
31 amyloid fibril formation GO:1990000 9.43 GSN B2M APP
32 cellular protein metabolic process GO:0044267 9.32 TTR SNCA IAPP GSN B2M APP
33 modulation of age-related behavioral decline GO:0090647 9.13 PRNP B2M APP

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 TTR SOD1 SNCA PTPN13 PRNP NPPB
2 signaling receptor binding GO:0005102 9.83 NPPB IAPP APP APOA2 APOA1
3 chaperone binding GO:0051087 9.7 SOD1 PRNP ALB
4 serine-type endopeptidase inhibitor activity GO:0004867 9.69 SERPINA7 CRIM1 APP
5 amyloid-beta binding GO:0001540 9.67 PRNP IAPP APOA1
6 heat shock protein binding GO:0031072 9.65 HTT APOA2 APOA1
7 cuprous ion binding GO:1903136 9.4 SNCA PRNP
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.37 APOA2 APOA1
9 identical protein binding GO:0042802 9.36 TTR SOD1 SNCA PRNP IAPP HTT
10 lipase inhibitor activity GO:0055102 9.32 APOA2 APOA1
11 high-density lipoprotein particle receptor binding GO:0070653 9.26 APOA2 APOA1
12 copper ion binding GO:0005507 9.26 SOD1 SNCA PRNP ALB
13 apolipoprotein receptor binding GO:0034190 9.16 APOA2 APOA1

Sources for Amyloidosis, Hereditary, Transthyretin-Related

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