AMYL-TTR
MCID: AMY087
MIFTS: 57

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

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

Aliases & Classifications for Amyloidosis, Hereditary, Transthyretin-Related

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

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

Characteristics:

Orphanet epidemiological data:

59
attrv30m amyloidosis
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan),1-9/100000 (Spain); Age of onset: Adult; Age of death: adult;
attrv122i amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


GeneReviews:

24
Penetrance Because the penetrance for familial ttr amyloidosis is not 100%, an individual with a ttr pathogenic variant may be symptom free until late adulthood. the penetrance may vary by variant, geographic region, or ethnic group...

Classifications:



Summaries for Amyloidosis, Hereditary, Transthyretin-Related

OMIM : 57 Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix (summary by Hund et al., 2001). Patients with transthyretin amyloidosis typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms. Before the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by Hund et al., 2001). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; 176300.0001) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss (176300.0006) or Maryland/German (176300.0003) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene (107650) has been referred to as FAP III or Iowa type (see 105200 and 107680.0010). The Finnish type of amyloidosis (105120) has been referred to as FAP IV and is caused by mutations in gelsolin (137350). Systems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful (Saraiva, 2002). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, 180300; familial Mediterranean fever, 249100), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see 104750). Ando et al. (2005) provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac. (105210)

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

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

Genetics Home Reference : 25 Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

NIH Rare Diseases : 53 Familial transthyretin amyloidosis (FTA) is a progressive condition characterized by abnormal deposits of a protein called amyloid in the body's organs and tissues. Signs and symptoms can vary significantly depending on the location of deposits. Most people have nervous system symptoms that may affect the peripheral, autonomic or central nervous system (brain and spinal cord). Amyloid deposits in the nerves of the peripheral nervous system cause peripheral neuropathy (loss of sensation). Deposits affecting the autonomic nervous system cause a disruption to involuntary body functions, such as blood pressure, heart rate, and digestion. Other areas of the body affected may include the heart, kidneys, eyes, and gastrointestinal tract. FTA is caused by mutations in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR gene mutation will develop FTA. There is no treatment available that reverses damage caused by amyloid deposits, but there are treatments that may prevent or delay progression. Treatment depends on the tissues affected, and may include liver transplantation (which removes the source of the deposits), heart and/or kidney transplantation, vitrectomy, and/or various medications. Life expectancy depends on many factors and may range from several years to decades after symptoms begin.

UniProtKB/Swiss-Prot : 75 Amyloidosis, transthyretin-related: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.

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

GeneReviews: NBK1194

Related Diseases for Amyloidosis, Hereditary, Transthyretin-Related

Diseases in the Amyloidosis family:

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

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 polyneuropathy 30.2 APOA1 GSN TTR
2 amyloid neuropathy 30.2 APOA1 GSN TTR
3 hereditary amyloidosis 29.9 APOA1 GSN TTR
4 amyloidosis 29.6 APOA1 GSN TTR
5 wild type attr amyloidosis 12.1
6 familial adenomatous polyposis 12.0
7 attenuated familial adenomatous polyposis 11.9
8 familial adenomatous polyposis 1 11.9
9 mismatch repair cancer syndrome 11.6
10 familial adenomatous polyposis 2 11.4
11 mutyh-associated polyposis 11.3
12 breast ductal carcinoma 11.2
13 glioma 11.2
14 gastric cancer 11.2
15 familial amyloidosis, finnish type 11.1
16 hemophagocytic lymphohistiocytosis, familial, 5 11.1
17 infiltrative basal cell carcinoma 11.1
18 medulloblastoma 11.0
19 desmoid tumor 11.0
20 familial adenomatous polyposis 3 10.9
21 familial adenomatous polyposis 4 10.9
22 familial adenomatous polyposis due to 5q22.2 microdeletion 10.9
23 axin2-related attenuated familial adenomatous polyposis 10.9
24 desmoid disease, hereditary 10.8
25 pouchitis 10.8
26 breast cancer 10.4
27 neuropathy 10.3
28 amyloidosis, finnish type 10.2 GSN TTR
29 blepharochalasis 10.2 GSN TTR
30 pediatric multiple sclerosis 10.2 GSN TTR
31 autonomic peripheral neuropathy 10.2 MBTPS2 TTR
32 adenoma 10.2
33 amyloidosis aa 10.1 APOA1 TTR
34 colorectal cancer 10.1
35 type i 10.1
36 thyroiditis 10.0
37 autonomic nervous system disease 10.0 DBH TTR
38 pancreatic ductal adenocarcinoma 9.9
39 chronic interstitial cystitis 9.9
40 polycystic kidney disease 9.9
41 adenocarcinoma 9.9
42 duodenitis 9.9
43 pure autonomic failure 9.9 DBH TTR
44 testicular yolk sac tumor 9.8 APOA1 TTR
45 amyloidosis, familial visceral 9.8 APOA1 GSN TTR
46 tuberous sclerosis 9.5 DBH GSN

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



Diseases related to Amyloidosis, Hereditary, Transthyretin-Related

Symptoms & Phenotypes for Amyloidosis, Hereditary, Transthyretin-Related

Symptoms via clinical synopsis from OMIM:

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

Abdomen Gastrointestinal:
constipation
diarrhea
gastrointestinal dysautonomia

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

Genitourinary External Genitalia Male:
erectile dysfunction

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

Genitourinary Bladder:
urinary incontinence

Muscle Soft Tissue:
muscle weakness due to peripheral neuropathy


Clinical features from OMIM:

105210

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

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
2 dysautonomia 59 32 frequent (33%) Frequent (79-30%) HP:0002459
3 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
4 cardiomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001640
5 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
6 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
7 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
8 cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001638
9 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
10 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
11 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
12 abnormal test result 59 32 hallmark (90%) Very frequent (99-80%) HP:0500014
13 vitreous floaters 59 32 frequent (33%) Frequent (79-30%) HP:0100832
14 constrictive median neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0012185
15 nystagmus 32 HP:0000639
16 seizures 32 HP:0001250
17 ataxia 32 HP:0001251
18 spasticity 32 HP:0001257
19 dysarthria 32 HP:0001260
20 muscle weakness 32 HP:0001324
21 tremor 32 HP:0001337
22 hearing impairment 32 HP:0000365
23 visual impairment 32 HP:0000505
24 abnormal renal physiology 59 Frequent (79-30%)
25 stroke-like episode 32 HP:0002401
26 dementia 32 HP:0000726
27 hyporeflexia 32 HP:0001265
28 headache 32 HP:0002315
29 urinary incontinence 32 HP:0000020
30 orthostatic hypotension due to autonomic dysfunction 32 HP:0004926
31 hemiparesis 32 HP:0001269
32 increased csf protein 32 HP:0002922
33 amyloidosis 32 HP:0011034
34 paraplegia 32 HP:0010550
35 peripheral axonal neuropathy 32 HP:0003477
36 amyloid deposition in the vitreous humor 32 HP:0007841

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


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

Drugs & Therapeutics for Amyloidosis, Hereditary, Transthyretin-Related

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Analgesics Phase 2, Phase 3
3 Analgesics, Non-Narcotic Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
6 Antirheumatic Agents Phase 2, Phase 3
7 Cyclooxygenase Inhibitors Phase 2, Phase 3
8 Peripheral Nervous System Agents Phase 2, Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
10
Tauroursodeoxycholic acid Approved, Investigational Phase 2,Phase 1 14605-22-2 12443252
11
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
12 Anti-Bacterial Agents Phase 2,Phase 1
13 Anti-Infective Agents Phase 2,Phase 1
14 Antimalarials Phase 2,Phase 1
15 Antiparasitic Agents Phase 2,Phase 1
16 Antiprotozoal Agents Phase 2,Phase 1
17 Antiviral Agents Phase 2,Phase 1
18 Cholagogues and Choleretics Phase 2,Phase 1
19 Gastrointestinal Agents Phase 2,Phase 1
20 Taurochenodeoxycholic Acid Phase 2,Phase 1
21 Antiparkinson Agents Phase 1, Phase 2
22 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
23 Catechol Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 2, Phase 3 Inotersen;Placebo
2 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3 tafamidis
3 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3 Fx-1006A
4 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
5 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
6 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Completed NCT01960348 Phase 3 patisiran (ALN-TTR02);Sterile Normal Saline (0.9% NaCl)
7 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3 Revusiran (ALN-TTRSC);Sterile Normal Saline (0.9% NaCl)
8 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
9 Safety And Efficacy Evaluation Of Fx-1006A In Subjects With Transthyretin Amyloidosis Active, not recruiting NCT00925002 Phase 3 Tafamidis
10 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)
11 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
12 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
13 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
14 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
15 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
16 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
17 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)
18 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
19 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
20 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
21 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577 Not Applicable
22 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
23 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
24 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
25 Positron Emission Tomography / Magnetic Resonance Imaging in Aortic Stenosis Recruiting NCT03352089
26 Early Diagnosis of TTR Amyloidosis by Use of Molecular Biology Recruiting NCT03373370
27 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669 Not Applicable
28 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
29 ATTR Expanded Access Program (EAP) by Ionis Available NCT03400098 Inotersen
30 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Available NCT02939820 patisiran (ALN-TTR02)
31 Mitochondrial Function in Transthyretin Amyloidosis Not yet recruiting NCT03328338
32 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901 Not Applicable

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

Genetic Tests for Amyloidosis, Hereditary, Transthyretin-Related

Anatomical Context for Amyloidosis, Hereditary, Transthyretin-Related

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

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

Publications for Amyloidosis, Hereditary, Transthyretin-Related

Articles related to Amyloidosis, Hereditary, Transthyretin-Related:

(show top 50) (show all 128)
# Title Authors Year
1
Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). ( 29424556 )
2018
2
Oligonucleotide Drugs for Transthyretin Amyloidosis. ( 29972750 )
2018
3
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. ( 29972753 )
2018
4
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. ( 29972757 )
2018
5
Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis. ( 29209781 )
2018
6
True, true unrelated? Coexistence of Waldenstrom's macroglobulinemia and cardiac transthyretin Amyloidosis. ( 29674499 )
2018
7
Transthyretin amyloidosis: a little history of hereditary amyloidosis. ( 28434305 )
2017
8
Clinicopathological and biochemical findings of thyroid amyloid in hereditary transthyretin amyloidosis with and without liver transplantation. ( 28081656 )
2017
9
Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy. ( 28475415 )
2017
10
Pharmacokinetics of tafamidis, a transthyretin amyloidosis drug, in rats. ( 28803538 )
2017
11
Ocular Manifestations of Familial Transthyretin Amyloidosis. ( 28911993 )
2017
12
Serum Proteomic Variability Associated with Clinical Phenotype in Familial Transthyretin Amyloidosis (ATTRm). ( 28922609 )
2017
13
End-stage renal failure due to transthyretin amyloidosis after liver transplantation: outcomes in 19 registry cases. ( 28434351 )
2017
14
Effect of doxycycline and ursodeoxycholic acid on transthyretin amyloidosis. ( 28042702 )
2016
15
Positron emission tomography (PET) utilizing Pittsburgh compound B (PIB) for detection of amyloid heart deposits in hereditary transthyretin amyloidosis (ATTR). ( 27645889 )
2016
16
Curcumin: A multi-target disease-modifying agent for late-stage transthyretin amyloidosis. ( 27197872 )
2016
17
A representative case of hereditary transthyretin amyloidosis complicated by intramyocardial hemorrhage. ( 25427692 )
2015
18
Liver transplantation in transthyretin amyloidosis: issues and challenges. ( 25482846 )
2015
19
Schwann cells contribute to neurodegeneration in transthyretin amyloidosis. ( 25693163 )
2015
20
Cardiac Findings and Events Observed in an Open-Label Clinical Trial of Tafamidis in Patients with non-Val30Met and non-Val122Ile Hereditary Transthyretin Amyloidosis. ( 25743445 )
2015
21
Hereditary Transthyretin Amyloidosis in Eight Chinese Families. ( 26521788 )
2015
22
Outcome of gastric emptying and gastrointestinal symptoms after liver transplantation for hereditary transthyretin amyloidosis. ( 25908211 )
2015
23
Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study. ( 25997029 )
2015
24
Reply: Liver transplantation in transthyretin amyloidosis: Issues and challenges. ( 25891323 )
2015
25
Noninvasive risk stratification of patients with transthyretin amyloidosis. ( 24726252 )
2014
26
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt). ( 25367359 )
2014
27
Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs. ( 24601850 )
2014
28
Tuning transthyretin amyloidosis inhibition properties of iododiflunisal by combinatorial engineering of the non-salicylic ring substitutions. ( 25394203 )
2014
29
First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis. ( 25130926 )
2014
30
THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. ( 24767411 )
2014
31
Recent progress in the understanding and treatment of transthyretin amyloidosis. ( 24749898 )
2014
32
Recent advances in transthyretin amyloidosis therapy. ( 25228988 )
2014
33
Interleukin-1 signaling pathway as a therapeutic target in transthyretin amyloidosis. ( 24918964 )
2014
34
Novel drugs targeting transthyretin amyloidosis. ( 24464360 )
2014
35
[Hereditary transthyretin amyloidosis]. ( 25123367 )
2014
36
Molecular tweezers targeting transthyretin amyloidosis. ( 24459092 )
2014
37
Native T1 Mapping in Transthyretin Amyloidosis. ( 24412190 )
2014
38
Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review. ( 24601824 )
2014
39
CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. ( 25091367 )
2014
40
Loss of gastric interstitial cells of Cajal in patients with hereditary transthyretin amyloidosis. ( 23642163 )
2013
41
The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology. ( 23193943 )
2013
42
Safety and efficacy of RNAi therapy for transthyretin amyloidosis. ( 23984729 )
2013
43
Derivatization strategies for CE-LIF analysis of biomarkers: towards a clinical diagnostic of familial transthyretin amyloidosis. ( 24254376 )
2013
44
Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene. ( 23317988 )
2013
45
Induced pluripotent stem cell modeling of multisystemic, hereditary transthyretin amyloidosis. ( 24286032 )
2013
46
Systemic transthyretin amyloidosis in a patient with bent spine syndrome. ( 23638719 )
2013
47
Transthyretin amyloidosis with pulmonary involvement in a patient with monoclonal gammapathy. ( 24142783 )
2013
48
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. ( 24101373 )
2013
49
Genotype, echocardiography, and survival in familial transthyretin amyloidosis. ( 24131106 )
2013
50
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. ( 23438977 )
2013

Variations for Amyloidosis, Hereditary, Transthyretin-Related

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

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

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

6
(show top 50) (show all 140)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
2 TTR NM_000371.3(TTR): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs28933979 GRCh38 Chromosome 18, 31592974: 31592974
3 TTR NM_000371.3(TTR): c.157T> A (p.Phe53Ile) single nucleotide variant Pathogenic rs121918068 GRCh37 Chromosome 18, 29172946: 29172946
4 TTR NM_000371.3(TTR): c.157T> A (p.Phe53Ile) single nucleotide variant Pathogenic rs121918068 GRCh38 Chromosome 18, 31592983: 31592983
5 TTR NM_000371.3(TTR): c.401A> G (p.Tyr134Cys) single nucleotide variant Pathogenic rs121918075 GRCh37 Chromosome 18, 29178595: 29178595
6 TTR NM_000371.3(TTR): c.401A> G (p.Tyr134Cys) single nucleotide variant Pathogenic rs121918075 GRCh38 Chromosome 18, 31598632: 31598632
7 TTR NM_000371.3(TTR): c.233T> A (p.Leu78His) single nucleotide variant Pathogenic rs121918069 GRCh37 Chromosome 18, 29175115: 29175115
8 TTR NM_000371.3(TTR): c.233T> A (p.Leu78His) single nucleotide variant Pathogenic rs121918069 GRCh38 Chromosome 18, 31595152: 31595152
9 TTR NM_000371.3(TTR): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic rs121918070 GRCh37 Chromosome 18, 29175120: 29175120
10 TTR NM_000371.3(TTR): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic rs121918070 GRCh38 Chromosome 18, 31595157: 31595157
11 TTR NM_000371.3(TTR): c.290C> A (p.Ser97Tyr) single nucleotide variant Pathogenic rs121918071 GRCh37 Chromosome 18, 29175172: 29175172
12 TTR NM_000371.3(TTR): c.290C> A (p.Ser97Tyr) single nucleotide variant Pathogenic rs121918071 GRCh38 Chromosome 18, 31595209: 31595209
13 TTR NM_000371.3(TTR): c.311T> G (p.Ile104Ser) single nucleotide variant Pathogenic rs121918072 GRCh37 Chromosome 18, 29175193: 29175193
14 TTR NM_000371.3(TTR): c.311T> G (p.Ile104Ser) single nucleotide variant Pathogenic rs121918072 GRCh38 Chromosome 18, 31595230: 31595230
15 TTR NM_000371.3(TTR): c.391C> A (p.Leu131Met) single nucleotide variant Pathogenic rs121918073 GRCh37 Chromosome 18, 29178585: 29178585
16 TTR NM_000371.3(TTR): c.391C> A (p.Leu131Met) single nucleotide variant Pathogenic rs121918073 GRCh38 Chromosome 18, 31598622: 31598622
17 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh37 Chromosome 18, 29178618: 29178618
18 TTR NM_000371.3(TTR): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic rs76992529 GRCh38 Chromosome 18, 31598655: 31598655
19 TTR NM_000371.3(TTR): c.185A> G (p.Glu62Gly) single nucleotide variant Pathogenic rs11541796 GRCh37 Chromosome 18, 29172974: 29172974
20 TTR NM_000371.3(TTR): c.185A> G (p.Glu62Gly) single nucleotide variant Pathogenic rs11541796 GRCh38 Chromosome 18, 31593011: 31593011
21 TTR NM_000371.3(TTR): c.210T> G (p.Ser70Arg) single nucleotide variant Pathogenic rs121918076 GRCh37 Chromosome 18, 29175092: 29175092
22 TTR NM_000371.3(TTR): c.210T> G (p.Ser70Arg) single nucleotide variant Pathogenic rs121918076 GRCh38 Chromosome 18, 31595129: 31595129
23 TTR NM_000371.3(TTR): c.149T> C (p.Val50Ala) single nucleotide variant Pathogenic rs79977247 GRCh37 Chromosome 18, 29172938: 29172938
24 TTR NM_000371.3(TTR): c.149T> C (p.Val50Ala) single nucleotide variant Pathogenic rs79977247 GRCh38 Chromosome 18, 31592975: 31592975
25 TTR NM_000371.3(TTR): c.166G> C (p.Ala56Pro) single nucleotide variant Pathogenic rs121918077 GRCh37 Chromosome 18, 29172955: 29172955
26 TTR NM_000371.3(TTR): c.166G> C (p.Ala56Pro) single nucleotide variant Pathogenic rs121918077 GRCh38 Chromosome 18, 31592992: 31592992
27 TTR NM_000371.3(TTR): c.416C> T (p.Thr139Met) single nucleotide variant risk factor rs28933981 GRCh37 Chromosome 18, 29178610: 29178610
28 TTR NM_000371.3(TTR): c.416C> T (p.Thr139Met) single nucleotide variant risk factor rs28933981 GRCh38 Chromosome 18, 31598647: 31598647
29 TTR NM_000371.3(TTR): c.233T> G (p.Leu78Arg) single nucleotide variant Pathogenic rs121918069 GRCh37 Chromosome 18, 29175115: 29175115
30 TTR NM_000371.3(TTR): c.233T> G (p.Leu78Arg) single nucleotide variant Pathogenic rs121918069 GRCh38 Chromosome 18, 31595152: 31595152
31 TTR NM_000371.3(TTR): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387906523 GRCh37 Chromosome 18, 29172988: 29172988
32 TTR NM_000371.3(TTR): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387906523 GRCh38 Chromosome 18, 31593025: 31593025
33 TTR NM_000371.3(TTR): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic rs104894664 GRCh37 Chromosome 18, 29172922: 29172922
34 TTR NM_000371.3(TTR): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic rs104894664 GRCh38 Chromosome 18, 31592959: 31592959
35 TTR NM_000371.3(TTR): c.224T> C (p.Leu75Pro) single nucleotide variant Pathogenic rs121918079 GRCh37 Chromosome 18, 29175106: 29175106
36 TTR NM_000371.3(TTR): c.224T> C (p.Leu75Pro) single nucleotide variant Pathogenic rs121918079 GRCh38 Chromosome 18, 31595143: 31595143
37 TTR NM_000371.3(TTR): c.209G> T (p.Ser70Ile) single nucleotide variant Pathogenic rs121918080 GRCh37 Chromosome 18, 29175091: 29175091
38 TTR NM_000371.3(TTR): c.209G> T (p.Ser70Ile) single nucleotide variant Pathogenic rs121918080 GRCh38 Chromosome 18, 31595128: 31595128
39 TTR NM_000371.3(TTR): c.148G> C (p.Val50Leu) single nucleotide variant Pathogenic rs28933979 GRCh37 Chromosome 18, 29172937: 29172937
40 TTR NM_000371.3(TTR): c.148G> C (p.Val50Leu) single nucleotide variant Pathogenic rs28933979 GRCh38 Chromosome 18, 31592974: 31592974
41 TTR NM_000371.3(TTR): c.205A> G (p.Thr69Ala) single nucleotide variant Pathogenic rs121918081 GRCh37 Chromosome 18, 29175087: 29175087
42 TTR NM_000371.3(TTR): c.205A> G (p.Thr69Ala) single nucleotide variant Pathogenic rs121918081 GRCh38 Chromosome 18, 31595124: 31595124
43 TTR NM_000371.3(TTR): c.325G> C (p.Glu109Gln) single nucleotide variant Pathogenic rs121918082 GRCh37 Chromosome 18, 29175207: 29175207
44 TTR NM_000371.3(TTR): c.325G> C (p.Glu109Gln) single nucleotide variant Pathogenic rs121918082 GRCh38 Chromosome 18, 31595244: 31595244
45 TTR NM_000371.3(TTR): c.270A> C (p.Lys90Asn) single nucleotide variant Pathogenic rs267607160 GRCh37 Chromosome 18, 29175152: 29175152
46 TTR NM_000371.3(TTR): c.270A> C (p.Lys90Asn) single nucleotide variant Pathogenic rs267607160 GRCh38 Chromosome 18, 31595189: 31595189
47 TTR NM_000371.3(TTR): c.88T> C (p.Cys30Arg) single nucleotide variant Likely pathogenic rs121918083 GRCh37 Chromosome 18, 29172877: 29172877
48 TTR NM_000371.3(TTR): c.88T> C (p.Cys30Arg) single nucleotide variant Likely pathogenic rs121918083 GRCh38 Chromosome 18, 31592914: 31592914
49 TTR NM_000371.3(TTR): c.272T> C (p.Val91Ala) single nucleotide variant Pathogenic rs121918084 GRCh37 Chromosome 18, 29175154: 29175154
50 TTR NM_000371.3(TTR): c.272T> C (p.Val91Ala) single nucleotide variant Pathogenic rs121918084 GRCh38 Chromosome 18, 31595191: 31595191

Expression for Amyloidosis, Hereditary, Transthyretin-Related

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

Pathways for Amyloidosis, Hereditary, Transthyretin-Related

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

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

GO Terms for Amyloidosis, Hereditary, Transthyretin-Related

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

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

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

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

Sources for Amyloidosis, Hereditary, Transthyretin-Related

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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34 ICD10 via Orphanet
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37 KEGG
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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