MCID: AMY005
MIFTS: 27

Amyloid Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Amyloid Neuropathy

MalaCards integrated aliases for Amyloid Neuropathy:

Name: Amyloid Neuropathy 52
Amyloid Neuropathies 54 71
Neuropathy Amyloid 52

Classifications:



External Ids:

UMLS 71 C0206247

Summaries for Amyloid Neuropathy

MalaCards based summary : Amyloid Neuropathy, also known as amyloid neuropathies, is related to peripheral nervous system disease and amyloidosis, hereditary, transthyretin-related, and has symptoms including neuralgia An important gene associated with Amyloid Neuropathy is TTR (Transthyretin), and among its related pathways/superpathways is Neuroscience. The drugs Anti-Inflammatory Agents and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone.

Related Diseases for Amyloid Neuropathy

Diseases related to Amyloid Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 peripheral nervous system disease 29.6 UCHL1 TTR
2 amyloidosis, hereditary, transthyretin-related 12.1
3 lattice corneal dystrophy 11.6
4 carpal tunnel syndrome 11.6
5 neuropathy 10.8
6 amyloidosis 10.6
7 polyneuropathy 10.6
8 myeloma, multiple 10.3
9 autonomic neuropathy 10.3
10 hereditary transthyretin amyloidosis 10.2
11 sensory peripheral neuropathy 10.1
12 autonomic dysfunction 10.1
13 erythermalgia, primary 10.1
14 demyelinating polyneuropathy 10.1
15 hereditary amyloidosis 10.1
16 pure autonomic failure 10.1
17 chronic inflammatory demyelinating polyradiculoneuropathy 10.0
18 macroglobulinemia 10.0
19 diarrhea 9.9
20 axonal neuropathy 9.9
21 amyloidosis, finnish type 9.8
22 amyotrophic lateral sclerosis 1 9.8
23 charcot-marie-tooth disease, demyelinating, type 1b 9.8
24 huntington disease 9.8
25 macroglossia 9.8
26 facioscapulohumeral muscular dystrophy 1 9.8
27 neurofibromatosis, type iv, of riccardi 9.8
28 tangier disease 9.8
29 achalasia-addisonianism-alacrima syndrome 9.8
30 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
31 ocular motor apraxia 9.8
32 tay-sachs disease 9.8
33 orthostatic intolerance 9.8
34 hereditary sensory neuropathy 9.8
35 lymphoproliferative syndrome 9.8
36 tabes dorsalis 9.8
37 osteonecrosis 9.8
38 charcot-marie-tooth disease 9.8
39 tooth disease 9.8
40 autonomic nervous system disease 9.8
41 mononeuropathy 9.8
42 ischemic neuropathy 9.8
43 primary biliary cirrhosis 9.8
44 hepatic coma 9.8
45 keratoconjunctivitis sicca 9.8
46 poems syndrome 9.8
47 neuritis 9.8
48 lateral sclerosis 9.8
49 motor neuron disease 9.8
50 corneal dystrophy 9.8

Graphical network of the top 20 diseases related to Amyloid Neuropathy:



Diseases related to Amyloid Neuropathy

Symptoms & Phenotypes for Amyloid Neuropathy

UMLS symptoms related to Amyloid Neuropathy:


neuralgia

Drugs & Therapeutics for Amyloid Neuropathy

Drugs for Amyloid Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Inflammatory Agents Phase 2, Phase 3
2 Analgesics, Non-Narcotic Phase 2, Phase 3
3 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
4 Cyclooxygenase Inhibitors Phase 2, Phase 3
5 Antirheumatic Agents Phase 2, Phase 3
6 Analgesics Phase 2, Phase 3
7
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
8
Tauroursodeoxycholic acid Experimental, Investigational Phase 2 14605-22-2 12443252
9
Taurochenodeoxycholic acid Experimental Phase 2 516-35-8 387316
10 Liver Extracts Phase 2
11 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
12 Catechol Phase 1, Phase 2
13 Antiparkinson Agents Phase 1, Phase 2
14 Anti-Infective Agents Phase 2
15 Gastrointestinal Agents Phase 2
16 Antiparasitic Agents Phase 2
17 Antiprotozoal Agents Phase 2
18 Cholagogues and Choleretics Phase 2
19 Antiviral Agents Phase 2
20 Antimalarials Phase 2
21 Anti-Bacterial Agents Phase 2
22
Diflunisal Approved, Investigational 22494-42-4 3059
23
Curcumin Approved, Experimental, Investigational 458-37-7 969516
24
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
25
Threonine Approved, Nutraceutical 72-19-5 6288
26
Valine Approved, Nutraceutical 72-18-4 6287
27 Tea
28
L-Alanine Nutraceutical 56-41-7 5950
29
Isoleucine Investigational, Nutraceutical 73-32-5, 443-79-8 6306

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
2 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
3 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)
4 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)
5 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
6 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
7 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
8 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
9 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) Recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
10 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)
11 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
12 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
13 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
14 Study of SOM0226 in Familial Amyloid Polyneuropathy (FAP) Patients and Asymptomatic Carriers to Evaluate Protein Stabilization Activity Completed NCT02191826 Phase 1, Phase 2 SOM0226
15 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
16 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)
17 Expanded Access Protocol of Patisiran for Patients With Hereditary Transthyretin-Mediated Amyloidosis (hATTR Amyloidosis) With Polyneuropathy Approved for marketing NCT02939820 patisiran (ALN-TTR02)
18 Cross-sectional, Non-interventional Burden Of Disease (Bod) Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (Ttr-fap) Or Transthyretin Cardiomyopathy (ttr-cm) And Caregivers Completed NCT01604122
19 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577
20 Evaluation of a New Diagnostic Approach to Familial Amyloid Neuropathy by Mutation of the TTR Gene in a Population of Idiopathic Chronic Neuropathies Recruiting NCT03720275
21 A Phase 4 Multicenter Observational Study to Evaluate the Effectiveness of Patisiran in Patients With Polyneuropathy of Hereditary Transthyretin-Mediated (hATTR) Amyloidosis With a V122I or T60A Mutation Recruiting NCT04201418 Patisiran
22 PREVALENCE AND CHARACTERISTICS OF TRANSTHYRETIN AMYLOIDOSIS IN PATIENTS WITH LEFT VENTRICULAR HYPERTROPHY OF UNKNOWN ETIOLOGY TTRACK Recruiting NCT03842163
23 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
24 Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy - An International, Multicenter, Epidemiological Protocol Recruiting NCT02713880
25 TTR Screening - Screening for Hereditary Transthyretin Related Amyloidosis - an Internationales, Multicentre, Epidemiological Protocol Recruiting NCT03237494
26 TTR-FAP Screening - Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy - a International, Multicentre, Epidemiological Protocol Recruiting NCT01705626
27 Expanding the Biomarkers in Familial Amyloid Neuropathy: Magnetic Resonance Imaging (MRI) and Motor Unit Estimation by Electrophysiological Study Not yet recruiting NCT03588468
28 Prevalence of Amyloidosis in Carpal Tunnel Surgery Withdrawn NCT02152644

Search NIH Clinical Center for Amyloid Neuropathy

Genetic Tests for Amyloid Neuropathy

Anatomical Context for Amyloid Neuropathy

MalaCards organs/tissues related to Amyloid Neuropathy:

40
Liver, Skin, Bone, Testes, Bone Marrow, Brain, Retina

Publications for Amyloid Neuropathy

Articles related to Amyloid Neuropathy:

(show top 50) (show all 197)
# Title Authors PMID Year
1
Phenotypes of Late-Onset Transthyretin Amyloid Neuropathy: A Diagnostic Challenge. 61
31453848 2019
2
Diagnosis of amyloid neuropathy. 61
30598431 2019
3
Skin nerve pathology: Biomarkers of premanifest and manifest amyloid neuropathy. 61
30737830 2019
4
Combined heart and liver transplantation: State of knowledge and outlooks. 61
30635235 2019
5
Transthyretin Amyloid Neuropathy: The Schwann Cell Hypothesis. 61
31760657 2019
6
Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy. 61
30193540 2018
7
The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: An ultrastructural study. 61
30243104 2018
8
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis. 61
30198232 2018
9
Nerve and skin biopsy in neuropathies. 61
30080717 2018
10
Refractory Pain Management in Amyloid-Associated Peripheral Neuropathy. 61
29346227 2018
11
Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis. 61
29401357 2018
12
Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a patient with familial amyloid neuropathy. 61
30215006 2018
13
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. 61
28902413 2017
14
Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. 61
28598015 2017
15
Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. 61
28490654 2017
16
C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy. 61
28407005 2017
17
Autonomic Neuropathy and Albuminocytologic Dissociation in Cerebrospinal Fluid As the Presenting Features of Primary Amyloidosis: A Case Report. 61
28798722 2017
18
Iatrogenic amyloid polyneuropathy after domino liver transplantation. 61
28217248 2017
19
Computing Individual Risks Based on Family History in Genetic Disease in the Presence of Competing Risks. 61
29312466 2017
20
Review of the literature: Articles published in the last five years that have changed my daily practice. 61
27866733 2016
21
Hereditary neuropathies: An update. 61
27866730 2016
22
Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? 61
27422051 2016
23
Amyloidosis and its management: Amyloid neuropathies. 61
27979324 2016
24
Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report. 61
27482195 2016
25
Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal. 61
26831189 2016
26
Cardiac Involvement in Peripheral Neuropathies. 61
26905912 2016
27
Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures. 61
27570551 2016
28
Diagnosis of small fiber neuropathy: A comparative study of five neurophysiological tests. 61
26596193 2015
29
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. 61
27066555 2015
30
Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. 61
25973863 2015
31
Neuromuscular issues in systemic disease. 61
26008813 2015
32
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. 61
25819286 2015
33
Current and future treatment of amyloid neuropathies. 61
25416603 2014
34
A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report. 61
25471118 2014
35
Charcot-Marie-Tooth disease and other inherited neuropathies. 61
25299278 2014
36
Hard to swallow: atypical transthyretin amyloid neuropathy mistaken for CIDP. 61
24692433 2014
37
[Amyloidoses]. 61
25510121 2014
38
Rare case of a localized radial nerve amyloid neuropathy. 61
25137512 2014
39
Ultrasound evaluation in transthyretin-related amyloid neuropathy. 61
24395461 2014
40
[Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy]. 61
25672679 2014
41
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. 61
24101130 2013
42
[Current issues in hereditary neuropathies]. 61
24230477 2013
43
[Identification of transthyretin posttranslational modifications 1n human blood using mass-spectrometric methods]. 61
25509863 2013
44
Reversibility of acquired amyloid polyneuropathy after liver retransplantation. 61
23915219 2013
45
North America and South America (NA-SA) neuropathy project. 61
23461611 2013
46
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. 61
22592564 2013
47
Amyloid fibril protein nomenclature: 2012 recommendations from the Nomenclature Committee of the International Society of Amyloidosis. 61
23113696 2012
48
Amyloid neuropathies. 61
23239211 2012
49
Amyloid neuropathies. 61
22941262 2012
50
Familial amyloid neuropathy: Unusual etiology in clinical practice. 61
22954984 2012

Variations for Amyloid Neuropathy

Expression for Amyloid Neuropathy

Search GEO for disease gene expression data for Amyloid Neuropathy.

Pathways for Amyloid Neuropathy

Pathways related to Amyloid Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 VIP UCHL1

GO Terms for Amyloid Neuropathy

Molecular functions related to Amyloid Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 VIP TTR

Sources for Amyloid Neuropathy

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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