MCID: AMY005
MIFTS: 28

Amyloid Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Amyloid Neuropathy

MalaCards integrated aliases for Amyloid Neuropathy:

Name: Amyloid Neuropathy 53
Amyloid Neuropathies 55 73
Neuropathy Amyloid 53

Classifications:



External Ids:

UMLS 73 C0206247

Summaries for Amyloid Neuropathy

MalaCards based summary : Amyloid Neuropathy, also known as amyloid neuropathies, is related to amyloidosis, hereditary, transthyretin-related and lattice corneal dystrophy, 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 Diflunisal and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and tongue, and related phenotype is cardiovascular system.

Related Diseases for Amyloid Neuropathy

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 11.6
2 lattice corneal dystrophy 11.1
3 carpal tunnel syndrome 11.1
4 neuropathy 10.7
5 myeloma, multiple 10.2
6 polyneuropathy 10.0
7 amyloidosis 10.0
8 chronic inflammatory demyelinating polyneuropathy 9.9
9 demyelinating polyneuropathy 9.9
10 tangier disease 9.7
11 liver disease 9.7
12 motor neuron disease 9.7
13 hereditary sensory neuropathy 9.7
14 tabes dorsalis 9.7
15 autonomic neuropathy 9.7
16 goiter 9.7
17 diarrhea 9.7
18 poems syndrome 9.7
19 arthropathy 9.7
20 myopathy 9.7
21 peripheral nervous system disease 9.7
22 axonal neuropathy 9.7
23 macroglobulinemia 9.7
24 light chain deposition disease 9.7
25 syphilitic myelopathy 9.7
26 tremor 9.7

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

MGI Mouse Phenotypes related to Amyloid Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 TTR UCHL1 VIP

Drugs & Therapeutics for Amyloid Neuropathy

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved, Investigational Phase 2, Phase 3 22494-42-4 3059
2 Analgesics Phase 2, Phase 3
3 Antirheumatic Agents Phase 2, Phase 3
4 Peripheral Nervous System Agents Phase 2, Phase 3
5 Analgesics, Non-Narcotic Phase 2, Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
7 Cyclooxygenase Inhibitors Phase 2, Phase 3
8 Anti-Inflammatory Agents Phase 2, Phase 3
9
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
10
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
11
Tauroursodeoxycholic acid Experimental, Investigational Phase 2 14605-22-2 12443252
12 Antiparkinson Agents Phase 1, Phase 2,Early Phase 1
13 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2,Early Phase 1
14 Catechol Phase 1, Phase 2,Early Phase 1
15 Liver Extracts Phase 2
16 Gastrointestinal Agents Phase 2
17 Antiparasitic Agents Phase 2
18 Antiprotozoal Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 Taurochenodeoxycholic Acid Phase 2
21 Antiviral Agents Phase 2
22 Antimalarials Phase 2
23 Cholagogues and Choleretics Phase 2
24 Anti-Infective Agents Phase 2
25
Ethanol Approved 64-17-5 702
26
Hydroxocobalamin Approved 13422-51-0 11953898 44475014
27
Methylcobalamin Approved, Experimental, Investigational 13422-55-4
28
Levodopa Approved Early Phase 1 59-92-7 6047
29
Carbidopa Approved Early Phase 1 28860-95-9 34359 38101
30
Curcumin Approved, Experimental, Investigational 458-37-7 969516
31
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
32
Cobalamin Experimental 13408-78-1 6438156
33 Antibodies
34 Vitamin B Complex
35 Vitamins
36 Immunoglobulins
37 Vitamin B 12
38 Vitamin B12
39 Tea

Interventional clinical trials:

(show all 35)
# 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 HELIOS-A: A Study of Vutrisiran (ALN-TTRSC02) in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Recruiting NCT03759379 Phase 3 Patisiran;Vutrisiran (ALN-TTRSC02)
9 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
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 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
12 The Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver Transplant Completed NCT02595983 Phase 2 Revusiran (ALN-TTRSC)
13 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
14 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
15 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2 Doxycycline;Ursodeoxycholic acid
16 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)
17 Prevalence of Amyloidosis and Carpal Tunnel Unknown status NCT02152644
18 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Approved for marketing NCT02939820 patisiran (ALN-TTR02)
19 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
20 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
21 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
22 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577 Not Applicable
23 Early and Systematic Screening in Chronic Neuropathy Recruiting NCT03720275 Not Applicable
24 Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy Recruiting NCT02713880
25 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy Recruiting NCT01705626
26 Short-term Effects of TOLCAPONE on Transthyretin Stability in Subjects With Leptomeningeal TTR Amyloidosis (ATTR) Recruiting NCT03591757 Early Phase 1 Tolcapone
27 Mitochondrial Function in Transthyretin Amyloidosis Recruiting NCT03328338
28 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
29 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
30 Screening for Hereditary Transthyretin Related Amyloidosis - an Internationales, Multicentre, Epidemiological Protocol Recruiting NCT03237494
31 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669 Not Applicable
32 Positron Emission Tomography / Magnetic Resonance Imaging in Aortic Stenosis Recruiting NCT03352089
33 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
34 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
35 Expanding the Biomarkers in Familial Amyloid Neuropathy: MRI and Motor Unit Estimation by Electrophysiological Study Not yet recruiting NCT03588468 Not Applicable

Search NIH Clinical Center for Amyloid Neuropathy

Genetic Tests for Amyloid Neuropathy

Anatomical Context for Amyloid Neuropathy

MalaCards organs/tissues related to Amyloid Neuropathy:

41
Liver, Skin, Tongue, Endothelial

Publications for Amyloid Neuropathy

Articles related to Amyloid Neuropathy:

(show top 50) (show all 82)
# Title Authors Year
1
Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy. ( 30193540 )
2018
2
Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a patient with familial amyloid neuropathy. ( 30215006 )
2018
3
Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. ( 28490654 )
2017
4
C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy. ( 28407005 )
2017
5
Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal. ( 26831189 )
2016
6
Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report. ( 27482195 )
2016
7
Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? ( 27422051 )
2016
8
Amyloidosis and its management: Amyloid neuropathies. ( 27979324 )
2016
9
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. ( 25819286 )
2015
10
Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. ( 25973863 )
2015
11
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. ( 27066555 )
2015
12
Rare case of a localized radial nerve amyloid neuropathy. ( 25137512 )
2014
13
Hard to swallow: atypical transthyretin amyloid neuropathy mistaken for CIDP. ( 24692433 )
2014
14
Ultrasound evaluation in transthyretin-related amyloid neuropathy. ( 24395461 )
2014
15
Current and future treatment of amyloid neuropathies. ( 25416603 )
2014
16
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. ( 22592564 )
2013
17
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. ( 24101130 )
2013
18
Familial amyloid neuropathy: Unusual etiology in clinical practice. ( 22954984 )
2012
19
Current state of domino transplantation in Japan in terms of surgical procedures and de novo amyloid neuropathy. ( 22620971 )
2012
20
AL amyloid neuropathy mimicking a chronic inflammatory demyelinating polyneuropathy. ( 22292918 )
2012
21
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. ( 22190302 )
2012
22
Amyloid neuropathies. ( 22941262 )
2012
23
Amyloid neuropathies. ( 23239211 )
2012
24
Amyloid neuropathy in a younger domino liver transplanted recipient. ( 21319169 )
2011
25
Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan. ( 21739396 )
2011
26
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome. ( 21838451 )
2011
27
Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. ( 20937937 )
2011
28
Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report. ( 20373457 )
2010
29
Clinical and electrophysiological correlates of TTRala71 amyloid neuropathy. ( 20464304 )
2010
30
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. ( 20697105 )
2010
31
Usefulness of combined nerve and muscle biopsy in the diagnosis of amyloid neuropathy--a study of 6 new cases. ( 20175953 )
2010
32
Progression of transthyretin amyloid neuropathy after liver transplantation. ( 20660862 )
2010
33
Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation. ( 20928908 )
2010
34
Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients. ( 19604387 )
2009
35
[Amyloid neuropathy resulting from an unknown protein]. ( 18584922 )
2009
36
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy. ( 18563718 )
2008
37
Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin. ( 18844793 )
2008
38
[Familial amyloid neuropathy associated with the Cys114 mutation of the transthyretin gene in a Russian family]. ( 18688962 )
2007
39
The molecular biology and clinical features of amyloid neuropathy. ( 17554795 )
2007
40
Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. ( 16889603 )
2006
41
Urinary dysfunction and autonomic control in amyloid neuropathy. ( 16477499 )
2006
42
Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies. ( 15574136 )
2004
43
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. ( 14627687 )
2003
44
Atypical presentations of primary amyloid neuropathy. ( 14639583 )
2003
45
Amyloid neuropathy presenting as thoraco-abdominal parathesia. ( 11882067 )
2002
46
Amyloid neuropathy: a peculiar form of peripheral neuropathy. ( 11346380 )
2001
47
Hereditary and acquired amyloid neuropathies. ( 11569892 )
2001
48
Complement activation in acquired and hereditary amyloid neuropathy. ( 11442169 )
2000
49
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. ( 10465115 )
1999
50
Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different. ( 10454728 )
1999

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 UCHL1 VIP

GO Terms for Amyloid Neuropathy

Biological processes related to Amyloid Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 8.62 TTR VIP

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 TTR VIP

Sources for Amyloid Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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