MCID: AMY005
MIFTS: 36

Amyloid Neuropathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Amyloid Neuropathy

MalaCards integrated aliases for Amyloid Neuropathy:

Name: Amyloid Neuropathy 49
Amyloid Neuropathies 51 69
Neuropathy Amyloid 49

Classifications:



External Ids:

UMLS 69 C0206247

Summaries for Amyloid Neuropathy

MalaCards based summary : Amyloid Neuropathy, also known as amyloid neuropathies, is related to amyloidosis, hereditary, transthyretin-related and polyneuropathy, and has symptoms including neuralgia An important gene associated with Amyloid Neuropathy is TTR (Transthyretin), and among its related pathways/superpathways are Metabolism of proteins and Ca, cAMP and Lipid Signaling. The drugs Diflunisal and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and tongue, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Amyloid Neuropathy

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 APOA1 GSN UCHL1 VIP
2 homeostasis/metabolism MP:0005376 9.02 APOA1 GSN TTR UCHL1 VIP

Drugs & Therapeutics for Amyloid Neuropathy

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

(show all 35)
# 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 Cyclooxygenase Inhibitors Phase 2, Phase 3
4 Analgesics, Non-Narcotic Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6 Anti-Inflammatory Agents Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
10
Tauroursodeoxycholic acid Approved, Investigational Phase 2 14605-22-2 12443252
11
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
12 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
13 Cholagogues and Choleretics Phase 2
14 Taurochenodeoxycholic Acid Phase 2
15 Gastrointestinal Agents Phase 2
16 Anti-Bacterial Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Antimalarials Phase 2
19 Liver Extracts Phase 2
20 Antiprotozoal Agents Phase 2
21 Antiparasitic Agents Phase 2
22 Antiparkinson Agents Phase 1, Phase 2
23 Antiviral Agents Phase 2
24 Catechol Nutraceutical Phase 1, Phase 2
25
Ethanol Approved 64-17-5 702
26
Hydroxocobalamin Approved 13422-51-0 5460373 44475014 11953898
27
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical 13422-55-4
28
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
29 Vitamin B 12
30 Vitamin B Complex
31 Vitamins
32 Immunoglobulins
33 Antibodies
34 Vitamin B12 Nutraceutical
35
Cobalamin Nutraceutical 13408-78-1 6438156

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy Completed NCT01737398 Phase 3 IONIS-TTR Rx;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 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)
10 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2 SOM0226
11 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)
12 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2 Doxycycline + Tauroursodeoxycholic acid
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 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)
16 Prevalence of Amyloidosis and Carpal Tunnel Unknown status NCT02152644
17 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
18 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
19 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Completed NCT01623245
20 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Recruiting NCT03190577
21 Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy Recruiting NCT02713880
22 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy Recruiting NCT01705626
23 Monitoring of Early Disease Progression in Hereditary Transthyretin Amyloidosis Recruiting NCT03431896
24 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
25 Screening for Hereditary Transthyretin Related Amyloidosis-an Nationales, Multicentre, Epidemiological Protocol Recruiting NCT03237494
26 A Pilot Study of Small Fiber Neuropathy Prevalence in Fibromyalgia Patients Compared to Healthy Subjects Using Sudoscan® Recruiting NCT03347669
27 Positron Emission Tomography / Magnetic Resonance Imaging in Aortic Stenosis Recruiting NCT03352089
28 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466
29 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
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

Search NIH Clinical Center for Amyloid Neuropathy

Genetic Tests for Amyloid Neuropathy

Anatomical Context for Amyloid Neuropathy

MalaCards organs/tissues related to Amyloid Neuropathy:

38
Liver, Skin, Tongue, Endothelial

Publications for Amyloid Neuropathy

Articles related to Amyloid Neuropathy:

(show top 50) (show all 75)
# Title Authors Year
1
C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy. ( 28407005 )
2017
2
Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. ( 28490654 )
2017
3
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
4
Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal. ( 26831189 )
2016
5
Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? ( 27422051 )
2016
6
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. ( 27066555 )
2015
7
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. ( 25819286 )
2015
8
Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. ( 25973863 )
2015
9
Rare case of a localized radial nerve amyloid neuropathy. ( 25137512 )
2014
10
Hard to swallow: atypical transthyretin amyloid neuropathy mistaken for CIDP. ( 24692433 )
2014
11
Ultrasound evaluation in transthyretin-related amyloid neuropathy. ( 24395461 )
2014
12
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. ( 24101130 )
2013
13
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. ( 22592564 )
2013
14
Familial amyloid neuropathy: Unusual etiology in clinical practice. ( 22954984 )
2012
15
AL amyloid neuropathy mimicking a chronic inflammatory demyelinating polyneuropathy. ( 22292918 )
2012
16
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. ( 22190302 )
2012
17
Current state of domino transplantation in Japan in terms of surgical procedures and de novo amyloid neuropathy. ( 22620971 )
2012
18
Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. ( 20937937 )
2011
19
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome. ( 21838451 )
2011
20
Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan. ( 21739396 )
2011
21
Amyloid neuropathy in a younger domino liver transplanted recipient. ( 21319169 )
2011
22
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. ( 20697105 )
2010
23
Usefulness of combined nerve and muscle biopsy in the diagnosis of amyloid neuropathy--a study of 6 new cases. ( 20175953 )
2010
24
Progression of transthyretin amyloid neuropathy after liver transplantation. ( 20660862 )
2010
25
Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report. ( 20373457 )
2010
26
Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation. ( 20928908 )
2010
27
Clinical and electrophysiological correlates of TTRala71 amyloid neuropathy. ( 20464304 )
2010
28
[Amyloid neuropathy resulting from an unknown protein]. ( 18584922 )
2009
29
Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients. ( 19604387 )
2009
30
Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin. ( 18844793 )
2008
31
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy. ( 18563718 )
2008
32
[Familial amyloid neuropathy associated with the Cys114 mutation of the transthyretin gene in a Russian family]. ( 18688962 )
2007
33
The molecular biology and clinical features of amyloid neuropathy. ( 17554795 )
2007
34
Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. ( 16889603 )
2006
35
Urinary dysfunction and autonomic control in amyloid neuropathy. ( 16477499 )
2006
36
Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies. ( 15574136 )
2004
37
Atypical presentations of primary amyloid neuropathy. ( 14639583 )
2003
38
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. ( 14627687 )
2003
39
Amyloid neuropathy presenting as thoraco-abdominal parathesia. ( 11882067 )
2002
40
Amyloid neuropathy: a peculiar form of peripheral neuropathy. ( 11346380 )
2001
41
Complement activation in acquired and hereditary amyloid neuropathy. ( 11442169 )
2000
42
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. ( 10465115 )
1999
43
Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different. ( 10454728 )
1999
44
Light chain deposition disease neuropathy resembling amyloid neuropathy in a multiple myeloma patient. ( 10933463 )
1998
45
Amyloid neuropathy simulating lower motor neuron disease. ( 9710046 )
1998
46
Ultrastructural immunolabelling of amyloid fibrils in acquired and hereditary amyloid neuropathies. ( 8869389 )
1996
47
Transthyretin gene mutations in British and French patients with amyloid neuropathy. ( 8509786 )
1993
48
Immunoassay for transthyretin variants associated with amyloid neuropathy. ( 8394031 )
1993
49
Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy. ( 1321563 )
1992
50
[Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. ( 1338934 )
1992

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
Show member pathways
12.88 APOA1 GSN TTR UCHL1
2 11.06 APOA1 GSN
3 10.27 APOA1 TTR

GO Terms for Amyloid Neuropathy

Cellular components related to Amyloid Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.46 APOA1 GSN TTR VIP
2 blood microparticle GO:0072562 9.26 APOA1 GSN
3 myelin sheath GO:0043209 8.96 GSN UCHL1
4 secretory granule lumen GO:0034774 8.62 APOA1 GSN

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 8.96 APOA1 TTR
2 cellular protein metabolic process GO:0044267 8.8 APOA1 GSN TTR

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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