MCID: AMY005
MIFTS: 26

Amyloid Neuropathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Amyloid Neuropathy

MalaCards integrated aliases for Amyloid Neuropathy:

Name: Amyloid Neuropathy 50
Amyloid Neuropathies 69
Neuropathy Amyloid 50

Classifications:



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.

Related Diseases for Amyloid Neuropathy

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 amyloidosis, hereditary, transthyretin-related 11.3
2 lattice corneal dystrophy 10.8
3 carpal tunnel syndrome, familial 10.8
4 neuropathy 10.5
5 multiple myeloma 10.0
6 chronic inflammatory demyelinating polyneuropathy 9.7
7 polyneuropathy 9.7
8 demyelinating polyneuropathy 9.7
9 amyloidosis 9.7
10 tangier disease 9.6
11 hepatitis 9.6
12 liver disease 9.6
13 motor neuron disease 9.6
14 tabes dorsalis 9.6
15 autonomic neuropathy 9.6
16 diarrhea 9.6
17 poems syndrome 9.6
18 arthropathy 9.6
19 myopathy 9.6
20 axonal neuropathy 9.6
21 neuronitis 9.6
22 macroglobulinemia 9.6
23 light chain deposition disease 9.6
24 tremor 9.6
25 endotheliitis 9.6
26 myasthenic syndrome, congenital, 21, presynaptic 9.5 UCHL1 VIP
27 amyloidosis bronchopulmonary 8.6 TTR UCHL1 VIP

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 50)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diflunisal Approved 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 2 564-25-0 54671203
10
Tauroursodeoxycholic acid Approved, Investigational Phase 2 14605-22-2 12443252
11
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
12
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
13
Melphalan Approved Phase 2 148-82-3 4053 460612
14 Antiparkinson Agents Phase 1, Phase 2
15 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
16 Liver Extracts Phase 2
17 Anti-Bacterial Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Antimalarials Phase 2
20 Antiparasitic Agents Phase 2
21 Antiprotozoal Agents Phase 2
22 Antiviral Agents Phase 2
23 Cholagogues and Choleretics Phase 2
24 Gastrointestinal Agents Phase 2
25 Taurochenodeoxycholic Acid Phase 2
26 Alkylating Agents Phase 2
27 Angiogenesis Inhibitors Phase 2
28 Angiogenesis Modulating Agents Phase 2
29 Antiemetics Phase 2
30 Antineoplastic Agents, Hormonal Phase 2
31 Autonomic Agents Phase 2
32 BB 1101 Phase 2
33 Dexamethasone acetate Phase 2 1177-87-3
34 glucocorticoids Phase 2
35 Hormone Antagonists Phase 2
36 Hormones Phase 2
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
38 Immunosuppressive Agents Phase 2
39 Catechol Nutraceutical Phase 1, Phase 2
40
Ethanol Approved 64-17-5 702
41
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
42
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
43 Antibodies
44 Immunoglobulins
45 Vitamin B 12
46 Vitamin B Complex
47 Vitamins
48
Cobalamin Nutraceutical 13408-78-1 6438156
49
Methylcobalamin Experimental, Nutraceutical 13422-55-4
50 Vitamin B12 Nutraceutical

Interventional clinical trials:

(show all 28)

id Name Status NCT ID Phase Drugs
1 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3 tafamidis
2 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
3 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3 Fx-1006A;Placebo
4 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3 diflunisal
5 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)
6 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)
7 Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy Active, not recruiting NCT01737398 Phase 3 IONIS-TTR Rx;Placebo
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 Risk-adapted Therapy for Primary Systemic (AL) Amyloidosis Completed NCT01527032 Phase 2 melphalan, thalidomide and dexamethasone
16 A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects Active, not recruiting NCT02797847 Phase 1 ALN-TTRSC02;Sterile Normal Saline (0.9% NaCl)
17 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
18 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
19 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587 Diflunisal
20 Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy Recruiting NCT02713880
21 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy Recruiting NCT01705626
22 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
23 Screening for Hereditary Transthyretin Related Amyloidosis-an Nationales, Multicentre, Epidemiological Protocol Recruiting NCT03237494
24 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466
25 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
26 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Available NCT02939820 patisiran (ALN-TTR02)
27 Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology Not yet recruiting NCT03190577
28 Prevalence of Amyloidosis and Carpal Tunnel Not yet recruiting 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:

39
Liver, Skin, Tongue, Endothelial

Publications for Amyloid Neuropathy

Articles related to Amyloid Neuropathy:

(show top 50) (show all 75)
id 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
Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? ( 27422051 )
2016
4
Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal. ( 26831189 )
2016
5
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
6
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. ( 25819286 )
2015
7
Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. ( 25973863 )
2015
8
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. ( 27066555 )
2015
9
Hard to swallow: atypical transthyretin amyloid neuropathy mistaken for CIDP. ( 24692433 )
2014
10
Ultrasound evaluation in transthyretin-related amyloid neuropathy. ( 24395461 )
2014
11
Rare case of a localized radial nerve amyloid neuropathy. ( 25137512 )
2014
12
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. ( 22592564 )
2013
13
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. ( 24101130 )
2013
14
Current state of domino transplantation in Japan in terms of surgical procedures and de novo amyloid neuropathy. ( 22620971 )
2012
15
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. ( 22190302 )
2012
16
Familial amyloid neuropathy: Unusual etiology in clinical practice. ( 22954984 )
2012
17
AL amyloid neuropathy mimicking a chronic inflammatory demyelinating polyneuropathy. ( 22292918 )
2012
18
Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. ( 20937937 )
2011
19
Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan. ( 21739396 )
2011
20
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome. ( 21838451 )
2011
21
Amyloid neuropathy in a younger domino liver transplanted recipient. ( 21319169 )
2011
22
Usefulness of combined nerve and muscle biopsy in the diagnosis of amyloid neuropathy--a study of 6 new cases. ( 20175953 )
2010
23
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. ( 20697105 )
2010
24
Clinical and electrophysiological correlates of TTRala71 amyloid neuropathy. ( 20464304 )
2010
25
Progression of transthyretin amyloid neuropathy after liver transplantation. ( 20660862 )
2010
26
Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report. ( 20373457 )
2010
27
Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation. ( 20928908 )
2010
28
Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients. ( 19604387 )
2009
29
[Amyloid neuropathy resulting from an unknown protein]. ( 18584922 )
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
The molecular biology and clinical features of amyloid neuropathy. ( 17554795 )
2007
33
[Familial amyloid neuropathy associated with the Cys114 mutation of the transthyretin gene in a Russian family]. ( 18688962 )
2007
34
Urinary dysfunction and autonomic control in amyloid neuropathy. ( 16477499 )
2006
35
Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. ( 16889603 )
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:

id Super pathways Score Top Affiliating Genes
1 11.13 UCHL1 VIP

GO Terms for Amyloid Neuropathy

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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