MCID: AMY005
MIFTS: 33

Amyloid Neuropathy malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Amyloid Neuropathy

Aliases & Descriptions for Amyloid Neuropathy:

Name: Amyloid Neuropathy 50
Amyloid Neuropathies 52 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 are Ca, cAMP and Lipid Signaling and FOXA2 and FOXA3 transcription factor networks. The drugs Ketamine and Diflunisal have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and endothelial, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Amyloid Neuropathy

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

(show all 40)
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 anaplastic ganglioglioma 10.0 APOA1 TTR
6 focal epithelial hyperplasia 10.0 APOA1 TTR
7 multiple myeloma 10.0
8 limited scleroderma 10.0 TTR VIP
9 arthrogryposis, lethal, with anterior horn cell disease 9.9 GSN TTR
10 cellulitis 9.9 GSN TTR
11 penis agenesis 9.9 GSN TTR
12 tooth agenesis, selective, 5 9.9 UCHL1 VIP
13 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 GSN TTR
14 body dysmorphic disorder 9.9 APOA1 TTR
15 white piedra 9.8 GSN TTR
16 hereditary lymphedema type ii 9.8 APOA1 GSN TTR
17 alopecia-mental retardation syndrome 3 9.8 APOA1 GSN TTR
18 van maldergem syndrome 2 9.8 APOA1 GSN TTR
19 hard palate cancer 9.8 APOA1 GSN TTR
20 demyelinating polyneuropathy 9.7
21 chronic inflammatory demyelinating polyneuropathy 9.7
22 amyloidosis 9.7
23 polyneuropathy 9.7
24 poems syndrome 9.6
25 arthropathy 9.6
26 myopathy 9.6
27 tangier disease 9.6
28 axonal neuropathy 9.6
29 neuronitis 9.6
30 macroglobulinemia 9.6
31 hepatitis 9.6
32 liver disease 9.6
33 light chain deposition disease 9.6
34 motor neuron disease 9.6
35 tremor 9.6
36 tabes dorsalis 9.6
37 endotheliitis 9.6
38 autonomic neuropathy 9.6
39 diarrhea 9.6
40 anaplastic ependymoma 9.3 APOA1 GSN 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

MGI Mouse Phenotypes related to Amyloid Neuropathy:

44
id 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 top 50) (show all 73)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
2
Diflunisal Approved Phase 2, Phase 3 22494-42-4 3059
3 Analgesics Phase 3,Phase 2
4 Neurotransmitter Agents Phase 3,Phase 2
5 Anesthetics Phase 3
6 Anesthetics, Dissociative Phase 3
7 Anesthetics, General Phase 3
8 Anesthetics, Intravenous Phase 3
9 Peripheral Nervous System Agents Phase 3,Phase 2
10 Excitatory Amino Acid Antagonists Phase 3
11 Excitatory Amino Acids Phase 3
12 Central Nervous System Depressants Phase 3
13 Cyclooxygenase Inhibitors Phase 2, Phase 3
14 Analgesics, Non-Narcotic Phase 2, Phase 3
15 Anti-Inflammatory Agents Phase 2, Phase 3
16 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
21
Tauroursodeoxycholic acid Approved, Investigational Phase 2 14605-22-2 12443252
22
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
23
Vinblastine Approved Phase 2 865-21-4 13342 241903
24
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
25
Gemcitabine Approved Phase 2 95058-81-4 60750
26 Ixazomib Approved Phase 2 1072833-77-2
27
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
28 Dexamethasone acetate Phase 2 1177-87-3
29 Alkylating Agents Phase 2
30 glucocorticoids Phase 2
31 Cholagogues and Choleretics Phase 2
32 Gastrointestinal Agents Phase 2
33 Taurochenodeoxycholic Acid Phase 2
34 Hormone Antagonists Phase 2
35 Dexamethasone 21-phosphate Phase 2
36 Hormones Phase 2
37 Angiogenesis Inhibitors Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
39 Angiogenesis Modulating Agents Phase 2
40 Anti-Bacterial Agents Phase 2
41 Anti-Infective Agents Phase 2
42 Immunosuppressive Agents Phase 2
43 Antiemetics Phase 2
44 Antimalarials Phase 2
45 Liver Extracts Phase 2
46 Antineoplastic Agents, Alkylating Phase 2
47 BB 1101 Phase 2
48 Autonomic Agents Phase 2
49 Antineoplastic Agents, Hormonal Phase 2
50 Antiviral Agents Phase 2

Interventional clinical trials:

(show all 32)
id Name Status NCT ID Phase
1 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
2 The Effect Of Tafamidis For The Transthyretin Amyloid Polyneuropathy Patients With V30M Or Non-V30M Transthyretin Completed NCT01435655 Phase 3
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
4 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3
5 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3
6 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3
7 Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy Active, not recruiting NCT01737398 Phase 3
8 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Active, not recruiting NCT01960348 Phase 3
9 Open-Label Extension Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP) Enrolling by invitation NCT02175004 Phase 3
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
11 Study of SOM0226 in Familial Amyloid Polyneuropathy Completed NCT02191826 Phase 1, Phase 2
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
13 Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin Amyloidosis Completed NCT01171859 Phase 2
14 The Effects of Fx-1006A on Transthyretin Stabilization and Clinical Outcome Measures in Patients With Non-V30M Transthyretin Amyloidosis Completed NCT00630864 Phase 2
15 Safety and Efficacy Study of Doxycycline/UrsoDeoxyCholicAcid on Disease Progression in ATTR Amyloidosis Completed NCT02016365 Phase 2
16 Risk-adapted Therapy for Primary Systemic (AL) Amyloidosis Completed NCT01527032 Phase 2
17 Vinorelbine and Gemcitabine in Myeloma Recruiting NCT02791373 Phase 2
18 Ixazomib Rollover Study Recruiting NCT02924272 Phase 2
19 The PRONTO Study, a Global Phase 2b Study of NEOD001 in Previously Treated Subjects With Light Chain (AL) Amyloidosis Active, not recruiting NCT02632786 Phase 2
20 Study in Subjects With Light Chain (AL) Amyloidosis Not yet recruiting NCT03154047 Phase 2
21 A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects Active, not recruiting NCT02797847 Phase 1
22 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
23 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
24 The Effect of Diflunisal on Familial Transthyretin Amyloidosis Completed NCT01432587
25 Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy Recruiting NCT02713880
26 Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy Recruiting NCT01705626
27 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
28 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Recruiting NCT02792790
29 Prevalence and Post-surgical Outcomes of CARdiac Wild-type TransthyrEtin amyloidoSIs in Elderly Patients With Aortic steNosis Referred for Valvular Replacement. Recruiting NCT02260466
30 Carpal Tunnel/Amyloidosis Blood Sample Study Recruiting NCT02587728
31 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Available NCT02939820
32 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, Endothelial, Tongue

Publications for Amyloid Neuropathy

Articles related to Amyloid Neuropathy:

(show top 50) (show all 73)
id Title Authors Year
1
Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox? ( 27422051 )
2016
2
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
3
Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal. ( 26831189 )
2016
4
Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. ( 25973863 )
2015
5
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. ( 27066555 )
2015
6
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. ( 25819286 )
2015
7
Hard to swallow: atypical transthyretin amyloid neuropathy mistaken for CIDP. ( 24692433 )
2014
8
Rare case of a localized radial nerve amyloid neuropathy. ( 25137512 )
2014
9
Ultrasound evaluation in transthyretin-related amyloid neuropathy. ( 24395461 )
2014
10
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. ( 24101130 )
2013
11
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. ( 22592564 )
2013
12
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. ( 22190302 )
2012
13
Familial amyloid neuropathy: Unusual etiology in clinical practice. ( 22954984 )
2012
14
AL amyloid neuropathy mimicking a chronic inflammatory demyelinating polyneuropathy. ( 22292918 )
2012
15
Current state of domino transplantation in Japan in terms of surgical procedures and de novo amyloid neuropathy. ( 22620971 )
2012
16
Amyloid neuropathy in a younger domino liver transplanted recipient. ( 21319169 )
2011
17
Serum vascular endothelial growth factor (VEGF) in the differential diagnosis of amyloid neuropathy and POEMS syndrome. ( 21838451 )
2011
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
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. ( 20697105 )
2010
21
Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report. ( 20373457 )
2010
22
Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation. ( 20928908 )
2010
23
Progression of transthyretin amyloid neuropathy after liver transplantation. ( 20660862 )
2010
24
Clinical and electrophysiological correlates of TTRala71 amyloid neuropathy. ( 20464304 )
2010
25
Usefulness of combined nerve and muscle biopsy in the diagnosis of amyloid neuropathy--a study of 6 new cases. ( 20175953 )
2010
26
Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients. ( 19604387 )
2009
27
[Amyloid neuropathy resulting from an unknown protein]. ( 18584922 )
2009
28
Hereditary amyloid neuropathy by transthyretin Val107 mutation in a patient of African origin. ( 18844793 )
2008
29
Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy. ( 18563718 )
2008
30
The molecular biology and clinical features of amyloid neuropathy. ( 17554795 )
2007
31
[Familial amyloid neuropathy associated with the Cys114 mutation of the transthyretin gene in a Russian family]. ( 18688962 )
2007
32
Urinary dysfunction and autonomic control in amyloid neuropathy. ( 16477499 )
2006
33
Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. ( 16889603 )
2006
34
Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies. ( 15574136 )
2004
35
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. ( 14627687 )
2003
36
Atypical presentations of primary amyloid neuropathy. ( 14639583 )
2003
37
Amyloid neuropathy presenting as thoraco-abdominal parathesia. ( 11882067 )
2002
38
Amyloid neuropathy: a peculiar form of peripheral neuropathy. ( 11346380 )
2001
39
Complement activation in acquired and hereditary amyloid neuropathy. ( 11442169 )
2000
40
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. ( 10465115 )
1999
41
Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different. ( 10454728 )
1999
42
Amyloid neuropathy simulating lower motor neuron disease. ( 9710046 )
1998
43
Light chain deposition disease neuropathy resembling amyloid neuropathy in a multiple myeloma patient. ( 10933463 )
1998
44
Ultrastructural immunolabelling of amyloid fibrils in acquired and hereditary amyloid neuropathies. ( 8869389 )
1996
45
Transthyretin gene mutations in British and French patients with amyloid neuropathy. ( 8509786 )
1993
46
Immunoassay for transthyretin variants associated with amyloid neuropathy. ( 8394031 )
1993
47
[Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. ( 1338934 )
1992
48
Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy. ( 1321563 )
1992
49
Comment on amyloid neuropathy in light chain multiple myeloma. ( 2515930 )
1989
50
Molecular genetics of amyloid neuropathy in Europe. ( 2566762 )
1989

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 11.05 APOA1 GSN
2 10.27 APOA1 TTR

GO Terms for Amyloid Neuropathy

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

id 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:

id 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:

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....