MCID: WLD006
MIFTS: 29

Wild Type Abeta2m Amyloidosis

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Wild Type Abeta2m Amyloidosis

MalaCards integrated aliases for Wild Type Abeta2m Amyloidosis:

Name: Wild Type Abeta2m Amyloidosis 58
Wild Type Abeta2-Microglobulinic Amyloidosis 58
Dialysis-Related Amyloidosis 58
Dialysis-Related Arthropathy 58
Abeta2mwt Amyloidosis 58

Characteristics:


Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Adult 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Wild Type Abeta2m Amyloidosis

Orphanet: 58 A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.

MalaCards based summary: Wild Type Abeta2m Amyloidosis, also known as wild type abeta2-microglobulinic amyloidosis, is related to dialysis-related amyloidosis and amyloidosis. The drug Carbamide peroxide has been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are arthritis and neck pain

Related Diseases for Wild Type Abeta2m Amyloidosis

Diseases related to Wild Type Abeta2m Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 dialysis-related amyloidosis 11.7
2 amyloidosis 11.1
3 carpal tunnel syndrome 10.7
4 mononeuropathy of the median nerve, mild 10.7
5 arthropathy 10.5
6 spondyloarthropathy 10.5
7 osteoarthritis 10.4
8 chronic kidney disease 10.4
9 end stage renal disease 10.4
10 uremia 10.3
11 macroglossia 10.1
12 rheumatoid arthritis 10.1
13 microvascular complications of diabetes 1 10.1
14 malaria 10.1
15 microvascular complications of diabetes 2 10.1
16 microvascular complications of diabetes 3 10.1
17 microvascular complications of diabetes 4 10.1
18 microvascular complications of diabetes 5 10.1
19 microvascular complications of diabetes 6 10.1
20 microvascular complications of diabetes 7 10.1
21 intestinal pseudo-obstruction 10.1
22 spinal stenosis 10.1
23 49, xxxxy syndrome 10.1
24 enthesopathy 10.0
25 tenosynovitis 10.0
26 chronic pain 10.0
27 amyloidosis, hereditary, transthyretin-related 9.9
28 amyotrophic lateral sclerosis 1 9.9
29 cone-rod dystrophy 2 9.9
30 hand skill, relative 9.9
31 renal cell carcinoma, nonpapillary 9.9
32 nephrolithiasis, calcium oxalate 9.9
33 proteasome-associated autoinflammatory syndrome 1 9.9
34 tendinopathy 9.9
35 ischemic colitis 9.9
36 bone disease 9.9
37 renal hypoplasia 9.9
38 esophagitis 9.9
39 hyperparathyroidism 9.9
40 polyneuropathy 9.9
41 spondylosis 9.9
42 lateral sclerosis 9.9
43 synovitis 9.9
44 glomerulonephritis 9.9
45 periarthritis 9.9
46 anuria 9.9
47 gastric dilatation 9.9
48 hyperglycemia 9.9
49 collecting duct carcinoma 9.9
50 kidney disease 9.9

Graphical network of the top 20 diseases related to Wild Type Abeta2m Amyloidosis:



Diseases related to Wild Type Abeta2m Amyloidosis

Symptoms & Phenotypes for Wild Type Abeta2m Amyloidosis

Human phenotypes related to Wild Type Abeta2m Amyloidosis:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001369
2 neck pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030833
3 shoulder pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030834
4 decreased nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000762
5 paresthesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003401
6 bone cyst 58 30 Frequent (33%) Frequent (79-30%)
HP:0012062
7 constrictive median neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0012185
8 dysesthesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0012534
9 abnormality of the thenar eminence 58 30 Frequent (33%) Frequent (79-30%)
HP:0001227
10 axonal loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0003447
11 decreased amplitude of sensory action potentials 58 30 Frequent (33%) Frequent (79-30%)
HP:0007078
12 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
13 macroglossia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000158
14 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
15 arthropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003040
16 abnormality of the vertebral endplates 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005106
17 abnormal intervertebral disk morphology 30 Occasional (7.5%) HP:0005108
18 tetraplegia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002445
19 congestive heart failure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001635
20 arrhythmia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011675
21 abnormal tendon morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100261
22 tetraparesis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002273
23 intestinal pseudo-obstruction 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004389
24 abnormal shoulder morphology 30 Very rare (1%) HP:0003043
25 abnormality of the shoulder 58 Very rare (<4-1%)
26 abnormality of the intervertebral disk 58 Occasional (29-5%)
27 abnormal intestine morphology 58 Occasional (29-5%)
28 pain 58 Frequent (79-30%)

Drugs & Therapeutics for Wild Type Abeta2m Amyloidosis

Drugs for Wild Type Abeta2m Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamide peroxide Approved 124-43-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Dialysis-Related Amyloidosis Using Lixelle® β2-microglobulin Apheresis Column Unknown status NCT02952144

Search NIH Clinical Center for Wild Type Abeta2m Amyloidosis

Genetic Tests for Wild Type Abeta2m Amyloidosis

Anatomical Context for Wild Type Abeta2m Amyloidosis

Organs/tissues related to Wild Type Abeta2m Amyloidosis:

MalaCards : Bone, Kidney, Heart, Spinal Cord, Tongue, Whole Blood, Brain

Publications for Wild Type Abeta2m Amyloidosis

Articles related to Wild Type Abeta2m Amyloidosis:

(show top 50) (show all 520)
# Title Authors PMID Year
1
Macromolecular crowding and supersaturation protect hemodialysis patients from the onset of dialysis-related amyloidosis. 62
36192385 2022
2
Dimers of D76N-β2-microglobulin display potent antiamyloid aggregation activity. 62
36328246 2022
3
Carpal tunnel release under wide awake local anesthesia with no tourniquet in hemodialysis patients with arteriovenous shunt. 62
36126869 2022
4
Lifting the Veil: Characteristics, Clinical Significance, and Application of β-2-Microglobulin as Biomarkers and Its Detection with Biosensors. 62
35848712 2022
5
Molecular Insights into the Inhibition of Dialysis-Related β2m Amyloidosis Orchestrated by a Bispidine Peptidomimetic Analogue. 62
35749234 2022
6
Hemodialysis-Related Amyloidosis in the Tongue. 62
35634459 2022
7
Inflammasome assembly is required for intracellular formation of β2-microglobulin amyloid fibrils, leading to IL-1β secretion. 62
35615856 2022
8
The residues 4 to 6 at the N-terminus in particular modulate fibril propagation of β-microglobulin. 62
35130623 2022
9
Dialysis-related Amyloidosis Cervical Vertebral Body Destruction and Cord Compression. 62
34698567 2022
10
Pathogenic D76N Variant of β2-Microglobulin: Synergy of Diverse Effects in Both the Native and Amyloid States. 62
34827190 2021
11
Severe Dialysis-Related Amyloidosis Spared the Brain: An Autopsy Case of a Patient Receiving Hemodialysis for 41 Years. 62
33779708 2021
12
Dialysis-related amyloidosis. 62
32814965 2021
13
MRI Evaluation of Various Elbow, Forearm, and Wrist Neuropathies: A Pictorial Review. 62
34706391 2021
14
Enhanced β2-microglobulin binding of a "navigator" molecule bearing a single-chain variable fragment antibody for artificial switching of metabolic processing pathways. 62
34231557 2021
15
The folding space of proteinβ2-microglobulin is modulated by a single disulfide bridge. 62
34098544 2021
16
Spinal cord compression in dialysis-related upper cervical amyloidoma - a case report. 62
34035225 2021
17
Beta-2 microglobulin and all-cause mortality in the era of high-flux hemodialysis: results from the Dialysis Outcomes and Practice Patterns Study. 62
33959272 2021
18
Extended-Hours Hemodialysis without Dietary Restrictions Is Associated with Lower Risk for Developing of Dialysis-Related Amyloidosis. 62
33828023 2021
19
Dialysis-related amyloidosis associated with a novel β2-microglobulin variant. 62
32875920 2021
20
Enhanced accessibility and hydrophobicity of amyloidogenic intermediates of the β2-microglobulin D76N mutant revealed by high-pressure experiments. 62
33508321 2021
21
Association of dialysis-related amyloidosis with lower quality of life in patients undergoing hemodialysis for more than 10 years: The Kyushu Dialysis-Related Amyloidosis Study. 62
34428227 2021
22
Beta-2 Microglobulin Amyloidosis: Past, Present, and Future. 62
35372889 2020
23
Modulation of Amyloidogenic Protein Self-Assembly Using Tethered Small Molecules. 62
33253560 2020
24
Artificial switching of the metabolic processing pathway of an etiologic factor, β2-microglobulin, by a "navigator" molecule. 62
32745567 2020
25
The role of the IT-state in D76N β2-microglobulin amyloid assembly: A crucial intermediate or an innocuous bystander? 62
32661194 2020
26
In silico-guided identification of potential inhibitors against β2m aggregation in dialysis-related amyloidosis. 62
31526272 2020
27
Nanobody-Based high-performance immunosorbent for selective beta 2-microglobulin purification from blood. 62
32092428 2020
28
Biochemical and biophysical comparison of human and mouse beta-2 microglobulin reveals the molecular determinants of low amyloid propensity. 62
31420997 2020
29
The Early Phase of β2-Microglobulin Aggregation: Perspectives From Molecular Simulations. 62
33134317 2020
30
Structural Heterogeneity in the Preamyloid Oligomers of β-2-Microglobulin. 62
31711963 2020
31
Chronic intestinal pseudo-obstruction due to β2microglobulin-amyloidosis in a patient on high-flux haemodialysis. 62
31980473 2020
32
Epidemiological survey and risk factor analysis of dialysis-related amyloidosis including destructive spondyloarthropathy, dialysis amyloid arthropathy, and carpal tunnel syndrome. 62
31414282 2020
33
Collagen I Weakly Interacts with the β-Sheets of β2-Microglobulin and Enhances Conformational Exchange To Induce Amyloid Formation. 62
31875390 2020
34
Amyloid Formation under Complicated Conditions in Which β2-Microglobulin Coexists with Its Proteolytic Fragments. 62
31724398 2019
35
Heating during agitation of β2-microglobulin reveals that supersaturation breakdown is required for amyloid fibril formation at neutral pH. 62
31495783 2019
36
Loosening of Side-Chain Packing Associated with Perturbations in Peripheral Dynamics Induced by the D76N Mutation of β2-Microglobulin Revealed by Pressure-NMR and Molecular Dynamic Simulations. 62
31527472 2019
37
Positron Emission Tomography Can Support the Diagnosis of Dialysis-Related Amyloidosis. 62
31546847 2019
38
Structural mapping of oligomeric intermediates in an amyloid assembly pathway. 62
31552823 2019
39
The Early Phase of β2m Aggregation: An Integrative Computational Study Framed on the D76N Mutant and the ΔN6 Variant. 62
31416179 2019
40
One-step Preparation of a VHH-based Immunoadsorbent for the Extracorporeal Removal of β2-microglobulin. 62
31167508 2019
41
Extracellular matrix components modulate different stages in β2-microglobulin amyloid formation. 62
30996004 2019
42
Possible mechanisms of polyphosphate-induced amyloid fibril formation of β2-microglobulin. 62
31182591 2019
43
[Quantitative determination of the beta-2-microglobulin monomer by gel filtration chromatography]. 62
31070337 2019
44
Tendon thickening in dialysis-related joint arthritis is due to amyloid deposits at the surface of the tendon. 62
30243785 2019
45
Molecular mechanisms underlying uremic toxin-related systemic disorders in chronic kidney disease: focused on β2-microglobulin-related amyloidosis and indoxyl sulfate-induced atherosclerosis-Oshima Award Address 2016. 62
29869756 2019
46
Class I small leucine-rich proteoglycans (SLRPs) colocalise with the Aβ2M amyloid deposits: implications for the roles of SLRP core proteins in the pathogenesis of dialysis-related amyloidosis. 62
31343344 2019
47
Conformational Properties Relevant to the Amyloidogenicity of β2-Microglobulin Analyzed Using Pressure- and Salt-Dependent Chemical Shift Data. 62
30604603 2019
48
Investigating the Molecular Basis of the Aggregation Propensity of the Pathological D76N Mutant of Beta-2 Microglobulin: Role of the Denatured State. 62
30669253 2019
49
Clinical Benefit of an Adsorptive Technique for Elderly Long-Term Hemodialysis Patients. 62
30991407 2019
50
Subcutaneous Nodule at the Sacral Region as a Rare Skin Manifestation of Dialysis-Related Amyloidosis. 62
30058254 2018

Variations for Wild Type Abeta2m Amyloidosis

Expression for Wild Type Abeta2m Amyloidosis

Search GEO for disease gene expression data for Wild Type Abeta2m Amyloidosis.

Pathways for Wild Type Abeta2m Amyloidosis

GO Terms for Wild Type Abeta2m Amyloidosis

Sources for Wild Type Abeta2m Amyloidosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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