DRA
MCID: DLY010
MIFTS: 44

Dialysis-Related Amyloidosis (DRA)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Dialysis-Related Amyloidosis

MalaCards integrated aliases for Dialysis-Related Amyloidosis:

Name: Dialysis-Related Amyloidosis 11 19 14
Autosomal Dominant Beta2-Microglobulinic Amyloidosis 11 58
Beta2-Microglobulinic Amyloidosis 11 58
Variant Abeta2m Amyloidosis 11 58
Abeta2m Amyloidosis 11 58
Amyloidosis Beta2m 11 19
Dialysis-Related Beta2-Microglobulin Amyloidosis 11
Hemodialysis-Associated Amyloidosis 71
Beta-2-Microglobulin Amyloidosis 19
Amyloidosis Dialysis-Related 19
Aβ2m Amyloidosis 11
Dra 19

Characteristics:


Inheritance:

Variant Abeta2m Amyloidosis: Autosomal dominant 58

Prevelance:

Variant Abeta2m Amyloidosis: <1/1000000 (Worldwide) 58

Age Of Onset:

Variant Abeta2m Amyloidosis: Adult 58
Abeta2m Amyloidosis: Adult 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Dialysis-Related Amyloidosis

Orphanet: 58 A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.

MalaCards based summary: Dialysis-Related Amyloidosis, also known as autosomal dominant beta2-microglobulinic amyloidosis, is related to frontotemporal dementia and parkinson disease, late-onset. An important gene associated with Dialysis-Related Amyloidosis is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Metabolism of proteins and FOXA2 and FOXA3 transcription factor networks. The drug Carbamide peroxide has been mentioned in the context of this disorder. Affiliated tissues include bone, salivary gland and spinal cord, and related phenotypes are constrictive median neuropathy and chronic kidney disease

Disease Ontology 11 Dialysis-related amyloidosis: An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy.

Variant abeta2m amyloidosis: An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.

GARD: 19 #946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.

Related Diseases for Dialysis-Related Amyloidosis

Diseases related to Dialysis-Related Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 275)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia 31.1 SNCA SERPINA3 HTT ALB
2 parkinson disease, late-onset 30.7 TTR SNCA SERPINA3 IAPP HTT ALB
3 diarrhea 30.3 TTR SLC26A3 ALB
4 serum amyloid a amyloidosis 30.1 TTR SERPINA3 B2M ALB
5 amyloidosis 30.0 TTR SNCA SERPINA3 IAPP B2M APOA2
6 dysentery 29.9 TTR SERPINA3 ALB
7 prion disease 29.8 SNCA SERPINA3 HTT
8 henoch-schoenlein purpura 29.7 SERPINA3 ALB
9 chronic pyelonephritis 29.7 SERPINA3 B2M ALB
10 immunoglobulin light chain amyloidosis 29.5 TTR B2M APOA2 APCS ALB
11 respiratory failure 29.5 TTR SERPINA3 ALB
12 polyneuropathy 29.4 TTR SNCA APOA2 ALB
13 amyotrophic lateral sclerosis 1 29.2 TTR SNCA SERPINA3 HTT ALB
14 liver cirrhosis 29.0 TTR SERPINA3 ALB
15 amyloidosis, hereditary, transthyretin-related 28.2 TTR SNCA IAPP HTT B2M APOA2
16 wild type abeta2m amyloidosis 11.5
17 systemic lupus erythematosus 11.2
18 thrombocytopenia 11.1
19 azoospermia 11.1
20 congenital chloride diarrhea 11.1
21 chromophobe renal cell carcinoma 10.9
22 gallbladder melanoma 10.9
23 carpal tunnel syndrome 10.7
24 mononeuropathy of the median nerve, mild 10.7
25 arthropathy 10.5
26 adenoma 10.5
27 spondyloarthropathy 10.5
28 osteoarthritis 10.4
29 chronic kidney disease 10.4
30 end stage renal disease 10.4
31 uremia 10.3
32 amyloid tumor 10.3 TTR B2M
33 pulmonary coin lesion 10.3 TTR B2M
34 asymmetric motor neuropathy 10.3 TTR B2M
35 hereditary amyloidosis 10.3 TTR B2M
36 secondary hyperparathyroidism 10.2
37 pure autonomic failure 10.2 TTR SNCA
38 alzheimer disease 2 10.2 SNCA SERPINA3
39 carotenemia 10.2 TTR APCS
40 subjective cognitive decline 10.2 SNCA SERPINA3
41 renal tuberculosis 10.2 B2M ALB
42 orthostatic proteinuria 10.2 B2M ALB
43 non-secretory myeloma 10.2 B2M ALB
44 olivopontocerebellar atrophy 10.2 SNCA SERPINA3
45 extramedullary plasmacytoma 10.1 B2M ALB
46 retinoblastoma 10.1
47 pyuria 10.1 B2M ALB
48 immunodeficiency 43 10.1 B2M ALB
49 marasmus 10.1 TTR ALB
50 constrictive pericarditis 10.1 TTR ALB

Graphical network of the top 20 diseases related to Dialysis-Related Amyloidosis:



Diseases related to Dialysis-Related Amyloidosis

Symptoms & Phenotypes for Dialysis-Related Amyloidosis

Human phenotypes related to Dialysis-Related Amyloidosis:

58 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constrictive median neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0012185
2 chronic kidney disease 58 30 Frequent (33%) Frequent (79-30%)
HP:0012622
3 renal amyloidosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001917
4 gastrointestinal infarctions 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005244
5 abnormality of the tongue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000157
6 abnormal salivary gland morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010286
7 spinal cord compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002176
8 pathologic fracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002756
9 sensorimotor neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007141
10 abnormal skeletal muscle morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011805
11 cardiac amyloidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030843
12 cutaneous amyloidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012309
13 abnormal autonomic nervous system physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012332
14 abnormal vascular morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025015
15 shoulder pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030834
16 arthralgia of the hip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003365
17 intestinal perforation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031368
18 amyloidosis of peripheral nerves 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100292
19 knee pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030839
20 hepatic amyloidosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012280
21 wrist pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030836
22 cardiovascular calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011915
23 multiple bony cystic lesions 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012065
24 reduced left ventricular ejection fraction 30 Occasional (7.5%) HP:0012664
25 reduced ejection fraction 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Dialysis-Related Amyloidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ALB APCS APOA2 B2M HTT IAPP

Drugs & Therapeutics for Dialysis-Related Amyloidosis

Drugs for Dialysis-Related 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
2 A Randomised, Open-Label, Cross Over Group, Single-Centre Controlled Study To Evaluate The Clinical Performance Of Medium Cut-Off Membrane Dialyser Compared With High Flux Dialyser In Removing Beta-2- Microglobulin Among Patients With End-Stage Kidney Disease On Chronic Haemodialysis Completed NCT04160351

Search NIH Clinical Center for Dialysis-Related Amyloidosis

Genetic Tests for Dialysis-Related Amyloidosis

Anatomical Context for Dialysis-Related Amyloidosis

Organs/tissues related to Dialysis-Related Amyloidosis:

MalaCards : Bone, Salivary Gland, Spinal Cord, Kidney, Skeletal Muscle, Tongue, Monocytes

Publications for Dialysis-Related Amyloidosis

Articles related to Dialysis-Related Amyloidosis:

(show top 50) (show all 622)
# 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
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
21
Enhanced accessibility and hydrophobicity of amyloidogenic intermediates of the β2-microglobulin D76N mutant revealed by high-pressure experiments. 62
33508321 2021
22
Immunohistochemical typing of amyloid in fixed paraffin-embedded samples by an automatic procedure: Comparison with immunofluorescence data on fresh-frozen tissue. 62
34428239 2021
23
Beta-2 Microglobulin Amyloidosis: Past, Present, and Future. 62
35372889 2020
24
Modulation of Amyloidogenic Protein Self-Assembly Using Tethered Small Molecules. 62
33253560 2020
25
Artificial switching of the metabolic processing pathway of an etiologic factor, β2-microglobulin, by a "navigator" molecule. 62
32745567 2020
26
In silico-guided identification of potential inhibitors against β2m aggregation in dialysis-related amyloidosis. 62
31526272 2020
27
The role of the IT-state in D76N β2-microglobulin amyloid assembly: A crucial intermediate or an innocuous bystander? 62
32661194 2020
28
Nanobody-Based high-performance immunosorbent for selective beta 2-microglobulin purification from blood. 62
32092428 2020
29
Biochemical and biophysical comparison of human and mouse beta-2 microglobulin reveals the molecular determinants of low amyloid propensity. 62
31420997 2020
30
Chronic intestinal pseudo-obstruction due to β2microglobulin-amyloidosis in a patient on high-flux haemodialysis. 62
31980473 2020
31
Epidemiological survey and risk factor analysis of dialysis-related amyloidosis including destructive spondyloarthropathy, dialysis amyloid arthropathy, and carpal tunnel syndrome. 62
31414282 2020
32
Structural Heterogeneity in the Preamyloid Oligomers of β-2-Microglobulin. 62
31711963 2020
33
The Early Phase of β2-Microglobulin Aggregation: Perspectives From Molecular Simulations. 62
33134317 2020
34
Collagen I Weakly Interacts with the β-Sheets of β2-Microglobulin and Enhances Conformational Exchange To Induce Amyloid Formation. 62
31875390 2020
35
Amyloid Formation under Complicated Conditions in Which β2-Microglobulin Coexists with Its Proteolytic Fragments. 62
31724398 2019
36
Heating during agitation of β2-microglobulin reveals that supersaturation breakdown is required for amyloid fibril formation at neutral pH. 62
31495783 2019
37
Structural mapping of oligomeric intermediates in an amyloid assembly pathway. 62
31552823 2019
38
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
39
Positron Emission Tomography Can Support the Diagnosis of Dialysis-Related Amyloidosis. 62
31546847 2019
40
The pathology and changing epidemiology of dialysis-related cardiac beta-2 microglobulin amyloidosis. 62
31226597 2019
41
The Early Phase of β2m Aggregation: An Integrative Computational Study Framed on the D76N Mutant and the ΔN6 Variant. 62
31416179 2019
42
One-step Preparation of a VHH-based Immunoadsorbent for the Extracorporeal Removal of β2-microglobulin. 62
31167508 2019
43
Extracellular matrix components modulate different stages in β2-microglobulin amyloid formation. 62
30996004 2019
44
Possible mechanisms of polyphosphate-induced amyloid fibril formation of β2-microglobulin. 62
31182591 2019
45
[Quantitative determination of the beta-2-microglobulin monomer by gel filtration chromatography]. 62
31070337 2019
46
An unusual case of Aβ2M amyloid deposition in bladder cancer in a non-dialysis patient. 62
30707483 2019
47
Tendon thickening in dialysis-related joint arthritis is due to amyloid deposits at the surface of the tendon. 62
30243785 2019
48
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
49
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
50
Conformational Properties Relevant to the Amyloidogenicity of β2-Microglobulin Analyzed Using Pressure- and Salt-Dependent Chemical Shift Data. 62
30604603 2019

Variations for Dialysis-Related Amyloidosis

Expression for Dialysis-Related Amyloidosis

Search GEO for disease gene expression data for Dialysis-Related Amyloidosis.

Pathways for Dialysis-Related Amyloidosis

Pathways related to Dialysis-Related Amyloidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 TTR SNCA IAPP B2M APOA2 APCS
2
Show member pathways
10.59 TTR ALB

GO Terms for Dialysis-Related Amyloidosis

Cellular components related to Dialysis-Related Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.06 TTR SNCA SERPINA3 IAPP B2M APOA2
2 extracellular space GO:0005615 9.83 ALB APCS APOA2 B2M IAPP SERPINA3
3 inclusion body GO:0016234 9.56 SNCA HTT
4 blood microparticle GO:0072562 9.23 SERPINA3 APOA2 APCS ALB

Molecular functions related to Dialysis-Related Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TTR SNCA IAPP HTT B2M APCS
2 lipid binding GO:0008289 9.17 SNCA IAPP APOA2 ALB

Sources for Dialysis-Related 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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