MCID: VRN007
MIFTS: 20

Variant Abeta2m Amyloidosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Variant Abeta2m Amyloidosis

MalaCards integrated aliases for Variant Abeta2m Amyloidosis:

Name: Variant Abeta2m Amyloidosis 58
Autosomal Dominant Beta2-Microglobulinic Amyloidosis 58
Beta2-Microglobulinic Amyloidosis 58
Abeta2m Amyloidosis 58

Characteristics:

Orphanet epidemiological data:

58
variant abeta2m amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
abeta2m amyloidosis
Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


Summaries for Variant Abeta2m Amyloidosis

MalaCards based summary : Variant Abeta2m Amyloidosis, also known as autosomal dominant beta2-microglobulinic amyloidosis, is related to wild type abeta2m amyloidosis. An important gene associated with Variant Abeta2m Amyloidosis is B2M (Beta-2-Microglobulin). Affiliated tissues include spinal cord, skeletal muscle and salivary gland, and related phenotypes are bowel incontinence and malabsorption

Related Diseases for Variant Abeta2m Amyloidosis

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

# Related Disease Score Top Affiliating Genes
1 wild type abeta2m amyloidosis 11.2

Symptoms & Phenotypes for Variant Abeta2m Amyloidosis

Human phenotypes related to Variant Abeta2m Amyloidosis:

31 58 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowel incontinence 31 hallmark (90%) HP:0002607
2 malabsorption 31 hallmark (90%) HP:0002024
3 vertigo 31 hallmark (90%) HP:0002321
4 gastrointestinal hemorrhage 31 hallmark (90%) HP:0002239
5 weight loss 31 hallmark (90%) HP:0001824
6 chronic diarrhea 31 hallmark (90%) HP:0002028
7 keratoconjunctivitis sicca 31 hallmark (90%) HP:0001097
8 intermittent diarrhea 31 hallmark (90%) HP:0002254
9 xerostomia 31 hallmark (90%) HP:0000217
10 orthostatic hypotension due to autonomic dysfunction 31 hallmark (90%) HP:0004926
11 chronic constipation 31 hallmark (90%) HP:0012450
12 gastrointestinal dysmotility 31 frequent (33%) HP:0002579
13 autonomic bladder dysfunction 31 frequent (33%) HP:0005341
14 chronic axonal neuropathy 31 occasional (7.5%) HP:0007267
15 gastrointestinal infarctions 58 Occasional (29-5%)
16 abnormality of the tongue 58 Occasional (29-5%)
17 constrictive median neuropathy 58 Frequent (79-30%)
18 reduced ejection fraction 58 Occasional (29-5%)
19 abnormal salivary gland morphology 58 Occasional (29-5%)
20 chronic kidney disease 58 Frequent (79-30%)
21 spinal cord compression 58 Occasional (29-5%)
22 renal amyloidosis 58 Frequent (79-30%)
23 pathologic fracture 58 Occasional (29-5%)
24 sensorimotor neuropathy 58 Occasional (29-5%)
25 abnormal skeletal muscle morphology 58 Occasional (29-5%)
26 cardiac amyloidosis 58 Occasional (29-5%)
27 cutaneous amyloidosis 58 Occasional (29-5%)
28 abnormal autonomic nervous system physiology 58 Occasional (29-5%)
29 abnormal vascular morphology 58 Occasional (29-5%)
30 shoulder pain 58 Occasional (29-5%)
31 arthralgia of the hip 58 Occasional (29-5%)
32 intestinal perforation 58 Occasional (29-5%)
33 amyloidosis of peripheral nerves 58 Occasional (29-5%)
34 knee pain 58 Occasional (29-5%)
35 hepatic amyloidosis 58 Occasional (29-5%)
36 wrist pain 58 Occasional (29-5%)
37 cardiovascular calcification 58 Occasional (29-5%)
38 multiple bony cystic lesions 58 Occasional (29-5%)

Drugs & Therapeutics for Variant Abeta2m Amyloidosis

Search Clinical Trials , NIH Clinical Center for Variant Abeta2m Amyloidosis

Genetic Tests for Variant Abeta2m Amyloidosis

Anatomical Context for Variant Abeta2m Amyloidosis

MalaCards organs/tissues related to Variant Abeta2m Amyloidosis:

40
Spinal Cord, Skeletal Muscle, Salivary Gland, Tongue, Kidney

Publications for Variant Abeta2m Amyloidosis

Articles related to Variant Abeta2m Amyloidosis:

# Title Authors PMID Year
1
A case report of severe visceral beta2-microglobulin-derived amyloidosis without obvious joint symptoms or radiological findings in a chronic hemodialyzed patient with systemic lupus erythematosus. 61
19527472 2009
2
Growth of beta(2)-microglobulin-related amyloid fibrils by non-esterified fatty acids at a neutral pH. 61
18637792 2008
3
Lysophospholipids induce the nucleation and extension of beta2-microglobulin-related amyloid fibrils at a neutral pH. 61
18467373 2008
4
[Histopathological diagnosis of amyloidosis]. 61
16789423 2006
5
Low concentrations of sodium dodecyl sulfate induce the extension of beta 2-microglobulin-related amyloid fibrils at a neutral pH. 61
15323566 2004
6
Glycosaminoglycan and proteoglycan inhibit the depolymerization of beta2-microglobulin amyloid fibrils in vitro. 61
12911560 2003
7
Scintigraphic methods to detect beta2-microglobulin associated amyloidosis (Abeta2-microglobulin amyloidosis). 61
11402091 2001
8
Ultrastructural localization of advanced glycation end products and beta2-microglobulin in dialysis amyloidosis. 61
10858976 2000

Variations for Variant Abeta2m Amyloidosis

Expression for Variant Abeta2m Amyloidosis

Search GEO for disease gene expression data for Variant Abeta2m Amyloidosis.

Pathways for Variant Abeta2m Amyloidosis

GO Terms for Variant Abeta2m Amyloidosis

Sources for Variant Abeta2m Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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