MCID: VRN007
MIFTS: 12

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 60
Autosomal Dominant Beta2-Microglobulinic Amyloidosis 60

Characteristics:

Orphanet epidemiological data:

60
variant abeta2m amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



Summaries for Variant Abeta2m Amyloidosis

MalaCards based summary : Variant Abeta2m Amyloidosis, is also known as autosomal dominant beta2-microglobulinic amyloidosis. An important gene associated with Variant Abeta2m Amyloidosis is B2M (Beta-2-Microglobulin). Related phenotypes are bowel incontinence and malabsorption

Related Diseases for Variant Abeta2m Amyloidosis

Symptoms & Phenotypes for Variant Abeta2m Amyloidosis

Human phenotypes related to Variant Abeta2m Amyloidosis:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowel incontinence 60 33 hallmark (90%) Very frequent (99-80%) HP:0002607
2 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
3 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
4 keratoconjunctivitis sicca 60 33 hallmark (90%) Very frequent (99-80%) HP:0001097
5 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
6 xerostomia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000217
7 gastrointestinal hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0002239
8 chronic diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002028
9 orthostatic hypotension due to autonomic dysfunction 60 33 hallmark (90%) Very frequent (99-80%) HP:0004926
10 chronic constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012450
11 intermittent diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002254
12 autonomic bladder dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0005341
13 gastrointestinal dysmotility 60 33 frequent (33%) Frequent (79-30%) HP:0002579
14 chronic axonal neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007267
15 constipation 60 Very frequent (99-80%)
16 autonomic dysregulation 60 Frequent (79-30%)

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

Publications for Variant Abeta2m Amyloidosis

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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