MCID: VRN007
MIFTS: 14

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 55
Autosomal Dominant Beta2-Microglobulinic Amyloidosis 55

Characteristics:

Orphanet epidemiological data:

55
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, and has symptoms including xerostomia, keratoconjunctivitis sicca and weight loss. An important gene associated with Variant Abeta2m Amyloidosis is B2M (Beta-2-Microglobulin). Affiliated tissues include bone.

Related Diseases for Variant Abeta2m Amyloidosis

Symptoms & Phenotypes for Variant Abeta2m Amyloidosis

Human phenotypes related to Variant Abeta2m Amyloidosis:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000217
2 keratoconjunctivitis sicca 55 31 hallmark (90%) Very frequent (99-80%) HP:0001097
3 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
5 chronic diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002028
6 gastrointestinal hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002239
7 intermittent diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002254
8 autonomic dysregulation 55 31 frequent (33%) Frequent (79-30%) HP:0002271
9 vertigo 55 31 hallmark (90%) Very frequent (99-80%) HP:0002321
10 gastrointestinal dysmotility 55 31 frequent (33%) Frequent (79-30%) HP:0002579
11 bowel incontinence 55 31 hallmark (90%) Very frequent (99-80%) HP:0002607
12 chronic axonal neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0007267
13 orthostatic hypotension due to autonomic dysfunction 55 31 hallmark (90%) Very frequent (99-80%) HP:0004926
14 autonomic bladder dysfunction 55 31 frequent (33%) Frequent (79-30%) HP:0005341
15 chronic constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0012450
16 constipation 55 Very frequent (99-80%)

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:

38
Bone

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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