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 59
Autosomal Dominant Beta2-Microglobulinic Amyloidosis 59

Characteristics:

Orphanet epidemiological data:

59
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). Affiliated tissues include bone, and related phenotypes are xerostomia and keratoconjunctivitis sicca

Related Diseases for Variant Abeta2m Amyloidosis

Symptoms & Phenotypes for Variant Abeta2m Amyloidosis

Human phenotypes related to Variant Abeta2m Amyloidosis:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000217
2 keratoconjunctivitis sicca 59 32 hallmark (90%) Very frequent (99-80%) HP:0001097
3 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
4 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
5 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
6 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
7 intermittent diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002254
8 autonomic dysregulation 59 32 frequent (33%) Frequent (79-30%) HP:0002271
9 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
10 gastrointestinal dysmotility 59 32 frequent (33%) Frequent (79-30%) HP:0002579
11 bowel incontinence 59 32 hallmark (90%) Very frequent (99-80%) HP:0002607
12 chronic axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007267
13 orthostatic hypotension due to autonomic dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0004926
14 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
15 chronic constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0012450
16 constipation 59 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....