MCID: VRN007
MIFTS: 10

Variant Abeta2m Amyloidosis malady

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Variant Abeta2m Amyloidosis

Aliases & Descriptions for Variant Abeta2m Amyloidosis:

Name: Variant Abeta2m Amyloidosis 56
Autosomal Dominant Beta2-Microglobulinic Amyloidosis 56

Characteristics:

Orphanet epidemiological data:

56
variant abeta2m amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

Orphanet 56 ORPHA314652
ICD10 via Orphanet 34 E85.1

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:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 56 32 Very frequent (99-80%) HP:0000217
2 keratoconjunctivitis sicca 56 32 Very frequent (99-80%) HP:0001097
3 weight loss 56 32 Very frequent (99-80%) HP:0001824
4 malabsorption 56 32 Very frequent (99-80%) HP:0002024
5 chronic diarrhea 56 32 Very frequent (99-80%) HP:0002028
6 gastrointestinal hemorrhage 56 32 Very frequent (99-80%) HP:0002239
7 intermittent diarrhea 56 32 Very frequent (99-80%) HP:0002254
8 autonomic dysregulation 56 32 Frequent (79-30%) HP:0002271
9 vertigo 56 32 Very frequent (99-80%) HP:0002321
10 gastrointestinal dysmotility 56 32 Frequent (79-30%) HP:0002579
11 bowel incontinence 56 32 Very frequent (99-80%) HP:0002607
12 chronic axonal neuropathy 56 32 Occasional (29-5%) HP:0007267
13 orthostatic hypotension due to autonomic dysfunction 56 32 Very frequent (99-80%) HP:0004926
14 autonomic bladder dysfunction 56 32 Frequent (79-30%) HP:0005341
15 chronic constipation 56 32 Very frequent (99-80%) HP:0012450
16 constipation 56 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:

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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