FBD
MCID: ABR010
MIFTS: 14

Abri Amyloidosis (FBD)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Abri Amyloidosis

MalaCards integrated aliases for Abri Amyloidosis:

Name: Abri Amyloidosis 20 29 6
Cerebral Amyloid Angiopathy, British Type 20
Presenile Dementia with Spastic Ataxia 20
Familial Dementia, British Type 20
Familial British Dementia 20
Fbd 20

Classifications:



Summaries for Abri Amyloidosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97345 Definition A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

MalaCards based summary : Abri Amyloidosis, also known as cerebral amyloid angiopathy, british type, is related to cerebral amyloid angiopathy, itm2b-related, 1 and hereditary cerebral amyloid angiopathy. An important gene associated with Abri Amyloidosis is ITM2B (Integral Membrane Protein 2B).

Related Diseases for Abri Amyloidosis

Graphical network of the top 20 diseases related to Abri Amyloidosis:



Diseases related to Abri Amyloidosis

Symptoms & Phenotypes for Abri Amyloidosis

Drugs & Therapeutics for Abri Amyloidosis

Search Clinical Trials , NIH Clinical Center for Abri Amyloidosis

Genetic Tests for Abri Amyloidosis

Genetic tests related to Abri Amyloidosis:

# Genetic test Affiliating Genes
1 Abri Amyloidosis 29

Anatomical Context for Abri Amyloidosis

Publications for Abri Amyloidosis

Articles related to Abri Amyloidosis:

# Title Authors PMID Year
1
A stop-codon mutation in the BRI gene associated with familial British dementia. 6
10391242 1999
2
Familial Presenile Dementia with Spastic Paralysis. 6
21610757 1933
3
Modeling familial British dementia in transgenic mice. 61
16612985 2006

Variations for Abri Amyloidosis

ClinVar genetic disease variations for Abri Amyloidosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITM2B NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg) SNV Pathogenic 5979 rs104894417 GRCh37: 13:48835358-48835358
GRCh38: 13:48261222-48261222

Expression for Abri Amyloidosis

Search GEO for disease gene expression data for Abri Amyloidosis.

Pathways for Abri Amyloidosis

GO Terms for Abri Amyloidosis

Sources for Abri 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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