CAA-ITM2B2
MCID: DMN004
MIFTS: 33

Dementia, Familial Danish (CAA-ITM2B2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Ear diseases, Mental diseases

Aliases & Classifications for Dementia, Familial Danish

Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 54 50 24 13 52 69
Heredopathia Ophthalmootoencephalica 50 24 66
Familial Danish Dementia 50 24 66
Hooe 50 24 66
Fdd 50 24 66
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 50 24
Familial Cerebral Amyloid Angiopathy 56 69
Familial Dementia, Danish Type 56 29
Itm2b Amyloidosis 50 56
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 66
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 54
Cerebral Amyloid Angiopathy, Itm2b-Related 2 66
Itm2b-Related Cerebral Amyloid Angiopathy 2 24
Itm2b-Related Cerebral Amyloid Angiopathy 56
Cerebral Amyloid Angiopathy Familial 52
Itm2b-Related Amyloidosis 56
Adan Amyloidosis 56
Caa-Itm2b2 66

Characteristics:

Orphanet epidemiological data:

56
itm2b amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
adan amyloidosis
Inheritance: Autosomal dominant;

HPO:

32
dementia, familial danish:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 117300
ICD10 via Orphanet 34 E85.4+ I68.0*
MESH via Orphanet 43 C538209
UMLS via Orphanet 70 C1861735
MedGen 40 C1861735
MeSH 42 D028243

Summaries for Dementia, Familial Danish

UniProtKB/Swiss-Prot : 66 Cerebral amyloid angiopathy, ITM2B-related 2: A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness.

MalaCards based summary : Dementia, Familial Danish, also known as heredopathia ophthalmootoencephalica, is related to cerebral amyloid angiopathy and hereditary cerebral amyloid angiopathy, and has symptoms including ataxia, spasticity and hearing impairment. An important gene associated with Dementia, Familial Danish is ITM2B (Integral Membrane Protein 2B), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include spinal cord, retina and cerebellum, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Description from OMIM: 117300

Related Diseases for Dementia, Familial Danish

Diseases related to Dementia, Familial Danish via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy 11.8
2 hereditary cerebral amyloid angiopathy 11.3
3 dementia, familial british 11.3
4 dementia 10.0
5 eumycotic mycetoma 9.9 CST3 ITM2B
6 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.8 CST3 ITM2B
7 rieger syndrome, type 2 9.8 ITM2B TUBB
8 cerebritis 9.7
9 amyloidosis 9.7
10 postaxial polydactyly, type a2 9.6 CST3 ITM2B TUBB

Graphical network of the top 20 diseases related to Dementia, Familial Danish:



Diseases related to Dementia, Familial Danish

Symptoms & Phenotypes for Dementia, Familial Danish

Symptoms by clinical synopsis from OMIM:

117300

Clinical features from OMIM:

117300

Human phenotypes related to Dementia, Familial Danish:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 spasticity 32 HP:0001257
3 hearing impairment 32 HP:0000365
4 intention tremor 32 HP:0002080
5 psychosis 32 HP:0000709
6 dementia 32 HP:0000726
7 neurofibrillary tangles 32 HP:0002185
8 cerebral amyloid angiopathy 32 HP:0011970
9 posterior polar cataract 32 HP:0001115

UMLS symptoms related to Dementia, Familial Danish:


cerebellar ataxia

GenomeRNAi Phenotypes related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.66 CST3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.66 TUBB CST3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.66 CST3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.66 CST3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.66 CST3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.66 CST3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.66 TUBB CST3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.66 CST3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.66 CST3

Drugs & Therapeutics for Dementia, Familial Danish

Search Clinical Trials , NIH Clinical Center for Dementia, Familial Danish

Genetic Tests for Dementia, Familial Danish

Genetic tests related to Dementia, Familial Danish:

id Genetic test Affiliating Genes
1 Dementia, Familial Danish 29
2 Itm2b-Related Cerebral Amyloid Angiopathy 2 24 ITM2B

Anatomical Context for Dementia, Familial Danish

MalaCards organs/tissues related to Dementia, Familial Danish:

39
Spinal Cord, Retina, Cerebellum, Bone

Publications for Dementia, Familial Danish

Variations for Dementia, Familial Danish

ClinVar genetic disease variations for Dementia, Familial Danish:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ITM2B NM_021999.4(ITM2B): c.786_795dupTTTAATTTGT (p.Ser266Phefs) duplication Pathogenic rs606231166 GRCh38 Chromosome 13, 48261209: 48261218

Expression for Dementia, Familial Danish

Search GEO for disease gene expression data for Dementia, Familial Danish.

Pathways for Dementia, Familial Danish

Pathways related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.13 CST3 TUBB

GO Terms for Dementia, Familial Danish

Cellular components related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.13 CST3 ITM2B TUBB
2 extracellular region GO:0005576 8.8 CST3 ITM2B TUBB

Biological processes related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 CST3 TUBB
2 cellular protein metabolic process GO:0044267 8.62 CST3 ITM2B

Molecular functions related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 beta-amyloid binding GO:0001540 8.62 CST3 ITM2B

Sources for Dementia, Familial Danish

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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