AD9
MCID: ALZ045
MIFTS: 27

Alzheimer Disease 9 (AD9)

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

Aliases & Classifications for Alzheimer Disease 9

MalaCards integrated aliases for Alzheimer Disease 9:

Name: Alzheimer Disease 9 58 76 13 74
Alzheimer Disease, Type 9 30 6
Ad9 58 76
Alzheimer Disease 9, Susceptibility to 58
Alzheimer Disease 9, Late-Onset 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
mean age at onset 73 years (range 54 to 90)


HPO:

33
alzheimer disease 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alzheimer Disease 9

UniProtKB/Swiss-Prot : 76 Alzheimer disease 9: A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease 9, also known as alzheimer disease, type 9, is related to alzheimer disease 2 and alzheimer disease 15. An important gene associated with Alzheimer Disease 9 is ABCA7 (ATP Binding Cassette Subfamily A Member 7). Related phenotypes are abnormality of extrapyramidal motor function and depressivity

Description from OMIM: 608907

Related Diseases for Alzheimer Disease 9

Symptoms & Phenotypes for Alzheimer Disease 9

Human phenotypes related to Alzheimer Disease 9:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormality of extrapyramidal motor function 33 occasional (7.5%) HP:0002071
2 depressivity 33 HP:0000716
3 cerebral cortical atrophy 33 HP:0002120
4 memory impairment 33 HP:0002354
5 neurofibrillary tangles 33 HP:0002185
6 disinhibition 33 HP:0000734
7 senile plaques 33 HP:0100256
8 alzheimer disease 33 HP:0002511
9 hippocampal atrophy 33 HP:0410170

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
disinhibition
depression
frontal signs

Neurologic Central Nervous System:
senile plaques
alzheimer disease
cortical atrophy
memory loss, progressive
language difficulties
more

Clinical features from OMIM:

608907

Drugs & Therapeutics for Alzheimer Disease 9

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease 9

Genetic Tests for Alzheimer Disease 9

Genetic tests related to Alzheimer Disease 9:

# Genetic test Affiliating Genes
1 Alzheimer Disease, Type 9 30 ABCA7

Anatomical Context for Alzheimer Disease 9

Publications for Alzheimer Disease 9

Articles related to Alzheimer Disease 9:

# Title Authors Year
1
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants. ( 27066581 )
2016
2
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. ( 25807283 )
2015
3
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study. ( 26141617 )
2015
4
Draft Genome Sequences of the Alga-Degrading Bacteria Aeromonas hydrophila Strain AD9 and Pseudomonas pseudoalcaligenes Strain AD6. ( 25035334 )
2014
5
EFNS guidelines for the diagnosis and management of Alzheimer's disease. ( 20831773 )
2010
6
Preventing Alzheimer's disease and cognitive decline. ( 21500874 )
2010
7
Functional analysis of a putative regulatory gene, tadR, involved in aniline degradation in Delftia tsuruhatensis AD9. ( 19504258 )
2009
8
Chromosome-encoded gene cluster for the metabolic pathway that converts aniline to TCA-cycle intermediates in Delftia tsuruhatensis AD9. ( 16207925 )
2005
9
Recombinant fibre proteins of human adenoviruses Ad9, Ad15 and Ad19: localization of the haemagglutination properties and the type-specific determinant. ( 9017826 )
1997
10
Comparative analysis of adenovirus fiber-cell interaction: adenovirus type 2 (Ad2) and Ad9 utilize the same cellular fiber receptor but use different binding strategies for attachment. ( 8892881 )
1996

Variations for Alzheimer Disease 9

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 9:

76
# Symbol AA change Variation ID SNP ID
1 ABCA7 p.Arg880Gln VAR_081204 rs143718918

ClinVar genetic disease variations for Alzheimer Disease 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA7 NM_019112.3(ABCA7): c.2126_2131delAGCAGG (p.Glu709_Gln710del) deletion Uncertain significance rs1555685376 GRCh38 Chromosome 19, 1047511: 1047516
2 ABCA7 NM_019112.3(ABCA7): c.2126_2131delAGCAGG (p.Glu709_Gln710del) deletion Uncertain significance rs1555685376 GRCh37 Chromosome 19, 1047510: 1047515
3 ABCA7 NM_019112.3(ABCA7): c.3641G> A (p.Trp1214Ter) single nucleotide variant Uncertain significance rs201060968 GRCh37 Chromosome 19, 1054255: 1054255
4 ABCA7 NM_019112.3(ABCA7): c.3641G> A (p.Trp1214Ter) single nucleotide variant Uncertain significance rs201060968 GRCh38 Chromosome 19, 1054256: 1054256

Expression for Alzheimer Disease 9

Search GEO for disease gene expression data for Alzheimer Disease 9.

Pathways for Alzheimer Disease 9

GO Terms for Alzheimer Disease 9

Sources for Alzheimer Disease 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....