AD9
MCID: ALZ045
MIFTS: 24

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 57 75 13 73
Alzheimer Disease, Type 9 29 6
Ad9 57 75
Alzheimer Disease 9, Susceptibility to 57
Alzheimer Disease 9, Late-Onset 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
alzheimer disease 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Alzheimer Disease 9

UniProtKB/Swiss-Prot : 75 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 depressivity and cerebral cortical atrophy

Description from OMIM: 608907

Related Diseases for Alzheimer Disease 9

Symptoms & Phenotypes for Alzheimer Disease 9

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alzheimer Disease 9:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 cerebral cortical atrophy 32 HP:0002120
3 memory impairment 32 HP:0002354
4 abnormality of extrapyramidal motor function 32 occasional (7.5%) HP:0002071
5 neurofibrillary tangles 32 HP:0002185
6 disinhibition 32 HP:0000734
7 senile plaques 32 HP:0100256
8 alzheimer disease 32 HP:0002511
9 hippocampal atrophy 32 HP:0410170

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 29 ABCA7

Anatomical Context for Alzheimer Disease 9

Publications for Alzheimer Disease 9

Variations for Alzheimer Disease 9

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 risk factor rs547447016 GRCh38 Chromosome 19, 1047511: 1047516
2 ABCA7 NM_019112.3(ABCA7): c.2126_2131delAGCAGG (p.Glu709_Gln710del) deletion risk factor rs547447016 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 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
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