MCID: ALZ011
MIFTS: 17

Alzheimer Disease 1, Familial malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Alzheimer Disease 1, Familial

About this section


Fully expand this MalaCard
MalaCards based summary: Alzheimer Disease 1, Familial is related to alzheimer's disease and parkinson's disease. An important gene associated with Alzheimer Disease 1, Familial is APP (amyloid beta (A4) precursor protein). The compounds isoflurane and FAD have been mentioned in the context of this disorder.

Description from OMIM:46 104300

Aliases & Classifications for Alzheimer Disease 1, Familial

About this section

Alzheimer Disease 1, Familial, Aliases & Descriptions:

Name: Alzheimer Disease 1, Familial 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Mental diseases, Neuronal diseases


Related Diseases for Alzheimer Disease 1, Familial

About this section

Symptoms for Alzheimer Disease 1, Familial

About this section


Clinical features from OMIM:

104300

Drugs & Therapeutics for Alzheimer Disease 1, Familial

About this section

Drug clinical trials:

Search ClinicalTrials for Alzheimer Disease 1, Familial

Search NIH Clinical Center for Alzheimer Disease 1, Familial

Genetic Tests for Alzheimer Disease 1, Familial

About this section

Anatomical Context for Alzheimer Disease 1, Familial

About this section

Animal Models for Alzheimer Disease 1, Familial or affiliated genes

About this section

Publications for Alzheimer Disease 1, Familial

About this section

Variations for Alzheimer Disease 1, Familial

About this section

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 1, Familial:

64 (show all 13)
id Symbol AA change Variation ID SNP ID
1APPp.Ala692GlyVAR_000016
2APPp.Ala713ThrVAR_000019
3APPp.Ile716ValVAR_000020
4APPp.Val717IleVAR_000021
5APPp.Val717GlyVAR_000022
6APPp.Val717PheVAR_000023
7APPp.Val715MetVAR_010108
8APPp.Leu723ProVAR_010109
9APPp.Glu693GlyVAR_014215
10APPp.Thr714IleVAR_014218
11APPp.Val717LeuVAR_014219
12APPp.Thr714AlaVAR_032277
13APPp.Asp678AsnVAR_044424

Clinvar genetic disease variations for Alzheimer Disease 1, Familial:

6
id Gene Name Type Significance SNP ID Assembly Location
1APPNM_000484.3(APP): c.2149G> A (p.Val717Ile)single nucleotide variantPathogenicrs63750264GRCh37Chr 21, 27264096: 27264096
2APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
3APPNM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)indelPathogenicrs281865161GRCh37Chr 21, 27269938: 27269939
4APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167
5APPNM_000484.3(APP): c.2018C> T (p.Ala673Val)single nucleotide variantPathogenicrs193922916GRCh37Chr 21, 27269931: 27269931
6MT-ND1m.3397A> Gsingle nucleotide variantPathogenicrs199476120GRCh37Chr MT, 3397: 3397

Expression for genes affiliated with Alzheimer Disease 1, Familial

About this section
Expression patterns in normal tissues for genes affiliated with Alzheimer Disease 1, Familial

Search GEO for disease gene expression data for Alzheimer Disease 1, Familial.

Pathways for genes affiliated with Alzheimer Disease 1, Familial

About this section

Compounds for genes affiliated with Alzheimer Disease 1, Familial

About this section
Sources:
50PharmGKB, 44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Alzheimer Disease 1, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isoflurane50 44 1111.2MT-ND1, APP
2FAD249.2MT-ND1, APP
3valine449.1MT-ND1, APP
4serine449.1MT-ND1, APP
5iron44 2410.0APP, MT-ND1
6alanine448.8MT-ND1, APP

GO Terms for genes affiliated with Alzheimer Disease 1, Familial

About this section

Products for genes affiliated with Alzheimer Disease 1, Familial

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Alzheimer Disease 1, Familial

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet