Alzheimer Disease Familial malady

NIH Rare Diseases: Alzheimer disease is a degenerative disease of the brain that causes gradual loss of memory, judgment, and ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic Alzheimer disease begins after age 65, and the risk of developing this condition increases as a person gets older. The remaining cases of Alzheimer disease are familial, which means they are found in multiple members of a family. Familial Alzheimer disease can be divided into early-onset disease (symptoms begin before age 65) and late-onset disease (symptoms begin after age 65).³⁰

MalaCards: Alzheimer Disease Familial, also known as familial alzheimer disease, is related to vascular dementia and cerebral amyloid angiopathy. An important gene associated with Alzheimer Disease Familial is ITM2B (integral membrane protein 2B), and among its related pathways are Nuclear signaling by ERBB4 and ErbB4 Pathway. The drugs galantamine hydrobromide and valproate sodium and the compounds glucose and s-182 have been mentioned in the context of this disorder. Affiliated tissues include brain and temporal lobe, and related mouse phenotypes are nervous system and growth/size.

Wikipedia: Early-onset Alzheimer\'s disease, also called early-onset Alzheimer\'s, or early-onset AD, is the term...⁴⁴ more...

alzheimer disease familial 30 familial alzheimer disease 30

alzheimer's disease 43 fad 30

Disease types for alzheimer disease familial family:

alzheimer disease 1, familial

Diseases related to alzheimer disease familial by text searches and GeneDecks gene sharing:

(show top 50)    (show all 210)

id	Related Disease	Score	Top Affiliating Genes
1	vascular dementia	35.0	PRNP, PSEN1, MAPT, APP, APOE
2	cerebral amyloid angiopathy	34.3	APOE, APP
3	dementia	33.7	CLU, ITM2B, APOE, APP, MAPT, IDE
4	pick's disease	33.4	MAPT, PSEN1
5	down syndrome	33.3	SORL1, PRNP, PSEN2, PSEN1, TFCP2, IDE
6	early-onset familial alzheimer disease	33.3	PSEN2, PSEN1, APP
7	tauopathy	32.9	APP, MAPT, PSEN1
8	lewy body dementia	32.7	MAPT, APP, APOE
9	parkinson's disease	32.4	SORL1, PRNP, PSEN1, TTR, IDE, MAPT
10	alzheimer's disease	31.8	TFCP2, APP, APOE
11	progressive supranuclear palsy	31.8	PRNP, MAPT, APP, APOE
12	cerebral hemorrhage	31.7	APOE, APP, PSEN1
13	cerebrovascular disease	31.5	APOE, APP, MAPT
14	frontotemporal dementia	31.3	SORL1, PRNP, PSEN2, PSEN1, MAPT, APP
15	supranuclear palsy	31.3	APOE, APP, MAPT, PRNP
16	cholesterol	31.1	SORL1, PRNP, PSEN2, PSEN1, TFCP2, TTR
17	cerebritis	30.9	SORL1, PRNP, PSEN2, PSEN1, TFCP2, TTR
18	neurodegeneration	30.9	PRNP, CLU, ITM2B, APOE, APP, MAPT
19	multiple system atrophy	30.9	APOE, MAPT, PRNP
20	memory impairment	30.8	PRNP, PSEN1, MAPT, APP, APOE
21	normal pressure hydrocephalus	30.8	MAPT, APOE
22	homocysteine	30.8	PSEN1, TTR, MAPT, APP, APOE, CLU
23	hereditary cerebral hemorrhage with amyloidosis	30.8	APP, PSEN1
24	insulin resistance	30.2	TTR, IDE, APP, APOE, CLU
25	was-related disorders	30.1	PRNP, MAPT, APP, APOE
26	multiple sclerosis	29.5	PRNP, NRG1, MAPT, APP, APOE, ITM2B
27	amyotrophic lateral sclerosis	29.3	PRNP, PSEN2, PSEN1, MAPT, APP, APOE
28	lateral sclerosis	29.3	PRNP, PSEN2, PSEN1, MAPT, APP, APOE
29	huntington's disease	29.3	PRNP, PSEN2, PSEN1, MAPT, APP, APOE
30	hydrocephalus	29.2	APOE, APP, MAPT
31	cadasil	29.1	PRNP, PSEN1, MAPT, APOE
32	type 2 diabetes mellitus	29.0	TTR, IDE, APOE, CDKN2A, CLU
33	prion disease	29.0	PRNP, PSEN2, PSEN1, MAPT, APP, APOE
34	amyloidosis	28.9	PSEN2, PRNP, SORL1, CLU, ITM2B, APOE
35	diabetes mellitus	28.9	TTR, IDE, MAPT, APP, APOE, CDKN2A
36	alzheimer disease type 2	28.8	PSEN2, PSEN1, APOE
37	alzheimer disease type 3	28.8	PSEN2, PSEN1, MAPT
38	blindness	28.7	PRNP, TTR, NRG1, IDE, MAPT, APOE
39	binswanger's disease	28.7	APP, APOE
40	alzheimer disease type 1	28.7	PSEN2, PSEN1, MAPT, APP, APOE
41	gliosis	28.7	PRNP, NRG1, MAPT, APP
42	twinning	28.5	PSEN1, TTR, NRG1, APOE, CDKN2A
43	neuroblastoma	28.4	PRNP, PSEN2, PSEN1, IDE, MAPT, APP
44	cognitive disease	28.2	APOE, APP, MAPT
45	cataract	28.1	ITM2B, APOE, PSEN1, PSEN2
46	obesity	28.0	PRNP, TTR, IDE, APP, APOE, CDKN2A
47	cerebral atrophy	27.9	APOE, MAPT
48	arteriosclerosis	27.7	APOE, APP, TTR
49	aphasia	27.5	PRNP, MAPT, APP, APOE
50	schizophrenia	27.5	PRNP, PSEN2, PSEN1, TTR, NRG1, IDE

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 divalproex, divalproex sodium, donepezil, donepezil hydrochloride, galantamine, galantamine hydrobromide, rivastigmine, rivastigmine tartrate, selegiline, selegiline hydrochloride, tacrine, tacrine hydrochloride, valproate sodium, valproic acid

MalaCards organs/tissues related to alzheimer disease familial:

²²

MGI Mouse Phenotypes related to alzheimer disease familial:

²⁵ (show all 11)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	9.3	NRG1, ITM2B, PSEN1, SORL1
2	growth/size phenotype	MP:0005378	8.5	APOE, PRNP, PSEN2, PSEN1, MAPT
3	no phenotypic analysis	MP:0003012	7.9	PRNP, ITM2B, APOE, APP, MAPT, TTR
4	vision/eye phenotype	MP:0005391	7.3	CDKN2A, APOE, MAPT, NRG1, PSEN1, PSEN2
5	integument phenotype	MP:0010771	7.1	MAPT, CDKN2A, APOE, APP, NRG1, PSEN1
6	other phenotype	MP:0005395	6.7	CDKN2A, CLU, MAPT, APP, APOE, IDE
7	immune system phenotype	MP:0005387	6.7	PSEN2, CLU, PSEN1, MAPT, APP, APOE
8	behavior/neurological phenotype	MP:0005386	6.5	PSEN2, PSEN1, NRG1, MAPT, APP, ITM2B
9	muscle phenotype	MP:0005369	6.4	PRNP, APOE, SORL1, PSEN1, NRG1, MAPT
10	cellular phenotype	MP:0005384	6.2	CDKN2A, MAPT, PRNP, PSEN2, PSEN1, NRG1
11	homeostasis/metabolism phenotype	MP:0005376	6.0	CDKN2A, PRNP, SORL1, CLU, APOE, APP

Articles related to alzheimer disease familial:

(show all 15)

id	Title	Authors	Year	Affiliating Genes
1	Linkage to the 8p21.1 region Including the CLU gene i n age at onset stratified alzheimer's disease families. (20930273)	SillAcn A.... Graff C.	2011	CLU
2	Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families. (19328595)	Cuenco K.T.... Farrer L.A.	2009	TTR
3	Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3. (18761660)	Zuchner S.... Pericak-Vance M.A.	2008	CDKN2A
4	Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci. (19001172)	Lee J.H.... Mayeux R.	2008	APOE
5	Decreased catalytic activity of the insulin-degrading enzyme in chromosome 10-linked Alzheimer disease families. (17244626)	Kim M.... Tanzi R.E.	2007	IDE
6	LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. (16957580)	Dodson S.E.... Lah J.J.	2006	SORL1
7	The influence of Alzheimer disease family history and apolipoprotein E epsilon4 on mesial temporal lobe activation. (16738250)	Johnson S.C.... Sager M.A.	2006	APOE
8	Hydrogen peroxide is generated during the very early stages of aggregation of the amyloid peptides implicated in Alzheimer disease and familial British dementia. (16141213)	Tabner B.J.... Allsop D.	2005	APP, ITM2B
9	Neuregulin-1 polymorphism in late onset Alzheimer's disease families with psychoses. (16082692)	Go R.C.... Sweet R.A.	2005	NRG1
10	APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. (15389756)	Wijsman E.M.... Schellenberg G.D.	2005	PSEN2
11	Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families. (16272261)	Bertram L.... Tanzi R.E.	2005	TFCP2
12	Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination? (10854108)	Hiltunen M.... Soininen H.	2000	PSEN1
13	Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles. (8811124)	Spillantini M.G.... Goedert M.	1996	MAPT
14	Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. (8733303)	Kamino K.... Ogihara T.	1996	PSEN1
15	SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family. (7485229)	Perry R.T.... Acton R.T.	1995	PRNP

Genes related to alzheimer disease familial according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	ITM2B	integral membrane protein 2B	11.0	Publications
2	IDE	insulin-degrading enzyme	11.0	Publications
3	PSEN2	presenilin 2 (Alzheimer disease 4)	11.0	Publications
4	CLU	clusterin	11.0	Publications
5	SORL1	sortilin-related receptor, L(DLR class) A repeats containing	11.0	Publications
6	TFCP2	transcription factor CP2	11.0	Publications
7	PSEN1	presenilin 1	11.0	Publications
8	APOE	apolipoprotein E	11.0	Publications
9	TTR	transthyretin	11.0	Publications
10	PRNP	prion protein	11.0	Publications
11	MAPT	microtubule-associated protein tau	11.0	Publications
12	APP	amyloid beta (A4) precursor protein	11.0	Publications
13	CDKN2A	cyclin-dependent kinase inhibitor 2A	11.0	Publications
14	NRG1	neuregulin 1	11.0	Publications

Pathways related to alzheimer disease familial according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Nuclear signaling by ERBB438	9.6	PSEN1, PSEN2
2	ErbB4 Pathway36	9.4	PSEN2, PSEN1, NRG1
3	Presenilin-Mediated Signaling36	9.2	APP, PSEN1, PSEN2
4	Reelin Pathway (Cajal-Retzius cells)36	8.9	MAPT, APP, APOE
5	Neuroscience3	8.7	PSEN2, APP, MAPT, PSEN1
6	DHA Signaling36	8.7	APP, MAPT, IDE, NRG1
7	Alzheimers Disease Pathway36	8.5	PSEN2, APP, MAPT, PSEN1, APOE
8	Alzheimers disease20	8.2	APP, MAPT, IDE, PSEN1, PSEN2, APOE

Compounds related to alzheimer disease familial according to GeneDecks:

(show top 50)    (show all 77)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.5	IDE
2	s-18232	10.0	PSEN1, PSEN2
3	mrk 56042	10.0	PSEN2, PSEN1
4	begacestat42	10.0	PSEN1, PSEN2
5	jlk 642	9.9	PSEN2, PSEN1
6	ab-4232	9.8	PSEN2, APP
7	compound w42	9.8	PSEN2, PSEN1
8	dapt42	9.7	PSEN2, PSEN1, APP
9	thioflavin t32	9.4	APP, TTR, APOE
10	thioflavine s32	9.4	MAPT, APP, APOE
11	tacrine32 9 9	11.3	APOE, APP, MAPT
12	donepezil32 9 18 9	12.3	MAPT, APOE, APP
13	homocysteine32 18	10.3	APOE, PSEN1, TTR, CLU
14	galantamine32 34 9 9	12.3	APP, MAPT, APOE
15	spec-t32	9.2	PSEN1, APOE, MAPT
16	kainate32	9.2	CLU, MAPT, APOE, PSEN1
17	vitamin b1232	9.2	MAPT, PSEN1, TTR, APOE
18	guanidine32 9 18 9	12.1	MAPT, APOE, PRNP, TTR
19	chloroquine32 34 9 9	12.0	APOE, APP, MAPT, IDE
20	thioflavin32	9.0	APP, MAPT
21	4-hydroxynonenal32 18	9.9	APP, MAPT, PSEN1, APOE
22	biotin32 9 18 9	11.9	PSEN2, CDKN2A, APOE, PSEN1
23	alanine32	8.9	NRG1, TTR, CDKN2A, IDE
24	formate32	8.9	APOE, MAPT, PRNP, APP
25	aspartate32	8.8	APOE, CDKN2A, PSEN2, APP
26	choline32 9 18 9	11.8	PSEN1, PSEN2, MAPT, APP
27	lactacystin32	8.8	APOE, APP, MAPT, PSEN2, PSEN1
28	sodium dodecylsulfate32	8.5	TTR, APP, PRNP, APOE, MAPT
29	glutamate32	8.5	NRG1, IDE, MAPT, APP, CLU, PSEN2
30	cysteine32	8.4	NRG1, MAPT, CDKN2A, CLU, PSEN1
31	nmda32 42	9.4	APOE, MAPT, PSEN1, APP, NRG1
32	glutamine32	8.3	IDE, TTR, PSEN1, APOE, MAPT, APP
33	proline32	8.3	PSEN1, NRG1, TTR, MAPT, CLU, PRNP
34	heparin32 9 18 9	11.0	APOE, MAPT, NRG1, CLU, APP, PRNP
35	leucine32	8.0	CDKN2A, NRG1, PRNP, IDE, TTR, PSEN1
36	paclitaxel32 34 9 9	10.8	PSEN2, NRG1, APP, CDKN2A, CLU, MAPT
37	cycloheximide32	7.7	PSEN2, NRG1, MAPT, APOE, CDKN2A, CLU
38	estrogen32	7.6	CLU, PSEN2, TTR, NRG1, MAPT, CDKN2A
39	folate32	7.5	APOE, PSEN1, TTR, MAPT, APP, CLU
40	actinomycin d32	7.5	NRG1, CLU, CDKN2A, PSEN2, APOE, APP
41	dopamine32 9 18 9	10.3	APP, MAPT, CLU, CDKN2A, TTR, NRG1
42	paraffin32	7.3	MAPT, PSEN2, PRNP, TTR, NRG1, APOE
43	h2o232	7.2	PRNP, CLU, MAPT, PSEN2, APP, APOE
44	lipid32	7.1	APP, PRNP, CLU, CDKN2A, APOE, IDE
45	testosterone32 9 18 9	10.1	NRG1, CLU, APOE, APP, MAPT, IDE
46	arginine32	7.1	MAPT, IDE, TTR, PSEN1, PRNP, APP
47	retinoic acid32 42 18	9.1	PSEN1, PSEN2, CLU, TTR, NRG1, MAPT
48	valine32	6.9	CDKN2A, APOE, APP, MAPT, IDE, TTR
49	cholesterol32 9 18 9	9.8	TTR, PRNP, PSEN2, NRG1, APP, APOE
50	serine32	6.0	CDKN2A, PSEN2, PSEN1, NRG1, IDE, TTR

Cellular components related to alzheimer disease familial according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	low-density lipoprotein particle	GO:034362	9.8	APOE, SORL1
2	extracellular space	GO:005615	8.3	CLU, ITM2B, APOE, IDE, NRG1, TTR
3	Golgi apparatus	GO:005794	8.2	PRNP, PSEN2, PSEN1, APP, ITM2B

Biological processes related to alzheimer disease familial according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of coagulation	GO:050820	10.2	PSEN2, PSEN1
2	myeloid leukocyte differentiation	GO:002573	10.2	PSEN1, PSEN2
3	T cell activation involved in immune response	GO:002286	10.2	PSEN2, PSEN1
4	endoplasmic reticulum calcium ion homeostasis	GO:032469	10.1	PSEN1, PSEN2
5	amyloid precursor protein catabolic process	GO:042987	10.1	PSEN1, PSEN2
6	anagen	GO:042640	10.1	PSEN2, PSEN1
7	dorsal/ventral neural tube patterning	GO:021904	10.1	PSEN1, PSEN2
8	brain morphogenesis	GO:048854	10.0	PSEN2, PSEN1
9	hemopoietic progenitor cell differentiation	GO:002244	10.0	PSEN2, PSEN1
10	cell fate specification	GO:001708	10.0	PSEN1, PSEN2
11	regulation of protein binding	GO:043393	9.9	PSEN1, PSEN2
12	regulation of epidermal growth factor-activated receptor activity	GO:007176	9.9	APP, PSEN2
13	Notch receptor processing	GO:007220	9.9	PSEN2, PSEN1
14	reverse cholesterol transport	GO:043691	9.7	CLU, APOE
15	negative regulation of ubiquitin-protein ligase activity	GO:051444	9.6	PSEN1, CDKN2A
16	cellular copper ion homeostasis	GO:006878	9.6	APP, PRNP
17	axon cargo transport	GO:008088	9.6	APP, MAPT
18	membrane protein intracellular domain proteolysis	GO:031293	9.6	PSEN1, PSEN2
19	Notch signaling pathway	GO:007219	9.2	PSEN1, APP, PSEN2
20	anti-apoptosis	GO:006916	9.1	APOE, PRNP, PSEN1, NRG1

Molecular functions related to alzheimer disease familial according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	5.4	CLU, PSEN2, PSEN1, TTR, NRG1, IDE