Alzheimer Disease Type 3 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 Type 3, also known as alzheimer disease 3, is related to alzheimer disease type 2 and early-onset familial alzheimer disease. An important gene associated with Alzheimer Disease Type 3 is PSEN1 (presenilin 1), and among its related pathways are Nuclear signaling by ERBB4 and Notch Signaling. The drugs galantamine hydrobromide and valproate sodium and the compounds aspartate and begacestat have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are nervous system and integument.

OMIM: 607822

alzheimer disease type 3 30 alzheimer disease 3 30 16 ad3 30 16 alzheimer disease early onset type 3 30

alzheimer disease, familial, type 3 43 alzheimer disease, type 3 33 alzheimer's disease 43 ad 3 16

Disease types for alzheimer's disease family:

alzheimer disease type 1	alzheimer disease type 2
alzheimer disease type 3	alzheimer disease type 4
alzheimer disease type 5	alzheimer disease 12
alzheimer disease-13	alzheimer disease 16
alzheimer disease 6	alzheimer disease 8
alzheimer disease-10	alzheimer disease-11
alzheimer disease-14	alzheimer disease-15
alzheimer disease-7

Diseases related to alzheimer disease type 3 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 343)

id	Related Disease	Score	Top Affiliating Genes
1	alzheimer disease type 2	32.5	PSEN2, PSEN1
2	early-onset familial alzheimer disease	31.0	PSEN1, PSEN2
3	alzheimer disease type 1	30.2	MAPT, PSEN1, PSEN2
4	parkinson's disease	30.0	PSEN1, IGF1, MAPT, INSR
5	pick's disease	29.9	MAPT, PSEN1
6	vascular dementia	28.9	MAPT, PSEN1
7	apraxia	28.1	MAPT, PSEN1
8	age related macular degeneration	27.9	PSEN2, PSEN1, IGF1
9	macular degeneration	27.8	IGF1, PSEN1, PSEN2
10	dementia	27.7	PSEN2, PSEN1, IGF1, MAPT, INSR
11	amyloidosis	27.7	PSEN2, PSEN1, MAPT
12	cholesterol	27.5	PSEN2, PSEN1, IGF1, MAPT, INSR
13	breast cancer	27.2	PSEN2, PSEN1, IGF1, MAPT, INSR
14	amyotrophic lateral sclerosis	26.9	MAPT, IGF1, PSEN1, PSEN2
15	lateral sclerosis	26.9	PSEN2, PSEN1, IGF1, MAPT
16	adenocarcinoma	26.7	INSR, MAPT, IGF1, PSEN1, PSEN2
17	pancreatitis	26.7	PSEN2, PSEN1, IGF1, MAPT, INSR
18	cataract	26.6	IGF1, PSEN1, PSEN2
19	twinning	26.4	PSEN1, IGF1, INSR
20	prion disease	26.3	MAPT, PSEN1, PSEN2
21	neurodegenerative disease	26.2	MAPT, PSEN1, PSEN2
22	cerebritis	26.2	PSEN2, PSEN1, IGF1, MAPT, INSR
23	inclusion body myositis	26.0	MAPT, PSEN1
24	alzheimer's disease	25.6	PSEN2, PSEN1, IGF1, MAPT, INSR
25	huntington's disease	25.6	MAPT, IGF1, PSEN1, PSEN2
26	memory impairment	25.3	MAPT, PSEN1
27	hypoxia	25.2	PSEN2, PSEN1, IGF1, INSR
28	homocysteine	25.2	PSEN1, IGF1, MAPT, INSR
29	schizophrenia	25.1	PSEN2, PSEN1, IGF1, MAPT, INSR
30	tauopathy	25.0	PSEN1, MAPT
31	cerebral amyloid angiopathy	24.7	PSEN2, PSEN1, MAPT
32	frontotemporal dementia	24.7	PSEN2, PSEN1, MAPT
33	myotonic dystrophy	24.4	INSR, MAPT, IGF1
34	neuroblastoma	24.4	PSEN2, PSEN1, IGF1, MAPT, INSR
35	ovarian cancer	24.2	PSEN2, IGF1, MAPT, INSR
36	down syndrome	23.9	MAPT, IGF1, PSEN1, PSEN2
37	malignant glioma	23.7	INSR, MAPT, PSEN1, PSEN2
38	ischemia	23.7	PSEN1, IGF1, MAPT, INSR
39	pancreatic cancer	23.5	PSEN1, IGF1, MAPT, INSR
40	neurodegeneration	23.0	INSR, MAPT, IGF1, PSEN1, PSEN2
41	ventricular septal defect	12.8	IGF1, PSEN1
42	rabson-mendenhall syndrome	12.8	INSR, IGF1
43	donohue syndrome	12.8	INSR, IGF1
44	fetal macrosomia	12.8	INSR, IGF1
45	fragile x-associated primary ovarian insufficiency	12.7	INSR, IGF1
46	acanthosis nigricans	12.7	INSR, IGF1
47	polycystic ovary syndrome	12.7	INSR, IGF1
48	hyperinsulinemic hypoglycemia	12.7	INSR, IGF1
49	pancreatic islet cell tumors	12.7	INSR, IGF1
50	alcoholic liver cirrhosis	12.6	INSR, IGF1

Clinical features from OMIM: 607822

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

Genetic tests related to alzheimer disease type 3:

id	Genetic test	Affiliating Genes
1	Alzheimer Disease Type 3 clinical/research	PSEN1

MalaCards organs/tissues related to alzheimer disease type 3:

²²

MGI Mouse Phenotypes related to alzheimer disease type 3:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	9.4	PSEN1, INSR
2	integument phenotype	MP:0010771	8.4	MAPT, PSEN2, PSEN1, IGF1
3	respiratory system phenotype	MP:0005388	8.3	INSR, PSEN1, IGF1, PSEN2
4	renal/urinary system phenotype	MP:0005367	8.3	PSEN2, MAPT, INSR, PSEN1
5	muscle phenotype	MP:0005369	8.1	PSEN1, INSR, MAPT, IGF1
6	normal phenotype	MP:0002873	8.1	PSEN2, IGF1, MAPT, PSEN1
7	endocrine/exocrine gland phenotype	MP:0005379	8.1	IGF1, PSEN1, PSEN2, INSR
8	cellular phenotype	MP:0005384	7.7	PSEN2, PSEN1, IGF1, MAPT, INSR
9	growth/size phenotype	MP:0005378	7.6	MAPT, INSR, PSEN2, PSEN1, IGF1
10	mortality/aging	MP:0010768	7.5	IGF1, MAPT, PSEN1, INSR, PSEN2

Articles related to alzheimer disease type 3:

id	Title	Authors	Year	Affiliating Genes
1	Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes? (15750215)	Steen E.... de la Monte S.M.	2005	INSR, MAPT, IGF1
2	Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. (7651536)	Rogaev E.I.... St George-Hyslop P.H.	1995	PSEN2, PSEN1

Genes related to alzheimer disease type 3 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PSEN1	presenilin 1	11.0	Publications
2	PSEN2	presenilin 2 (Alzheimer disease 4)	11.0	Publications
3	MAPT	microtubule-associated protein tau	11.0	Publications
4	INSR	insulin receptor	11.0	Publications
5	IGF1	insulin-like growth factor 1 (somatomedin C)	11.0	Publications

Pathways related to alzheimer disease type 3 according to GeneDecks:

(show all 15)

id	Pathway	Score	Top Affiliating Genes
1	Nuclear signaling by ERBB438	9.8	PSEN1, PSEN2
2	Notch Signaling36	9.7	PSEN2, PSEN1
3	Notch signaling pathway20	9.6	PSEN1, PSEN2
4	ErbB4 Pathway36	9.5	PSEN1, PSEN2
5	Development_Notch Signaling Pathway41	9.5	PSEN2, PSEN1
6	Development_MAG-dependent inhibition of neurite outgrowth41	9.4	PSEN2, PSEN1
7	Aldosterone-regulated sodium reabsorption20	9.3	IGF1, INSR
8	Transcription Receptor-mediated HIF regulation10	9.3	IGF1, INSR
9	Transcription_Receptor-mediated HIF regulation41	9.2	INSR, IGF1
10	Development_NOTCH1-mediated pathway for NF-KB activity modulation41	9.2	PSEN1, PSEN2
11	Alzheimers disease20	9.2	PSEN2, PSEN1, MAPT
12	Neuroscience3	9.1	PSEN2, PSEN1, MAPT
13	14-3-3 Induced Intracellular Signaling36	8.7	IGF1, MAPT, INSR
14	Molecular Mechanisms of Cancer36	8.4	PSEN2, INSR, IGF1, PSEN1
15	Alzheimers Disease Pathway36	8.3	INSR, PSEN2, PSEN1, MAPT

Compounds related to alzheimer disease type 3 according to GeneDecks:

(show all 46)

id	Compound	Score	Top Affiliating Genes
1	aspartate32	10.3	PSEN2
2	begacestat42	9.9	PSEN2, PSEN1
3	s-18232	9.9	PSEN1, PSEN2
4	mrk 56042	9.9	PSEN2, PSEN1
5	compound w42	9.9	PSEN1, PSEN2
6	jlk 642	9.9	PSEN1, PSEN2
7	dapt42	9.9	PSEN1, PSEN2
8	spec-t32	9.7	PSEN1, MAPT
9	raloxifene32 9 9	11.7	PSEN2, IGF1
10	valproate32	9.6	IGF1, MAPT
11	pq 40142	9.5	IGF1, INSR
12	demethylasterriquinone b142	9.5	IGF1, INSR
13	mecasermin32 9 9	11.5	IGF1, INSR
14	menadione32 9 18 9	12.5	IGF1, MAPT
15	ag 102432	9.5	IGF1, INSR
16	clomiphene citrate32	9.5	IGF1, INSR
17	4-hydroxytamoxifen32	9.4	IGF1, PSEN2
18	aicar32 42 9 18 9	13.4	IGF1, INSR
19	ryanodine32	9.4	PSEN2, PSEN1
20	l-nmma32	9.4	IGF1, INSR
21	c-peptide32	9.4	INSR
22	vitamin b1232	9.3	MAPT, IGF1, PSEN1
23	2-deoxyglucose32	9.2	INSR, IGF1
24	choline32 9 18 9	12.2	MAPT, PSEN1, PSEN2
25	phosphoserine32 18	10.2	MAPT, INSR
26	octreotide32 42 9 9	12.2	INSR, IGF1
27	metformin32 34 9 9	12.1	INSR, IGF1
28	biotin32 9 18 9	12.1	PSEN2, PSEN1, INSR
29	glycerol32 9 18 9	11.9	PSEN1, INSR, MAPT
30	nmda32 42	9.9	INSR, MAPT, PSEN1
31	cytochalasin d32 42	9.9	IGF1, MAPT, INSR
32	glycogen32 18	9.9	INSR, MAPT, PSEN1
33	glutamate32	8.9	MAPT, PSEN2, INSR
34	dopamine32 9 18 9	11.7	MAPT, IGF1, INSR
35	retinoic acid32 42 18	10.7	PSEN1, MAPT, IGF1, PSEN2
36	creatinine32	8.7	INSR, MAPT, IGF1
37	lactacystin32	8.5	MAPT, PSEN2, PSEN1, INSR
38	valine32	8.5	PSEN1, INSR, MAPT, PSEN2
39	glutamine32	8.5	PSEN1, MAPT, IGF1, INSR
40	h2o232	8.4	PSEN1, PSEN2, MAPT, INSR
41	actinomycin d32	8.4	IGF1, INSR, MAPT, PSEN2
42	arginine32	8.4	PSEN1, MAPT, INSR, IGF1
43	genistein32 9 18 9	11.4	INSR, IGF1, PSEN2, MAPT
44	estrogen32	8.3	INSR, MAPT, PSEN2, IGF1
45	cycloheximide32	8.0	INSR, PSEN2, PSEN1, IGF1, MAPT
46	serine32	7.9	IGF1, PSEN1, PSEN2, MAPT, INSR

Cellular components related to alzheimer disease type 3 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	kinetochore	GO:000776	9.5	PSEN1, PSEN2

Biological processes related to alzheimer disease type 3 according to GeneDecks:

(show all 32)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of coagulation	GO:050820	9.9	PSEN2, PSEN1
2	myeloid leukocyte differentiation	GO:002573	9.9	PSEN1, PSEN2
3	T cell activation involved in immune response	GO:002286	9.9	PSEN1, PSEN2
4	endoplasmic reticulum calcium ion homeostasis	GO:032469	9.9	PSEN1, PSEN2
5	amyloid precursor protein catabolic process	GO:042987	9.9	PSEN1, PSEN2
6	anagen	GO:042640	9.9	PSEN1, PSEN2
7	dorsal/ventral neural tube patterning	GO:021904	9.9	PSEN2, PSEN1
8	hemopoietic progenitor cell differentiation	GO:002244	9.9	PSEN2, PSEN1
9	brain morphogenesis	GO:048854	9.8	PSEN1, PSEN2
10	cell fate specification	GO:001708	9.8	PSEN1, PSEN2
11	regulation of protein binding	GO:043393	9.8	PSEN2, PSEN1
12	membrane protein intracellular domain proteolysis	GO:031293	9.8	PSEN1, PSEN2
13	Notch receptor processing	GO:007220	9.8	PSEN2, PSEN1
14	membrane protein ectodomain proteolysis	GO:006509	9.8	PSEN2, PSEN1
15	regulation of synaptic plasticity	GO:048167	9.8	PSEN1, PSEN2
16	thymus development	GO:048538	9.8	PSEN1, PSEN2
17	embryonic limb morphogenesis	GO:030326	9.7	PSEN2, PSEN1
18	protein processing	GO:016485	9.7	PSEN2, PSEN1
19	lung alveolus development	GO:048286	9.7	IGF1, PSEN2
20	somitogenesis	GO:001756	9.6	PSEN2, PSEN1
21	positive regulation of catalytic activity	GO:043085	9.6	PSEN2, PSEN1
22	exocrine pancreas development	GO:031017	9.5	INSR, IGF1
23	memory	GO:007613	9.5	PSEN1, PSEN2
24	T cell receptor signaling pathway	GO:050852	9.5	PSEN1, PSEN2
25	positive regulation of glycolysis	GO:045821	9.5	INSR, IGF1
26	positive regulation of glycogen biosynthetic process	GO:045725	9.5	INSR, IGF1
27	positive regulation of glucose import	GO:046326	9.4	IGF1, INSR
28	positive regulation of mitosis	GO:045840	9.4	IGF1, INSR
29	negative regulation of protein phosphorylation	GO:001933	9.4	INSR, PSEN2
30	positive regulation of DNA replication	GO:045740	9.2	INSR, IGF1
31	positive regulation of protein kinase B signaling cascade	GO:051897	9.0	INSR, IGF1
32	positive regulation of MAPK cascade	GO:043410	8.8	IGF1, INSR

Molecular functions related to alzheimer disease type 3 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	aspartic-type endopeptidase activity	GO:004190	9.5	PSEN1, PSEN2
2	insulin-like growth factor receptor binding	GO:005159	8.8	INSR, IGF1