Early-onset Familial Alzheimer Disease malady

MalaCards: Early-onset Familial Alzheimer Disease, also known as EOFAD, is related to alzheimer's disease and alzheimer disease type 3. An important gene associated with Early-onset Familial Alzheimer Disease is TMED10 (transmembrane emp24-like trafficking protein 10 (yeast)), and among its related pathways are Biosynthesis of unsaturated fatty acids and Nuclear signaling by ERBB4. The compounds oleoyl-coa and begacestat have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews summary for alzheimer-early

early-onset familial alzheimer disease 15 16 eofad 15 16 alzheimer disease, early onset 43

familial presenile dementia 16 familial dementia 43

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

(show all 34)

id	Related Disease	Score	Top Affiliating Genes
1	alzheimer's disease	31.0	APP, HFE
2	alzheimer disease type 3	30.4	PSEN1, PSEN2
3	alzheimer disease type 1	29.2	CST3, PSEN2, PSEN1, APP
4	alzheimer disease type 2	13.1	PSEN2, PSEN1
5	familial idiopathic basal ganglia calcification	12.4	APP, PSEN1, PSEN2
6	basal ganglia calcification	12.4	PSEN2, PSEN1, APP
7	tauopathy	12.3	PSEN1, APP
8	prion disease	12.2	PSEN2, PSEN1, APP
9	hereditary cerebral hemorrhage with amyloidosis	12.2	CST3, PSEN1, APP
10	frontotemporal dementia	12.2	PSEN2, PSEN1, APP
11	cerebral hemorrhage	12.2	APP, PSEN1, CST3
12	huntington's disease	12.2	PSEN2, PSEN1, APP
13	al amyloidosis	12.1	APP, CST3
14	creutzfeldt-jakob syndrome	12.1	APP, CST3
15	inclusion body myositis	12.1	APP, PSEN1, CST3
16	vascular dementia	12.1	CST3, PSEN1, APP
17	inclusion body myopathy	12.1	PSEN1, APP
18	headache	11.9	APP, HFE, PSEN1
19	amyloid tumor	11.9	CST3, PSEN2, PSEN1, APP
20	cerebral amyloid angiopathy	11.8	APP, PSEN1, PSEN2, CST3
21	amyloidosis	11.8	CST3, PSEN2, PSEN1, APP
22	cataract	11.8	CST3, PSEN2, PSEN1, HFE
23	astrocytoma	11.4	NUMB, PSEN2, PSEN1, APP, MLH3
24	age related macular degeneration	11.2	CST3, PSEN2, PSEN1, HFE, APP
25	neurodegenerative disease	11.1	CST3, PSEN2, PSEN1, HFE, APP
26	amyotrophic lateral sclerosis	11.1	CST3, PSEN2, PSEN1, HFE, APP
27	lateral sclerosis	11.1	CST3, PSEN2, PSEN1, HFE, APP
28	macular degeneration	10.8	CST3, PSEN2, PSEN1, HFE, APP, YLPM1
29	dementia	8.1
30	spastic paraparesis	7.6
31	spasticity	7.6
32	seizures	7.6
33	alzheimer disease familial	7.2
34	neuronitis	5.5

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to early-onset familial alzheimer disease:

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Articles related to early-onset familial alzheimer disease:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. (18580586)	Rudzinski L.A.... Graff-Radford N.R.	2008	PSEN1
2	Association between HFE 187 C>G (H63D) mutation and early-onset familial Alzheimer's disease PSEN-1 839A>C (E280A) mutation. (18327584)	Avila-Gomez I.C.... Velez-Pardo C.	2008	HFE
3	A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease. (17594345)	Knight W.D.... Mummery C.	2007	PSEN1
4	The -22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer's disease in Poland. (15480851)	Zekanowski C.... Barcikowska M.	2005	PSEN1
5	Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. (14623725)	Tedde A.... Sorbi S.	2003	PSEN2, PSEN1
6	Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. (12112163)	Goldman J.S.... Miller B.L.	2002	PSEN1
7	Brain expression of presenilins in sporadic and early-onset, familial Alzheimer's disease. (11126202)	Mathews P.M.... Nixon R.A.	2000	PSEN2, PSEN1
8	Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. (9712537)	Morelli L.... Castano E.M.	1998	PSEN1
9	Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene. (9197277)	Ishii K.... Mori H.	1997	PSEN1
10	Two homologous genes causing early-onset familial Alzheimer's disease. (9246482)	Sr George-Hyslop P.H.... Fraser P.E.	1996	PSEN1
11	Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease. (8910899)	Barton A.J.... Roberts G.W.	1996	PSEN1
12	Presenilin-1 (S182) causative gene of early-onset familial Alzheimer's disease (8741394)	Ikeda M.	1996	PSEN1
13	Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. (7596406)	Sherrington R.... Holman K.	1995	PSEN1, EIF2B2, NUMB
14	The Cystatin-C gene is not linked to early onset familial Alzheimer's disease. (8361651)	Parfitt M.... Chartier-Harlin M.C.	1993	CST3

Genes related to early-onset familial alzheimer disease according to GeneCards:

(show all 16)

id	Symbol	Description	Score	GeneCards Section Context
1	TMED10	transmembrane emp24-like trafficking protein 10 (yeast)	11.1	Publications, Summaries
2	ACOT4	acyl-CoA thioesterase 4	11.0	Publications
3	ACOT2	acyl-CoA thioesterase 2	11.0	Publications
4	MLH3	mutL homolog 3 (E. coli)	11.0	Publications
5	EIF2B2	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	11.0	Publications
6	PSEN1	presenilin 1	11.0	Publications
7	RBM25	RNA binding motif protein 25	11.0	Publications
8	EBNA1BP2	EBNA1 binding protein 2	11.0	Publications
9	VPS41	vacuolar protein sorting 41 homolog (S. cerevisiae)	11.0	Publications
10	YLPM1	YLP motif containing 1	11.0	Publications
11	PSEN2	presenilin 2 (Alzheimer disease 4)	11.0	Publications
12	NUMB	numb homolog (Drosophila)	11.0	Publications
13	HFE	hemochromatosis	11.0	Publications
14	CST3	cystatin C	11.0	Publications
15	RGS6	regulator of G-protein signaling 6	11.0	Publications
16	APP	amyloid beta (A4) precursor protein	11.0

Pathways related to early-onset familial alzheimer disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Biosynthesis of unsaturated fatty acids20	10.0	ACOT2, ACOT4
2	Nuclear signaling by ERBB438	9.8	PSEN2, PSEN1
3	Notch signaling pathway20	9.4	NUMB, PSEN1, PSEN2
4	Alzheimers Disease Pathway36	9.4	PSEN2, PSEN1, APP
5	Wnt / Hedgehog / Notch3	9.2	NUMB, PSEN2, PSEN1
6	Presenilin-Mediated Signaling36	9.0	APP, PSEN1, PSEN2
7	Neuroscience3	8.7	APP, TMED10, PSEN1, PSEN2, NUMB

Compounds related to early-onset familial alzheimer disease according to GeneDecks:

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	oleoyl-coa32 18	11.2	ACOT4, ACOT2
2	begacestat42	10.1	PSEN2, PSEN1
3	s-18232	10.0	PSEN1, PSEN2
4	mrk 56042	10.0	PSEN2, PSEN1
5	compound w42	10.0	PSEN1, PSEN2
6	jlk 642	10.0	PSEN1, PSEN2
7	gamma-linolenic acid32 18	10.9	ACOT2, ACOT4
8	ab-4232	9.8	APP, PSEN2
9	eicosapentaenoic acid32 18	10.7	ACOT4, ACOT2
10	dapt42	9.6	APP, PSEN1, PSEN2
11	lactacystin32	9.3	APP, PSEN1, PSEN2
12	choline32 9 18 9	12.3	APP, PSEN1, PSEN2
13	uric acid32 18	10.2	CST3, PSEN1, HFE
14	aspartate32	8.3	APP, HFE, PSEN1, CST3, PSEN2
15	cholesterol32 9 18 9	11.2	CST3, HFE, APP, PSEN2, PSEN1

Cellular components related to early-onset familial alzheimer disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	gamma-secretase complex	GO:070765	9.7	TMED10, PSEN1
2	early endosome	GO:005769	9.2	VPS41, HFE, NUMB

Biological processes related to early-onset familial alzheimer disease according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	very long-chain fatty acid metabolic process	GO:000038	10.2	ACOT2, ACOT4
2	acyl-CoA metabolic process	GO:006637	10.1	ACOT4, ACOT2
3	positive regulation of coagulation	GO:050820	10.1	PSEN1, PSEN2
4	myeloid leukocyte differentiation	GO:002573	10.1	PSEN1, PSEN2
5	T cell activation involved in immune response	GO:002286	10.1	PSEN2, PSEN1
6	endoplasmic reticulum calcium ion homeostasis	GO:032469	10.1	PSEN1, PSEN2
7	amyloid precursor protein catabolic process	GO:042987	10.1	PSEN1, PSEN2
8	anagen	GO:042640	10.1	PSEN2, PSEN1
9	dorsal/ventral neural tube patterning	GO:021904	10.0	PSEN1, PSEN2
10	hemopoietic progenitor cell differentiation	GO:002244	10.0	PSEN1, PSEN2
11	long-chain fatty acid metabolic process	GO:001676	10.0	ACOT4, ACOT2
12	brain morphogenesis	GO:048854	10.0	PSEN1, PSEN2
13	regulation of protein binding	GO:043393	10.0	PSEN2, PSEN1
14	cell fate specification	GO:001708	9.9	PSEN1, PSEN2
15	membrane protein intracellular domain proteolysis	GO:031293	9.9	PSEN2, PSEN1
16	regulation of epidermal growth factor-activated receptor activity	GO:007176	9.8	APP, PSEN2
17	regulation of synaptic plasticity	GO:048167	9.8	PSEN2, PSEN1
18	Notch receptor processing	GO:007220	9.7	PSEN1, PSEN2
19	membrane protein ectodomain proteolysis	GO:006509	9.5	PSEN1, PSEN2
20	Notch signaling pathway	GO:007219	9.1	NUMB, APP, PSEN1, PSEN2

Molecular functions related to early-onset familial alzheimer disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acyl-CoA hydrolase activity	GO:047617	10.0	ACOT4, ACOT2
2	palmitoyl-CoA hydrolase activity	GO:016290	9.9	ACOT4, ACOT2
3	aspartic-type endopeptidase activity	GO:004190	9.8	PSEN2, PSEN1
4	protein binding	GO:005515	6.1	CST3, PSEN2, PSEN1, HFE, EIF2B2, TMED10