Early-Onset, Autosomal Dominant Alzheimer Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FAD MCID: ERL029 MIFTS: 51	Early-Onset, Autosomal Dominant Alzheimer Disease (FAD) Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:

Name: Early-Onset, Autosomal Dominant Alzheimer Disease ⁵²

Early-Onset Autosomal Dominant Alzheimer Disease ⁵² ⁵⁸ ²⁹ ⁶

Familial Alzheimer Disease ⁵² ⁵⁸ ⁷¹

Early-Onset Familial Autosomal Dominant Alzheimer Disease ⁵² ⁵⁸

Eofad ⁵² ⁵⁸

Fad ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Other degenerative diseases of the nervous system

Alzheimer disease

Alzheimer disease with early onset

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G30.0

UMLS via Orphanet ⁷² C0276496

Orphanet ⁵⁸ ORPHA1020

UMLS ⁷¹ C0276496

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Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

NIH Rare Diseases : ⁵² Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. There are three subtypes of early-onset familial AD which are each associated with changes (mutations ) in unique genes : (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene. All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.

MalaCards based summary : Early-Onset, Autosomal Dominant Alzheimer Disease, also known as early-onset autosomal dominant alzheimer disease, is related to alzheimer disease 2 and alzheimer disease 3. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Alzheimers Disease and Presenilin-Mediated Signaling. The drugs Dopamine and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are hallucinations and hypertonia

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Related Diseases for Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2	Alzheimer Disease 16
Alzheimer Disease 5	Alzheimer Disease 6
Alzheimer Disease 7	Alzheimer Disease 4
Alzheimer Disease 8	Alzheimer Disease 3
Alzheimer Disease 9	Alzheimer Disease 10
Alzheimer Disease 11	Alzheimer Disease 12
Alzheimer Disease 13	Alzheimer Disease 14
Alzheimer Disease 15	Alzheimer Disease 17
Alzheimer Disease 18	Alzheimer Disease 19
Alzheimer's Disease 1	Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)

#	Related Disease	Score	Top Affiliating Genes
1	alzheimer disease 2	33.1	PSEN2 PSEN1 APP
2	alzheimer disease 3	33.0	PSEN2 PSEN1
3	alzheimer disease 4	29.7	PSEN2 PSEN1 ABCA7
4	familial isolated dilated cardiomyopathy	29.6	PSEN2 PSEN1
5	cerebral amyloid angiopathy, app-related	29.5	PSEN2 PSEN1 APP
6	cerebral amyloid angiopathy, cst3-related	29.4	PSEN2 PSEN1 APP
7	supranuclear palsy, progressive, 1	28.9	TREM2 PSEN2 PSEN1 APP
8	parkinson disease, late-onset	28.7	SORL1 PSEN2 PSEN1 APP
9	dementia	28.0	TREM2 SORL1 PSEN2 PSEN1 APP ABCA7
10	alzheimer disease	27.2	TREM2 TOMM40 SORL1 PSEN2 PSEN1 APP
11	frontotemporal dementia	27.0	TREM2 TOMM40 SORL1 PSEN2 PSEN1 APP
12	down syndrome	10.1
13	alzheimer's disease 1	10.1
14	clivus meningioma	10.1	PSEN2 APP
15	visual agnosia	10.1	PSEN2 PSEN1
16	kohlschutter-tonz syndrome	10.1	PSEN1 APP
17	communicating hydrocephalus	10.1	PSEN1 APP
18	progressive non-fluent aphasia	10.0	TREM2 PSEN1
19	myoclonus	10.0
20	semantic dementia	10.0	TREM2 PSEN1
21	amnestic disorder	10.0	PSEN1 APP
22	ataxia and polyneuropathy, adult-onset	9.9
23	amyloidosis	9.9
24	meningoencephalitis	9.9	PSEN1 APP
25	conjunctival folliculosis	9.9	PSEN2 ABCA7
26	leukoencephalopathy, hereditary diffuse, with spheroids	9.9	TREM2 APP
27	alzheimer disease 9	9.9	PSEN1 ABCA7
28	simultanagnosia	9.9	PSEN2 ABCA7
29	normal pressure hydrocephalus	9.9	PSEN1 APP
30	shipyard eye	9.9	PSEN2 ABCA7
31	cerebral amyloid angiopathy, itm2b-related, 1	9.8	PSEN2 PSEN1 APP
32	ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	9.8	PSEN2 PSEN1 APP
33	gerstmann-straussler disease	9.8	PSEN2 PSEN1 APP
34	toxic encephalopathy	9.8	PSEN1 APP
35	prion disease	9.8	PSEN2 PSEN1 APP
36	amyotrophic lateral sclerosis 1	9.8
37	creutzfeldt-jakob disease	9.8
38	multiple system atrophy 1	9.8
39	ataxia-telangiectasia	9.8
40	metachromatic leukodystrophy	9.8
41	nephronophthisis 1	9.8
42	stroke, ischemic	9.8
43	alzheimer disease 5	9.8
44	alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology	9.8
45	cardiomyopathy, dilated, 1v	9.8
46	leukodystrophy	9.8
47	pertussis	9.8
48	visual epilepsy	9.8
49	allergic hypersensitivity disease	9.8
50	telangiectasis	9.8

Graphical network of the top 20 diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease:

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Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

⁵⁸ ³¹ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hallucinations ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000738
2	hypertonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001276
3	myoclonus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001336
4	memory impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002354
5	cerebral cortical atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002120
6	abnormal social behavior ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012433
7	confusion ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001289
8	parkinsonism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001300
9	agitation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000713
10	language impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002463
11	neurofibrillary tangles ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002185
12	deposits immunoreactive to beta-amyloid protein ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003791
13	seizure ³¹	hallmark (90%)		HP:0001250
14	disinhibition ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000734
15	intellectual disability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001249
16	ataxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001251
17	abnormality of vision ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000504
18	dysgraphia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010526
19	aphasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002381
20	oculomotor apraxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000657
21	finger agnosia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010525
22	semantic dementia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030219
23	seizures ⁵⁸		Very frequent (99-80%)
24	dementia ⁵⁸		Very frequent (99-80%)
25	abnormality of higher mental function ⁵⁸		Occasional (29-5%)
26	apraxia ⁵⁸		Occasional (29-5%)
27	neurodevelopmental abnormality ⁵⁸		Very frequent (99-80%)

MGI Mouse Phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.1	ABCA7 APP PSEN1 PSEN2 SORL1 TREM2

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Drugs & Therapeutics for Early-Onset, Autosomal Dominant Alzheimer Disease

Drugs for Early-Onset, Autosomal Dominant Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Dopamine

Approved

Phase 1, Phase 2

51-61-6, 62-31-7

681

Synonyms:

(3H)-Dopamine

.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane

.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride

1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)

1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride

1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium

153C5321-5FEE-4B0B-8925-F388F0EEEBD1

2-(3,4-dihydroxyphenyl)ethylamine

2-(3,4-Dihydroxyphenyl)ethylamine

2-benzenediol

3,4 Dihydroxyphenethylamine

3,4-dihydroxyphenethylamine

3,4-Dihydroxyphenethylamine

3,4-Dihydroxyphenethylamine hydrochloride

3,4-Dihydroxyphenylethylamine

3-Hydroxtyramine

3-Hydroxytyramine

3-Hydroxytyramine Hydrobromide

3-Hydroxytyramine hydrochloride

4-(2-Aminoethyl)-1,

4-(2-aminoethyl)-1,2-benzenediol

4-(2-Aminoethyl)-1,2-benzenediol

4-(2-Aminoethyl)-1,2-bezenediol

4-(2-Aminoethyl)benzene-1,2-diol

4-(2-aminoethyl)catechol

4-(2-Aminoethyl)catechol

4-(2-aminoethyl)pyrocatechol

4-(2-aminoethyl)-pyrocatechol

4-(2-Aminoethyl)pyrocatechol

4-(2-Aminoethyl)-pyrocatechol

4-(2-Aminoethyl)pyrocatechol hydrochloride

50444-17-2

51-61-6

62-31-7 (HYDROCHLORIDE)

a-(3,4-Dihydroxyphenyl)-b-aminoethane

AC1L19S5

AC1Q54AX

AC1Q54AY

AKOS003790978

alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane

ASL 279

BIDD:ER0506

Biomol-NT_000001

BPBio1_001123

BSPBio_001932

C03758

CHEBI:18243

CHEMBL59

CID681

cMAP_000036

cMAP_000065

D07870

DB00988

Deoxyepinephrine

DivK1c_000780

Dopamin

Dopamina

Dopamina [INN-Spanish]

dopamine

Dopamine

Dopamine (INN)

Dopamine (USAN)(*hydrochloride*)

Dopamine [INN:BAN]

Dopamine hydrochloride

Dopaminum

Dopaminum [INN-Latin]

Dopastat

Dophamine

Dynatra

EINECS 200-110-0

HSDB 3068

Hydrochloride, dopamine

Hydroxytyramin

hydroxytyramine

Hydroxytyramine

IDI1_000780

intropin

Intropin

Intropin [*hydrochloride*]

IP 498

KBio1_000780

KBio2_001492

KBio2_002388

KBio2_002484

KBio2_004060

KBio2_004956

KBio2_005052

KBio2_006628

KBio2_007524

KBio2_007620

KBio3_001152

KBio3_002867

KBio3_002962

KBioGR_001129

KBioGR_002388

KBioGR_002484

KBioSS_001492

KBioSS_002393

KBioSS_002491

KW-3-060

L000232

L-DOPAMINE

LDP

Lopac0_000586

Lopac-H-8502

LS-159

Medopa (TN)

m-Hydroxytyramine hydrochloride

MolPort-001-641-000

NCGC00015519-01

NCGC00015519-08

NCGC00096050-01

NCGC00096050-02

NCGC00096050-03

NCGC00096050-04

NCGC00096050-05

nchembio.105-comp9

nchembio.107-comp4

nchembio.284-comp1

nchembio.78-comp16

nchembio.89-comp3

nchembio705-8

nchembio801-comp8

NINDS_000780

NSC 173182

NSC169105

NSC173182

Oprea1_088821

Oxytyramine

Pyrocatechol, 4-(2-aminoethyl)- (8CI)

Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride

Revimine

Revivan

SPBio_001205

Spectrum_001012

SPECTRUM1505155

Spectrum2_001023

Spectrum3_000406

Spectrum4_000525

Spectrum5_000945

ST048774

STK301601

UNII-VTD58H1Z2X

UPCMLD0ENAT5885989:001

Bromocriptine

Approved, Investigational

Phase 1, Phase 2

25614-03-3

31101

Synonyms:

(5'a)-2-bromo-12'-Hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)-3',6',18-trioxoergotaman

(5'a)-2-bromo-12'-Hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)ergotaman-3',6',18-trione

(5'a)-2-bromo-12'-Hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman

(5'alpha)-2-bromo-12'-hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)-3',6',18-trioxoergotaman

(5'alpha)-2-bromo-12'-Hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)-3',6',18-trioxoergotaman

(5'alpha)-2-bromo-12'-hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)ergotaman-3',6',18-trione

(5'alpha)-2-bromo-12'-Hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)ergotaman-3',6',18-trione

(5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-2'-(propan-2-yl)-3',6',18-trioxoergotaman

(5'alpha)-2-bromo-12'-hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman

(5'alpha)-2-bromo-12'-Hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman

(5'α)-2-bromo-12'-hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)-3',6',18-trioxoergotaman

(5'α)-2-bromo-12'-hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)ergotaman-3',6',18-trione

(5'α)-2-bromo-12'-hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman

(6aR,9R)-5-Bromo-N-((2R,5S,10aS,10bS)-10b-hydroxy-5-isobutyl-2-isopropyl-3,6-dioxooctahydro-2H-oxazolo[3,2-a]pyrrolo[2,1-c]pyrazin-2-yl)-7-methyl-4,6,6a,7,8,9-hexahydroindolo[4,3-fg]quinoline-9-carboxamide

2 bromo alpha Ergocryptine

2 bromo alpha Ergokryptine

2 Bromoergocryptine

2 Bromoergocryptine mesylate

2 Bromoergocryptine methanesulfonate

2 Bromoergokryptine

22260-51-1 (mesylate (salt))

25614-03-3

2-Bromo-12'-hydroxy-2'-(1-methylethyl)-5'-alpha-(2-methylpropyl)ergotamin-3',6',18-trione

2-bromo-a-Ergocryptine

2-bromo-a-Ergokryptin

2-bromo-a-Ergokryptine

2-bromo-alpha-Ergocryptine

2-Bromo-alpha-ergocryptine

2-bromo-alpha-Ergokryptin

2-Bromo-alpha-ergokryptin

2-bromo-alpha-Ergokryptine

2-Bromo-alpha-ergokryptine

2-Bromoergocryptine

2-Bromoergocryptine mesylate

2-Bromoergocryptine methanesulfonate

2-Bromoergocryptine Methanesulfonate

2-Bromoergokryptine

2-bromo-α-ergocryptine

2-bromo-α-ergokryptin

2-bromo-α-ergokryptine

AC-13601

AC1L1KXS

AC1Q2716

Alti-Bromocriptine

Apo-Bromocriptine

Bagren

BIDD:GT0464

Biomol-NT_000005

BPBio1_001131

BRD-K14496212-001-01-1

Bromergocryptine

Bromocriptin

Bromocriptina

Bromocriptina [INN-Spanish]

bromocriptine

Bromocriptine

Bromocriptine (USAN/INN)

Bromocriptine [BAN]

Bromocriptine [USAN:BAN:INN]

Bromocriptine mesylate

Bromocriptine methanesulfonate

Bromocriptinum

Bromocriptinum [INN-Latin]

Bromocryptin

Bromocryptine

Bromoergocriptine

Bromoergocryptine

C06856

C32H40BrN5O5

CB-154

CCRIS 3244

CHEBI:3181

CHEMBL493

CID31101

D03165

DB01200

EINECS 247-128-5

Ergocryptine, 2-bromo- (8CI)

Ergoset

Lopac0_000171

LS-64540

Mesylate, 2-bromoergocryptine

Mesylate, bromocriptine

Methanesulfonate, 2-bromoergocryptine

MolPort-002-512-064

NCGC00024584-04

nchembio873-comp18

NCI60_001365

NSC169774

Parlodel

Parlodel Snaptabs

PDSP2_001500

Prestwick0_000121

Prestwick1_000121

Prestwick2_000121

SPBio_002101

UNII-3A64E3G5ZO

Dopamine agonists

Phase 1, Phase 2

Hormone Antagonists

Phase 1, Phase 2

Hormones

Phase 1, Phase 2

Antiparkinson Agents

Phase 1, Phase 2

Neurotransmitter Agents

Phase 1, Phase 2

Dopamine Agents

Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Double-Blind Comparative Trial and Open-Label Extension Trial to Investigate the Safety and Efficacy of TW-012R in Alzheimer's Disease With Presenilin 1 (PSEN1) Mutations	Recruiting	NCT04413344	Phase 1, Phase 2	Bromocriptine;Placebos

Search NIH Clinical Center for Early-Onset, Autosomal Dominant Alzheimer Disease

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Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:

#	Genetic test	Affiliating Genes
1	Early-Onset Autosomal Dominant Alzheimer Disease ²⁹

Sources

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:

⁴⁰

Brain, Testes, Cortex, Cerebellum, Heart, Skin, Ovary

Sources

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:

(show top 50) (show all 388)

#	Title	Authors	PMID	Year
1	Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. ⁶ ⁶¹	Bruni AC...Puccio G	20164095	2010
2	A novel PSEN2 mutation associated with a peculiar phenotype. ⁶ ⁶¹	Piscopo P...Confaloni A	18427071	2008
3	Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. ⁶ ⁶¹	Tedde A...Sorbi S	14623725	2003
4	A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. ⁶¹ ⁶	Ezquerra M...Oliva R	12925374	2003
5	A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. ⁶¹ ⁶	Bertoli Avella AM...Heutink P	12484344	2002
6	High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. ⁶¹ ⁶	Finckh U...Gal A	10631141	2000
7	Early-Onset Familial Alzheimer Disease – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹ ⁶	Bird TD	20301414	1999
8	The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. ⁶¹ ⁶	Tomita T...Obata K	9050898	1997
9	Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. ⁶	Arboleda-Velasquez JF...Quiroz YT	31686034	2019
10	Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. ⁶	Kosik KS...Lopera F	25471389	2015
11	Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. ⁶	Moore A...Canadian Consensus Conference on the Diagnosis and Treatment of Dementia	24829003	2014
12	Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans. ⁶	Muller U...Graeber MB	21911706	2011
13	EFNS guidelines for the diagnosis and management of Alzheimer's disease. ⁶	Hort J...EFNS Scientist Panel on Dementia	20831773	2010
14	EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ⁶	Burgunder JM...EFNS	20298421	2010
15	The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. ⁶	Yu CE...Bird TD	20457965	2010
16	Preventing Alzheimer's disease and cognitive decline. ⁶	Williams JW...Benjamin S	21500874	2010
17	A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. ⁶	Di Fede G...Tagliavini F	19286555	2009
18	Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. ⁶	Piccini A...Tabaton M	17502474	2007
19	Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. ⁶	Kauwe JS...Goate AM	17366635	2007
20	Mutations of presenilin genes in dilated cardiomyopathy and heart failure. ⁶	Li D...Hershberger RE	17186461	2006
21	The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. ⁶	Murrell J...Ringman JM	16897084	2006
22	Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. ⁶	Yescas P...Alonso ME	16628450	2006
23	Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. ⁶	Snider BJ...Morris JC	16344340	2005
24	Pick bodies in a family with presenilin-1 Alzheimer's disease. ⁶	Halliday GM...Kril JJ	15622541	2005
25	APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. ⁶	Wijsman EM...Schellenberg GD	15389756	2005
26	APOE genotype and cognitive decline in a middle-aged cohort. ⁶	Blair CK...Atherosclerosis Risk in Communities (ARIC) Study Investigators	15668424	2005
27	Impact of APOE in mild cognitive impairment. ⁶	Farlow MR...Charles HC	15557508	2004
28	A presenilin 1 R278I mutation presenting with language impairment. ⁶	Godbolt AK...Rossor MN	15534260	2004
29	APOE-epsilon4 predicts dementia but not other psychiatric disorders after traumatic brain injury. ⁶	Koponen S...Tenovuo O	15326261	2004
30	Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. ⁶	Caselli RJ...Alexander GG	15184602	2004
31	Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. ⁶	Beck JA...Tabrizi SJ	15115757	2004
32	Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4. ⁶	Enzinger C...Fazekas F	15048896	2004
33	ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. ⁶	DeMattos RB...Holtzman DM	14741101	2004
34	Atypical dementia associated with a novel presenilin-2 mutation. ⁶	Binetti G...Rossini PM	14681895	2003
35	PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. ⁶	Rogaeva E...St George-Hyslop PH	14557582	2003
36	Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. ⁶	Pastor P...Goate AM	12891668	2003
37	Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. ⁶	Rippon GA...Lynch T	12810495	2003
38	The role of presenilin cofactors in the gamma-secretase complex. ⁶	Takasugi N...Iwatsubo T	12660785	2003
39	Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. ⁶	O'Riordan S...Hutchinson M	12370477	2002
40	Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. ⁶	Moehlmann T...Steiner H	12048239	2002
41	Apolipoprotein E epsilon 4 and short-term recovery from predominantly mild brain injury. ⁶	Liberman JN...Troncoso J	11940689	2002
42	APOE genotype influences acquisition and recall following traumatic brain injury. ⁶	Crawford FC...Mullan MJ	11940706	2002
43	Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. ⁶	Mori E...Matsui M	11835377	2002
44	Current concepts in mild cognitive impairment. ⁶	Petersen RC...Winblad B	11735772	2001
45	A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. ⁶	Lleo A...Oliva R	11723295	2001
46	A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. ⁶	Athan ES...Mayeux R	11710891	2001
47	Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. ⁶	Rogaeva EA...St George-Hyslop P	11524469	2001
48	Presenilin-1-associated abnormalities in regional cerebral perfusion. ⁶	Johnson KA...Rios A	11402113	2001
49	The presenilin 1 C92S mutation increases abeta 42 production. ⁶	Lewis PA...Hardy J	11027672	2000
50	Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. ⁶	Devi G...Mayeux R	11030797	2000

Sources

Genes for Early-Onset, Autosomal Dominant Alzheimer Disease

Genes related to Early-Onset, Autosomal Dominant Alzheimer Disease (7 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PSEN1	Presenilin 1	Protein Coding	367.93	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications Variants (show sections)
2	APP	Amyloid Beta Precursor Protein	Protein Coding	367.72	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications Variants (show sections)
3	PSEN2	Presenilin 2	Protein Coding	366.83	Causative germline mutation ⁵⁸ GeneCards inferred via : Publications Variants (show sections)
4	SORL1	Sortilin Related Receptor 1	Protein Coding	350	Causative germline mutation ⁵⁸
5	ABCA7	ATP Binding Cassette Subfamily A Member 7	Protein Coding	25	Candidate gene tested ⁵⁸
6	TOMM40	Translocase Of Outer Mitochondrial Membrane 40	Protein Coding	25	Orphanet ⁵⁸
7	TREM2	Triggering Receptor Expressed On Myeloid Cells 2	Protein Coding	25	Candidate gene tested ⁵⁸

Sources

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

ClinVar genetic disease variations for Early-Onset, Autosomal Dominant Alzheimer Disease:

⁶ (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PSEN1	NM_000021.4(PSEN1):c.1716_1720TATGA[4]	short repeat	Uncertain significance	313971	rs886050670	14:73687712-73687713	14:73221004-73221005
2	PSEN1	NM_000021.4(PSEN1):c.1867_1870ACAG[1]	short repeat	Uncertain significance	313975	rs563773430	14:73687864-73687867	14:73221156-73221159
3	PSEN1	NM_000021.3(PSEN1):c.-241G>T	SNV	Uncertain significance	313939	rs886050661	14:73603186-73603186	14:73136478-73136478
4	PSEN1	NM_000021.3(PSEN1):c.-226C>A	SNV	Uncertain significance	313940	rs200531676	14:73603201-73603201	14:73136493-73136493
5	PSEN1	NM_000021.4(PSEN1):c.*1415C>A	SNV	Uncertain significance	313966	rs574671310	14:73687412-73687412	14:73220704-73220704
6	PSEN1	NM_000021.4(PSEN1):c.3033_3034CT[2]	short repeat	Uncertain significance	313992	rs886050680	14:73689029-73689030	14:73222321-73222322
7	PSEN1	NM_000021.3(PSEN1):c.-214T>G	SNV	Uncertain significance	313941	rs886050662	14:73603213-73603213	14:73136505-73136505
8	APP	NM_001136131.2(APP):c.-49+166G>A	SNV	Uncertain significance	339658	rs761755102	21:27543137-27543137	21:26170819-26170819
9	APP	NM_001136131.2(APP):c.-49+165G>A	SNV	Uncertain significance	339659	rs200621906	21:27543138-27543138	21:26170820-26170820
10	APP	NM_001136131.2(APP):c.-49+195C>A	SNV	Uncertain significance	339656	rs538664273	21:27543108-27543108	21:26170790-26170790
11	APP	NM_000484.4(APP):c.819_821CAC[8] (p.Thr280dup)	short repeat	Uncertain significance	339641	rs527890624	21:27394181-27394182	21:26021865-26021866
12	APP	NM_001136131.2(APP):c.-49+179G>T	SNV	Uncertain significance	339657	rs886056999	21:27543124-27543124	21:26170806-26170806
13	PSEN2	NM_000447.2(PSEN2):c.*536G>A	SNV	Likely benign	368866	rs16846619	1:227083816-227083816	1:226896115-226896115
14	PSEN2	NM_012486.2(PSEN2):c.-400C>T	SNV	Likely benign	295979	rs186308126	1:227058300-227058300	1:226870599-226870599
15	APP	NM_000484.3(APP):c.*1125T>G	SNV	Likely benign	369359	rs45599935	21:27252856-27252856	21:25880545-25880545
16	APP	NM_001136131.2(APP):c.-49+209G>C	SNV	Likely benign	339655	rs45476095	21:27543094-27543094	21:26170776-26170776
17	PSEN1	NM_000021.3(PSEN1):c.-296C>T	SNV	Benign/Likely benign	369076	rs1800839	14:73603131-73603131	14:73136423-73136423

Sources

Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

Search GEO for disease gene expression data for Early-Onset, Autosomal Dominant Alzheimer Disease.

Sources

Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Alzheimers Disease ¹	11.72	PSEN2 PSEN1 APP
2	Presenilin-Mediated Signaling ⁶³	11.65	PSEN2 PSEN1 APP
3	Neuroscience ⁴	11.56	TREM2 SORL1 PSEN2 PSEN1 APP
4	p75(NTR)-mediated signaling ¹ Show member pathways Ceramide signalling ⁶⁵ NFG and proNGF binds to p75NTR ⁶⁵	11.28	PSEN1 APP
5	Alzheimers Disease Pathway ⁶³	10.99	PSEN2 PSEN1 APP
6	Notch Signaling ⁶³	10.91	PSEN2 PSEN1
7	Canonical and Non-canonical Notch signaling ¹	10.84	PSEN2 PSEN1
8	A-beta Plaque Formation and APP Metabolism ⁶⁴	10.49	PSEN2 PSEN1 APP
9	Notch Pathway ⁷⁰	9.96	PSEN2 PSEN1

Sources

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	10.08	TREM2 TOMM40 SORL1 PSEN2 PSEN1 APP
2	integral component of plasma membrane	GO:0005887	9.89	TREM2 SORL1 PSEN2 PSEN1 APP
3	Golgi apparatus	GO:0005794	9.85	SORL1 PSEN2 PSEN1 APP ABCA7
4	endosome	GO:0005768	9.83	SORL1 PSEN1 APP ABCA7
5	Golgi membrane	GO:0000139	9.81	SORL1 PSEN2 PSEN1 ABCA7
6	mitochondrial inner membrane	GO:0005743	9.77	TOMM40 PSEN2 PSEN1
7	axon	GO:0030424	9.76	PSEN2 PSEN1 APP
8	membrane raft	GO:0045121	9.73	PSEN2 PSEN1 APP
9	early endosome membrane	GO:0031901	9.65	SORL1 PSEN1 ABCA7
10	growth cone	GO:0030426	9.61	PSEN2 PSEN1 APP
11	rough endoplasmic reticulum	GO:0005791	9.59	PSEN1 APP
12	integral component of presynaptic membrane	GO:0099056	9.58	PSEN2 PSEN1
13	synaptic vesicle	GO:0008021	9.58	PSEN2 PSEN1 APP
14	synaptic membrane	GO:0097060	9.57	PSEN2 PSEN1
15	early endosome	GO:0005769	9.56	SORL1 PSEN2 PSEN1 APP
16	smooth endoplasmic reticulum	GO:0005790	9.55	PSEN1 APP
17	cell surface	GO:0009986	9.55	SORL1 PSEN2 PSEN1 APP ABCA7
18	neuromuscular junction	GO:0031594	9.5	PSEN2 PSEN1 APP
19	nuclear envelope lumen	GO:0005641	9.37	SORL1 APP
20	dendritic shaft	GO:0043198	9.13	PSEN2 PSEN1 APP
21	ciliary rootlet	GO:0035253	8.8	PSEN2 PSEN1 APP

Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	9.86	TREM2 PSEN1 APP
2	regulation of gene expression	GO:0010468	9.83	TREM2 PSEN1 APP
3	cellular protein metabolic process	GO:0044267	9.82	SORL1 PSEN1 APP
4	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.81	TREM2 APP ABCA7
5	positive regulation of protein phosphorylation	GO:0001934	9.78	TREM2 PSEN1 APP
6	Notch signaling pathway	GO:0007219	9.74	PSEN2 PSEN1 APP
7	positive regulation of protein binding	GO:0032092	9.68	PSEN1 APP
8	forebrain development	GO:0030900	9.68	PSEN1 APP
9	learning or memory	GO:0007611	9.67	PSEN1 APP
10	positive regulation of NIK/NF-kappaB signaling	GO:1901224	9.67	TREM2 APP
11	synapse organization	GO:0050808	9.67	PSEN1 APP
12	protein processing	GO:0016485	9.66	PSEN2 PSEN1
13	neuron apoptotic process	GO:0051402	9.65	PSEN1 APP
14	positive regulation of phosphorylation	GO:0042327	9.65	PSEN1 APP
15	microglial cell activation	GO:0001774	9.65	TREM2 APP
16	positive regulation of glycolytic process	GO:0045821	9.63	PSEN1 APP
17	regulation of protein binding	GO:0043393	9.63	PSEN1 APP
18	membrane protein ectodomain proteolysis	GO:0006509	9.62	PSEN2 PSEN1
19	positive regulation of tumor necrosis factor biosynthetic process	GO:0042535	9.62	PSEN1 APP
20	regulation of peptidyl-tyrosine phosphorylation	GO:0050730	9.61	TREM2 APP
21	protein maturation	GO:0051604	9.6	SORL1 PSEN1
22	membrane protein intracellular domain proteolysis	GO:0031293	9.59	PSEN2 PSEN1
23	negative regulation of amyloid-beta formation	GO:1902430	9.58	SORL1 ABCA7
24	amyloid-beta metabolic process	GO:0050435	9.58	PSEN2 PSEN1
25	neuron projection maintenance	GO:1990535	9.56	PSEN1 APP
26	amyloid precursor protein catabolic process	GO:0042987	9.55	PSEN2 PSEN1
27	Notch receptor processing	GO:0007220	9.54	PSEN2 PSEN1
28	modulation of age-related behavioral decline	GO:0090647	9.52	PSEN1 APP
29	regulation of resting membrane potential	GO:0060075	9.51	TREM2 PSEN1
30	positive regulation of amyloid-beta clearance	GO:1900223	9.49	TREM2 ABCA7
31	Notch receptor processing, ligand-dependent	GO:0035333	9.48	PSEN2 PSEN1
32	amyloid-beta formation	GO:0034205	9.46	PSEN1 ABCA7
33	negative regulation of low-density lipoprotein receptor activity	GO:1905598	9.43	PSEN1 APP
34	cellular response to amyloid-beta	GO:1904646	9.43	TREM2 PSEN1 APP
35	positive regulation of amyloid fibril formation	GO:1905908	9.4	PSEN1 APP
36	regulation of epidermal growth factor-activated receptor activity	GO:0007176	9.37	PSEN1 APP
37	astrocyte activation involved in immune response	GO:0002265	9.32	PSEN1 APP
38	positive regulation of engulfment of apoptotic cell	GO:1901076	9.16	TREM2 ABCA7
39	smooth endoplasmic reticulum calcium ion homeostasis	GO:0051563	8.96	PSEN1 APP
40	astrocyte activation	GO:0048143	8.8	TREM2 PSEN1 APP

Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	amyloid-beta binding	GO:0001540	9.32	TREM2 SORL1
2	aspartic-type endopeptidase activity	GO:0004190	9.26	PSEN2 PSEN1
3	low-density lipoprotein particle binding	GO:0030169	9.16	TREM2 SORL1
4	growth factor receptor binding	GO:0070851	8.96	PSEN1 APP
5	aspartic endopeptidase activity, intramembrane cleaving	GO:0042500	8.62	PSEN2 PSEN1

Sources

Sources for Early-Onset, Autosomal Dominant Alzheimer Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Early-Onset, Autosomal Dominant Alzheimer Disease (FAD)

Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

Related Diseases for Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases in the Alzheimer Disease family:

Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease:

Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

MGI Mouse Phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

Drugs & Therapeutics for Early-Onset, Autosomal Dominant Alzheimer Disease

Drugs for Early-Onset, Autosomal Dominant Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:

Genes for Early-Onset, Autosomal Dominant Alzheimer Disease

Genes related to Early-Onset, Autosomal Dominant Alzheimer Disease (7 elite genes):

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

ClinVar genetic disease variations for Early-Onset, Autosomal Dominant Alzheimer Disease:

Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

Sources for Early-Onset, Autosomal Dominant Alzheimer Disease