AD
MCID: ALZ034
MIFTS: 90

Alzheimer Disease (AD)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alzheimer Disease

MalaCards integrated aliases for Alzheimer Disease:

Name: Alzheimer Disease 57 12 24 53 25 74 37 29 44 38 40 33
Alzheimer's Disease 12 75 25 54 29 6 43 3 15 63 17 72
Presenile and Senile Dementia 57 25 74
Ad 57 25 74
Alzheimer Disease, Late-Onset, Susceptibility to 57 6
Alzheimer Disease, Susceptibility to 57 6
Alzheimer Disease 1, Familial 57 13
Familial Alzheimer Disease 25 72
Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy 6
Early-Onset Alzheimer Disease with Cerebral Amyloid Angiopathy 74
Primary Senile Degenerative Dementia 25
Autosomal Dominant Alzheimer Disease 74
Dementia Due to Alzheimer's Disease 72
Alzheimer's Disease Pathway Kegg 72
Alzheimer Disease, Late-Onset 57
Late-Onset Alzheimers Disease 17
Alzheimer Disease Familial 29
Alzheimer Disease Type 1 72
Alzheimer-Type Dementia 25
Alzheimers Dementia 12
Alzheimer Disease 1 74
Alzheimer Sclerosis 25
Alzheimer Dementia 25
Alzheimer Syndrome 25
Alzheimers Disease 55
Sdat 25
Ad1 74
Dat 25

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
alzheimer disease:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:10652
OMIM 57 104300
KEGG 37 H00056
ICD9CM 35 331.0
MeSH 44 D000544
NCIt 50 C2866
SNOMED-CT 68 26929004 73768007
UMLS 72 C0002395 C0276496 C1521724 more

Summaries for Alzheimer Disease

Genetics Home Reference : 25 Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood. Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care. As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. Death usually results from pneumonia, malnutrition, or general body wasting (inanition). Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer disease.

MalaCards based summary : Alzheimer Disease, also known as alzheimer's disease, is related to alzheimer disease 2 and early-onset, autosomal dominant alzheimer disease, and has symptoms including seizures, tremor and angina pectoris. An important gene associated with Alzheimer Disease is APP (Amyloid Beta Precursor Protein), and among its related pathways/superpathways are Alzheimer disease and MicroRNAs in cancer. The drugs Dinoprostone and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include Brain and Brain, and related phenotypes are dementia and parkinsonism

Disease Ontology : 12 A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.

NIH Rare Diseases : 53 Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the 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 cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page.

OMIM : 57 Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. (104300)

MedlinePlus : 43 Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly. It first involves the parts of the brain that control thought, memory and language. People with AD may have trouble remembering things that happened recently or names of people they know. A related problem, mild cognitive impairment (MCI), causes more memory problems than normal for people of the same age. Many, but not all, people with MCI will develop AD. In AD, over time, symptoms get worse. People may not recognize family members. They may have trouble speaking, reading or writing. They may forget how to brush their teeth or comb their hair. Later on, they may become anxious or aggressive, or wander away from home. Eventually, they need total care. This can cause great stress for family members who must care for them. AD usually begins after age 60. The risk goes up as you get older. Your risk is also higher if a family member has had the disease. No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time. NIH: National Institute on Aging

CDC : 3 The most common type of dementia. A progressive disease beginning with mild memory loss possibly leading to loss of the ability to carry on a conversation and respond to the environment. Involves parts of the brain that control thought, memory, and language. Can seriously affect a person's ability to carry out daily activities. Although scientists are learning more every day, right now, they still do not know what causes Alzheimer's disease.

NINDS : 54 Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older. There are three major hallmarks in the brain that are associated with the disease processes of AD. Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.

KEGG : 37
Alzheimer disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress.

UniProtKB/Swiss-Prot : 74 Alzheimer disease: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. Alzheimer disease 1: A familial early-onset form of Alzheimer disease. It can be associated with cerebral amyloid angiopathy. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

PubMed Health : 63 About alzheimer's disease: Alzheimer's disease is the most common cause of dementia. It takes its name from the psychiatrist Alois Alzheimer, who in the early twentieth century was the first person to describe the disease. Over time, people who have Alzheimer’s lose their memory and ability to concentrate. Orientation in space and time become increasingly difficult, and it is also harder for them to manage on their own in everyday life. Those affected need more support as the disease progresses. The course of Alzheimer’s can be positively influenced by a number of different medications and non-drug treatments – but it is not possible to cure the disease or to keep it from progressing. This makes it even more critical for people with Alzheimer’s to receive good care and support: They need loving and stable relationships and a tolerant environment. Many family members need help and assistance too. There are other possible causes of dementia besides Alzheimer’s disease. These include problems with the flow of blood in the brain (vascular dementia). Some people – particularly older people – have both Alzheimer’s and vascular dementia. Medical conditions such as Parkinson’s disease, brain injuries or tumors can also cause dementia. Long-term heavy alcohol consumption may lead to dementia too. There are similarities, but also differences, between the different forms of dementia: The symptoms, the course the disease takes, and the treatment options can all vary. This overview is only about Alzheimer’s.

Wikipedia : 75 Alzheimer's disease (AD), also referred to simply as Alzheimer's, is a chronic neurodegenerative disease... more...

GeneReviews: NBK1161

Related Diseases for 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 Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1955)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 2 36.4 PSEN1 PLAU NOS3 APP
2 early-onset, autosomal dominant alzheimer disease 36.0 PSEN1 APP
3 alzheimer disease mitochondrial 35.2 MT-ND1 APP
4 amyloidosis 32.7 PSEN1 BACE1 APP
5 disease of mental health 31.8 PSEN1 BACE1 APP
6 diabetes mellitus 31.6 NOS3 MT-ND1 MIR34A HFE CDKN2B-AS1
7 inclusion body myositis 31.6 MIR34A BACE1-AS BACE1 APP
8 kohlschutter-tonz syndrome 31.5 PSEN1 APP
9 gait apraxia 31.3 PSEN1 APP
10 ovarian cancer 31.3 PLAU MIR29A MIR146A MIR106B CDKN2B-AS1 BACE1-AS
11 kluver-bucy syndrome 31.0 PSEN1 APP
12 leukemia, acute myeloid 30.9 MPO MIR328 MIR146A CDKN2B-AS1
13 hepatocellular carcinoma 30.9 MIR34A MIR29A MIR146A MIR107 MIR106B HFE
14 nervous system disease 30.9 PSEN1 BACE1 APP
15 central nervous system disease 30.4 PSEN1 BACE1 APP
16 thyroid cancer, nonmedullary, 1 30.4 MIR34A MIR29A MIR146A
17 oral squamous cell carcinoma 30.4 MIR34A MIR29A MIR146A MIR107
18 colorectal cancer 29.6 PLAU MIR34A MIR328 MIR29A MIR107 MIR106B
19 alzheimer disease 3 12.8
20 alzheimer disease 6 12.8
21 alzheimer disease 4 12.7
22 alzheimer disease 18 12.7
23 alzheimer disease 19 12.7
24 alzheimer disease 9 12.7
25 alzheimer disease 5 12.6
26 alzheimer disease 8 12.6
27 alzheimer disease 10 12.5
28 alzheimer disease 7 12.5
29 alzheimer disease 14 12.5
30 alzheimer disease 11 12.5
31 alzheimer disease 13 12.5
32 alzheimer disease 15 12.5
33 alzheimer disease 12 12.5
34 alzheimer disease 17 12.3
35 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 12.3
36 alzheimer disease 16 12.3
37 alzheimer disease without neurofibrillary tangles 12.2
38 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.1
39 dementia, lewy body 12.0
40 immunodeficiency 27b 11.9
41 myopathy, centronuclear, 1 11.9
42 alzheimer's disease 1 11.9
43 down syndrome 11.8
44 hypocalcemia, autosomal dominant 1 11.7
45 anauxetic dysplasia 1 11.7
46 anemia, autoimmune hemolytic 11.6
47 supranuclear palsy, progressive, 1 11.6
48 schizophrenia 11.6
49 dermatitis, atopic 11.6
50 parkinson disease, late-onset 11.6

Comorbidity relations with Alzheimer Disease via Phenotypic Disease Network (PDN): (show top 50) (show all 54)


Active Peptic Ulcer Disease Acute Conjunctivitis
Acute Cystitis Acute Kidney Failure
Amnestic Disorder Bronchitis
Bronchopneumonia Cerebral Atherosclerosis
Cerebral Degeneration Cerebrovascular Disease
Communicating Hydrocephalus Conduct Disorder
Conjunctivitis Cystitis
Decubitus Ulcer Deficiency Anemia
Delusional Disorder Dental Caries
Dermatomycosis Encephalopathy
Folic Acid Deficiency Anemia Generalized Atherosclerosis
Grn-Related Frontotemporal Dementia Heart Disease
Hypoglycemia Hypothyroidism
Intermittent Explosive Disorder Intestinal Volvulus
Iron Deficiency Anemia Kidney Disease
Kohlschutter-Tonz Syndrome Latent Syphilis
Major Depressive Disorder Marasmus
Neurogenic Bladder Nutritional Deficiency Disease
Obstructive Hydrocephalus Ocular Motor Apraxia
Oral Candidiasis Osteoporosis
Paralytic Ileus Paranoid Schizophrenia
Parkinson Disease, Late-Onset Pernicious Anemia
Personality Disorder Protein-Energy Malnutrition
Pyelonephritis Scabies
Schizophrenia Schizophreniform Disorder

Graphical network of the top 20 diseases related to Alzheimer Disease:



Diseases related to Alzheimer Disease

Symptoms & Phenotypes for Alzheimer Disease

Human phenotypes related to Alzheimer Disease:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 parkinsonism 32 HP:0001300
3 neurofibrillary tangles 32 HP:0002185
4 senile plaques 32 HP:0100256
5 alzheimer disease 32 HP:0002511
6 long-tract signs 32 HP:0002423
7 decreased level of gaba in serum 32 HP:0410054

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
parkinsonism
presenile and senile dementia
long tract signs
neurofibrillary tangles composed of disordered microtubules

Clinical features from OMIM:

104300

UMLS symptoms related to Alzheimer Disease:


seizures, tremor, angina pectoris, myoclonus, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, equilibration disorder, sleeplessness

Drugs & Therapeutics for Alzheimer Disease

PubMed Health treatment related to Alzheimer Disease: 63

People who have Alzheimer’s need long-term help and treatment. Depending on their needs, their life situation and the stage of disease, a whole team of people may be involved in providing care. These could include trained doctors, psychologists, nurses and social workers, as well as volunteers. Both treatment with medications and non-drug interventions aim to increase quality of life,keep the ability to do everyday tasks and stay independent for as long as possible,reduce mental health problems, andhelp family members to cope better. The most common medications used to treat Alzheimer’s disease include cholinesterase inhibitors, memantine and extracts from the leaves of the Ginkgo biloba tree. Examples of non-drug treatments include memory and orientation training, doing everyday activities as a group, or art therapy, aromatherapy, and animal-assisted or music therapy. Physical activities and massages can help too. Caregiver training for family members is important too.

Drugs for Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 668)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dinoprostone Approved Phase 4 363-24-6 5280360
2
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
3
Sertraline Approved Phase 4 79617-96-2 68617
4
Haloperidol Approved Phase 4 52-86-8 3559
5
Norepinephrine Approved Phase 4 51-41-2 439260
6
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Simvastatin Approved Phase 4 79902-63-9 54454
9
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
10
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
11
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
12
Acetaminophen Approved Phase 4 103-90-2 1983
13
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
14
Ramipril Approved Phase 4 87333-19-5 5362129
15
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
16
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
17
Metformin Approved Phase 4 657-24-9 4091 14219
18
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
19
Atorvastatin Approved Phase 4 134523-00-5 60823
20
Pravastatin Approved Phase 4 81093-37-0 54687
21
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
22
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
23
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
24
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
25
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
26
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
27
Racepinephrine Approved Phase 4 329-65-7 838
28
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
29
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
30
Citalopram Approved Phase 4 59729-33-8 2771
31
Iodine Approved, Investigational Phase 4 7553-56-2 807
32
Huperzine A Approved, Experimental Phase 4 102518-79-6
33
Memantine Approved, Investigational Phase 4 19982-08-2 4054
34
Galantamine Approved Phase 4 357-70-0 9651
35
tannic acid Approved Phase 4 1401-55-4
36
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
37
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
38
Amisulpride Approved, Investigational Phase 4 53583-79-2, 71675-85-9 2159
39
Sodium oxybate Approved Phase 4 502-85-2 5360545
40
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
41
Choline Approved, Nutraceutical Phase 4 62-49-7 305
42 Tandospirone Investigational Phase 4 87760-53-0
43
Corticosterone Experimental Phase 4 50-22-6 5753
44 Fallypride Investigational Phase 4 166173-78-0
45 Gastrodia Phase 4
46 Gastrointestinal Agents Phase 4
47 Peripheral Nervous System Agents Phase 4
48 Autonomic Agents Phase 4
49 Serotonin 5-HT2 Receptor Antagonists Phase 4
50 Serotonin Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 2802)
# Name Status NCT ID Phase Drugs
1 Effect of the Stage Specific Cognitive Intervention Program on Functional Cortical Activation in Alzheimer's Disease Unknown status NCT01329601 Phase 4
2 A Multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Assess the Efficacy of Acetyl-L-carnitine in Patient With Alzheimer's Disease Unknown status NCT02955706 Phase 4 Acetyl-L-Carnitine;Placebo of Acetyl-L-Carnitine
3 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage Alzheimer's Disease Having Coexisting Small Vessel Cerebrovascular Disease Unknown status NCT02444637 Phase 4 Rivastigmine
4 Memantine Treatment in Alzheimer's Disease Patients Stratified With Behavioral and Psychological Symptoms of Dementia (BPSD) Symptoms and Cognitive Severity: A Multi-center, Open-label, Parallel-group and Prospective Clinical Study Unknown status NCT03168997 Phase 4 Memantine Hydrochloride
5 A Multicenter, Randomized, Open-label, Prospective Study to Estimate the add-on Effects of Memantine as Ebixa Oral Pump on Language in Moderate to Severe Alzheimer's Disease Patients Already Receiving Donepezil. Unknown status NCT01849042 Phase 4 Ebixa;donepezil
6 A Randomised Placebo Controlled Trial of a Cholinesterase Inhibitor in the Management of Agitation in Dementia That is Unresponsive to a Psychological Intervention Unknown status NCT00142324 Phase 4 Donepezil
7 Clinical Protocol of a Prospective, Open-label Study to Assess the Safety and Efficacy of Nuedexta (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect (PBA) in Patients With Alzheimer's Disease Unknown status NCT01832350 Phase 4 Nuedexta (20/10)
8 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
9 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Dementia/MCI) Unknown status NCT00306124 Phase 4 Levodopa
10 Phase IV Study of General Clinical Research Center Of the Jinan Mental Hospital(TAIWAN) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
11 Diffusion Tensor Weighted MRI in Alzheimer's Disease: Prediction and Mapping of Symptomatic and Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4 Galantamine (Reminyl®);Placebo/Galantamine (Reminyl®)
12 A Clinical Trial for an Evaluation of Choline Alfoscerate and Donepezil for Cognitive Improvements of Patients With Cerebrovascular Injury in Alzheimer Patients Unknown status NCT02648906 Phase 4 Choline alfoscerate;Placebo
13 A Based on PEEG and PET Study of Anxiolytic Treatment to Improve Cognitive Function in Patients With Alzheimer Disease Unknown status NCT03151382 Phase 4 Tandospirone Citrate;Donepezil Hydrochloride
14 Insulin Resistance and Mild Cognitive Impairment (MCI) in Older Chinese Adults With Pre-Diabetes and Diabetes: Cognitive Effects of Lifestyle Intervention and Metformin Treatment in a Randomized Controlled Trial Unknown status NCT02409238 Phase 4 Metformin
15 Exploratory Study to Assess the Efficacy of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
16 A Pilot Study of Memantine for Cognitive and Behavioral Dysfunction in Huntington's Disease" Unknown status NCT00652457 Phase 4 Memantine
17 Pragmatic Randomized Control Trial of Memantine For Agitation In Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
18 Gastrodin Prevents Cognitive Decline Related to Cardiopulmonary Bypass Unknown status NCT00297245 Phase 4 cognitive function
19 Huperzine-A for Cognitive Dysfunction and Functional Status in Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
20 Donepezil Treatment for Sleep Apnea Patients: A Double Blind Placebo-Controlled Study Unknown status NCT00912457 Phase 4 donepezil;placebo
21 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
22 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Unknown status NCT00196703 Phase 4 memantine
23 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
24 Markers of Alzheimers Disease and Cognitive Outcomes After Perioperative Care Completed NCT01993836 Phase 4 Total intravenous anesthesia with propofol;General anesthesia with isoflurane
25 Alzheimer's Disease Long-term Follow-up Study (ALF Study) Completed NCT00165724 Phase 4 Donepezil Hydrochloride
26 Interventional, Randomised, Double-blind, Study to Evaluate the Safety and Tolerability of Once Daily Versus Twice Daily Memantine Treatment in Patients With Dementia of Alzheimer's Type and MMSE Range 5 - 18 Completed NCT02553928 Phase 4 Memantine (once daily);Memantine (twice daily)
27 A Randomized, Double-Blind, Placebo-Controlled Evaluation of the Efficacy of Memantine on Functional Communication in Patients With Alzheimer's Disease (AD) Completed NCT00469456 Phase 4 Memantine;placebo
28 A 24-week, Open-label, Multicenter Study to Evaluate the Efficacy, Safety and Tolerability of Rivastigmine Patch in Patients With Mild to Moderate Alzheimer's Disease (MMSE 10-23) Switched From Cholinesterase Inhibitors (Donepezil, Galantamine) Completed NCT01529619 Phase 4 Rivastigmine transdermal patch
29 A 12-Week, Multicenter, Open-Label Study to Evaluate the Effectiveness and Safety of Donepezil Hydrochloride (Aricept) in Hispanic Patients With Mild to Moderate Alzheimer's Disease Completed NCT00230568 Phase 4 Aricept
30 A 12 Week, Multicenter, Open Label Evaluation of Caregiver Preference, Safety and Tolerability of Exelon® Patch (Rivastigmine Transdermal) in Patients With Alzheimer's Disease Completed NCT01047579 Phase 4 Rivastigmine transdermal
31 An Open-Label Exploratory Study With Memantine: Assessment of Selected Measures of Volumetric MRI and Cognition in Patients With Moderate Dementia of the Alzheimer's Type Completed NCT00334906 Phase 4 memantine HCl
32 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4 Rivastigmine
33 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4 Donepezil HCL
34 A 24-week, Multi-center, Open-label Evaluation of Compliance and Tolerability of the Once-daily 10 cm² Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4 Rivastigmine transdermal patch
35 A Multi-center Study for the Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer's Disease Completed NCT00381381 Phase 4 Donepezil
36 The Feasibility and Reliability of Utilizing Commercially Available Quantitative Analysis Software as an Adjunct to the Clinical Qualitative Interpretation of Amyvid Brain Scans Completed NCT01946243 Phase 4 Florbetapir F18
37 A Single-site Positron Emission Tomography (PET) Study of the Cerebral Metabolic Effects of AC-1202 (Axona®) Treatment in Mild-to-Moderate Alzheimer's Disease (AD) Completed NCT01122329 Phase 4
38 A 12-Week, Multicenter, Open Label Study To Evaluate The Effectiveness And Safety Of Donepezil Hydrochloride (E2020) In Subjects With Mild To Severe Alzheimer's Disease Residing In An Assisted Living Facility Completed NCT00571064 Phase 4 Donepezil HCl
39 A 24-week, Open-label, Multicenter Study to Evaluate the Efficacy, Safety and Tolerability of Rivastigmine Patchwith 1-step Titration in Patients With Mild to Moderate Alzheimer's Disease (MMSE 10 - 23) Switched Directly From Holinesterase Inhibitors (Donepezil, Galantamine) Completed NCT02703636 Phase 4 Rivastigmine Patch
40 A 24-week, Multi-center, Open, Evaluation of the Clinical Effectiveness of the Once-daily 10 cm^2 Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease (MMSE10-26) Completed NCT00561392 Phase 4 Rivastigmine 5 and 10 cm^2 patch
41 A Prospective, Open-labeled, Multicenter Study of Galantamine on the Attention and Frontal Function of the Patients With Dementia of Alzheimer Type Completed NCT00216515 Phase 4 galantamine hydrobromide
42 Escitalopram in the Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4 Escitalopram (Lexapro)
43 A Prospective, 26-Week, Open-Label, Multi-Center, Single-Arm Pilot Study to Evaluate the Safety and Tolerability of Rivastigmine Capsule With Add on Memantine HCl in Patients With Probable Alzheimer's Disease (MMSE 10-20) Completed NCT00305903 Phase 4 Rivastigmine, memantine
44 A Study to Evaluate the Improvement in Reader Accuracy When Using a Read Method That Incorporates Commercially Available Quantitative Analysis Software as an Adjunct to the Clinical Visual Interpretation of Amyvid Brain Scans Completed NCT02107599 Phase 4 Florbetapir (18F)
45 Evaluation of Reader Training Processes by Comparing Clinical Interpretations to Centralized Expert Reads Completed NCT02051790 Phase 4 florbetapir F 18
46 Assessment of the Comparative Effect of Donepezil 10mg/d and Placebo on Clinical and Radiological Markers in Patients With Mild Cognitive Disorders Completed NCT00403520 Phase 4 Experimental 1;Placebo Comparator
47 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
48 16 Weeks Interventional Study on Titration and Dose/Efficacy Assessment of Exelon (Rivastigmine) in Chinese Alzheimer's Disease Patients (INSTINCT) Completed NCT01948791 Phase 4 ENA713
49 A Single Center Study To Examine Neural Correlates Of Cognition In Subjects With Mild Alzheimer's Disease After Three Months Of Open Label Donepezil HCl (Aricept® ) Treatment Completed NCT00477659 Phase 4 donepezil HCl (Aricept)
50 An Open-label Study to Evaluate the Efficacy and Safety of add-on Memantine [5-10 mg b.i.d (10-20 mg/Day)] to Rivastigmine [1.5-6 mg b.i.d. (3-12 mg/Day)] Treatment in Patients With Alzheimer's Disease Who Continued With Rivastigmine Treatment After a Previous Decline While on Donepezil or Galantamine Treatment Completed NCT00234637 Phase 4 Rivastigmine, memantine

Search NIH Clinical Center for Alzheimer Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


alpha-Tocopherol Acetate
d-alpha-Tocopheryl Acetate
Divalproex Sodium
dl-alpha tocopheryl acetate
donepezil
Donepezil hydrochloride
Florbetaben (18F)
Florbetapir (18F)
Flutemetamol (18F)
Galantamine
Galantamine
galantamine hydrobromide
rivastigmine
Rivastigmine tartrate
Selegiline
selegiline hydrochloride
Sodium Valproate
Tacrine
Tacrine Hydrochloride
Tocopherol Acetate
TOCOPHEROL,DL-ALPHA
Tocopherols
TOCOPHERYL ACID SUCCINATE
TOCOPHERYL ACID SUCCINATE,D-ALPHA
Trazodone
Valproic Acid
Vitamin E

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Alzheimer Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Alzheimer Disease:
NEUROSTEM-AD, human mesenchymal stem cells for the treatment of Alzheimer's disease
Embryonic/Adult Cultured Cells Related to Alzheimer Disease:
Umbilical cord blood-derived mesenchymal stem/progenitor cells PMIDs: 23293711 22015609

Cochrane evidence based reviews: alzheimer disease

Genetic Tests for Alzheimer Disease

Genetic tests related to Alzheimer Disease:

# Genetic test Affiliating Genes
1 Alzheimer's Disease 29 A2M APP HFE MPO NOS3 PLAU
2 Alzheimer Disease Familial 29
3 Alzheimer Disease 29

Anatomical Context for Alzheimer Disease

MalaCards organs/tissues related to Alzheimer Disease:

41
Brain, Testes, Cortex, Temporal Lobe, Heart, Endothelial, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alzheimer Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Brain Hippocampus Affected by disease
2 Brain Forebrain White Matter Fibrous Astrocyte Cells Affected by disease, potential therapeutic candidate
3 Blood Cord Blood Mesenchymal Stem Cells Potential therapeutic candidate
4 Brain Forebrain White Matter Myelinating Oligodendrocyte Cells Affected by disease
5 Brain Neocortex Protoplasmic Astrocyte Cells Affected by disease, potential therapeutic candidate

Publications for Alzheimer Disease

Articles related to Alzheimer Disease:

(show top 50) (show all 47439)
# Title Authors PMID Year
1
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. 38 8 71
22801501 2012
2
Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease. 38 8 71
16908746 2006
3
Towards compendia of negative genetic association studies: an example for Alzheimer disease. 38 8 71
16341549 2006
4
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. 38 8 71
16369530 2006
5
Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms. 38 8 71
15023809 2004
6
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. 8 71
19286555 2009
7
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. 8 71
15060098 2004
8
Current concepts in mild cognitive impairment. 8 71
11735772 2001
9
Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease. 9 38 71
20029940 2010
10
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. 9 38 8
20457965 2010
11
Implication of sex and SORL1 variants in italian patients with Alzheimer disease. 9 38 8
19822782 2009
12
A survey of ABCA1 sequence variation confirms association with dementia. 9 38 8
19606474 2009
13
Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease. 9 38 8
19738170 2009
14
Alpha7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease. 9 38 8
18071042 2007
15
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. 9 38 8
17220890 2007
16
Genetic association between endothelial nitric oxide synthase and Alzheimer disease. 9 38 71
16813604 2006
17
Reelin expression and glycosylation patterns are altered in Alzheimer's disease. 9 38 8
16567613 2006
18
Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese. 9 38 8
16040006 2005
19
Subgroups of Alzheimer's disease based on cerebrospinal fluid molecular markers. 9 38 8
16247771 2005
20
Correlation of cerebrospinal fluid levels of tau protein phosphorylated at threonine 231 with rates of hippocampal atrophy in Alzheimer disease. 9 38 8
15883264 2005
21
Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism. 9 38 8
15024730 2004
22
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. 9 38 8
14570706 2003
23
Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. 9 38 8
12533085 2003
24
NOS3 polymorphism not associated with Alzheimer's disease in Japanese. 9 38 71
11026457 2000
25
Association between Alzheimer's disease and the NOS3 gene. 9 38 71
10514107 1999
26
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. 9 38 8
10441572 1999
27
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. 9 38 8
9050898 1997
28
Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease. 38 8
30046111 2018
29
Microglia-derived ASC specks cross-seed amyloid-β in Alzheimer's disease. 38 8
29293211 2017
30
A Becn1 mutation mediates hyperactive autophagic sequestration of amyloid oligomers and improved cognition in Alzheimer's disease. 38 8
28806762 2017
31
Structural variation in amyloid-β fibrils from Alzheimer's disease clinical subtypes. 38 8
28052060 2017
32
A novel Aβ-fibrinogen interaction inhibitor rescues altered thrombosis and cognitive decline in Alzheimer's disease mice. 38 8
24821909 2014
33
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 38 71
24829003 2014
34
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 38 8
24162737 2013
35
Clinical and biomarker changes in dominantly inherited Alzheimer's disease. 38 8
22784036 2012
36
Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. 38 8
22278060 2012
37
Functional links between Aβ toxicity, endocytic trafficking, and Alzheimer's disease risk factors in yeast. 38 8
22033521 2011
38
Visinin-like protein-1: diagnostic and prognostic biomarker in Alzheimer disease. 38 8
21823155 2011
39
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 38 8
21460840 2011
40
Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. 38 8
21059989 2011
41
Meta-analysis of the association between variants in SORL1 and Alzheimer disease. 38 8
21220680 2011
42
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. 38 8
20697030 2010
43
Decreased clearance of CNS beta-amyloid in Alzheimer's disease. 38 8
21148344 2010
44
EFNS guidelines for the diagnosis and management of Alzheimer's disease. 38 71
20831773 2010
45
Modulation of gamma-secretase reduces beta-amyloid deposition in a transgenic mouse model of Alzheimer's disease. 38 8
20826309 2010
46
Replication of CLU, CR1, and PICALM associations with alzheimer disease. 38 8
20554627 2010
47
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. 38 8
20167577 2010
48
Preventing Alzheimer's disease and cognitive decline. 38 71
21500874 2010
49
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. 9 38 4
20375137 2010
50
A phase 2 multiple ascending dose trial of bapineuzumab in mild to moderate Alzheimer disease. 38 8
19923550 2009

Variations for Alzheimer Disease

ClinVar genetic disease variations for Alzheimer Disease:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MPO MPO, -463G-A single nucleotide variant protective,risk factor
2 APP NM_000484.4(APP): c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) inversion Pathogenic rs281865161 21:27269938-27269939 21:25897626-25897627
3 APP NM_000484.4(APP): c.2075C> G (p.Ala692Gly) single nucleotide variant Pathogenic rs63750671 21:27264170-27264170 21:25891858-25891858
4 APP NM_000484.4(APP): c.2149G> T (p.Val717Phe) single nucleotide variant Pathogenic rs63750264 21:27264096-27264096 21:25891784-25891784
5 APP NM_000484.4(APP): c.2149G> A (p.Val717Ile) single nucleotide variant Pathogenic rs63750264 21:27264096-27264096 21:25891784-25891784
6 APP NM_000484.4(APP): c.2018C> T (p.Ala673Val) single nucleotide variant Pathogenic rs193922916 21:27269931-27269931 21:25897619-25897619
7 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic rs1799945 6:26091179-26091179 6:26090951-26090951
8 MT-ND1 m.3397A> G single nucleotide variant Pathogenic rs199476120 MT:3397-3397 MT:3397-3397
9 PSEN1 NM_000021.4(PSEN1): c.424G> A (p.Val142Ile) single nucleotide variant Pathogenic 14:73640359-73640359 14:73173651-73173651
10 subset of 25 genes:APP NC_000021.7: g.13636378_28138533dup duplication Pathogenic 21:14714507-29216662 :0-0
11 APP APP, DUP duplication Pathogenic
12 APP NM_000484.4(APP): c.2080G> A (p.Asp694Asn) single nucleotide variant Pathogenic rs63749810 21:27264165-27264165 21:25891853-25891853
13 APP NM_000484.4(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 21:27264167-27264167 21:25891855-25891855
14 A2M NM_000014.5(A2M): c.2998A> G (p.Ile1000Val) single nucleotide variant risk factor rs669 12:9232268-9232268 12:9079672-9079672
15 CSF1R NM_005211.3(CSF1R): c.2671G> C (p.Ala891Pro) single nucleotide variant Likely pathogenic 5:149433977-149433977 5:150054414-150054414
16 CSF1R NM_005211.3(CSF1R): c.2326C> T (p.His776Tyr) single nucleotide variant Likely pathogenic 5:149435898-149435898 5:150056335-150056335
17 VCP NM_007126.5(VCP): c.409C> T (p.Pro137Ser) single nucleotide variant Likely pathogenic 9:35066708-35066708 9:35066711-35066711
18 PSEN1 NM_000021.4(PSEN1): c.510_511insTAT (p.Leu171_Leu172insTyr) insertion Likely pathogenic 14:73653590-73653591 14:73186882-73186883
19 PSEN1 NM_000021.4(PSEN1): c.665A> C (p.Gln222Pro) single nucleotide variant Likely pathogenic 14:73659468-73659468 14:73192760-73192760
20 PSEN1 NM_000021.4(PSEN1): c.869-1G> A single nucleotide variant Likely pathogenic 14:73673093-73673093 14:73206385-73206385
21 PSEN1 NM_000021.4(PSEN1): c.1177G> T (p.Val393Phe) single nucleotide variant Likely pathogenic 14:73683881-73683881 14:73217173-73217173
22 PSEN1 NM_000021.4(PSEN1): c.1297C> T (p.Pro433Ser) single nucleotide variant Likely pathogenic 14:73685890-73685890 14:73219182-73219182
23 GRN NM_002087.3(GRN): c.264+1G> A single nucleotide variant Likely pathogenic 17:42426920-42426920 17:44349552-44349552
24 MAPT NM_016835.4(MAPT): c.2035C> T (p.His679Tyr) single nucleotide variant Likely pathogenic 17:44096070-44096070 17:46018704-46018704
25 TNF NM_000594.3(TNF): c.-1037C> T single nucleotide variant risk factor rs1799724 6:31542482-31542482 6:31574705-31574705
26 PLAU NM_002658.5(PLAU): c.422C> T (p.Pro141Leu) single nucleotide variant risk factor rs2227564 10:75673101-75673101 10:73913343-73913343
27 PSEN2 NM_000447.3(PSEN2): c.389C> T (p.Ser130Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs63750197 1:227073271-227073271 1:226885570-226885570
28 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1800562 6:26093141-26093141 6:26092913-26092913
29 UNC13C NM_001080534.2(UNC13C): c.1324_1326del short repeat Uncertain significance rs746069739 15:54306424-54306426 15:54014227-54014229
30 APP NM_000484.4(APP): c.602C> T (p.Ala201Val) single nucleotide variant Uncertain significance rs149995579 21:27423376-27423376 21:26051060-26051060
31 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 6:26091185-26091185 6:26090957-26090957
32 APP NM_000484.4(APP): c.1280A> T (p.Asp427Val) single nucleotide variant Uncertain significance 21:27348286-27348286 21:25975973-25975973
33 APP NM_000484.4(APP): c.1090C> T (p.Leu364Phe) single nucleotide variant Uncertain significance 21:27369675-27369675 21:25997360-25997360
34 APP NM_000484.4(APP): c.1078_1087delinsC (p.Asp360_Lys363delinsGln) indel Uncertain significance 21:27369678-27369687 21:25997363-25997372
35 APP NM_000484.4(APP): c.1030G> A (p.Ala344Thr) single nucleotide variant Uncertain significance 21:27372333-27372333 21:26000018-26000018
36 APP NM_000484.4(APP): c.819_821CAC[5] (p.Thr279_Thr280del) short repeat Uncertain significance 21:27394182-27394187 21:26021867-26021869
37 APP NM_000484.4(APP): c.803G> A (p.Arg268Lys) single nucleotide variant Uncertain significance 21:27394218-27394218 21:26021902-26021902
38 APP NM_000484.4(APP): c.298C> T (p.Arg100Trp) single nucleotide variant Uncertain significance 21:27462316-27462316 21:26090000-26090000
39 APP NM_000484.4(APP): c.1090+4C> T single nucleotide variant Uncertain significance 21:27369671-27369671 21:25997356-25997356
40 APP NM_000484.4(APP): c.355+6C> T single nucleotide variant Uncertain significance rs1555873548 21:27462253-27462253 21:26089937-26089937
41 PSEN2 NM_000447.3(PSEN2): c.1316A> C (p.Asp439Ala) single nucleotide variant Uncertain significance rs63750110 1:227083249-227083249 1:226895548-226895548
42 APP NM_000484.4(APP): c.2137G> A (p.Ala713Thr) single nucleotide variant Uncertain significance rs63750066 21:27264108-27264108 21:25891796-25891796
43 PSEN1 NM_000021.4(PSEN1): c.104G> A (p.Arg35Gln) single nucleotide variant Uncertain significance rs63750592 14:73637521-73637521 14:73170813-73170813
44 APP NM_000484.4(APP): c.1650C> T (p.Asn550=) single nucleotide variant Likely benign rs201877705 21:27326941-27326941 21:25954627-25954627
45 APP NM_000484.3(APP): c.2212-12_2212-10delCTT deletion Likely benign rs753046287 21:27254092-27254094 21:25881781-25881783
46 CLU NM_001831.4(CLU): c.608C> T (p.Thr203Ile) single nucleotide variant Likely benign rs41276297 8:27462662-27462662 8:27605145-27605145
47 PCDH11X NM_032968.4(PCDH11X): c.2279A> T (p.Asp760Val) single nucleotide variant Likely benign rs781770086 X:91133518-91133518 X:91878519-91878519
48 PSEN2 NM_000447.3(PSEN2): c.185G> A (p.Arg62His) single nucleotide variant Benign/Likely benign rs58973334 1:227071449-227071449 1:226883748-226883748
49 PSEN1 NM_000021.4(PSEN1): c.953A> G (p.Glu318Gly) single nucleotide variant Benign/Likely benign rs17125721 14:73673178-73673178 14:73206470-73206470
50 APP NM_000484.4(APP): c.2212-10T> C single nucleotide variant Benign/Likely benign rs45513597 21:27254092-27254092 21:25881781-25881781

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

74 (show all 14)
# Symbol AA change Variation ID SNP ID
1 APP p.Ala692Gly VAR_000016 rs63750671
2 APP p.Ala713Thr VAR_000019 rs63750066
3 APP p.Ile716Val VAR_000020 rs63750399
4 APP p.Val717Ile VAR_000021 rs63750264
5 APP p.Val717Gly VAR_000022 rs63749964
6 APP p.Val717Phe VAR_000023 rs63750264
7 APP p.Val715Met VAR_010108 rs63750734
8 APP p.Leu723Pro VAR_010109 rs63751122
9 APP p.Glu693Gly VAR_014215 rs63751039
10 APP p.Thr714Ile VAR_014218 rs63750973
11 APP p.Val717Leu VAR_014219 rs63750264
12 APP p.Thr714Ala VAR_032277