AD1
MCID: ALZ065
MIFTS: 87

Alzheimer Disease, Familial, 1 (AD1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Alzheimer Disease, Familial, 1

MalaCards integrated aliases for Alzheimer Disease, Familial, 1:

Name: Alzheimer Disease, Familial, 1 57 5 36
Alzheimer Disease 57 11 24 19 42 73 28 5 43 38 31 33
Alzheimer's Disease 11 42 52 75 41 2 14 63 71
Presenile and Senile Dementia 57 42 73
Alzheimer Disease, Late-Onset, Susceptibility to 57 5
Alzheimer Disease, Susceptibility to 57 5
Alzheimer Disease 1, Familial 57 12
Familial Alzheimer Disease 42 71
Ad1 57 73
Ad 42 73
Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy 5
Early-Onset Alzheimer Disease with Cerebral Amyloid Angiopathy 73
Primary Senile Degenerative Dementia 42
Autosomal Dominant Alzheimer Disease 73
Dementia Due to Alzheimer's Disease 71
Alzheimer's Disease Pathway Kegg 71
Alzheimer Disease, Late-Onset 57
Late-Onset Alzheimers Disease 16
Alzheimer Disease Type 1 71
Alzheimer-Type Dementia 42
Alzheimers Dementia 11
Alzheimer Sclerosis 42
Alzheimer Disease 1 73
Alzheimer Dementia 42
Alzheimer Syndrome 42
Alzheimers Disease 53
Alzheimers 33
Sdat 42
Dat 42

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity


Classifications:



External Ids:

Disease Ontology 11 DOID:10652
OMIM® 57 104300
ICD9CM 34 331.0
MeSH 43 D000544
NCIt 49 C2866
SNOMED-CT 68 73768007
ICD11 33 1611724421
UMLS 71 C0002395 C0276496 C1521724 more

Summaries for Alzheimer Disease, Familial, 1

MedlinePlus Genetics: 42 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, Familial, 1, also known as alzheimer disease, is related to alzheimer disease 3 and nervous system disease, and has symptoms including tremor, myoclonus and back pain. An important gene associated with Alzheimer Disease, Familial, 1 is APP (Amyloid Beta Precursor Protein), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and miRNAs involved in DNA damage response. The drugs Levodopa and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include Brain, and related phenotypes are dementia and parkinsonism

NINDS: 52 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.

PubMed Health : 63 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.

UniProtKB/Swiss-Prot 73 Alzheimer disease 1: A form of Alzheimer disease, 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. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy.

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.

MedlinePlus: 41 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

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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

CDC: 2 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.

Wikipedia: 75 Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively... more...

GeneReviews: NBK1161

Related Diseases for Alzheimer Disease, Familial, 1

Diseases in the Late-Onset Familial Alzheimer Disease family:

Alzheimer Disease, Familial, 1 Alzheimer Disease 2
Alzheimer Disease 16 Alzheimer Disease 5
Alzheimer Disease 15 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 17 Alzheimer Disease 18
Alzheimer Disease 19 Alzheimer's Disease 1
Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1524)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 3 33.9 PSEN1 BACE1 APP
2 nervous system disease 33.7 PSEN1 NOS3 MPO MIR34A MIR328 MIR29B1
3 alzheimer disease 19 33.6 PSEN1 APP
4 alzheimer's disease 1 33.6 PSEN1 PLAU NOS3 MPO HFE-AS1 HFE
5 dementia, lewy body 33.1 PSEN1 BACE1 APP
6 mild cognitive impairment 33.1 PSEN1 MIR106B BACE1 APP
7 supranuclear palsy, progressive, 1 32.8 PSEN1 BACE1 APP
8 cerebral amyloid angiopathy, app-related 32.7 PSEN1 BACE1 APP
9 type 2 diabetes mellitus 32.5 NOS3 MT-ND1 MPO MIR34A MIR29A MIR146A
10 cerebrovascular disease 32.4 MIR29B1 MIR29A MIR146A BACE1 APP
11 diabetes mellitus 32.3 NOS3 MT-ND1 MPO MIR34A MIR29A MIR146A
12 toxic encephalopathy 32.3 PSEN1 MIR29A BACE1 APP
13 cerebral amyloid angiopathy, cst3-related 32.1 PSEN1 BACE1 APP
14 peripheral nervous system disease 32.1 PSEN1 MT-ND1 MPO MIR34A MIR29A MIR146A
15 frontotemporal dementia 32.0 PSEN1 MIR29B1 BACE1 APP
16 subjective cognitive decline 31.8 PSEN1 BACE1 APP
17 myocardial infarction 31.7 NOS3 MPO MIR34A MIR29B1 MIR29A MIR146A
18 lipoprotein quantitative trait locus 31.7 NOS3 MPO MIR34A MIR29B1 MIR29A MIR146A
19 amnestic disorder 31.6 PSEN1 BACE1 APP
20 vascular dementia 31.6 PSEN1 BACE1 APP
21 leukemia, acute myeloid 31.5 MPO MIR34A MIR328 MIR29B1 MIR29A MIR146A
22 body mass index quantitative trait locus 11 31.5 NOS3 MIR34A MIR29A MIR146A MIR106B HFE
23 disease of mental health 31.5 PSEN1 MIR29A MIR146A MIR106B BACE1 APP
24 gastrointestinal system disease 31.5 MIR34A MIR328 MIR29B1 MIR29A MIR146A MIR106B
25 cardiovascular system disease 31.5 NOS3 MPO MIR34A MIR29B1 MIR29A MIR146A
26 arteries, anomalies of 31.5 NOS3 MIR34A MIR29B1 MIR29A MIR146A
27 retinal disease 31.4 MIR29B1 MIR29A MIR146A MIR106B
28 connective tissue disease 31.4 MPO MIR34A MIR328 MIR29B1 MIR29A MIR146A
29 inclusion body myositis 31.4 PSEN1 MIR34A BACE1-AS BACE1 APP
30 central nervous system disease 31.3 MIR34A MIR29B1 MIR29A MIR146A MIR106B APP
31 eye disease 31.3 NOS3 MIR34A MIR328 MIR29B1 MIR29A MIR146A
32 leukemia, chronic lymphocytic 31.2 MIR34A MIR29B1 MIR29A MIR146A MIR107 MIR106B
33 myositis 31.2 PSEN1 BACE1 APP
34 hematologic cancer 31.2 MIR34A MIR29B1 MIR29A MIR146A MIR106B
35 pick disease of brain 31.1 PSEN1 BACE1 APP
36 malignant astrocytoma 31.0 MIR34A MIR328 MIR29B1 MIR146A MIR106B
37 microvascular complications of diabetes 7 31.0 HFE-AS1 HFE
38 carbohydrate metabolic disorder 30.9 MIR34A MIR29B1 MIR29A MIR146A
39 inherited metabolic disorder 30.9 MIR34A MIR29B1 MIR29A MIR146A MIR106B
40 reproductive system disease 30.9 MIR34A MIR29B1 MIR29A MIR146A MIR106B
41 early-onset, autosomal dominant alzheimer disease 30.8 PSEN1 APP
42 ischemia 30.8 NOS3 MPO MIR146A APP
43 visual agnosia 30.7 PSEN1 APP
44 heart valve disease 30.7 MIR34A MIR29B1 MIR146A
45 transferrin serum level quantitative trait locus 2 30.5 HFE-AS1 HFE
46 alzheimer disease 2 11.8
47 alzheimer disease 4 11.7
48 alzheimer disease 6 11.7
49 alzheimer disease 9 11.7
50 late-onset familial alzheimer disease 11.6

Comorbidity relations with Alzheimer Disease, Familial, 1 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 Lobar Degeneration Heart Disease
Hypoglycemia Hypothyroidism
Intermittent Explosive Disorder 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 Status Epilepticus

Graphical network of the top 20 diseases related to Alzheimer Disease, Familial, 1:



Diseases related to Alzheimer Disease, Familial, 1

Symptoms & Phenotypes for Alzheimer Disease, Familial, 1

Human phenotypes related to Alzheimer Disease, Familial, 1:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia 30 HP:0000726
2 parkinsonism 30 HP:0001300
3 neurofibrillary tangles 30 HP:0002185
4 senile plaques 30 HP:0100256
5 alzheimer disease 30 HP:0002511
6 long-tract signs 30 HP:0002423
7 decreased circulating gaba concentration 30 HP:0410054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
parkinsonism
presenile and senile dementia
long tract signs
neurofibrillary tangles composed of disordered microtubules

Clinical features from OMIM®:

104300 (Updated 08-Dec-2022)

UMLS symptoms related to Alzheimer Disease, Familial, 1:


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

Drugs & Therapeutics for Alzheimer Disease, Familial, 1

PubMed Health treatment related to Alzheimer Disease, Familial, 1: 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, and help 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, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 569)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7, 63-84-3 6047
2
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
3
Nicotine Approved Phase 4 54-11-5 942 89594
4
Acetylcarnitine Approved, Investigational Phase 4 3040-38-8
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
Atropine Approved, Vet_approved Phase 4 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
8
Simvastatin Approved Phase 4 79902-63-9 54454
9
Acetaminophen Approved Phase 4 103-90-2 1983
10
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
11
Dextroamphetamine Approved, Illicit, Investigational Phase 4 51-64-9, 300-62-9 5826 3007
12
Haloperidol Approved Phase 4 52-86-8 3559
13
Sertraline Approved Phase 4 79617-96-2 68617
14
Pravastatin Approved Phase 4 81093-37-0 54687
15
Ramipril Approved Phase 4 87333-19-5 5362129
16
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
17
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
18
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
19
Atorvastatin Approved Phase 4 134523-00-5 60823
20
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
21
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
22
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
23
Lithium carbonate Approved Phase 4 554-13-2
24
Huperzine A Approved, Experimental Phase 4 102518-79-6
25
Galantamine Approved Phase 4 357-70-0, 1953-04-4 9651
26
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
27
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
28
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
29
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
30
Dextromethorphan Approved Phase 4 125-71-3 5362449 5360696
31
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
32
Quinidine Approved, Investigational Phase 4 56-54-2, 130-95-0, 804-63-7 1065 441074 3034034 8549
33
Sodium oxybate Approved Phase 4 502-85-2 23663870
34
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
35
Tryptophan Approved, Nutraceutical, Withdrawn Phase 4 73-22-3 6305
36
Choline Approved, Nutraceutical Phase 4 62-49-7 305
37
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
38
Tandospirone Investigational Phase 4 87760-53-0 5378 91273
39
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
40
Corticosterone Experimental Phase 4 50-22-6 5753
41 Fallypride Investigational Phase 4 166173-78-0 23276756
42 Phosphodiesterase Inhibitors Phase 4
43 Antimetabolites Phase 4
44 Hypolipidemic Agents Phase 4
45 Lipid Regulating Agents Phase 4
46 Hormones Phase 4
47 Calcium, Dietary Phase 4
48 calcium channel blockers Phase 4
49 Serotonin Receptor Agonists Phase 4
50 Antiparkinson Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 2804)
# Name Status NCT ID Phase Drugs
1 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
2 Monitoring Anti-Dementia Drugs by Serum Levels: Importance of Serum Levels, Drug-monitoring, Side-effects, Clinical Efficacy and Compliance (Translation of Official Danish Title) Unknown status NCT04117178 Phase 4 Donepezil;Memantine
3 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
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 Comparison of Therapeutic Strategies With Cholinesterase Inhibitors: Stop or Still (SOS) Trial Unknown status NCT03454646 Phase 4 cholinesterase inhibitors (CI) (donepezil, galantamine or rivastigmine)
6 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
7 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
8 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®)
9 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Dementia/MCI) Unknown status NCT00306124 Phase 4 Levodopa
10 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
11 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
12 Phase IV Study of General Clinical Research Center Of the Jinan Mental Hospital(TAIWAN) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
13 Effect of the Stage Specific Cognitive Intervention Program on Functional Cortical Activation in Alzheimer's Disease Unknown status NCT01329601 Phase 4
14 Effect of Choline Alphoscerate on Cognitive Function in Alzheimer's Dementia: A Multi-center, Randomized, Open-label, Pilot Study Unknown status NCT03441516 Phase 4 Alfoatirin® Tab. + Aripezil® Tab.;Aripezil® Tab.
15 Verbal Memory ERPs as Indices of Treatment Response in Alzheimer Disease Completed NCT00018278 Phase 4 Aricept;Exelon;Nicoderm Patch
16 A Multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Assess the Efficacy of Acetyl-L-carnitine in Patient With Alzheimer's Disease Completed NCT02955706 Phase 4 Acetyl-L-Carnitine;Placebo of Acetyl-L-Carnitine
17 An Open-label Exploratory Study With Memantine: Correlation Between Proton Magnetic Resonance Spectroscopy, Cerebrospinal Fluid Biomarkers, and Cognition in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
18 Antipsychotic Discontinuation in Alzheimer's Disease Completed NCT00417482 Phase 4 risperidone
19 The Effect of Anticholinesterase Drugs on Sleep in Alzheimer's Disease Patients Completed NCT00480870 Phase 4 donepezil;Placebo
20 Phase 4 Study of Cognitive Therapy and Donepezil in Alzheimers Disease. Completed NCT00443014 Phase 4
21 Multi-Center, Double-Blind, Placebo-Controlled, Monotherapy Study of Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease Completed NCT00867828 Phase 4
22 Detecting an Early Response to Donepezil With Measures of Visual Attention Completed NCT03073876 Phase 4 Donepezil Hydrochloride;Placebo
23 Olfactory Deficits and Donepezil Treatment in Cognitively Impaired Elderly Completed NCT01951118 Phase 4 Donepezil
24 Low-Dose Opiate Therapy for Discomfort in Dementia (L-DOT) Completed NCT00385684 Phase 4 hydrocodone/APAP w placebo PRN;hydrocodone/APAP;placebo with hydrocodone/APAP PRN
25 The Role of the Dopaminergic Brain Reward System in Apathy Associated With Alzheimer's Disease Completed NCT00254033 Phase 4 Dextroamphetamine;Methylphenidate
26 Randomized Comparison of Monotherapy (Risperidone, Quetiapine, or Olanzapine) Versus Combination Therapy (Risperidone, Quetiapine, or Olanzapine + Divalproex)in the Management of Dementia With Agitation: A Pilot Comparison of Two Standard Therapies Completed NCT00208819 Phase 4 risperidone;quetiapine;olanzapine;divalproex
27 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
28 The Depression in Alzheimer's Disease Study (DIADS) Completed NCT00009191 Phase 4 Sertraline [Zoloft]
29 Cognitive Enhancers Explored With PET Imaging Completed NCT00042172 Phase 4 Donepezil;Ginkgo Biloba Extract
30 The Effect of Short-Term Statin and NSAID Treatment on CSF Beta-Amyloid Completed NCT00046358 Phase 4 Lovostatin;Ibuprofen
31 A Double-blind, Randomized Pilot Study to Evaluate the Effects of Galantamine and Donepezil on Sleep and Attention and Gastrointestinal (GI) Tolerance in Patients With Mild to Moderate Alzheimer's Disease (AD) Completed NCT00035204 Phase 4 galantamine
32 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
33 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage Alzheimer's Disease Having Coexisting Small Vessel Cerebrovascular Disease Completed NCT02444637 Phase 4 Rivastigmine
34 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4 Donepezil HCL
35 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
36 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
37 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
38 Safety and Efficacy of Donepezil in Mild to Moderate Alzheimer's Disease: A Multi-center Single-arm Study in China Completed NCT02787746 Phase 4 Donepezil
39 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)
40 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 hydrochloride
41 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
42 A 1-year Randomised, Double-blind Placebo-controlled Study to Evaluate the Effects of Memantine on Rate of Brain Atrophy in Patients With Alzheimer's Disease Completed NCT00862940 Phase 4 Memantine;Placebo
43 A Randomised, Double-blind, Placebo-controlled, 6-month Study of the Efficacy and Safety of Memantine in Patients With Parkinson's Disease Dementia or Dementia With Lewy Bodies Completed NCT00855686 Phase 4 Memantine;Placebo
44 Evaluation of Reader Training Processes by Comparing Clinical Interpretations to Centralized Expert Reads Completed NCT02051790 Phase 4 florbetapir F 18
45 Methylphenidate for Apathy in Alzheimer's Dementia: A Controlled Study Completed NCT00495820 Phase 4 Methylphenidate
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 A 12-Week Randomized, Double-blind, Parallel-group, Placebo-controlled Trial With and Open-label, 12-week Extension, Multicenter to Evaluation of the Efficacy of Escitalopram for the Treatment of Depression in Alzheimer's Disease Completed NCT01841125 Phase 4 escitalopram;Placebo
48 Multicenter Study to Explore the Impact of Florbetaben (FBB) in Change of Diagnosis in Patients Who Are Evaluated for AD and in Whom Lumbar Puncture is Contraindicated or CSF Results Are Ambiguous Completed NCT02681172 Phase 4 Neuraceq (florbetaben 18F)
49 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
50 Memantine Versus Donepezil in Mild to Moderate Alzheimer's Disease. A Randomized Trial With Magnetic Resonance Spectroscopy. Completed NCT00505167 Phase 4 Memantine;Donepezil

Search NIH Clinical Center for Alzheimer Disease, Familial, 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


alpha-Tocopherol Acetate
d-alpha-Tocopheryl Acetate
Divalproex Sodium
dl-alpha tocopheryl acetate
donepezil
Donepezil hydrochloride
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
Valproic Acid
Vitamin E

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Alzheimer Disease, Familial, 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Alzheimer Disease, Familial, 1:
NEUROSTEM-AD, human mesenchymal stem cells for the treatment of Alzheimer's disease
Embryonic/Adult Cultured Cells Related to Alzheimer Disease, Familial, 1:
Umbilical cord blood-derived mesenchymal stem/progenitor cells PMIDs: 23293711 22015609

Cochrane evidence based reviews: alzheimer disease

Genetic Tests for Alzheimer Disease, Familial, 1

Genetic tests related to Alzheimer Disease, Familial, 1:

# Genetic test Affiliating Genes
1 Alzheimer Disease 28 APP

Anatomical Context for Alzheimer Disease, Familial, 1

Organs/tissues related to Alzheimer Disease, Familial, 1:

MalaCards : Brain, Cortex, Bone Marrow, Prefrontal Cortex, Eye, Retina, Temporal Lobe
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alzheimer Disease, Familial, 1:
# 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, Familial, 1

Articles related to Alzheimer Disease, Familial, 1:

(show top 50) (show all 52350)
# Title Authors PMID Year
1
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. 53 62 57 5
10441572 1999
2
Towards compendia of negative genetic association studies: an example for Alzheimer disease. 62 57 5
16341549 2006
3
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. 62 57 5
16369530 2006
4
An African American family with early-onset Alzheimer disease and an APP (T714I) mutation. 62 57 5
15668448 2005
5
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 62 57 5
15365148 2004
6
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. 62 57 5
15060098 2004
7
Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms. 62 57 5
15023809 2004
8
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 62 57 5
1302033 1992
9
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 62 57 5
1925564 1991
10
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 62 57 5
1678058 1991
11
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 62 57 5
1671712 1991
12
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. 57 5
19286555 2009
13
Current concepts in mild cognitive impairment. 57 5
11735772 2001
14
Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene. 57 5
1520398 1992
15
The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. 57 5
1908231 1991
16
Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease. 53 62 5
20029940 2010
17
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. 53 62 57
20457965 2010
18
Implication of sex and SORL1 variants in italian patients with Alzheimer disease. 53 62 57
19822782 2009
19
A survey of ABCA1 sequence variation confirms association with dementia. 53 62 57
19606474 2009
20
Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease. 53 62 57
19738170 2009
21
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. 53 62 5
18413473 2008
22
Alpha7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease. 53 62 57
18071042 2007
23
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. 53 62 57
17220890 2007
24
Genetic association between endothelial nitric oxide synthase and Alzheimer disease. 53 62 5
16813604 2006
25
Reelin expression and glycosylation patterns are altered in Alzheimer's disease. 53 62 57
16567613 2006
26
Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures. 53 62 57
16302009 2006
27
Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese. 53 62 57
16040006 2005
28
Subgroups of Alzheimer's disease based on cerebrospinal fluid molecular markers. 53 62 57
16247771 2005
29
Correlation of cerebrospinal fluid levels of tau protein phosphorylated at threonine 231 with rates of hippocampal atrophy in Alzheimer disease. 53 62 57
15883264 2005
30
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. 53 62 57
15649702 2005
31
Reduction of cortical TrkA but not p75(NTR) protein in early-stage Alzheimer's disease. 53 62 57
15455399 2004
32
Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism. 53 62 57
15024730 2004
33
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. 53 62 57
14570706 2003
34
Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. 53 62 57
12533085 2003
35
Levels of alpha- and beta-secretase cleaved amyloid precursor protein in the cerebrospinal fluid of Alzheimer's disease patients. 53 62 57
10653020 2000
36
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. 53 62 57
9050898 1997
37
The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway. 53 62 5
7489411 1995
38
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. 53 62 5
1944558 1991
39
APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. 53 62 5
1679288 1991
40
Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease. 62 57
30046111 2018
41
Microglia-derived ASC specks cross-seed amyloid-β in Alzheimer's disease. 62 57
29293211 2017
42
A Becn1 mutation mediates hyperactive autophagic sequestration of amyloid oligomers and improved cognition in Alzheimer's disease. 62 57
28806762 2017
43
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 62 5
28350801 2017
44
Structural variation in amyloid-β fibrils from Alzheimer's disease clinical subtypes. 62 57
28052060 2017
45
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. 62 5
27838006 2017
46
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China. 62 5
24650794 2014
47
The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. 62 5
24524897 2014
48
A novel Aβ-fibrinogen interaction inhibitor rescues altered thrombosis and cognitive decline in Alzheimer's disease mice. 62 57
24821909 2014
49
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 62 57
24162737 2013
50
Clinical and biomarker changes in dominantly inherited Alzheimer's disease. 62 57
22784036 2012

Variations for Alzheimer Disease, Familial, 1

ClinVar genetic disease variations for Alzheimer Disease, Familial, 1:

5 (show top 50) (show all 252)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND1 m.3397A>G SNV Pathogenic
9726 rs199476120 GRCh37: MT:3397-3397
GRCh38: MT:3397-3397
2 APP NM_000484.4(APP):c.2018C>T (p.Ala673Val) SNV Pathogenic
18106 rs193922916 GRCh37: 21:27269931-27269931
GRCh38: 21:25897619-25897619
3 overlap with 25 genes NC_000021.7:g.13636378_28138533dup DUP Pathogenic
127268 GRCh37: 21:14714507-29216662
GRCh38:
4 APP APP, DUP DUP Pathogenic
18104 GRCh37:
GRCh38:
5 APP NM_000484.4(APP):c.2080G>A (p.Asp694Asn) SNV Pathogenic
18101 rs63749810 GRCh37: 21:27264165-27264165
GRCh38: 21:25891853-25891853
6 PSEN1 NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) SNV Pathogenic
599627 rs1566630910 GRCh37: 14:73640359-73640359
GRCh38: 14:73173651-73173651
7 APP NC_000021.8:g.(?_27251861)_(27544138_?)dup DUP Pathogenic
1353302 GRCh37: 21:27251861-27544138
GRCh38:
8 APP NM_000484.4(APP):c.2149G>A (p.Val717Ile) SNV Pathogenic
Pathogenic
18088 rs63750264 GRCh37: 21:27264096-27264096
GRCh38: 21:25891784-25891784
9 APP NM_000484.4(APP):c.2149G>T (p.Val717Phe) SNV Pathogenic
Pathogenic
18089 rs63750264 GRCh37: 21:27264096-27264096
GRCh38: 21:25891784-25891784
10 APP NM_000484.4(APP):c.2150T>G (p.Val717Gly) SNV Pathogenic
18090 rs63749964 GRCh37: 21:27264095-27264095
GRCh38: 21:25891783-25891783
11 APP NM_000484.4(APP):c.2075C>G (p.Ala692Gly) SNV Pathogenic
Not Provided
18091 rs63750671 GRCh37: 21:27264170-27264170
GRCh38: 21:25891858-25891858
12 APP NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) INVERS Pathogenic
Pathogenic
18093 rs281865161 GRCh37: 21:27269938-27269939
GRCh38: 21:25897626-25897627
13 MPO NM_000250.2(MPO):c.2031-2A>C SNV Pathogenic
3632 rs35897051 GRCh37: 17:56348226-56348226
GRCh38: 17:58270865-58270865
14 HFE-AS1, HFE NM_000410.4(HFE):c.187C>G (p.His63Asp) SNV Pathogenic
10 rs1799945 GRCh37: 6:26091179-26091179
GRCh38: 6:26090951-26090951
15 APP NM_000484.4(APP):c.2149G>C (p.Val717Leu) SNV Pathogenic
18105 rs63750264 GRCh37: 21:27264096-27264096
GRCh38: 21:25891784-25891784
16 APP NM_000484.4(APP):c.2140A>G (p.Thr714Ala) SNV Pathogenic
18102 rs63750643 GRCh37: 21:27264105-27264105
GRCh38: 21:25891793-25891793
17 APP NM_000484.4(APP):c.2141C>T (p.Thr714Ile) SNV Pathogenic
18100 rs63750973 GRCh37: 21:27264104-27264104
GRCh38: 21:25891792-25891792
18 APP NM_000484.4(APP):c.2078A>G (p.Glu693Gly) SNV Pathogenic
Not Provided
18098 rs63751039 GRCh37: 21:27264167-27264167
GRCh38: 21:25891855-25891855
19 APP NM_000484.4(APP):c.2143G>A (p.Val715Met) SNV Pathogenic
18097 rs63750734 GRCh37: 21:27264102-27264102
GRCh38: 21:25891790-25891790
20 APP NM_000484.4(APP):c.2146A>G (p.Ile716Val) SNV Pathogenic
18096 rs63750399 GRCh37: 21:27264099-27264099
GRCh38: 21:25891787-25891787
21 APP NM_000484.4(APP):c.1995G>C (p.Glu665Asp) SNV Pathogenic
18095 rs63750363 GRCh37: 21:27269954-27269954
GRCh38: 21:25897642-25897642
22 APP NM_000484.4(APP):c.2137G>A (p.Ala713Thr) SNV Pathogenic
Uncertain Significance
18094 rs63750066 GRCh37: 21:27264108-27264108
GRCh38: 21:25891796-25891796
23 APP NM_000484.4(APP):c.2077G>C (p.Glu693Gln) SNV Pathogenic
18087 rs63750579 GRCh37: 21:27264168-27264168
GRCh38: 21:25891856-25891856
24 APP NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val) INDEL Pathogenic
1457308 GRCh37: 21:27264099-27264100
GRCh38: 21:25891787-25891788
25 overlap with 9 genes DUP Pathogenic
1184625 GRCh37: 21:26253828-30011000
GRCh38:
26 HFE NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) SNV Pathogenic
Risk Factor
9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913
27 APP NM_000484.4(APP):c.2155A>C (p.Thr719Pro) SNV Likely Pathogenic
1342870 GRCh37: 21:27264090-27264090
GRCh38: 21:25891778-25891778
28 HFE-AS1, HFE NM_000410.4(HFE):c.76+2T>C SNV Likely Pathogenic
1685344 GRCh37: 6:26087746-26087746
GRCh38: 6:26087518-26087518
29 APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg) SNV Likely Pathogenic
17864 rs429358 GRCh37: 19:45411941-45411941
GRCh38: 19:44908684-44908684
30 PSEN1 NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) SNV Likely Pathogenic
599628 rs1566656702 GRCh37: 14:73683881-73683881
GRCh38: 14:73217173-73217173
31 VCP NM_007126.5(VCP):c.409C>T (p.Pro137Ser) SNV Likely Pathogenic
599629 rs866101707 GRCh37: 9:35066708-35066708
GRCh38: 9:35066711-35066711
32 CSF1R NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro) SNV Likely Pathogenic
599607 rs1561901881 GRCh37: 5:149433977-149433977
GRCh38: 5:150054414-150054414
33 CSF1R NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) SNV Likely Pathogenic
599608 rs1561905293 GRCh37: 5:149435898-149435898
GRCh38: 5:150056335-150056335
34 GRN NM_002087.4(GRN):c.264+1G>A SNV Likely Pathogenic
599611 rs1567885728 GRCh37: 17:42426920-42426920
GRCh38: 17:44349552-44349552
35 MAPT NM_001377265.1(MAPT):c.2260C>T (p.His754Tyr) SNV Likely Pathogenic
599620 rs1568339995 GRCh37: 17:44096070-44096070
GRCh38: 17:46018704-46018704
36 PSEN1 NM_000021.4(PSEN1):c.869-1G>A SNV Likely Pathogenic
599622 rs63750219 GRCh37: 14:73673093-73673093
GRCh38: 14:73206385-73206385
37 PSEN1 NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) SNV Likely Pathogenic
599623 rs63750009 GRCh37: 14:73659468-73659468
GRCh38: 14:73192760-73192760
38 PSEN1 NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr) INSERT Likely Pathogenic
599624 rs1566638673 GRCh37: 14:73653589-73653590
GRCh38: 14:73186881-73186882
39 PSEN1 NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) SNV Likely Pathogenic
599625 rs1566657804 GRCh37: 14:73685890-73685890
GRCh38: 14:73219182-73219182
40 NOS3 NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) SNV Risk Factor
14015 rs1799983 GRCh37: 7:150696111-150696111
GRCh38: 7:150999023-150999023
41 C10orf55, PLAU NM_002658.6(PLAU):c.422= (p.Leu141=) SNV Risk Factor
12265 rs2227564 GRCh37: 10:75673101-75673101
GRCh38: 10:73913343-73913343
42 TF NM_001063.4(TF):c.1765C>T (p.Pro589Ser) SNV Risk Factor
12617 rs1049296 GRCh37: 3:133494354-133494354
GRCh38: 3:133775510-133775510
43 MPO, LOC106694315 NG_009629.1:g.4535G>A SNV Risk Factor
3633 GRCh37: 17:56358762-56358762
GRCh38: 17:58281401-58281401
44 TNF NM_000594.3(TNF):c.-1037C>T SNV Risk Factor
12389 rs1799724 GRCh37: 6:31542482-31542482
GRCh38: 6:31574705-31574705
45 APP NM_000484.4(APP):c.1810G>A (p.Val604Met) SNV Conflicting Interpretations Of Pathogenicity
339632 rs199887707 GRCh37: 21:27284152-27284152
GRCh38: 21:25911840-25911840
46 APP NM_000484.3(APP):c.-626C>T SNV Conflicting Interpretations Of Pathogenicity
1156848 GRCh37: 21:27543564-27543564
GRCh38: 21:26171246-26171246
47 APP NM_000484.4(APP):c.1458+10G>A SNV Conflicting Interpretations Of Pathogenicity
585429 rs201290605 GRCh37: 21:27347373-27347373
GRCh38: 21:25975060-25975060
48 APP NM_000484.4(APP):c.663-9C>A SNV Conflicting Interpretations Of Pathogenicity
524209 rs199587668 GRCh37: 21:27394367-27394367
GRCh38: 21:26022051-26022051
49 APP NM_000484.4(APP):c.1689T>C (p.Asp563=) SNV Conflicting Interpretations Of Pathogenicity
339633 rs137865262 GRCh37: 21:27284273-27284273
GRCh38: 21:25911961-25911961
50 APP NM_000484.4(APP):c.885C>T (p.Ala295=) SNV Conflicting Interpretations Of Pathogenicity
704545 rs199890425 GRCh37: 21:27372478-27372478
GRCh38: 21:26000163-26000163

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease, Familial, 1:

73 (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 rs63750643
13 APP p.Asp678Asn VAR_044424 rs63750064
14 UNC5C p.Thr835Met VAR_081368 rs137875858

Copy number variations for Alzheimer Disease, Familial, 1 from CNVD:

6 (show all 34)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 177838 3 63700000 71800000 Rearrangement MAGI1 Alzheimer''s disease
2 222429 7 15200000 19500000 Rearrangement MEOX2 Alzheimer''s disease
3 132107 19 57600000 63811651 Rearrangement HAS1 Alzheimer''s disease
4 132106 19 57600000 63811651 Rearrangement FPR3 Alzheimer''s disease
5 132105 19 57600000 63811651 Rearrangement FPR2 Alzheimer''s disease
6 132104 19 57600000 63811651 Rearrangement FPR1 Alzheimer''s disease
7 131217 19 53800000 57600000 Rearrangement KLK6 Alzheimer''s disease
8 89421 15 18400000 23300000 Duplication WHAMMP3 Alzheimer''s disease
9 89420 15 18400000 23300000 Duplication TUBGCP5 Alzheimer''s disease
10 89419 15 18400000 23300000 Duplication NIPA2 Alzheimer''s disease
11 89418 15 18400000 23300000 Duplication NIPA1 Alzheimer''s disease
12 89417 15 18400000 23300000 Duplication CYFIP1 Alzheimer''s disease
13 87265 14 72672931 72756862 Mutation PSEN1 Alzheimer''s disease
14 83018 14 19100000 23600000 Copy number Alzheimer''s disease
15 69200 12 5400000 10100000 Gain or loss A2M Alzheimer''s disease
16 62271 12 107500000 110200000 Rearrangement USP30 Alzheimer''s disease
17 62270 12 107500000 110200000 Rearrangement SVOP Alzheimer''s disease
18 48308 11 1 10700000 Gain Alzheimer''s disease
19 28769 1 225124895 225150427 Mutation PSEN2 Alzheimer''s disease
20 27244 1 205885080 205964676 Copy number CR1L Alzheimer''s disease
21 26161 1 197500000 212100000 Deletion CR1 Alzheimer''s disease
22 157959 21 27252861 27543446 Copy number APP Alzheimer''s disease
23 157908 21 26174731 26465003 Mutation APP Alzheimer''s disease
24 157907 21 26174731 26465003 Duplication APP Alzheimer''s disease
25 157906 21 26174731 26465003 Duplication APP Alzheimer''s disease
26 157350 21 15300000 30500000 Gain APP Alzheimer''s disease
27 157348 21 15300000 30500000 Duplication APP Alzheimer''s disease
28 157346 21 15300000 30500000 Copy number APP Alzheimer''s disease
29 143680 2 23900000 27700000 Rearrangement TRIM54 Alzheimer''s disease
30 143679 2 23900000 27700000 Rearrangement SLC30A3 Alzheimer''s disease
31 143678 2 23900000 27700000 Rearrangement DNAJC5G Alzheimer''s disease
32 132492 19 59100000 61400000 Rearrangement NLRP8 Alzheimer''s disease
33 132491 19 59100000 61400000 Rearrangement NLRP5 Alzheimer''s disease
34 109407 17 25800000 31800000 Copy number BLMH Alzheimer''s disease

Expression for Alzheimer Disease, Familial, 1

LifeMap Discovery
Genes differentially expressed in tissues of Alzheimer Disease, Familial, 1 patients vs. healthy controls: 35 (show top 50) (show all 96)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 Brain - 7.64 0.000
2 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 Brain - 7.38 0.000
3 RPH3A rabphilin 3A Brain - 7.38 0.000
4 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 Brain - 7.16 0.000
5 ELMOD1 ELMO domain containing 1 Brain - 7.16 0.000
6 NELL2 neural EGFL like 2 Brain - 7.16 0.000
7 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 Brain - 7.16 0.000
8 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 Brain - 6.97 0.000
9 ICAM5 intercellular adhesion molecule 5 Brain - 6.97 0.000
10 PAK1 p21 (RAC1) activated kinase 1 Brain - 6.97 0.000
11 PDE2A phosphodiesterase 2A Brain - 6.97 0.000
12 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 Brain - 6.80 0.000
13 PI4KA phosphatidylinositol 4-kinase alpha Brain - 6.80 0.000
14 PREPL prolyl endopeptidase like Brain - 6.80 0.000
15 SLIT1 slit guidance ligand 1 Brain - 6.80 0.000
16 CLSTN3 calsyntenin 3 Brain - 6.64 0.000
17 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A Brain - 6.51 0.000
18 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 Brain - 6.51 0.000
19 CAMK1G calcium/calmodulin dependent protein kinase IG Brain - 6.38 0.000
20 KCNIP4 potassium voltage-gated channel interacting protein 4 Brain - 6.38 0.000
21 SLC23A2 solute carrier family 23 member 2 Brain - 6.38 0.000
22 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B Brain - 6.16 0.000
23 FARSB phenylalanyl-tRNA synthetase subunit beta Brain - 6.16 0.000
24 HACD3 3-hydroxyacyl-CoA dehydratase 3 Brain - 6.16 0.000
25 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 Brain - 6.06 0.000
26 FAM120B family with sequence similarity 120B Brain - 6.06 0.000
27 ITFG1 integrin alpha FG-GAP repeat containing 1 Brain - 6.06 0.000
28 PRDM8 PR/SET domain 8 Brain - 6.06 0.000
29 EGFEM1P EGF like and EMI domain containing 1, pseudogene Blood - 4.44 0.000
30 ZMYND11 zinc finger MYND-type containing 11 Blood - 4.32 0.000
31 FFAR4 free fatty acid receptor 4 Blood - 4.18 0.000
32 PAQR9 progestin and adipoQ receptor family member 9 Blood - 3.92 0.000
33 EDNRB endothelin receptor type B Blood - 3.92 0.002
34 JCAD junctional cadherin 5 associated Blood - 3.76 0.000
35 LOC100507006 uncharacterized LOC100507006 Brain + 3.73 0.000
36 SLC17A8 solute carrier family 17 member 8 Blood + 3.71 0.001
37 AZU1 azurocidin 1 Blood + 3.70 0.024
38 TAT tyrosine aminotransferase Blood - 3.70 0.004
39 GPRC5B G protein-coupled receptor class C group 5 member B Blood - 3.59 0.005
40 CXCL3 C-X-C motif chemokine ligand 3 Blood + 3.59 0.004
41 ARPP21 cAMP regulated phosphoprotein 21 Blood + 3.55 0.004
42 KCNK1 potassium two pore domain channel subfamily K member 1 Blood - 3.55 0.003
43 KITLG KIT ligand Blood + 3.53 0.001
44 DNMBP dynamin binding protein Blood - 3.49 0.002
45 TAAR1 trace amine associated receptor 1 Blood - 3.49 0.021
46 ARL10 ADP ribosylation factor like GTPase 10 Blood - 3.47 0.000
47 LMBRD2 LMBR1 domain containing 2 Blood - 3.43 0.002
48 LAMB4 laminin subunit beta 4 Blood - 3.43 0.001
49 RHOJ ras homolog family member J Blood - 3.41 0.007
50 AKR1D1 aldo-keto reductase family 1 member D1 Blood - 3.37 0.019
Search GEO for disease gene expression data for Alzheimer Disease, Familial, 1.

Pathways for Alzheimer Disease, Familial, 1



Pathways directly related to Alzheimer Disease, Familial, 1:

# Pathway Source
1 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Reactome 66
2 Defective Base Excision Repair Associated with OGG1 Reactome 66
3 Defective OGG1 Substrate Processing Reactome 66

GO Terms for Alzheimer Disease, Familial, 1

Cellular components related to Alzheimer Disease, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10 PLAU MPO MIR328 MIR29B1 MIR29A MIR146A
2 RISC complex GO:0016442 9.73 MIR328 MIR29B1 MIR29A MIR146A MIR107 MIR106B
3 extracellular vesicle GO:1903561 9.02 MIR34A MIR29B1 MIR29A MIR107 MIR106B

Biological processes related to Alzheimer Disease, Familial, 1 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 10.27 MIR29A MIR298 MIR146A MIR107 MIR106B MIR29B1
2 positive regulation of apoptotic process GO:0043065 10.13 MIR146A MIR29A MIR29B1 PSEN1 UNC5C
3 positive regulation of gene expression GO:0010628 10.1 APP HFE MIR146A MIR29A MIR29B1 MIR34A
4 neuron projection maintenance GO:1990535 9.92 PSEN1 APP
5 cellular response to manganese ion GO:0071287 9.91 BACE1 APP
6 negative regulation of gene expression GO:0010629 9.91 APP MIR106B MIR146A MIR29A MIR29B1 MIR34A
7 amyloid-beta formation GO:0034205 9.9 PSEN1 BACE1
8 positive regulation of amyloid fibril formation GO:1905908 9.87 PSEN1 APP
9 astrocyte activation involved in immune response GO:0002265 9.84 PSEN1 APP
10 negative regulation of angiogenesis GO:0016525 9.83 MIR106B MIR146A MIR29A MIR34A
11 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.78 APP PSEN1
12 negative regulation of protein kinase B signaling GO:0051898 9.71 MIR34A MIR29B1 MIR29A MIR146A
13 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.69 PSEN1 APP
14 negative regulation of amyloid-beta formation GO:1902430 9.67 MIR298 MIR29B1 MIR29A
15 negative regulation of collagen biosynthetic process GO:0032966 9.61 MIR29A MIR29B1
16 negative regulation of vascular endothelial growth factor production GO:1904046 9.61 MIR107 MIR146A MIR34A
17 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.59 PSEN1 APP
18 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.58 MIR29B1 MIR29A
19 negative regulation of intracellular signal transduction GO:1902532 9.56 MIR146A MIR34A
20 cellular response to amyloid-beta GO:1904646 9.56 PSEN1 MIR146A MIR106B BACE1 APP
21 negative regulation of matrix metallopeptidase secretion GO:1904465 9.55 MIR29B1 MIR146A
22 negative regulation of circulating fibrinogen levels GO:0061754 9.46 MIR29A MIR29B1
23 negative regulation of amyloid precursor protein catabolic process GO:1902992 9.33 MIR29B1 MIR29A MIR107
24 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.1 MIR29B1 MIR29A MIR298 MIR146A MIR107 MIR106B

Molecular functions related to Alzheimer Disease, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.5 MIR34A MIR328 MIR29B1 MIR29A MIR298 MIR146A
2 growth factor receptor binding GO:0070851 9.46 PSEN1 APP
3 mRNA base-pairing translational repressor activity GO:1903231 9.23 MIR34A MIR328 MIR29B1 MIR29A MIR298 MIR146A

Sources for Alzheimer Disease, Familial, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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