MCID: AMY091
MIFTS: 87

Amyotrophic Lateral Sclerosis 1

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 1:

Name: Amyotrophic Lateral Sclerosis 1 53 12 71 13 37 69
Amyotrophic Lateral Sclerosis 53 37 12 72 23 49 24 50 55 71 36 28 51 40 3 41 14 69
Als 12 49 24 55 71 3
Lou Gehrig's Disease 12 72 23 50 3
Amyotrophic Lateral Sclerosis Type 1 12 49 28 14
Lou Gehrig Disease 49 24 55 71
Als1 53 12 49 71
Charcot Disease 24 55 71
Motor Neuron Disease 71 69
Fals 53 71
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant 53
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis, Susceptibility to 53
Amyotrophic Lateral Sclerosis 1, Familial; Fals 53
Amyotrophic Lateral Sclerosis with Dementia 24
Dementia with Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 1, Familial 53
Familial Amyotrophic Lateral Sclerosis 71
Motor Neuron Disease, Bulbar 12
Mnd 71

Characteristics:

Orphanet epidemiological data:

55
amyotrophic lateral sclerosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Adult; Age of death: adult;

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity
approximately 10% of als cases are familial


HPO:

31

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Amyotrophic Lateral Sclerosis 1

NIH Rare Diseases : 49 Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). As the disease progresses, people become weaker and are eventually wheelchair-dependent. Death often results from respiratory failure within 2 to 10 years after the symptoms begin. Most people with ALS have a sporadic (not inherited) form of ALS. It is believed that these cases are caused by an interaction between genetic and environmental factors, meaning that there are people who are genetically predisposed to develop the disease and go on to develop ALS only after coming in contact with an environmental trigger. About 5-10% have a familial (inherited) form of the condition. Familial ALS may be caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. The average age at which symptoms begin is 56 years in the sporadic cases and 46 years in the familial cases. The goal of treatment is to improve the quality of life for people with ALS, by assisting with breathing, nutrition, mobility and communication. Recently, the drug riluzole has been shown to slightly increase the lifespan of people who have ALS. Last updated: 5/9/2017

MalaCards based summary : Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 and motor neuron disease, and has symptoms including fatigue, dyspnea and pain. An important gene associated with Amyotrophic Lateral Sclerosis 1 is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are Amyotrophic lateral sclerosis (ALS) and Neuroscience. The drugs Mexiletine and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone and Limb, and related phenotypes are behavior/neurological and cellular

OMIM : 53 Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD). Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture. (105400)

UniProtKB/Swiss-Prot : 71 Amyotrophic lateral sclerosis: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MedlinePlus : 40 Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. At first, this causes mild muscle problems. Some people notice Trouble walking or running Trouble writing Speech problems Eventually, you lose your strength and cannot move. When muscles in your chest fail, you cannot breathe. A breathing machine can help, but most people with ALS die from respiratory failure. The disease usually strikes between age 40 and 60. More men than women get it. No one knows what causes ALS. It can run in families, but usually it strikes at random. There is no cure. Medicines can relieve symptoms and, sometimes, prolong survival. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 50 Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal disease that affects the nerve cells (neurons) in that brain and spinal cord that  control voluntary muscle movement.  Our voluntary muscles produce movements like walking, breathing, chewing, and talking.  Nerve cells called motor neurons--that connect from the brain and spinal cord to the rest of the body--begin to degenerate and die, and stop sending messages to muscles. The muscles gradually weaken, waste away, and twitch, and the brain can't start and control voluntary movement.  Symptoms are usually first noticed in the arms and hands, legs, or swallowing muscles.  People with ALS lose their strength and become unable to move their arms and legs, and to hold the body upright.  Some individuals eventually can't breathe on their own.  Although ALS doesn't usually impair a person's mind or personality, several recent studies suggest that some people with ALS may develop cognitive problems involving word fluency, decision-making, and memory.  Most cases of ALS happen with no known cause, while a small percentage of cases are inherited.  

Genetics Home Reference : 24 Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.

Disease Ontology : 12 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.

GeneReviews: NBK1450

Related Diseases for Amyotrophic Lateral Sclerosis 1

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22

Diseases related to Amyotrophic Lateral Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 35.4 C9orf72 CHCHD10 FUS SQSTM1 TARDBP UBQLN2
2 motor neuron disease 34.4 C9orf72 CHCHD10 DCTN1 FUS NEFH OPTN
3 frontotemporal dementia 34.0 C9orf72 CHCHD10 FUS HNRNPA1 NEFH PFN1
4 dementia 32.4 C9orf72 CHCHD10 FUS HNRNPA1 SQSTM1 TARDBP
5 lateral sclerosis 32.1 ANG C9orf72 CHCHD10 DCTN1 FIG4 FUS
6 amyotrophic lateral sclerosis 4, juvenile 12.8
7 al amyloidosis 12.2
8 al-gazali-bakalinova syndrome 12.1
9 al-gazali syndrome 12.1
10 al-raqad syndrome 12.1
11 al kaissi syndrome 12.0
12 mousa al din al nassar syndrome 12.0
13 lethal short-limb skeletal dysplasia, al gazali type 11.9
14 lubani-al saleh-teebi syndrome 11.9
15 al gazali aziz salem syndrome 11.9
16 al gazali sabrinathan nair syndrome 11.9
17 al-gazali-donnai-mueller syndrome 11.9
18 teebi naguib al awadi syndrome 11.9
19 al gazali khidr prem chandran syndrome 11.9
20 ulna and fibula, absence of, with severe limb deficiency 11.8
21 multicentric osteolysis, nodulosis, and arthropathy 11.6
22 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.6
23 juvenile amyotrophic lateral sclerosis 11.4
24 amyotrophic lateral sclerosis 2, juvenile 11.3
25 amyotrophic lateral sclerosis, juvenile, with dementia 11.3
26 myeloma, multiple 11.3
27 spinocerebellar ataxia 2 11.3
28 amyotrophic lateral sclerosis 21 11.2 C9orf72 FUS MATR3 OPTN SOD1 TARDBP
29 basal ganglia disease 11.1 C9orf72 CHCHD10 FUS SQSTM1 TARDBP UBQLN2
30 amyotrophic lateral sclerosis type 14 11.1 FUS OPTN TARDBP UBQLN2 VAPB VCP
31 amyotrophic lateral sclerosis 11 11.1 ANG DAO FIG4 FUS OPTN TARDBP
32 amyotrophic lateral sclerosis 7 11.1 ANG DAO FIG4 FUS OPTN TARDBP
33 amyotrophic lateral sclerosis 9 11.1 ANG DAO FIG4 FUS OPTN TARDBP
34 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 11.0 ANG DAO FIG4 FUS OPTN TARDBP
35 amyotrophic lateral sclerosis 18 11.0 C9orf72 FUS PFN1 SOD1 TARDBP
36 nervous system disease 11.0 C9orf72 FUS OPTN SOD1 TARDBP
37 brown-vialetto-van laere syndrome 11.0 C9orf72 SOD1 TARDBP UBQLN2
38 nominal aphasia 11.0 C9orf72 FUS TARDBP VCP
39 behavioral variant of frontotemporal dementia 10.9 C9orf72 SQSTM1 VCP
40 amyotrophic lateral sclerosis type 6 10.9 DAO FUS TARDBP
41 perry syndrome 10.9 C9orf72 DCTN1 TARDBP
42 pick disease of brain 10.9 FUS SQSTM1 TARDBP
43 paget's disease of bone 10.9 OPTN SQSTM1 VCP
44 myopathy 10.8 CHCHD10 HNRNPA1 MATR3 SQSTM1 VCP
45 progressive non-fluent aphasia 10.8 C9orf72 VCP
46 expressive language disorder 10.8 FUS TARDBP
47 inclusion body myositis 10.8 SQSTM1 TARDBP VCP
48 postpoliomyelitis syndrome 10.8 TARDBP VCP
49 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.7 TARDBP VCP
50 lethal congenital contracture syndrome 1 10.7 FUS TARDBP

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 1:



Diseases related to Amyotrophic Lateral Sclerosis 1

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 1

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
spasticity
hyperreflexia
sleep apnea
ocular motility spared
upper and lower neuron manifestations
more
LaboratoryAbnormalities:
reduced cytosolic superoxide dismutase-1 (sod1)

MuscleSoftTissue:
muscle cramps
fasciculations
muscle weakness and atrophy


Clinical features from OMIM:

105400

Human phenotypes related to Amyotrophic Lateral Sclerosis 1:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
2 dyspnea 55 31 frequent (33%) Frequent (79-30%) HP:0002094
3 pain 55 31 frequent (33%) Frequent (79-30%) HP:0012531
4 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
5 agitation 55 31 occasional (7.5%) Occasional (29-5%) HP:0000713
6 generalized muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003324
7 emotional lability 55 31 frequent (33%) Frequent (79-30%) HP:0000712
8 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
9 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
10 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
11 amyotrophic lateral sclerosis 55 31 obligate (100%) Obligate (100%) HP:0007354
12 neurodegeneration 55 31 hallmark (90%) Very frequent (99-80%) HP:0002180
13 xerostomia 55 31 frequent (33%) Frequent (79-30%) HP:0000217
14 respiratory failure 55 31 frequent (33%) Frequent (79-30%) HP:0002878
15 muscle cramps 55 31 frequent (33%) Frequent (79-30%) HP:0003394
16 paralysis 55 31 frequent (33%) Frequent (79-30%) HP:0003470
17 fatigable weakness of swallowing muscles 55 31 frequent (33%) Frequent (79-30%) HP:0030195
18 fatigable weakness of respiratory muscles 55 31 frequent (33%) Frequent (79-30%) HP:0030196
19 laryngeal obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0005945
20 muscle weakness 31 HP:0001324
21 depression 55 Frequent (79-30%)
22 hyperreflexia 31 HP:0001347
23 sleep apnea 31 HP:0010535
24 motor neuron atrophy 55 Very frequent (99-80%)
25 functional respiratory abnormality 55 Frequent (79-30%)
26 fatigable weakness of bulbar muscles 55 Frequent (79-30%)
27 fasciculations 31 HP:0002380
28 degeneration of anterior horn cells 31 HP:0002398
29 pseudobulbar paralysis 31 HP:0007024
30 degeneration of the lateral corticospinal tracts 31 HP:0002314
31 depressivity 31 frequent (33%) HP:0000716

UMLS symptoms related to Amyotrophic Lateral Sclerosis 1:


muscle spasticity, muscle cramp, muscular fasciculation, myoclonus, hemiplegia, ataxia, sleeplessness, vertigo/dizziness, chronic pain, tremor, syncope, seizures, sciatica, pain, headache, back pain

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 TARDBP VAPB VCP C9orf72 DAO DCTN1
2 cellular MP:0005384 9.7 C9orf72 DCTN1 MATR3 NEFH PFN1 PON1
3 nervous system MP:0003631 9.4 C9orf72 DAO DCTN1 FIG4 NEFH PFN1

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 1

Drugs for Amyotrophic Lateral Sclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
2 Anti-Arrhythmia Agents Phase 4,Phase 3
3 Diuretics, Potassium Sparing Phase 4,Phase 3
4 Sodium Channel Blockers Phase 4,Phase 3
5
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
6
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
7
Quinidine Approved, Investigational Phase 3 56-54-2 441074
8
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 5460373 44475014 11953898
9
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
10
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
11
Pramipexole Approved, Investigational Phase 3,Phase 2 104632-26-0 119570 59868
12
Riluzole Approved, Investigational Phase 3,Phase 2 1744-22-5 5070
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15
Zoledronic acid Approved Phase 2, Phase 3 118072-93-8 68740
16
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
17
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
19
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2, Phase 3 13422-55-4
20
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2 56-86-0 33032
21 Antidepressive Agents Phase 2, Phase 3
22 Antimanic Agents Phase 2, Phase 3
23 Central Nervous System Depressants Phase 2, Phase 3
24 Lithium carbonate Phase 2, Phase 3 554-13-2
25 Psychotropic Drugs Phase 2, Phase 3
26 Tranquilizing Agents Phase 2, Phase 3
27 Superoxide Dismutase Phase 2, Phase 3,Phase 1
28 Adrenergic Agents Phase 3
29 Adrenergic alpha-Antagonists Phase 3
30 Adrenergic Antagonists Phase 3
31 Anti-Infective Agents Phase 3,Phase 1,Phase 2
32 Antimalarials Phase 3,Phase 1,Phase 2
33 Antiparasitic Agents Phase 3,Phase 1,Phase 2
34 Antiprotozoal Agents Phase 3,Phase 1,Phase 2
35 Antitussive Agents Phase 3
36 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
37 Cholinergic Agents Phase 3,Phase 2
38 Cholinergic Antagonists Phase 3
39 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
40 Cytochrome P-450 Enzyme Inhibitors Phase 3
41 Excitatory Amino Acid Antagonists Phase 3,Phase 2
42 Excitatory Amino Acids Phase 3,Phase 2
43 Muscarinic Antagonists Phase 3
44 Neurotransmitter Agents Phase 3,Phase 2
45 Quinidine gluconate Phase 3
46 Respiratory System Agents Phase 3,Phase 2
47 Micronutrients Phase 2, Phase 3
48 Trace Elements Phase 2, Phase 3
49 Vitamin B 12 Phase 2, Phase 3
50 Vitamin B Complex Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 51)

# Name Status NCT ID Phase Drugs
1 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
2 Determination and Comparison of Short-term Effectiveness of Three Methods Used for Recognition of Arrhythmias in People With Different Degrees of Medical Training (Advanced Life Support Workshop Participants-ALS): Randomized Controlled Educational Experim Unknown status NCT02664779 Phase 3
3 Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
4 Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
5 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
6 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
7 Study of Myobloc in the Treatment of Sialorrhea (Drooling) in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00125203 Phase 2, Phase 3 Botulinum toxin type B (Myobloc)
8 Zoledronic Acid or Methylprednisolone for Active Charcot's Neuroarthropathy of Foot in Patients With Diabetes Mellitus Recruiting NCT03289338 Phase 2, Phase 3 Zoledronic Acid;Methylprednisolone;Placebos
9 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
10 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3 Dexpramipexole
11 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
12 Study to Investigate the Safety and Efficacy of Lithium in Volunteers With Amyotrophic Lateral Sclerosis (ALS) Terminated NCT00818389 Phase 2, Phase 3 Lithium Carbonate;Riluzole;placebo
13 A Multi-Center Controlled Screening Trial of Safety and Efficacy of Lithium Carbonate in Subjects With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00790582 Phase 2 lithium carbonate
14 SOD1 Inhibition by Pyrimethamine in Familial Amyotrophic Lateral Sclerosis (ALS) Completed NCT01083667 Phase 1, Phase 2 Pyrimethamine
15 Clinical Trial of High Dose CoQ10 in ALS Completed NCT00243932 Phase 2 coenzyme Q10;Placebo
16 High Fat/High Calorie Trial in Amyotrophic Lateral Sclerosis Completed NCT00983983 Phase 2
17 Supported Treadmill Ambulation Training (STAT) for Patients Diagnosed With Amyotrophic Lateral Aclerosis Completed NCT00956488 Phase 1, Phase 2
18 Study Evaluating TCH346 and Placebo Administered Once Daily in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00072709 Phase 2 TCH346
19 Creatine for the Treatment of Amyotrophic Lateral Sclerosis Completed NCT00070993 Phase 2 creatine monohydrate
20 Riluzole Augmentation in Treatment-refractory Obsessive-compulsive Disorder Completed NCT00523718 Phase 2 riluzole;placebo
21 Safety Study of VM202 to Treat Amyotrophic Lateral Sclerosis Completed NCT02039401 Phase 1, Phase 2
22 Clinical Trial of SB-509 in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00748501 Phase 2 SB-509
23 Safety and Efficacy Study of Creatine and Tamoxifen in Volunteers With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01257581 Phase 2 creatine;tamoxifen
24 Open-Label, Safety and Tolerability Extension Study of KNS-760704 in Amyotrophic Lateral Sclerosis (ALS) (CL211) Completed NCT00931944 Phase 2 KNS-760704
25 Safety and Tolerability Study of KNS-760704 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00647296 Phase 2 KNS-760704;KNS-760704;KNS-760704;Placebo
26 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2 Drug: F 18 T807
27 A Trial of Tocilizumab in ALS Subjects Recruiting NCT02469896 Phase 2 Tocilizumab
28 N-Acetylcysteine Augmentation in Treatment-Refractory Obsessive-Compulsive Disorder Terminated NCT00539513 Phase 2 N-Acetylcysteine;placebo
29 Riluzole to Treat Depression in Bipolar Disorder Terminated NCT00054704 Phase 2 Riluzole;Placebo
30 A Multicenter, Double-Blind Study to Investigate the Safety and Efficacy of Arimoclomol in Volunteers With ALS Withdrawn NCT00561366 Phase 2 Placebo;Arimoclomol
31 Far Infrared Irradiation for Control, Management and Treatment of Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00673140 Phase 1
32 Safety, Tolerability, and Activity Study of ISIS SOD1Rx to Treat Familial Amyotrophic Lateral Sclerosis (ALS) Caused by SOD1 Gene Mutations Completed NCT01041222 Phase 1 ISIS 333611
33 Safety/Efficacy Study for the Treatment of Amyotrophic Lateral Sclerosis Suspended NCT01082653 Phase 1
34 Effect of Noninvasive Ventilation on Lung Function in Amyotrophic Lateral Sclerosis Unknown status NCT00537446
35 Study of the Role of G72 in Amyotrophic Lateral Sclerosis: Biomarker Discovery and Mechanism Investigation Unknown status NCT01378026
36 Motor-Point Stimulation for Conditioning the Diaphragm of Patients With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00420719
37 Early Treatment of Amyotrophic Lateral Sclerosis (ALS) With Nutrition and Non-Invasive Positive Pressure Ventilation (NIPPV) Unknown status NCT00116558
38 Cortex Changes in Real/Imagined Movements in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00809224
39 Neurogenic Inflammation in Diabetes Completed NCT01370837
40 Exposure to Neurotoxins as Risk Factors for Amyotrophic Lateral Sclerosis Completed NCT00339976
41 Mechanisms of Mitochondrial Defects in Gulf War Syndrome Completed NCT01264471
42 Exogenous Toxicants and Genetic Susceptibility in ALS Completed NCT00011154
43 A Clinical Demonstration of EEG Brain-computer Interface for ALS Patients Completed NCT00786032
44 Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00677768
45 The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study Recruiting NCT00317616
46 Genetics of Familial and Sporadic ALS Recruiting NCT00821132
47 The National Amyotrophic Lateral Sclerosis Registry Recruiting NCT01772602
48 "New Perspectives of Adaptation to NIV in ALS" Recruiting NCT02537132
49 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
50 NeuroCognitive Communicator: Safety Study Not yet recruiting NCT03100110

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Amyotrophic Lateral Sclerosis 1 cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: amyotrophic lateral sclerosis

Genetic Tests for Amyotrophic Lateral Sclerosis 1

Genetic tests related to Amyotrophic Lateral Sclerosis 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 28 C9orf72 OPTN UBQLN2 VCP
2 Amyotrophic Lateral Sclerosis Type 1 28 DCTN1 NEFH PRPH SOD1

Anatomical Context for Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

38
Spinal Cord, Brain, Skeletal Muscle, Bone, Bone Marrow, Lung, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Amyotrophic Lateral Sclerosis 1:
# Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate
2 Limb Pelvic Girdle Bone Marrow Stromal Cells Potential therapeutic candidate
3 Brain Forebrain White Matter Fibrous Astrocyte Cells Potential therapeutic candidate
4 Spinal Cord Spinal Cord White Matter Fibrous Astrocyte Cells Potential therapeutic candidate
5 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
6 Neural Tube Motor Neural Progenitor Domain Motor Neural Progenitor Cells Potential therapeutic candidate
7 Neural Tube Motor Neural Progenitor Domain Motor Neurons Affected by disease
8 Brain Forebrain White Matter Myelinating Oligodendrocyte Cells Affected by disease
9 Spinal Cord Spinal Cord White Matter Myelinating Oligodendrocyte Cells Affected by disease
10 Spinal Cord Spinal Cord Grey Matter Protoplasmic Astrocyte Cells Potential therapeutic candidate
11 Brain Neocortex Protoplasmic Astrocyte Cells Potential therapeutic candidate
12 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate
13 Spinal Cord Spinal Cord White Matter VA1 Fibrous Astrocyte Cells Potential therapeutic candidate
14 Spinal Cord Spinal Cord White Matter VA2 Fibrous Astrocyte Cells Potential therapeutic candidate
15 Spinal Cord Spinal Cord White Matter VA3 Fibrous Astrocyte Cells Potential therapeutic candidate

Publications for Amyotrophic Lateral Sclerosis 1

Articles related to Amyotrophic Lateral Sclerosis 1:

(show top 50) (show all 2337)
# Title Authors Year
1
Lack of an association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS). ( 29406917 )
2018
2
Amyotrophic Lateral Sclerosis Associated with Statin Use: A Disproportionality Analysis of the FDA's Adverse Event Reporting System. ( 29427042 )
2018
3
Amyotrophic Lateral Sclerosis after Receiving the Human Papilloma Virus Vaccine: A Case Report of a 15-year-old Girl. ( 29434138 )
2018
4
Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling. ( 29431095 )
2018
5
Crush injury to motor nerves in the G93A transgenic mouse model of amyotrophic lateral sclerosis promotes muscle reinnervation and survival of functionally intact nerve-muscle contacts. ( 29409912 )
2018
6
Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease. ( 29293261 )
2018
7
Interleukin 4 modulates microglia homeostasis and attenuates the early slowly progressive phase of amyotrophic lateral sclerosis. ( 29445154 )
2018
8
Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis. ( 29417336 )
2018
9
A Metadata Analysis of Oxidative Stress Etiology in Preclinical Amyotrophic Lateral Sclerosis: Benefits of Antioxidant Therapy. ( 29416499 )
2018
10
Biomarkers of Amyotrophic Lateral Sclerosis: Current Status and Interest of Oxysterols and Phytosterols. ( 29445325 )
2018
11
Therapeutic effects of percutaneous endoscopic gastrostomy on survival in patients with amyotrophic lateral sclerosis: A meta-analysis. ( 29408898 )
2018
12
Using an onset-anchored Bayesian hierarchical model to improve predictions for amyotrophic lateral sclerosis disease progression. ( 29409450 )
2018
13
Transcriptomics in amyotrophic lateral sclerosis. ( 28930607 )
2018
14
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
15
Arginase-1 expressing microglia in close proximity to motor neurons were increased early in disease progression in canine degenerative myelopathy, a model of amyotrophic lateral sclerosis. ( 29408267 )
2018
16
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
17
Motor and extra-motor gray matter integrity may underlie neurophysiologic parameters of motor function in amyotrophic lateral sclerosis: a combined voxel-based morphometry and transcranial stimulation study. ( 29417490 )
2018
18
ERp57 is protective against mutant SOD1-induced cellular pathology in Amyotrophic Lateral Sclerosis. ( 29409023 )
2018
19
Exploring the cause of aggregation and reduced Zn binding affinity by G85R mutation in SOD1 rendering amyotrophic lateral sclerosis. ( 28321933 )
2017
20
Degeneration of serotonin neurons triggers spasticity in amyotrophic lateral sclerosis. ( 28856708 )
2017
21
Hypermetabolism is a deleterious prognostic factor in patients with amyotrophic lateral sclerosis. ( 28940704 )
2017
22
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. ( 28628244 )
2017
23
Supportive care needs of patients with amyotrophic lateral sclerosis/motor neuron disease and their caregivers: AA scoping review. ( 28681543 )
2017
24
Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis. ( 27939697 )
2017
25
Visual encoding, consolidation, and retrieval in amyotrophic lateral sclerosis: executive function as a mediator, and predictor of performance. ( 28084080 )
2017
26
Orofacial function and monitoring of oral care in amyotrophic lateral sclerosis. ( 28079403 )
2017
27
Amyotrophic Lateral Sclerosis: Precise Diagnosis and Individualized Treatment. ( 28937029 )
2017
28
Retinal thinning in amyotrophic lateral sclerosis patients without ophthalmic disease. ( 28945811 )
2017
29
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. ( 27534431 )
2017
30
CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China. ( 28318595 )
2017
31
Therapeutic opportunities and challenges of induced pluripotent stem cells-derived motor neurons for treatment of amyotrophic lateral sclerosis and motor neuron disease. ( 28616022 )
2017
32
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. ( 28008748 )
2017
33
Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy. ( 28477711 )
2017
34
Semantic dementia, progressive non-fluent aphasia and their association with amyotrophic lateral sclerosis. ( 28554960 )
2017
35
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. ( 28716533 )
2017
36
Longitudinal assessment of metal concentrations and copper isotope ratios in the G93A SOD1 mouse model of amyotrophic lateral sclerosis. ( 28067393 )
2017
37
DNA strand breaks and TDP-43 mislocation are absent in the murine hSOD1G93A model of amyotrophic lateral sclerosis in vivo and in vitro. ( 28832631 )
2017
38
Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. ( 27892983 )
2017
39
Region-specific impairment of the cervical spinal cord (SC) in amyotrophic lateral sclerosis: A preliminary study using SC templates and quantitative MRI (diffusion tensor imaging/inhomogeneous magnetization transfer). ( 28926131 )
2017
40
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation. ( 28822984 )
2017
41
Revisiting the concept of amyotrophic lateral sclerosis as a multisystems disorder of limited phenotypic expression. ( 28914734 )
2017
42
Gamma aminobutyric acid (GABA) modulators for amyotrophic lateral sclerosis/motor neuron disease. ( 28067943 )
2017
43
Percutaneous endoscopic gastrostomy, body weight loss and survival in amyotrophic lateral sclerosis: a population-based registry study. ( 28076984 )
2017
44
Enhanced Bulbar Function in Amyotrophic Lateral Sclerosis: The Nuedexta Treatment Trial. ( 28070747 )
2017
45
Early recurrence of Tako-Tsubo cardiomyopathy in an elderly woman with amyotrophic lateral sclerosis: different triggers inducing different apical ballooning patterns. ( 28079765 )
2017
46
Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). ( 28454844 )
2017
47
Terminal latency abnormality in amyotrophic lateral sclerosis without split hand syndrome. ( 28188450 )
2017
48
Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Amyotrophic Lateral Sclerosis in a Patient Developing Carbon Dioxide Narcosis. ( 28381746 )
2017
49
HuR promotes the molecular signature and phenotype of activated microglia: Implications for amyotrophic lateral sclerosis and other neurodegenerative diseases. ( 28300326 )
2017
50
Cysteine to Serine Conversion at 111th Position Renders the Disaggregation and Retains the Stabilization of Detrimental SOD1 A4V Mutant Against Amyotrophic Lateral Sclerosis in Human-A Discrete Molecular Dynamics Study. ( 28952073 )
2017

Variations for Amyotrophic Lateral Sclerosis 1

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 1:

71 (show top 50) (show all 82)
# Symbol AA change Variation ID SNP ID
1 DCTN1 p.Met571Thr VAR_063872 rs121909343
2 DCTN1 p.Arg785Trp VAR_063873 rs121909344
3 DCTN1 p.Arg1101Lys VAR_063874 rs121909345
4 SOD1 p.Ala5Thr VAR_007130 rs121912444
5 SOD1 p.Ala5Val VAR_007131 rs121912442
6 SOD1 p.Val8Glu VAR_007132
7 SOD1 p.Val15Met VAR_007133
8 SOD1 p.Gly17Ser VAR_007134 rs121912453
9 SOD1 p.Glu22Lys VAR_007135 rs121912450
10 SOD1 p.Gly38Arg VAR_007136 rs121912431
11 SOD1 p.Leu39Val VAR_007137 rs121912432
12 SOD1 p.Gly42Ser VAR_007138 rs121912433
13 SOD1 p.Gly42Asp VAR_007139 rs121912434
14 SOD1 p.His44Arg VAR_007140 rs121912435
15 SOD1 p.His47Arg VAR_007141 rs121912443
16 SOD1 p.His49Gln VAR_007142
17 SOD1 p.Leu85Val VAR_007143 rs121912452
18 SOD1 p.Gly86Arg VAR_007144 rs121912436
19 SOD1 p.Asp91Ala VAR_007145 rs80265967
20 SOD1 p.Gly94Ala VAR_007146 rs121912438
21 SOD1 p.Gly94Cys VAR_007147 rs121912437
22 SOD1 p.Gly94Asp VAR_007148
23 SOD1 p.Gly94Arg VAR_007149 rs121912437
24 SOD1 p.Glu101Gly VAR_007150 rs121912439
25 SOD1 p.Asp102Gly VAR_007151
26 SOD1 p.Asp102Asn VAR_007152
27 SOD1 p.Leu107Val VAR_007153 rs121912440
28 SOD1 p.Ile113Thr VAR_007154 rs74315452
29 SOD1 p.Ile114Thr VAR_007155 rs121912441
30 SOD1 p.Arg116Gly VAR_007156
31 SOD1 p.Asp126His VAR_007157
32 SOD1 p.Ser135Asn VAR_007158 rs121912451
33 SOD1 p.Asn140Lys VAR_007159
34 SOD1 p.Leu145Phe VAR_007160
35 SOD1 p.Val149Gly VAR_007161
36 SOD1 p.Val149Ile VAR_007162 rs567511139
37 SOD1 p.Ile150Thr VAR_007163
38 SOD1 p.Ile152Thr VAR_007164 rs121912449
39 SOD1 p.Cys7Phe VAR_008717 rs121912448
40 SOD1 p.Gly73Ser VAR_008718 rs121912455
41 SOD1 p.Gly94Val VAR_008719
42 SOD1 p.Ile105Phe VAR_008720 rs121912445
43 SOD1 p.Asp125Val VAR_008722
44 SOD1 p.Leu145Ser VAR_008724 rs121912446
45 SOD1 p.Ala146Thr VAR_008725 rs121912447
46 SOD1 p.Ala5Ser VAR_013518
47 SOD1 p.Leu9Gln VAR_013519
48 SOD1 p.Leu9Val VAR_013520
49 SOD1 p.Gly13Arg VAR_013521 rs121912456
50 SOD1 p.Val15Gly VAR_013522

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 1:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh37 Chromosome 2, 74588717: 74588717
2 SOD1 SOD1, 6-BP DEL, GGACCA deletion Pathogenic
3 SOD1 SOD1, IVS4AS, C-G, -304 single nucleotide variant Pathogenic
4 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh37 Chromosome 21, 33036142: 33036142
5 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 GRCh37 Chromosome 21, 33036145: 33036145
6 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 GRCh37 Chromosome 21, 33036154: 33036154
7 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 GRCh37 Chromosome 21, 33036155: 33036155
8 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 GRCh37 Chromosome 21, 33036161: 33036161
9 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 GRCh37 Chromosome 21, 33039650: 33039650
10 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 GRCh37 Chromosome 21, 33039587: 33039587
11 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
12 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 GRCh37 Chromosome 21, 33039612: 33039612
13 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh37 Chromosome 21, 33039633: 33039633
14 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 GRCh37 Chromosome 21, 33039669: 33039669
15 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 GRCh37 Chromosome 21, 33032096: 33032096
16 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 GRCh37 Chromosome 21, 33036170: 33036170
17 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 GRCh37 Chromosome 21, 33032095: 33032095
18 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 GRCh37 Chromosome 21, 33040860: 33040860
19 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 GRCh37 Chromosome 21, 33040862: 33040862
20 SOD1 SOD1, IVS4AS, T-G, -10 single nucleotide variant Pathogenic
21 SOD1 NM_000454.4(SOD1): c.20G> T (p.Cys7Phe) single nucleotide variant Pathogenic rs121912448 GRCh37 Chromosome 21, 33032102: 33032102
22 SOD1 NM_000454.4(SOD1): c.455T> C (p.Ile152Thr) single nucleotide variant Pathogenic rs121912449 GRCh37 Chromosome 21, 33040881: 33040881
23 SOD1 NM_000454.4(SOD1): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic rs121912450 GRCh37 Chromosome 21, 33032146: 33032146
24 SOD1 NM_000454.4(SOD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs121912451 GRCh37 Chromosome 21, 33040830: 33040830
25 SOD1 NM_000454.4(SOD1): c.253T> G (p.Leu85Val) single nucleotide variant Pathogenic rs121912452 GRCh37 Chromosome 21, 33039584: 33039584
26 SOD1 NM_000454.4(SOD1): c.49G> A (p.Gly17Ser) single nucleotide variant Pathogenic rs121912453 GRCh37 Chromosome 21, 33032131: 33032131
27 SOD1 NM_000454.4(SOD1): c.380T> A (p.Leu127Ter) single nucleotide variant Pathogenic rs121912454 GRCh37 Chromosome 21, 33040806: 33040806
28 SOD1 SOD1, IVS4AS, A-G, -11 single nucleotide variant Pathogenic
29 SOD1 NM_000454.4(SOD1): c.217G> A (p.Gly73Ser) single nucleotide variant Pathogenic rs121912455 GRCh37 Chromosome 21, 33038809: 33038809
30 SOD1 NM_000454.4(SOD1): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic rs121912456 GRCh37 Chromosome 21, 33032119: 33032119
31 SOD1 NM_000454.4(SOD1): c.137T> G (p.Phe46Cys) single nucleotide variant Pathogenic rs121912457 GRCh37 Chromosome 21, 33036167: 33036167
32 SOD1 NM_000454.4(SOD1): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121912458 GRCh37 Chromosome 21, 33039573: 33039573
33 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
34 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672
35 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh37 Chromosome 1, 11082509: 11082509
36 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant Pathogenic rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
37 SOD1 NM_000454.4(SOD1): c.260A> G (p.Asn87Ser) single nucleotide variant Likely pathogenic rs11556620 GRCh38 Chromosome 21, 31667278: 31667278

Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:

7 (show top 50) (show all 271)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13850 1 10015602 10163883 Deletion UBE4B Amyotrophic lateral sclerosis
2 38070 1 9912362 9925413 Deletion LZIC Amyotrophic lateral sclerosis
3 38081 1 9926072 9968143 Deletion NMNAT1 Amyotrophic lateral sclerosis
4 38110 1 9979860 9998665 Deletion RBP7 Amyotrophic lateral sclerosis
5 38787 10 105052542 105100881 Duplication PCGF6 Amyotrophic lateral sclerosis
6 38794 10 105117713 105138812 Deletion,duplication TAF5 Amyotrophic lateral sclerosis
7 38801 10 105138803 105146213 Deletion,duplication USMG5 Amyotrophic lateral sclerosis
8 38806 10 105146401 105196009 Deletion,duplication PDCD11 Amyotrophic lateral sclerosis
9 38819 10 105196536 105202065 Deletion,duplication CALHM2 Amyotrophic lateral sclerosis
10 38825 10 105222550 105228987 Deletion,duplication CALHM3 Amyotrophic lateral sclerosis
11 38829 10 105244037 105342293 Duplication NEURL Amyotrophic lateral sclerosis
12 38887 10 105717459 105777332 Deletion SLK Amyotrophic lateral sclerosis
13 38957 10 106390848 107014983 Duplication SORCS3 Amyotrophic lateral sclerosis
14 39675 10 11824361 11846071 Duplication ECHDC3 Amyotrophic lateral sclerosis
15 41384 10 17311303 17319598 Deletion VIM Amyotrophic lateral sclerosis
16 41389 10 17402681 17536260 Deletion ST8SIA6 Amyotrophic lateral sclerosis
17 44175 10 53125251 53129361 Duplication CSTF2T Amyotrophic lateral sclerosis
18 46555 10 82021555 82039414 Duplication MAT1A Amyotrophic lateral sclerosis
19 46560 10 82085841 82106480 Duplication DYDC1 Amyotrophic lateral sclerosis
20 46567 10 82106537 82117809 Duplication DYDC2 Amyotrophic lateral sclerosis
21 46573 10 82158221 82182733 Duplication C10orf58 Amyotrophic lateral sclerosis
22 46577 10 82204017 82272371 Duplication TSPAN14 Amyotrophic lateral sclerosis
23 47201 10 90414073 90428552 Duplication LIPF Amyotrophic lateral sclerosis
24 47210 10 90474280 90502493 Duplication LIPK Amyotrophic lateral sclerosis
25 47701 10 96786518 96819244 Duplication CYP2C8 Amyotrophic lateral sclerosis
26 47721 10 96943946 96978675 Duplication C10orf129 Amyotrophic lateral sclerosis
27 47727 10 96987319 97040771 Duplication PDLIM1 Amyotrophic lateral sclerosis
28 51047 11 122214464 122248557 Duplication CRTAM Amyotrophic lateral sclerosis
29 51746 11 130250975 130291592 Duplication SNX19 Amyotrophic lateral sclerosis
30 52817 11 20342262 20345776 Duplication HTATIP2 Amyotrophic lateral sclerosis
31 52820 11 20365678 20487349 Duplication PRMT3 Amyotrophic lateral sclerosis
32 53960 11 35409951 35503752 Deletion DKFZP586H2123 Amyotrophic lateral sclerosis
33 54765 11 47247774 47308158 Deletion MADD Amyotrophic lateral sclerosis
34 58676 11 69165053 69178423 Duplication CCND1 Amyotrophic lateral sclerosis
35 61192 11 95763461 95766375 Duplication JRKL Amyotrophic lateral sclerosis
36 62870 12 112079360 112107667 Deletion DDX54 Amyotrophic lateral sclerosis
37 62876 12 112107937 112114502 Deletion C12orf52 Amyotrophic lateral sclerosis
38 62877 12 112117628 112143263 Deletion IQCD Amyotrophic lateral sclerosis
39 62881 12 112143651 112218317 Deletion TPCN1 Amyotrophic lateral sclerosis
40 63147 12 114880763 115199526 Deletion MED13L Amyotrophic lateral sclerosis
41 63427 12 118607980 118799475 Duplication CIT Amyotrophic lateral sclerosis
42 63663 12 120055060 120108241 Duplication P2RX7 Amyotrophic lateral sclerosis
43 65019 12 14656842 14740696 Deletion GUCY2C Amyotrophic lateral sclerosis
44 65031 12 14814920 14815332 Deletion HIST4H4 Amyotrophic lateral sclerosis
45 65033 12 14818536 14822203 Deletion H2AFJ Amyotrophic lateral sclerosis
46 65036 12 14830678 14847668 Deletion WBP11 Amyotrophic lateral sclerosis
47 65317 12 15664341 15833601 Deletion EPS8 Amyotrophic lateral sclerosis
48 65332 12 15926554 15947677 Deletion Strap Amyotrophic lateral sclerosis
49 65337 12 15955452 16081582 Deletion DERA Amyotrophic lateral sclerosis
50 65486 12 18125069 18134381 Duplication RERGL Amyotrophic lateral sclerosis

Expression for Amyotrophic Lateral Sclerosis 1

LifeMap Discovery
Genes differentially expressed in tissues of Amyotrophic Lateral Sclerosis 1 patients vs. healthy controls: 35 (show all 14)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ACTN3 actinin, alpha 3 (gene/pseudogene) Skeletal Muscle - 5.49 0.000
2 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal Skeletal Muscle + 3.89 0.000
3 PRUNE2 prune homolog 2 (Drosophila) Skeletal Muscle + 3.83 0.001
4 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) Skeletal Muscle + 3.82 0.000
5 COL19A1 collagen, type XIX, alpha 1 Skeletal Muscle + 3.77 0.000
6 LRRK2 leucine-rich repeat kinase 2 Skeletal Muscle + 3.67 0.001
7 FST follistatin Skeletal Muscle + 3.47 0.001
8 CERKL ceramide kinase-like Skeletal Muscle + 3.46 0.000
9 RMDN2 regulator of microtubule dynamics 2 Skeletal Muscle + 3.44 0.005
10 MYLK2 myosin light chain kinase 2 Skeletal Muscle - 3.27 0.009
11 MUSK muscle, skeletal, receptor tyrosine kinase Skeletal Muscle + 3.22 0.001
12 HOXC10 homeobox C10 Skeletal Muscle - 3.22 0.000
13 SESN3 sestrin 3 Skeletal Muscle + 3.19 0.007
14 CPNE8 copine VIII Skeletal Muscle + 3.06 0.001
Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 1.

Pathways for Amyotrophic Lateral Sclerosis 1

Pathways related to Amyotrophic Lateral Sclerosis 1 according to KEGG:

36
# Name Kegg Source Accession
1 Amyotrophic lateral sclerosis (ALS) hsa05014

Pathways related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.55 DCTN1 NEFH OPTN SOD1 TARDBP
2
Show member pathways
11.49 NEFH PRPH SOD1
3
Show member pathways
11.37 DCTN1 NEFH PRPH
4 10.96 NEFH PFN1 SOD1

GO Terms for Amyotrophic Lateral Sclerosis 1

Cellular components related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.43 ANG C9orf72 OPTN SOD1 SQSTM1 UBQLN2
2 autophagosome GO:0005776 8.92 C9orf72 OPTN SQSTM1 UBQLN2
3 nucleus GO:0005634 10 ANG C9orf72 CHCHD10 DCTN1 FUS HNRNPA1

Biological processes related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of autophagosome assembly GO:2000785 9.26 C9orf72 UBQLN2
2 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.16 OPTN SQSTM1
3 autophagy GO:0006914 9.02 C9orf72 OPTN SQSTM1 UBQLN2 VCP
4 neurofilament cytoskeleton organization GO:0060052 8.96 NEFH SOD1

Molecular functions related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ANG C9orf72 DAO DCTN1 FIG4 FUS
2 miRNA binding GO:0035198 9.37 HNRNPA1 MATR3
3 dynein complex binding GO:0070840 9.32 DCTN1 NEFH
4 polyubiquitin modification-dependent protein binding GO:0031593 9.26 OPTN VCP
5 identical protein binding GO:0042802 9.17 FUS MATR3 OPTN SOD1 SQSTM1 TARDBP
6 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.16 OPTN SQSTM1

Sources for Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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