ALS
MCID: AMY091
MIFTS: 89

Amyotrophic Lateral Sclerosis 1 (ALS)

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 57 12 75 13 38 73
Amyotrophic Lateral Sclerosis 57 38 12 76 24 53 25 59 75 37 29 55 6 43 3 44 15 73
Als 12 53 25 59 75 3
Amyotrophic Lateral Sclerosis Type 1 12 53 29 6 15
Lou Gehrig's Disease 12 76 24 54 3
Lou Gehrig Disease 53 25 59 75
Charcot Disease 53 25 59 75
Als1 57 12 53 75
Amyotrophic Lateral Sclerosis, Susceptibility to 57 6
Motor Neuron Disease 75 73
Fals 57 75
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant 57
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 25
Amyotrophic Lateral Sclerosis 1, Familial; Fals 57
Amyotrophic Lateral Sclerosis with Dementia 25
Dementia with Amyotrophic Lateral Sclerosis 25
Amyotrophic Lateral Sclerosis 1, Familial 57
Sclerosis, Lateral, Amyotrophic, Type 1 40
Familial Amyotrophic Lateral Sclerosis 75
Sclerosis, Lateral, Amyotrophic 40
Motor Neuron Disease, Bulbar 12
Mnd 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Amyotrophic Lateral Sclerosis 1

NIH Rare Diseases : 53 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 10% of the people with ALS have at least one relative with the disease and are said to have have a familial (inherited) form of the condition (FALS). 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.

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 back pain, headache 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 Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include Bone and Limb, and related phenotypes are emotional lability and depressivity

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.

Genetics Home Reference : 25 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.

OMIM : 57 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)

MedlinePlus : 43 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 : 54 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.  

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND), and Lou Gehrig\'s... more...

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 24
Amyotrophic Lateral Sclerosis 25 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
Tardbp-Related Amyotrophic Lateral Sclerosis

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 36.5 C9orf72 CHCHD10 FUS SQSTM1 TARDBP UBQLN2
2 motor neuron disease 35.6 C9orf72 CHCHD10 DCTN1 FUS NEFH OPTN
3 frontotemporal dementia 35.1 C9orf72 CHCHD10 FUS HNRNPA1 NEFH PFN1
4 lateral sclerosis 33.5 ANG C9orf72 CHCHD10 DCTN1 FIG4 FUS
5 al amyloidosis 12.2
6 al-gazali-bakalinova syndrome 12.1
7 al-gazali syndrome 12.1
8 al-raqad syndrome 12.1
9 al kaissi syndrome 12.0
10 mousa al din al nassar syndrome 12.0
11 lethal short-limb skeletal dysplasia, al gazali type 11.9
12 lubani-al saleh-teebi syndrome 11.9
13 al gazali aziz salem syndrome 11.9
14 al gazali sabrinathan nair syndrome 11.9
15 teebi naguib al awadi syndrome 11.9
16 amyotrophic lateral sclerosis 21 11.9 C9orf72 FUS MATR3 OPTN SOD1 TARDBP
17 al gazali khidr prem chandran syndrome 11.9
18 al-gazali-donnai-mueller syndrome 11.9
19 dementia 11.8 C9orf72 CHCHD10 FUS HNRNPA1 SQSTM1 TARDBP
20 ulna and fibula, absence of, with severe limb deficiency 11.8
21 amyotrophic lateral sclerosis type 14 11.7 FUS OPTN TARDBP UBQLN2 VAPB VCP
22 amyotrophic lateral sclerosis 11 11.7 ANG DAO FIG4 FUS OPTN TARDBP
23 amyotrophic lateral sclerosis 7 11.7 ANG DAO FIG4 FUS OPTN TARDBP
24 amyotrophic lateral sclerosis 9 11.7 ANG DAO FIG4 FUS OPTN TARDBP
25 basal ganglia disease 11.7 C9orf72 CHCHD10 FUS TARDBP UBQLN2 VCP
26 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 11.7 ANG DAO FIG4 FUS OPTN TARDBP
27 amyotrophic lateral sclerosis 18 11.6 C9orf72 FUS PFN1 SOD1 TARDBP
28 nervous system disease 11.6 C9orf72 FUS OPTN SOD1 TARDBP
29 multicentric osteolysis, nodulosis, and arthropathy 11.6
30 brown-vialetto-van laere syndrome 11.6 C9orf72 SOD1 TARDBP UBQLN2
31 nominal aphasia 11.6 C9orf72 FUS TARDBP VCP
32 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.5
33 central nervous system disease 11.5 C9orf72 FUS SOD1 TARDBP
34 behavioral variant of frontotemporal dementia 11.5 C9orf72 SQSTM1 VCP
35 amyotrophic lateral sclerosis type 6 11.5 DAO FUS TARDBP
36 perry syndrome 11.5 C9orf72 DCTN1 TARDBP
37 pick disease of brain 11.4 FUS SQSTM1 TARDBP
38 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.4
39 inclusion body myositis 11.4 SQSTM1 TARDBP VCP
40 paget's disease of bone 11.4 OPTN SQSTM1 VCP
41 amyotrophic lateral sclerosis 24 11.4
42 amyotrophic lateral sclerosis 25 11.4
43 speech and communication disorders 11.4 C9orf72 FUS TARDBP
44 progressive non-fluent aphasia 11.3 C9orf72 VCP
45 amyotrophic lateral sclerosis, juvenile, with dementia 11.3
46 expressive language disorder 11.3 FUS TARDBP
47 myopathy 11.3 CHCHD10 HNRNPA1 MATR3 SQSTM1 VCP
48 myeloma, multiple 11.3
49 postpoliomyelitis syndrome 11.3 TARDBP VCP
50 spinocerebellar ataxia 2 11.3

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:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
sleep apnea
ocular motility spared
upper and lower neuron manifestations
more
Laboratory Abnormalities:
reduced cytosolic superoxide dismutase-1 (sod1)

Muscle Soft Tissue:
muscle cramps
fasciculations
muscle weakness and atrophy


Clinical features from OMIM:

105400

Human phenotypes related to Amyotrophic Lateral Sclerosis 1:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
4 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
5 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
6 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
7 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
8 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
9 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
10 amyotrophic lateral sclerosis 59 32 obligate (100%) Obligate (100%) HP:0007354
11 neurodegeneration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002180
12 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
13 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
14 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
15 paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0003470
16 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
17 fatigable weakness of swallowing muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030195
18 fatigable weakness of respiratory muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030196
19 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
20 laryngeal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005945
21 muscle weakness 32 HP:0001324
22 hyperreflexia 32 HP:0001347
23 sleep apnea 32 HP:0010535
24 motor neuron atrophy 59 Very frequent (99-80%)
25 functional respiratory abnormality 59 Frequent (79-30%)
26 fatigable weakness of bulbar muscles 59 Frequent (79-30%)
27 fasciculations 32 HP:0002380
28 degeneration of the lateral corticospinal tracts 32 HP:0002314
29 pseudobulbar paralysis 32 HP:0007024
30 degeneration of anterior horn cells 32 HP:0002398

UMLS symptoms related to Amyotrophic Lateral Sclerosis 1:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.15 DCTN1
2 Decreased viability GR00221-A-2 10.15 SOD1
3 Decreased viability GR00221-A-3 10.15 SOD1
4 Decreased viability GR00221-A-4 10.15 SOD1 FUS
5 Decreased viability GR00231-A 10.15 SQSTM1
6 Decreased viability GR00240-S-1 10.15 PON1
7 Decreased viability GR00381-A-1 10.15 SQSTM1 ANG VCP FIG4
8 Decreased viability GR00402-S-2 10.15 PON1 PRPH SOD1 SQSTM1 TARDBP UBQLN2
9 no effect GR00402-S-1 9.62 MATR3 NEFH OPTN PFN1 PON1 PRPH

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 C9orf72 DAO DCTN1 FIG4 NEFH PFN1
2 cellular MP:0005384 9.73 C9orf72 CHCHD10 DCTN1 MATR3 NEFH PFN1
3 nervous system MP:0003631 9.4 SQSTM1 TARDBP VAPB VCP C9orf72 DAO

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 304)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1744-22-5 5070
2
Mexiletine Approved, Investigational Phase 4,Phase 2 31828-71-4 4178
3
Armodafinil Approved, Investigational Phase 4 112111-43-0
4
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
5 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
6 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
11 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
13 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
14 Central Nervous System Stimulants Phase 4,Phase 1
15 Cytochrome P-450 CYP3A Inducers Phase 4
16 Wakefulness-Promoting Agents Phase 4
17
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
18
Iron Approved Phase 2, Phase 3,Not Applicable 7439-89-6 23925
19
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5360696 5362449
20
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2 93-14-1 3516
21
Quinidine Approved, Investigational Phase 3,Phase 2 56-54-2 441074
22
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 44475014
23
Acetylcholine Approved Phase 2, Phase 3,Phase 3,Not Applicable 51-84-3 187
24
Antipyrine Approved, Investigational Phase 3,Phase 1,Phase 2 60-80-0 2206
25
Dopamine Approved Phase 2, Phase 3,Phase 3,Phase 1 51-61-6, 62-31-7 681
26
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
27
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
28
Zinc Approved, Investigational Phase 3,Phase 1,Phase 2 7440-66-6 23994
29
Pramipexole Approved, Investigational Phase 3,Phase 2,Phase 1 104632-26-0 59868 119570
30
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
31
Valproic Acid Approved, Investigational Phase 3,Phase 2 99-66-1 3121
32
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
33
Citalopram Approved Phase 3 59729-33-8 2771
34
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
36
Deferiprone Approved Phase 2, Phase 3,Not Applicable 30652-11-0 2972
37
Zoledronic acid Approved Phase 2, Phase 3 118072-93-8 68740
38
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2 57-00-1 586
39
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
40
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
42
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 13422-55-4
43
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
44
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
45
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 56-86-0 33032
46 Antiemetics Phase 2, Phase 3,Phase 3
47 Antipsychotic Agents Phase 2, Phase 3,Phase 3
48 Autonomic Agents Phase 2, Phase 3,Phase 3,Phase 1
49 Central Nervous System Depressants Phase 2, Phase 3,Phase 3,Phase 1
50 Gastrointestinal Agents Phase 2, Phase 3,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 467)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
2 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
3 CARE Canadian ALS Riluzole Evaluation Completed NCT00542412 Phase 4 Riluzole
4 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
5 Modafinil for Treatment of Fatigue in ALS Patients Completed NCT00614926 Phase 4 Modafinil;Placebo
6 MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study Active, not recruiting NCT03226119 Phase 4
7 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
8 Olanzapine for the Treatment of Appetite Loss in Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3 Olanzapine
9 Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3 Creatine Monohydrate
10 Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
11 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
12 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
13 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
14 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)
15 The Objective is to Compare the Efficacy and Safety of Masitinib in Combination With Riluzole in the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT02588677 Phase 2, Phase 3 Masitinib (AB1010);Riluzole;Placebo
16 Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis Completed NCT01492686 Phase 3 MCI-186;Placebo;MCI-186 in open label phase
17 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
18 Memantine for Disability in Amyotrophic Lateral Sclerosis (MEDALS) Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
19 Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00424463 Phase 3 MCI-186;Placebo of MCI-186
20 The Effect of GCSF in the Treatment of ALS Patients Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
21 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
22 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
23 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III Completed NCT00415519 Phase 3 MCI-186;Placebo of MCI-186
24 Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT00868166 Phase 2, Phase 3 Olesoxime;Placebo Comparator
25 Phase 3 Study of Dexpramipexole in ALS Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
26 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
27 Repetitive Transcranial Magnetic Stimulation (rTMS) in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
28 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
29 Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls Completed NCT01160263 Phase 3 SPECT : 123 I-FP-CIT (DATSCAN) and 123I-ADAM
30 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
31 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3 Sodium Valproate
32 Clinical Trial Ceftriaxone in Subjects With ALS Completed NCT00349622 Phase 3 ceftriaxone
33 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Completed NCT02496767 Phase 3 tirasemtiv;Placebo tablets
34 Safety Extension Study of TRO19622 in ALS Completed NCT01285583 Phase 2, Phase 3 TRO19622
35 Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS Completed NCT00021697 Phase 3 AVP-923
36 Escitalopram (Lexapro) for Depression MS or ALS Completed NCT00965497 Phase 3 escitalopram
37 Safety and Efficacy on Spasticity Symptoms of a Cannabis Sativa Extract in Motor Neuron Disease Completed NCT01776970 Phase 2, Phase 3 Cannabis Sativa extract Oromucosal spray
38 Efficacy and Safety Study of MYOBLOC® Followed by Open-Label Multiple-Treatment With MYOBLOC® in the Treatment of Troublesome Sialorrhea in Adult Subjects Completed NCT01994109 Phase 3 MYOBLOC
39 Clinical Trial of Ultra-high Dose Methylcobalamin for ALS Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
40 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
41 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
42 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
43 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
44 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Active, not recruiting NCT02936635 Phase 3 tirasemtiv
45 Efficacy of Riluzole in Surgical Treatment for Cervical Spondylotic Myelopathy (CSM-Protect) Active, not recruiting NCT01257828 Phase 3 riluzole;Placebo medication
46 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
47 Phase 3 Study to Compare the Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients Not yet recruiting NCT03127267 Phase 3 Masitinib Mesylate;Riluzole 50Mg Tablet;Placebo Oral Tablet
48 Arimoclomol in Amyotropic Lateral Sclerosis Not yet recruiting NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
49 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Not yet recruiting NCT03347344 Phase 3 Riluzole;Placebo
50 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3 Dexpramipexole

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 C9orf72 OPTN UBQLN2 VCP
2 Amyotrophic Lateral Sclerosis Type 1 29 DCTN1 NEFH PRPH SOD1

Anatomical Context for Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

41
Spinal Cord, Brain, Bone, Skeletal Muscle, Bone Marrow, Testes, 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 2508)
# Title Authors Year
1
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
2
Amyotrophic Lateral Sclerosis Associated with Statin Use: A Disproportionality Analysis of the FDA's Adverse Event Reporting System. ( 29427042 )
2018
3
Successful Management of Acquired Tracheomalacia of Patients With Amyotrophic Lateral Sclerosis: A Report of Three Cases. ( 29765893 )
2018
4
Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study. ( 29939990 )
2018
5
Therapeutic effects of percutaneous endoscopic gastrostomy on survival in patients with amyotrophic lateral sclerosis: A meta-analysis. ( 29408898 )
2018
6
EFFECT OF WEDELOLACTONE AND GALLIC ACID ON QUINOLINIC ACID-INDUCED NEUROTOXICITY AND IMPAIRED MOTOR FUNCTION: SIGNIFICANCE TO SPORADIC AMYOTROPHIC LATERAL SCLEROSIS. ( 29981346 )
2018
7
Independent home use of a brain-computer interface by people with amyotrophic lateral sclerosis. ( 29950436 )
2018
8
Impact of expiratory strength training in amyotrophic lateral sclerosis: Results of a randomized sham controlled trial. ( 29981250 )
2018
9
Lipid Metabolism and Survival Across the Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum: Relationships to Eating Behavior and Cognition. ( 29254092 )
2018
10
A Metadata Analysis of Oxidative Stress Etiology in Preclinical Amyotrophic Lateral Sclerosis: Benefits of Antioxidant Therapy. ( 29416499 )
2018
11
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
12
Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis. ( 29941342 )
2018
13
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
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
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. ( 29942091 )
2018
16
A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial. ( 29716660 )
2018
17
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
18
Amyotrophic Lateral Sclerosis after Receiving the Human Papilloma Virus Vaccine: A Case Report of a 15-year-old Girl. ( 29434138 )
2018
19
Pseudobulbar Affect Correlates With Mood Symptoms in Parkinsonian Disorders but Not Amyotrophic Lateral Sclerosis. ( 29505320 )
2018
20
Radial diffusivity as an imaging biomarker for early diagnosis of non-demented amyotrophic lateral sclerosis. ( 29948064 )
2018
21
Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population. ( 29128630 )
2018
22
No Benefit of Diaphragm Pacing in Upper Motor Neuron Dominant Forms of Amyotrophic Lateral Sclerosis. ( 29957023 )
2018
23
Thoracoabdominal asynchrony and paradoxical motion in middle stage amyotrophic lateral sclerosis. ( 29969705 )
2018
24
Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis. ( 29349657 )
2018
25
Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis. ( 29417336 )
2018
26
Primary lateral sclerosis and the amyotrophic lateral sclerosis-frontotemporal dementia spectrum. ( 29868980 )
2018
27
Sharing and Empathy in Digital Spaces: Qualitative Study of Online Health Forums for Breast Cancer and Motor Neuron Disease (Amyotrophic Lateral Sclerosis). ( 29903695 )
2018
28
Comparison of optical coherence tomography findings and visual field changes in patients with primary open-angle glaucoma and amyotrophic lateral sclerosis. ( 29169899 )
2018
29
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
30
Association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS). ( 29961556 )
2018
31
ERp57 is protective against mutant SOD1-induced cellular pathology in Amyotrophic Lateral Sclerosis. ( 29409023 )
2018
32
Using an onset-anchored Bayesian hierarchical model to improve predictions for amyotrophic lateral sclerosis disease progression. ( 29409450 )
2018
33
TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis. ( 29954341 )
2018
34
Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease. ( 29293261 )
2018
35
Amyotrophic Lateral Sclerosis Model. ( 29951816 )
2018
36
Transcriptomics in amyotrophic lateral sclerosis. ( 28930607 )
2018
37
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. ( 29955173 )
2018
38
Biomarkers of Amyotrophic Lateral Sclerosis: Current Status and Interest of Oxysterols and Phytosterols. ( 29445325 )
2018
39
Cortical Thinning Pattern of Bulbar- and Spinal-onset Amyotrophic Lateral Sclerosis: a Surface-based Morphometry Study. ( 29976279 )
2018
40
Clinical Staging of Amyotrophic Lateral Sclerosis in Chinese Patients. ( 29971035 )
2018
41
Interleukin 4 modulates microglia homeostasis and attenuates the early slowly progressive phase of amyotrophic lateral sclerosis. ( 29445154 )
2018
42
Study of occupation and amyotrophic lateral sclerosis in a Danish cohort. ( 29941657 )
2018
43
The Primitive Palmomental Reflex in Amyotrophic Lateral Sclerosis. ( 29566377 )
2018
44
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
45
Production of verbs related to body movement in amyotrophic lateral sclerosis (ALS) and Parkinson's Disease (PD). ( 28969902 )
2018
46
Association between attention-deficit/hyperactivity disorder and amyotrophic lateral sclerosis. ( 29958655 )
2018
47
How is edaravone effective against acute ischemic stroke and amyotrophic lateral sclerosis? ( 29371752 )
2018
48
Caregiver experience, health-related quality of life and life satisfaction among informal caregivers to patients with amyotrophic lateral sclerosis: a cross-sectional study. ( 29964322 )
2018
49
Unraveling the Complexity of Amyotrophic Lateral Sclerosis Survival Prediction. ( 29962944 )
2018
50
Lack of an association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS). ( 29406917 )
2018

Variations for Amyotrophic Lateral Sclerosis 1

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

75 (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 top 50) (show all 281)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh37 Chromosome 2, 74605231: 74605231
2 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh38 Chromosome 2, 74378104: 74378104
3 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh37 Chromosome 2, 74588717: 74588717
4 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh38 Chromosome 2, 74361590: 74361590
5 DCTN1 NM_004082.4(DCTN1): c.1712T> C (p.Met571Thr) single nucleotide variant risk factor rs121909343 GRCh37 Chromosome 2, 74595997: 74595997
6 DCTN1 NM_004082.4(DCTN1): c.1712T> C (p.Met571Thr) single nucleotide variant risk factor rs121909343 GRCh38 Chromosome 2, 74368870: 74368870
7 DCTN1 NM_004082.4(DCTN1): c.3302G> A (p.Arg1101Lys) single nucleotide variant risk factor rs121909345 GRCh37 Chromosome 2, 74590464: 74590464
8 DCTN1 NM_004082.4(DCTN1): c.3302G> A (p.Arg1101Lys) single nucleotide variant risk factor rs121909345 GRCh38 Chromosome 2, 74363337: 74363337
9 PRPH PRPH, 1-BP DEL, 228C deletion risk factor
10 NEFH NM_021076.3(NEFH): c.2057_2098del42 (p.Ala686_Lys699del) deletion risk factor rs606231212 GRCh37 Chromosome 22, 29885686: 29885727
11 NEFH NM_021076.3(NEFH): c.2057_2098del42 (p.Ala686_Lys699del) deletion risk factor rs606231212 GRCh38 Chromosome 22, 29489697: 29489738
12 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh37 Chromosome 21, 33036142: 33036142
13 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh38 Chromosome 21, 31663829: 31663829
14 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 GRCh37 Chromosome 21, 33036145: 33036145
15 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 GRCh38 Chromosome 21, 31663832: 31663832
16 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 GRCh37 Chromosome 21, 33036154: 33036154
17 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 GRCh38 Chromosome 21, 31663841: 31663841
18 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 GRCh37 Chromosome 21, 33036155: 33036155
19 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 GRCh38 Chromosome 21, 31663842: 31663842
20 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 GRCh37 Chromosome 21, 33036161: 33036161
21 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 GRCh38 Chromosome 21, 31663848: 31663848
22 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 GRCh37 Chromosome 21, 33039650: 33039650
23 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 GRCh38 Chromosome 21, 31667337: 31667337
24 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 GRCh37 Chromosome 21, 33039587: 33039587
25 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 GRCh38 Chromosome 21, 31667274: 31667274
26 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
27 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 GRCh38 Chromosome 21, 31667298: 31667298
28 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 GRCh37 Chromosome 21, 33039612: 33039612
29 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 GRCh38 Chromosome 21, 31667299: 31667299
30 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh37 Chromosome 21, 33039633: 33039633
31 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh38 Chromosome 21, 31667320: 31667320
32 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 GRCh37 Chromosome 21, 33039669: 33039669
33 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 GRCh38 Chromosome 21, 31667356: 31667356
34 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 GRCh37 Chromosome 21, 33032096: 33032096
35 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 GRCh38 Chromosome 21, 31659783: 31659783
36 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 GRCh37 Chromosome 21, 33036170: 33036170
37 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 GRCh38 Chromosome 21, 31663857: 31663857
38 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 GRCh37 Chromosome 21, 33032095: 33032095
39 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 GRCh38 Chromosome 21, 31659782: 31659782
40 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 GRCh37 Chromosome 21, 33040860: 33040860
41 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 GRCh38 Chromosome 21, 31668547: 31668547
42 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 GRCh37 Chromosome 21, 33040862: 33040862
43 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 GRCh38 Chromosome 21, 31668549: 31668549
44 SOD1 SOD1, IVS4AS, T-G, -10 single nucleotide variant Pathogenic
45 SOD1 NM_000454.4(SOD1): c.20G> T (p.Cys7Phe) single nucleotide variant Pathogenic rs121912448 GRCh37 Chromosome 21, 33032102: 33032102
46 SOD1 NM_000454.4(SOD1): c.20G> T (p.Cys7Phe) single nucleotide variant Pathogenic rs121912448 GRCh38 Chromosome 21, 31659789: 31659789
47 SOD1 NM_000454.4(SOD1): c.455T> C (p.Ile152Thr) single nucleotide variant Pathogenic rs121912449 GRCh37 Chromosome 21, 33040881: 33040881
48 SOD1 NM_000454.4(SOD1): c.455T> C (p.Ile152Thr) single nucleotide variant Pathogenic rs121912449 GRCh38 Chromosome 21, 31668568: 31668568
49 SOD1 NM_000454.4(SOD1): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic rs121912450 GRCh37 Chromosome 21, 33032146: 33032146
50 SOD1 NM_000454.4(SOD1): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic rs121912450 GRCh38 Chromosome 21, 31659833: 31659833

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:

37
# 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 11.56 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 9.16 C9orf72 UBQLN2
2 autophagy GO:0006914 9.02 C9orf72 OPTN SQSTM1 UBQLN2 VCP
3 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 9.58 ANG C9orf72 CHCHD10 DAO DCTN1 FIG4
2 identical protein binding GO:0042802 9.5 FUS MATR3 OPTN SOD1 SQSTM1 TARDBP
3 polyubiquitin modification-dependent protein binding GO:0031593 9.37 OPTN VCP
4 miRNA binding GO:0035198 9.32 HNRNPA1 MATR3
5 dynein complex binding GO:0070840 9.26 DCTN1 NEFH
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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