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ALS1
MCID: AMY091
MIFTS: 91

Amyotrophic Lateral Sclerosis 1 (ALS1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

About this section

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 54 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
amyotrophic lateral sclerosis 1:
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Amyotrophic Lateral Sclerosis 1

About this section
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 that are distinguished by symptoms and, in some cases, genetic cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, slurred speech, and/or difficulty chewing or swallowing. 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. This means that a person may have inherited genetic changes (variants) that increase their risk to develop ALS, but the person will only develop ALS if exposed to certain environmental triggers. 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 disease (FALS). Familial ALS may be caused by changes (pathogenic variants, also known as mutations) in any one of several genes and the pattern of inheritance varies depending on the gene involved. The distinction between sporadic and familial cases is not always clear.  The average age at which symptoms begin is 56 years old in the sporadic cases and 46 years old in the familial cases.  Diagnosis of ALS is based on symptoms and a variety of tests to rule out other possible medical diseases that can cause similar symptoms. The goal of treatment is to improve the quality of life for people with ALS, by assisting with breathing, nutrition, mobility, and communication. Medications specifically approved for the treatment of ALS in the United States include riluzole and edaravone.

MalaCards based summary : Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis, is related to amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and amyotrophic lateral sclerosis 11, and has symptoms including seizures, ataxia and tremor. 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 Diuretics, Potassium Sparing 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), or Lou Gehrig''s... more...

GeneReviews: NBK1450
Sources

Related Diseases for Amyotrophic Lateral Sclerosis 1

About this section

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 4696)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 35.0 TARDBP OPTN FUS FIG4 DAO ANG
2 amyotrophic lateral sclerosis 11 34.9 TARDBP OPTN FUS FIG4 DAO ANG
3 amyotrophic lateral sclerosis 9 34.9 TARDBP OPTN FUS FIG4 DAO ANG
4 amyotrophic lateral sclerosis type 6 34.9 TARDBP FUS DAO
5 amyotrophic lateral sclerosis 18 34.9 TARDBP SOD1 PFN1 FUS C9orf72
6 amyotrophic lateral sclerosis 7 34.8 TARDBP OPTN FUS FIG4 DAO ANG
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.8 VCP UBQLN2 TARDBP SQSTM1 FUS CHCHD10
8 amyotrophic lateral sclerosis type 14 34.8 VCP VAPB UBQLN2 TARDBP OPTN FUS
9 frontotemporal dementia 34.4 VCP UBQLN2 TARDBP SQSTM1 SOD1 PFN1
10 motor neuron disease 33.5 VCP VAPB TARDBP SQSTM1 SOD1 PFN1
11 progressive muscular atrophy 32.8 TARDBP C9orf72
12 nervous system disease 32.5 TARDBP SOD1 OPTN C9orf72
13 dementia 32.5 HNRNPA1 FUS CHCHD10 C9orf72 VCP UBQLN2
14 perry syndrome 32.5 TARDBP DCTN1 C9orf72
15 amyotrophic lateral sclerosis 21 32.4 VCP VAPB TARDBP SOD1 OPTN MATR3
16 pick disease of brain 31.2 TARDBP SQSTM1 FUS
17 lateral sclerosis 31.1 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
18 progressive non-fluent aphasia 30.7 C9orf72 VCP
19 charcot-marie-tooth disease 30.7 VCP NEFH FIG4 DCTN1
20 brown-vialetto-van laere syndrome 30.6 UBQLN2 TARDBP SOD1 C9orf72
21 lethal congenital contracture syndrome 1 30.6 TARDBP FUS
22 behavioral variant of frontotemporal dementia 30.6 VCP SQSTM1 C9orf72
23 inclusion body myositis 30.6 SQSTM1 TARDBP VCP
24 paget's disease of bone 30.5 OPTN SQSTM1 VCP
25 postpoliomyelitis syndrome 30.5 TARDBP VCP
26 semantic dementia 30.4 TARDBP C9orf72
27 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 12.9
28 amyotrophic lateral sclerosis 2, juvenile 12.9
29 amyotrophic lateral sclerosis 8 12.9
30 amyotrophic lateral sclerosis 19 12.8
31 amyotrophic lateral sclerosis 16, juvenile 12.8
32 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 12.7
33 amyotrophic lateral sclerosis 17 12.7
34 juvenile amyotrophic lateral sclerosis 12.7
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.7
36 amyotrophic lateral sclerosis 12 12.7
37 amyotrophic lateral sclerosis 20 12.7
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.7
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.7
40 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.7
41 amyotrophic lateral sclerosis 3 12.7
42 amyotrophic lateral sclerosis type 5 12.7
43 madras motor neuron disease 12.7
44 amyotrophic lateral sclerosis 23 12.7
45 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.7
46 amyotrophic lateral sclerosis type 15 12.6
47 amyotrophic lateral sclerosis, juvenile, with dementia 12.6
48 amyotrophic lateral sclerosis type 22 12.6
49 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.4
50 tardbp-related amyotrophic lateral sclerosis 12.4

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



Diseases related to Amyotrophic Lateral Sclerosis 1
Sources

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 1

About this section

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 laryngospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0025425
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:


seizures, ataxia, tremor, myoclonus, back pain, pain, headache, hemiplegia, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscular fasciculation, 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 FUS SOD1
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 ANG FIG4 SQSTM1 VCP
8 Decreased viability GR00402-S-2 10.15 ANG C9orf72 CHCHD10 DAO DCTN1 FIG4
9 no effect GR00402-S-1 9.62 ANG C9orf72 CHCHD10 DAO DCTN1 FIG4

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 C9orf72 DAO DCTN1 FIG4 NEFH PFN1
Sources

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 1

About this section

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
2 Diuretics, Potassium Sparing Phase 4,Phase 3
3 Sodium Channel Blockers Phase 4,Phase 3
4 Anti-Arrhythmia Agents Phase 4,Phase 3
5
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
6
Dopamine Approved Phase 3,Phase 2 51-61-6, 62-31-7 681
7
Pramipexole Approved, Investigational Phase 3,Phase 2 104632-26-0 119570 59868
8
Riluzole Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 1744-22-5 5070
9
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
10
Quinidine Approved, Investigational Phase 3 56-54-2 441074
11
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
12
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 11953898 44475014
13
Methylcobalamin Approved, Experimental, Investigational Phase 3,Phase 2 13422-55-4
14
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
16
Zoledronic acid Approved Phase 2, Phase 3 118072-93-8 68740
17
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
18
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
19
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
20
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2 56-86-0 33032
21
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
22
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
24
Cobalamin Experimental Phase 3,Phase 2 13408-78-1 6438156
25
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
26 Psychotropic Drugs Phase 2, Phase 3
27 Tranquilizing Agents Phase 2, Phase 3
28 Antidepressive Agents Phase 2, Phase 3
29 Central Nervous System Depressants Phase 2, Phase 3
30 Antimanic Agents Phase 2, Phase 3
31 Superoxide Dismutase Phase 2, Phase 3,Phase 1
32 Antiparkinson Agents Phase 3,Phase 2
33 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
34 Dopamine agonists Phase 3,Phase 2
35 Antioxidants Phase 3,Phase 2,Phase 1
36 Dopamine Agents Phase 3,Phase 2
37 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
38 Excitatory Amino Acid Antagonists Phase 3,Phase 2,Not Applicable
39 Neuroprotective Agents Phase 3,Phase 2,Phase 1,Not Applicable
40 Anticonvulsants Phase 3,Phase 2,Not Applicable
41 Excitatory Amino Acids Phase 3,Phase 2,Not Applicable
42 Cholinergic Agents Phase 3,Phase 2
43 Cytochrome P-450 Enzyme Inhibitors Phase 3
44 Adrenergic Agents Phase 3
45 Antitussive Agents Phase 3
46 Antimalarials Phase 3,Phase 1,Phase 2
47 Cholinergic Antagonists Phase 3
48 Muscarinic Antagonists Phase 3
49 Anti-Infective Agents Phase 3,Phase 1,Phase 2
50 Chlorpheniramine, phenylpropanolamine drug combination Phase 3

Interventional clinical trials:

(show top 50) (show all 60)
# 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 Experiment. 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 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3 Dexpramipexole
5 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
6 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
7 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
8 Clinical Trial of Ultra-high Dose Methylcobalamin for ALS Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
9 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
10 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
11 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
12 Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients Not yet recruiting NCT03127267 Phase 3 Masitinib (6.0);Riluzole;Placebo;Masitinib (4.5)
13 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
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 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
16 SOD1 Inhibition by Pyrimethamine in Familial Amyotrophic Lateral Sclerosis (ALS) Completed NCT01083667 Phase 1, Phase 2 Pyrimethamine
17 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Active, not recruiting NCT02414230 Phase 2 Drug: F 18 T807
18 Clinical Trial of High Dose CoQ10 in ALS Completed NCT00243932 Phase 2 coenzyme Q10;Placebo
19 High Fat/High Calorie Trial in Amyotrophic Lateral Sclerosis Completed NCT00983983 Phase 2
20 Supported Treadmill Ambulation Training (STAT) for Patients Diagnosed With Amyotrophic Lateral Aclerosis Completed NCT00956488 Phase 1, Phase 2
21 A Multicenter, Double-Blind Study to Investigate the Safety and Efficacy of Arimoclomol in Volunteers With ALS Withdrawn NCT00561366 Phase 2 Placebo;Arimoclomol
22 Study Evaluating TCH346 and Placebo Administered Once Daily in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00072709 Phase 2 TCH346
23 Creatine for the Treatment of Amyotrophic Lateral Sclerosis Completed NCT00070993 Phase 2 creatine monohydrate
24 N-Acetylcysteine Augmentation in Treatment-Refractory Obsessive-Compulsive Disorder Terminated NCT00539513 Phase 2 N-Acetylcysteine;placebo
25 Riluzole Augmentation in Treatment-refractory Obsessive-compulsive Disorder Completed NCT00523718 Phase 2 riluzole;placebo
26 Riluzole to Treat Depression in Bipolar Disorder Terminated NCT00054704 Phase 2 Riluzole;Placebo
27 Safety Study of VM202 to Treat Amyotrophic Lateral Sclerosis Completed NCT02039401 Phase 1, Phase 2
28 A Trial of Tocilizumab in ALS Subjects Completed NCT02469896 Phase 2 Tocilizumab
29 Clinical Trial of SB-509 in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00748501 Phase 2 SB-509
30 Safety and Efficacy Study of Autologous Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis Completed NCT01363401 Phase 1, Phase 2
31 Safety and Efficacy Study of Creatine and Tamoxifen in Volunteers With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01257581 Phase 2 creatine;tamoxifen
32 Open-Label, Safety and Tolerability Extension Study of KNS-760704 in Amyotrophic Lateral Sclerosis (ALS) (CL211) Completed NCT00931944 Phase 2 KNS-760704
33 Safety and Tolerability Study of KNS-760704 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00647296 Phase 2 KNS-760704;KNS-760704;KNS-760704;Placebo
34 Far Infrared Irradiation for Control, Management and Treatment of Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00673140 Phase 1
35 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
36 Safety/Efficacy Study for the Treatment of Amyotrophic Lateral Sclerosis Suspended NCT01082653 Phase 1
37 Open-label Study to Evaluate Safety, Tolerability and PK of BHV-0223 in ALS Completed NCT03520517 Phase 1 BHV-0223
38 Effect of Noninvasive Ventilation on Lung Function in Amyotrophic Lateral Sclerosis Unknown status NCT00537446 Not Applicable
39 Study of the Role of G72 in Amyotrophic Lateral Sclerosis: Biomarker Discovery and Mechanism Investigation Unknown status NCT01378026
40 Motor-Point Stimulation for Conditioning the Diaphragm of Patients With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00420719 Not Applicable
41 Early Treatment of Amyotrophic Lateral Sclerosis (ALS) With Nutrition and Non-Invasive Positive Pressure Ventilation (NIPPV) Unknown status NCT00116558 Not Applicable
42 The Pre-symptomatic Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study Recruiting NCT00317616
43 Treatment of FUS-Related ALS With Betamethasone - The TRANSLATE Study Recruiting NCT03707795 Early Phase 1 Betamethasone sodium phosphate/betamethasone acetate (Celestone® Soluspan®), 30 mg IM once a day for four days
44 Cortex Changes in Real/Imagined Movements in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00809224
45 NeuroCognitive Communicator: Safety Study Not yet recruiting NCT03100110 Not Applicable
46 Neurogenic Inflammation in Diabetes Completed NCT01370837 Not Applicable
47 A Systematic Investigation of Phonetic Complexity Effects on Articulatory Motor Performance in Progressive Dysarthria Recruiting NCT03613038 Not Applicable
48 Expanded Access Protocol of BHV-0223 for Patients With Amyotrophic Lateral Sclerosis (ALS) Available NCT03537807 Riluzole
49 A Pilot Study of the Utility of 3D Printed Masks for ALS Subjects Enrolling by invitation NCT03519880 Not Applicable
50 Treatment of Refractory Schizophrenia With Riluzole Suspended NCT00375050 Not Applicable Riluzole;Placebo

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.
Stem-cell-based therapeutic approaches for Amyotrophic Lateral Sclerosis 1:
Autologous bone marrow-derived stem cells for treatment of amyotrophic lateral sclerosis
Human fetal neural stem cells for treatment of amyotrophic lateral sclerosis
Human mesenchymal stem cell transplantation in mouse model of amyotrophic lateral sclerosis
HYNR-CS inj, bone marrow-derived stem cells for amyotrophic lateral sclerosis
Mesenchymal stem cell transplantation in amyotrophic lateral sclerosis patients
Mesenchymal stem cells for amyotrophic lateral sclerosis
MotorGraft�, embryonic stem cell-derived motor neuron progenitors for neuromuscular diseases
Neural stem cell transplantation for amyotrophic lateral sclerosis
NSI-566, spinal cord stem cells for neurological disorders
NurOwn�, mesenchymal stem cells secreting NTF for neurodegenerative diseases
Umbilical cord-derived mesenchymal stem cells for treatment of amyotrophic lateral sclerosis
Embryonic/Adult Cultured Cells Related to Amyotrophic Lateral Sclerosis 1:
Bone marrow-derived mononuclear cells
Bone marrow-derived mesenchymal stem cells PMIDs: 18586098
Bone marrow-derived mesenchymal stem cells (HYNR-CS inj) PMIDs: 20117176
Bone marrow-derived mesenchymal stem cells PMIDs: 21954839 19682989 17582439
Adipose-derived mesenchymal stem cells (family)
Motor neuron progenitor cells
Neural stem cells LewisX+ CXCR4+ PMIDs: 17439986
Fetal spinal cord stem cells (NSI-566) PMIDs: 22415942 19326469
Astrocyte-like cells PMIDs: 19127447 19603590
Umbilical cord-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: amyotrophic lateral sclerosis

Sources

Genetic Tests for Amyotrophic Lateral Sclerosis 1

About this section

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
Sources

Anatomical Context for Amyotrophic Lateral Sclerosis 1

About this section

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

41
Spinal Cord, Brain, Bone, Skeletal Muscle, Testes, Bone Marrow, 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
Sources

Publications for Amyotrophic Lateral Sclerosis 1

About this section

Articles related to Amyotrophic Lateral Sclerosis 1:

(show top 50) (show all 3543)
# Title Authors Year
1
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. ( 30348461 )
2019
2
Elucidating the End-of-Life Experience of Persons With Amyotrophic Lateral Sclerosis. ( 30422919 )
2019
3
Amyotrophic lateral sclerosis as a synaptopathy. ( 30530995 )
2019
4
Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach. ( 30530996 )
2019
5
Safety of intrathecal injection of Wharton's jelly-derived mesenchymal stem cells in amyotrophic lateral sclerosis therapy. ( 30531015 )
2019
6
Misdiagnosis: Hypoglossal palsy mimicking bulbar onset amyotrophic lateral sclerosis. ( 30555942 )
2019
7
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction. ( 30290270 )
2019
8
Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients. ( 30301576 )
2019
9
Genetic activation of parkin rescues TAF15-induced neurotoxicity in a Drosophila model of amyotrophic lateral sclerosis. ( 30339961 )
2019
10
UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. ( 30368160 )
2019
11
Defective daily temperature regulation in a mouse model of amyotrophic lateral sclerosis. ( 30031021 )
2019
12
Safety, Feasibility of Intravenous and Intrathecal Injection of Autologous Bone Marrow Derived Mesenchymal Stromal Cells in Patients with Amyotrophic Lateral Sclerosis: An Open Label Phase I Clinical Trial. ( 30124008 )
2019
13
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China. ( 29629536 )
2018
14
Amyotrophic Lateral Sclerosis Associated with Statin Use: A Disproportionality Analysis of the FDA's Adverse Event Reporting System. ( 29427042 )
2018
15
Successful Management of Acquired Tracheomalacia of Patients With Amyotrophic Lateral Sclerosis: A Report of Three Cases. ( 29765893 )
2018
16
Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study. ( 29939990 )
2018
17
Therapeutic effects of percutaneous endoscopic gastrostomy on survival in patients with amyotrophic lateral sclerosis: A meta-analysis. ( 29408898 )
2018
18
EFFECT OF WEDELOLACTONE AND GALLIC ACID ON QUINOLINIC ACID-INDUCED NEUROTOXICITY AND IMPAIRED MOTOR FUNCTION: SIGNIFICANCE TO SPORADIC AMYOTROPHIC LATERAL SCLEROSIS. ( 29981346 )
2018
19
Independent home use of a brain-computer interface by people with amyotrophic lateral sclerosis. ( 29950436 )
2018
20
Impact of expiratory strength training in amyotrophic lateral sclerosis: Results of a randomized sham controlled trial. ( 29981250 )
2018
21
Lipid Metabolism and Survival Across the Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum: Relationships to Eating Behavior and Cognition. ( 29254092 )
2018
22
A Metadata Analysis of Oxidative Stress Etiology in Preclinical Amyotrophic Lateral Sclerosis: Benefits of Antioxidant Therapy. ( 29416499 )
2018
23
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
24
Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis. ( 29941342 )
2018
25
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
26
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
27
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. ( 29942091 )
2018
28
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
29
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
30
Amyotrophic Lateral Sclerosis after Receiving the Human Papilloma Virus Vaccine: A Case Report of a 15-year-old Girl. ( 29434138 )
2018
31
Pseudobulbar Affect Correlates With Mood Symptoms in Parkinsonian Disorders but Not Amyotrophic Lateral Sclerosis. ( 29505320 )
2018
32
Radial diffusivity as an imaging biomarker for early diagnosis of non-demented amyotrophic lateral sclerosis. ( 29948064 )
2018
33
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
34
No Benefit of Diaphragm Pacing in Upper Motor Neuron Dominant Forms of Amyotrophic Lateral Sclerosis. ( 29957023 )
2018
35
Thoracoabdominal asynchrony and paradoxical motion in middle stage amyotrophic lateral sclerosis. ( 29969705 )
2018
36
Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis. ( 29349657 )
2018
37
Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis. ( 29417336 )
2018
38
Primary lateral sclerosis and the amyotrophic lateral sclerosis-frontotemporal dementia spectrum. ( 29868980 )
2018
39
Sharing and Empathy in Digital Spaces: Qualitative Study of Online Health Forums for Breast Cancer and Motor Neuron Disease (Amyotrophic Lateral Sclerosis). ( 29903695 )
2018
40
Comparison of optical coherence tomography findings and visual field changes in patients with primary open-angle glaucoma and amyotrophic lateral sclerosis. ( 29169899 )
2018
41
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
42
Association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS). ( 29961556 )
2018
43
ERp57 is protective against mutant SOD1-induced cellular pathology in Amyotrophic Lateral Sclerosis. ( 29409023 )
2018
44
Using an onset-anchored Bayesian hierarchical model to improve predictions for amyotrophic lateral sclerosis disease progression. ( 29409450 )
2018
45
TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis. ( 29954341 )
2018
46
Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease. ( 29293261 )
2018
47
Amyotrophic Lateral Sclerosis Model. ( 29951816 )
2018
48
Transcriptomics in amyotrophic lateral sclerosis. ( 28930607 )
2018
49
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. ( 29955173 )
2018
50
Biomarkers of Amyotrophic Lateral Sclerosis: Current Status and Interest of Oxysterols and Phytosterols. ( 29445325 )
2018
Sources

Variations for Amyotrophic Lateral Sclerosis 1

About this section

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 379)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEFH NM_021076.3(NEFH): c.2057_2098del42 (p.Ala686_Lys699del) deletion risk factor rs606231212 GRCh37 Chromosome 22, 29885686: 29885727
2 NEFH NM_021076.3(NEFH): c.2057_2098del42 (p.Ala686_Lys699del) deletion risk factor rs606231212 GRCh38 Chromosome 22, 29489697: 29489738
3 SOD1 NM_000454.4(SOD1): c.253T> G (p.Leu85Val) single nucleotide variant Pathogenic rs121912452 GRCh38 Chromosome 21, 31667271: 31667271
4 SOD1 NM_000454.4(SOD1): c.49G> A (p.Gly17Ser) single nucleotide variant Pathogenic rs121912453 GRCh37 Chromosome 21, 33032131: 33032131
5 SOD1 NM_000454.4(SOD1): c.49G> A (p.Gly17Ser) single nucleotide variant Pathogenic rs121912453 GRCh38 Chromosome 21, 31659818: 31659818
6 SOD1 NM_000454.4(SOD1): c.380T> A (p.Leu127Ter) single nucleotide variant Pathogenic rs121912454 GRCh37 Chromosome 21, 33040806: 33040806
7 SOD1 NM_000454.4(SOD1): c.380T> A (p.Leu127Ter) single nucleotide variant Pathogenic rs121912454 GRCh38 Chromosome 21, 31668493: 31668493
8 SOD1 SOD1, IVS4AS, A-G, -11 single nucleotide variant Pathogenic
9 SOD1 NM_000454.4(SOD1): c.217G> A (p.Gly73Ser) single nucleotide variant Pathogenic rs121912455 GRCh37 Chromosome 21, 33038809: 33038809
10 SOD1 NM_000454.4(SOD1): c.217G> A (p.Gly73Ser) single nucleotide variant Pathogenic rs121912455 GRCh38 Chromosome 21, 31666496: 31666496
11 SOD1 NM_000454.4(SOD1): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic rs121912456 GRCh37 Chromosome 21, 33032119: 33032119
12 SOD1 NM_000454.4(SOD1): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic rs121912456 GRCh38 Chromosome 21, 31659806: 31659806
13 SOD1 NM_000454.4(SOD1): c.137T> G (p.Phe46Cys) single nucleotide variant Pathogenic rs121912457 GRCh37 Chromosome 21, 33036167: 33036167
14 SOD1 NM_000454.4(SOD1): c.137T> G (p.Phe46Cys) single nucleotide variant Pathogenic rs121912457 GRCh38 Chromosome 21, 31663854: 31663854
15 SOD1 NM_000454.4(SOD1): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121912458 GRCh37 Chromosome 21, 33039573: 33039573
16 SOD1 NM_000454.4(SOD1): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121912458 GRCh38 Chromosome 21, 31667260: 31667260
17 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
18 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh38 Chromosome 21, 31667298: 31667298
19 SOD1 SOD1, 6-BP DEL, GGACCA deletion Pathogenic
20 SOD1 SOD1, IVS4AS, C-G, -304 single nucleotide variant Pathogenic
21 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672
22 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh38 Chromosome 21, 31667359: 31667359
23 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh37 Chromosome 2, 74590116: 74590116
24 DCTN1 NM_004082.4(DCTN1): c.3529+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72466494 GRCh38 Chromosome 2, 74362989: 74362989
25 DCTN1 NM_004082.4(DCTN1): c.2952C> G (p.Ala984=) single nucleotide variant Likely benign rs371241720 GRCh38 Chromosome 2, 74365592: 74365592
26 DCTN1 NM_004082.4(DCTN1): c.2952C> G (p.Ala984=) single nucleotide variant Likely benign rs371241720 GRCh37 Chromosome 2, 74592719: 74592719
27 DCTN1 NM_004082.4(DCTN1): c.2544T> C (p.Ala848=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 74366543: 74366543
28 DCTN1 NM_004082.4(DCTN1): c.2544T> C (p.Ala848=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 74593670: 74593670
29 DCTN1 NM_004082.4(DCTN1): c.2254-5C> T single nucleotide variant Likely benign rs746514094 GRCh37 Chromosome 2, 74594239: 74594239
30 DCTN1 NM_004082.4(DCTN1): c.2254-5C> T single nucleotide variant Likely benign rs746514094 GRCh38 Chromosome 2, 74367112: 74367112
31 DCTN1 NM_004082.4(DCTN1): c.1928G> A (p.Arg643Gln) single nucleotide variant Uncertain significance rs555733849 GRCh38 Chromosome 2, 74368058: 74368058
32 DCTN1 NM_004082.4(DCTN1): c.1928G> A (p.Arg643Gln) single nucleotide variant Uncertain significance rs555733849 GRCh37 Chromosome 2, 74595185: 74595185
33 DCTN1 NM_004082.4(DCTN1): c.1482G> A (p.Ala494=) single nucleotide variant Likely benign rs372546194 GRCh37 Chromosome 2, 74596529: 74596529
34 DCTN1 NM_004082.4(DCTN1): c.1482G> A (p.Ala494=) single nucleotide variant Likely benign rs372546194 GRCh38 Chromosome 2, 74369402: 74369402
35 DCTN1 NM_004082.4(DCTN1): c.1127+6G> A single nucleotide variant Uncertain significance rs951022782 GRCh38 Chromosome 2, 74370460: 74370460
36 DCTN1 NM_004082.4(DCTN1): c.1127+6G> A single nucleotide variant Uncertain significance rs951022782 GRCh37 Chromosome 2, 74597587: 74597587
37 DCTN1 NM_004082.4(DCTN1): c.833A> T (p.Glu278Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 74370989: 74370989
38 DCTN1 NM_004082.4(DCTN1): c.833A> T (p.Glu278Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 74598116: 74598116
39 DCTN1 NM_004082.4(DCTN1): c.376G> A (p.Ala126Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 74377449: 74377449
40 DCTN1 NM_004082.4(DCTN1): c.376G> A (p.Ala126Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 74604576: 74604576
41 SOD1 NM_000454.4(SOD1): c.260A> G (p.Asn87Ser) single nucleotide variant Likely pathogenic rs11556620 GRCh37 Chromosome 21, 33039591: 33039591
42 SOD1 NM_000454.4(SOD1): c.260A> G (p.Asn87Ser) single nucleotide variant Likely pathogenic rs11556620 GRCh38 Chromosome 21, 31667278: 31667278
43 SOD1 NM_000454.4(SOD1): c.59A> G (p.Asn20Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs768029813 GRCh37 Chromosome 21, 33032141: 33032141
44 SOD1 NM_000454.4(SOD1): c.59A> G (p.Asn20Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs768029813 GRCh38 Chromosome 21, 31659828: 31659828
45 SOD1 NM_000454.4(SOD1): c.443G> A (p.Gly148Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 21, 31668556: 31668556
46 SOD1 NM_000454.4(SOD1): c.443G> A (p.Gly148Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 21, 33040869: 33040869
47 SOD1 NM_000454.4(SOD1): c.220G> A (p.Gly74Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 33038812: 33038812
48 SOD1 NM_000454.4(SOD1): c.220G> A (p.Gly74Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 31666499: 31666499
49 SOD1 NM_000454.4(SOD1): c.268G> A (p.Ala90Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 33039599: 33039599
50 SOD1 NM_000454.4(SOD1): c.268G> A (p.Ala90Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 31667286: 31667286

Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:

7 (show top 50) (show all 272)
# 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
Sources

Expression for Amyotrophic Lateral Sclerosis 1

About this section
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.
Sources

Pathways for Amyotrophic Lateral Sclerosis 1

About this section

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
Neuroscience 4
11.56 DCTN1 NEFH OPTN SOD1 TARDBP
2
Amyotrophic lateral sclerosis (ALS) 1 37
Show member pathways
 11.49 NEFH PRPH SOD1
3
Cytoskeleton remodeling Neurofilaments 22
Show member pathways
 11.37 DCTN1 NEFH PRPH
4
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
10.96 NEFH PFN1 SOD1
Sources

GO Terms for Amyotrophic Lateral Sclerosis 1

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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 9.32 OPTN VCP
4 dynein complex binding GO:0070840 9.26 DCTN1 NEFH
5 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.16 OPTN SQSTM1
Sources

Sources for Amyotrophic Lateral Sclerosis 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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