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ALS1
MCID: AMY091
MIFTS: 90

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 58 12 76 13 39 74
Amyotrophic Lateral Sclerosis 58 39 12 77 25 54 26 55 60 76 38 30 56 6 44 3 45 15 17 74
Als 12 54 26 60 76 3
Amyotrophic Lateral Sclerosis Type 1 12 54 30 6 15
Lou Gehrig's Disease 12 77 25 55 3
Lou Gehrig Disease 54 26 60 76
Charcot Disease 54 26 60 76
Als1 58 12 54 76
Amyotrophic Lateral Sclerosis, Susceptibility to 58 6
Familial Amyotrophic Lateral Sclerosis 76 17
Motor Neuron Disease 76 74
Fals 58 76
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant 58
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 26
Amyotrophic Lateral Sclerosis 1, Familial; Fals 58
Amyotrophic Lateral Sclerosis with Dementia 26
Dementia with Amyotrophic Lateral Sclerosis 26
Amyotrophic Lateral Sclerosis 1, Familial 58
Sclerosis, Lateral, Amyotrophic, Type 1 41
Sclerosis, Lateral, Amyotrophic 41
Motor Neuron Disease, Bulbar 12
Mnd 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
amyotrophic lateral sclerosis 1:
Inheritance heterogeneous autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Respiratory diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases


Sources

Summaries for Amyotrophic Lateral Sclerosis 1

About this section
NIH Rare Diseases : 54 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 18, 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 Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include Bone and Limb, and related phenotypes are amyotrophic lateral sclerosis and generalized muscle weakness

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 : 26 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 : 58 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 : 44 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 : 55 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 : 76 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 : 77 Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig''s disease,... 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 4985)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 35.7 ANG DAO FIG4 FUS OPTN TARDBP
2 amyotrophic lateral sclerosis 18 35.5 C9orf72 FUS SOD1 TARDBP
3 amyotrophic lateral sclerosis 11 35.5 ANG DAO FIG4 FUS OPTN TARDBP
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 35.4 C9orf72 CHCHD10 CHMP2B FUS SQSTM1 TARDBP
5 amyotrophic lateral sclerosis type 6 35.4 DAO FUS TARDBP
6 amyotrophic lateral sclerosis 7 35.4 ANG DAO FIG4 FUS OPTN TARDBP
7 amyotrophic lateral sclerosis type 14 35.3 FUS OPTN TARDBP UBQLN2 VAPB VCP
8 frontotemporal dementia 35.0 C9orf72 CHCHD10 CHMP2B FUS HNRNPA1 NEFH
9 motor neuron disease 34.1 C9orf72 CHCHD10 DCTN1 FUS NEFH OPTN
10 progressive muscular atrophy 33.2 C9orf72 TARDBP
11 dementia 33.1 C9orf72 CHCHD10 CHMP2B FUS HNRNPA1 SQSTM1
12 amyotrophic lateral sclerosis 21 33.0 C9orf72 FUS MATR3 OPTN SOD1 TARDBP
13 perry syndrome 32.9 C9orf72 DCTN1 TARDBP
14 lateral sclerosis 31.8 ANG C9orf72 CHCHD10 DCTN1 FIG4 FUS
15 pick disease of brain 31.6 FUS SQSTM1 TARDBP
16 amyotrophic lateral sclerosis 9 31.4 ANG DAO FIG4 FUS OPTN TARDBP
17 paget's disease of bone 31.3 OPTN SQSTM1 VCP
18 progressive non-fluent aphasia 31.2 C9orf72 CHMP2B VCP
19 behavioral variant of frontotemporal dementia 31.1 C9orf72 CHMP2B SQSTM1 VCP
20 charcot-marie-tooth disease 31.0 DCTN1 FIG4 NEFH VCP
21 brown-vialetto-van laere syndrome 31.0 C9orf72 SOD1 TARDBP UBQLN2
22 semantic dementia 31.0 C9orf72 CHMP2B TARDBP
23 inclusion body myositis 30.9 SQSTM1 TARDBP VCP
24 lethal congenital contracture syndrome 1 30.9 FUS TARDBP
25 postpoliomyelitis syndrome 30.8 TARDBP VCP
26 nervous system disease 30.5 C9orf72 OPTN SOD1 TARDBP
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 17 12.9
31 amyotrophic lateral sclerosis 16, juvenile 12.9
32 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.9
33 amyotrophic lateral sclerosis 12 12.9
34 amyotrophic lateral sclerosis 20 12.9
35 amyotrophic lateral sclerosis 19 12.9
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.9
37 amyotrophic lateral sclerosis type 5 12.8
38 amyotrophic lateral sclerosis 23 12.8
39 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 12.8
40 juvenile amyotrophic lateral sclerosis 12.8
41 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.8
42 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.7
43 madras motor neuron disease 12.7
44 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.7
45 amyotrophic lateral sclerosis, juvenile, with dementia 12.7
46 amyotrophic lateral sclerosis type 15 12.7
47 amyotrophic lateral sclerosis type 22 12.6
48 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.5
49 al-raqad syndrome 12.4
50 motor neuron disease with dementia and ophthalmoplegia 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

Human phenotypes related to Amyotrophic Lateral Sclerosis 1:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 amyotrophic lateral sclerosis 60 33 obligate (100%) Obligate (100%) HP:0007354
2 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
3 neurodegeneration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002180
4 emotional lability 60 33 frequent (33%) Frequent (79-30%) HP:0000712
5 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
6 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
7 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
8 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
9 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
10 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
11 xerostomia 60 33 frequent (33%) Frequent (79-30%) HP:0000217
12 respiratory failure 60 33 frequent (33%) Frequent (79-30%) HP:0002878
13 paralysis 60 33 frequent (33%) Frequent (79-30%) HP:0003470
14 pain 60 33 frequent (33%) Frequent (79-30%) HP:0012531
15 fatigable weakness of swallowing muscles 60 33 frequent (33%) Frequent (79-30%) HP:0030195
16 fatigable weakness of respiratory muscles 60 33 frequent (33%) Frequent (79-30%) HP:0030196
17 muscle spasm 33 frequent (33%) HP:0003394
18 nausea and vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002017
19 agitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000713
20 laryngospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0025425
21 muscle weakness 33 HP:0001324
22 hyperreflexia 33 HP:0001347
23 sleep apnea 33 HP:0010535
24 motor neuron atrophy 60 Very frequent (99-80%)
25 functional respiratory abnormality 60 Frequent (79-30%)
26 muscle cramps 60 Frequent (79-30%)
27 fatigable weakness of bulbar muscles 60 Frequent (79-30%)
28 fasciculations 33 HP:0002380
29 degeneration of the lateral corticospinal tracts 33 HP:0002314
30 pseudobulbar paralysis 33 HP:0007024
31 degeneration of anterior horn cells 33 HP:0002398

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ANG C9orf72 CHCHD10 CHMP2B DAO DCTN1

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 C9orf72 DAO DCTN1 FIG4 NEFH SOD1
2 cellular MP:0005384 9.7 C9orf72 CHCHD10 DCTN1 MATR3 NEFH PON1
3 nervous system MP:0003631 9.4 C9orf72 CHMP2B DAO DCTN1 FIG4 NEFH
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 340)
# 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
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
4 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
6 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
10 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
12 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
13 Wakefulness-Promoting Agents Phase 4
14 Central Nervous System Stimulants Phase 4,Phase 1
15 Cytochrome P-450 CYP3A Inducers Phase 4
16
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
17
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
18
Iron Approved, Experimental Phase 2, Phase 3,Not Applicable 7439-89-6, 15438-31-0 27284 23925
19
Dopamine Approved Phase 3,Phase 2,Phase 1 62-31-7, 51-61-6 681
20
Pramipexole Approved, Investigational Phase 3,Phase 2,Phase 1 104632-26-0 119570 59868
21
Quinidine Approved, Investigational Phase 3,Phase 2,Phase 1 56-54-2 441074
22
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 93-14-1 3516
23
Dextromethorphan Approved Phase 3,Phase 2,Phase 1 125-71-3 5362449 5360696
24
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 15589840 11953898
25
Methylcobalamin Approved, Experimental, Investigational Phase 3,Phase 2 13422-55-4
26
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
27
Zoledronic Acid Approved Phase 2, Phase 3 118072-93-8 68740
28
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
29
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
30
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
31
Acetylcholine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 51-84-3 187
32
Deferiprone Approved Phase 2, Phase 3,Not Applicable 30652-11-0 2972
33
Edaravone Approved, Investigational Phase 2, Phase 3,Phase 3 89-25-8 70335
34
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
35
Mecasermin Approved, Investigational Phase 3 68562-41-4
36
Zinc Approved, Investigational Phase 3,Phase 1,Phase 2 7440-66-6 32051
37
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
38
Sargramostim Approved, Investigational Phase 2, Phase 3,Not Applicable 123774-72-1, 83869-56-1
39
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
40
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
41
Valproic Acid Approved, Investigational Phase 3,Phase 2 99-66-1 3121
42
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
43
Sodium Citrate Approved, Investigational Phase 3,Phase 2 68-04-2
44
Citalopram Approved Phase 3 59729-33-8 2771
45
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2,Not Applicable 57-00-1 586
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
47
Glutamic Acid Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 56-86-0 33032
48
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
49
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
50
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057

Interventional clinical trials:

(show top 50) (show all 518)
# 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 Completed 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 Experiment. 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 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3 Dexpramipexole
12 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
13 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
14 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
15 Clinical Trial of Ultra-high Dose Methylcobalamin for ALS Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
16 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
17 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
18 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
19 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)
20 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
21 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)
22 Masitinib in Combination With Riluzole for the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT02588677 Phase 2, Phase 3 Masitinib (4.5);Riluzole;Placebo;Masitinib (3.0)
23 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
24 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
25 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
26 Memantine for Disability in Amyotrophic Lateral Sclerosis (MEDALS) Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
27 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
28 Efficacy of Cannabinoids in Amyotrophic Lateral Sclerosis or Motor Neurone Disease Recruiting NCT03690791 Phase 3 CannTrust CBD Oil (capsule);Placebo (capsule)
29 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
30 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
31 The Effect of GCSF in the Treatment of ALS Patients Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
32 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
33 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
34 An Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BIIB067 in Adults With Inherited Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT02623699 Phase 3 BIIB067
35 Phase 3 Study of Dexpramipexole in ALS Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
36 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
37 Repetitive Transcranial Magnetic Stimulation (rTMS) in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
38 Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation Terminated NCT01583088 Phase 3
39 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
40 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
41 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
42 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3 Sodium Valproate
43 Clinical Trial Ceftriaxone in Subjects With ALS Completed NCT00349622 Phase 3 ceftriaxone
44 Safety and Efficacy of TUDCA as add-on Treatment in Patients Affected by ALS Recruiting NCT03800524 Phase 3 Tauroursodeoxycholic Acid;Placebo
45 Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS) Terminated NCT01016522 Phase 3
46 Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From ALS Completed NCT00868166 Phase 3 Olesoxime;Placebo Comparator;Riluzole
47 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Completed NCT02936635 Phase 3 tirasemtiv
48 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
49 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Completed NCT02496767 Phase 3 tirasemtiv;Placebo tablets;Riluzole 50 MG
50 Safety Extension Study of TRO19622 in ALS Completed NCT01285583 Phase 2, Phase 3 TRO19622

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 C9orf72 OPTN UBQLN2 VCP
2 Amyotrophic Lateral Sclerosis Type 1 30 DCTN1 NEFH PRPH SOD1
Sources

Anatomical Context for Amyotrophic Lateral Sclerosis 1

About this section

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

42
Brain, Spinal Cord, Bone, Skeletal Muscle, Heart, Skin, Testes
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

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Articles related to Amyotrophic Lateral Sclerosis 1:

(show top 50) (show all 5298)
# Title Authors Year
1
Novel Insights on Systemic and Brain Aging, Stroke, Amyotrophic Lateral Sclerosis, and Alzheimer's Disease. ( 31011489 )
2019
2
Episodic memory and learning rates in amyotrophic lateral sclerosis without dementia. ( 31005026 )
2019
3
Eating peptides: biomarkers of neurodegeneration in amyotrophic lateral sclerosis and frontotemporal dementia. ( 30911572 )
2019
4
Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia. ( 30791515 )
2019
5
Implications of Microglia in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. ( 30763568 )
2019
6
GABAB receptor encephalitis in a patient diagnosed with amyotrophic lateral sclerosis. ( 30871492 )
2019
7
Depression and risk of cognitive dysfunctions in amyotrophic lateral sclerosis. ( 30712314 )
2019
8
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase. ( 30224549 )
2019
9
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. ( 30348461 )
2019
10
HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis. ( 30867060 )
2019
11
Moral judgment in patients with behavioral variant of frontotemporal dementia and amyotrophic lateral sclerosis: no impairment of the moral position, but rather its execution. ( 30513214 )
2019
12
A case of progressive non-fluent aphasia as onset of amyotrophic lateral sclerosis with frontotemporal dementia. ( 30146930 )
2019
13
Assessing Anxiety and its correlates in Amyotrophic Lateral Sclerosis: the State-Trait Anxiety Inventory. ( 30897219 )
2019
14
Reaction to Endoplasmic Reticulum Stress via ATF6 in Amyotrophic Lateral Sclerosis Deteriorates With Aging. ( 30740050 )
2019
15
A case of amyotrophic lateral sclerosis which was diagnosed with progressive dysphagia and muscle atrophy. ( 30631656 )
2019
16
C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis. ( 30859373 )
2019
17
A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor. ( 30684766 )
2019
18
Impaired short and long latency afferent inhibition in ALS. ( 30847934 )
2019
19
Androgen receptor antagonism accelerates disease onset in the SOD1G93A mouse model of amyotrophic lateral sclerosis. ( 30849180 )
2019
20
Multicentre, population-based, case-control study of particulates, combustion products and amyotrophic lateral sclerosis risk. ( 30850472 )
2019
21
Carboxyl-terminal modulator protein regulates Akt signaling during skeletal muscle atrophy in vitro and a mouse model of amyotrophic lateral sclerosis. ( 30850672 )
2019
22
Positron emission tomography neuroimaging in neurodegenerative diseases: Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. ( 30855701 )
2019
23
ROCK inhibition improves axonal regeneration in a preclinical model of amyotrophic lateral sclerosis. ( 30861116 )
2019
24
Searching for Bacteria in Neural Tissue From Amyotrophic Lateral Sclerosis. ( 30863279 )
2019
25
Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China. ( 30863961 )
2019
26
Genetics of amyotrophic lateral sclerosis: A review. ( 30870681 )
2019
27
Vestibular evoked myogenic potentials and their clinical utility in patients with amyotrophic lateral sclerosis. ( 30870800 )
2019
28
Combined Tissue-Fluid Proteomics to Unravel Phenotypic Variability in Amyotrophic Lateral Sclerosis. ( 30872628 )
2019
29
Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions. ( 30872992 )
2019
30
Smoking is a cause of ALS. High LDL-cholesterol levels? Unsure. ( 30875450 )
2019
31
Correction to: Modeling hallmark pathology using motor neurons derived from the family and sporadic amyotrophic lateral sclerosis patient-specific iPS cells. ( 30876443 )
2019
32
A review of electrophysiological studies of lower motor neuron involvement in amyotrophic lateral sclerosis. ( 30877611 )
2019
33
RE: "AMYOTROPHIC LATERAL SCLEROSIS AND EXPOSURE TO DIESEL EXHAUST IN A DANISH COHORT". ( 30877741 )
2019
34
ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population. ( 30879219 )
2019
35
Amyotrophic lateral sclerosis due to a SOD1 mutation and X-linked recessive bulbospinal neuronopathy in a single family. ( 30879265 )
2019
36
Amyotrophic lateral sclerosis. ( 30879475 )
2019
37
RNA Sequencing Reveals Small and Variable Contributions of Infectious Agents to Transcriptomes of Postmortem Nervous Tissues From Amyotrophic Lateral Sclerosis, Alzheimer's Disease and Parkinson's Disease Subjects, and Increased Expression of Genes From Disease-Activated Microglia. ( 30983949 )
2019
38
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk. ( 30985904 )
2019
39
Microstructural correlates of Edinburgh Cognitive and Behavioural ALS Screen (ECAS) changes in amyotrophic lateral sclerosis. ( 30987770 )
2019
40
ULTRASOUND IN THE DIAGNOSIS AND MONITORING OF AMYOTROPHIC LATERAL SCLEROSIS: A REVIEW. ( 30989697 )
2019
41
Prognostic analysis of amyotrophic lateral sclerosis based on clinical features and plasma surface-enhanced Raman spectroscopy. ( 30989810 )
2019
42
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. ( 30992063 )
2019
43
A Dynamic Bayesian Network model for the simulation of Amyotrophic Lateral Sclerosis progression. ( 30999865 )
2019
44
Predicting respiratory failure in amyotrophic lateral sclerosis: recruiting a few good pulmonologists. ( 31000666 )
2019
45
Frontal Anatomical Correlates of Cognitive and Speech Motor Deficits in Amyotrophic Lateral Sclerosis. ( 31001362 )
2019
46
White matter changes in the perforant path area in patients with amyotrophic lateral sclerosis. ( 31002412 )
2019
47
Motor cortex metabolite alterations in Amyotrophic Lateral Sclerosis assessed in vivo using edited and non-edited magnetic resonance spectroscopy. ( 31002818 )
2019
48
A novel muscle cramp scale (MCS) in amyotrophic lateral sclerosis (ALS). ( 31007059 )
2019
49
Mimickers of Amyotrophic Lateral Sclerosis. ( 31007454 )
2019
50
Functional microglia neurotransmitters in amyotrophic lateral sclerosis. ( 31009755 )
2019
Sources

Variations for Amyotrophic Lateral Sclerosis 1

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

76 (show top 50) (show all 83)
# 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 rs121912438
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 rs130163532
31 SOD1 p.Asp126His VAR_007157
32 SOD1 p.Ser135Asn VAR_007158 rs121912451
33 SOD1 p.Asn140Lys VAR_007159 rs1804449
34 SOD1 p.Leu145Phe VAR_007160 rs148276034
35 SOD1 p.Val149Gly VAR_007161 rs147676062
36 SOD1 p.Val149Ile VAR_007162 rs567511139
37 SOD1 p.Ile150Thr VAR_007163 rs142401499
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 381)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh37 Chromosome 21, 33036142: 33036142
2 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh38 Chromosome 21, 31663829: 31663829
3 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 GRCh37 Chromosome 21, 33036145: 33036145
4 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 GRCh38 Chromosome 21, 31663832: 31663832
5 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 GRCh37 Chromosome 21, 33036154: 33036154
6 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 GRCh38 Chromosome 21, 31663841: 31663841
7 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 GRCh37 Chromosome 21, 33036155: 33036155
8 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 GRCh38 Chromosome 21, 31663842: 31663842
9 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 GRCh37 Chromosome 21, 33036161: 33036161
10 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 GRCh38 Chromosome 21, 31663848: 31663848
11 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 GRCh37 Chromosome 21, 33039650: 33039650
12 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 GRCh38 Chromosome 21, 31667337: 31667337
13 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 GRCh37 Chromosome 21, 33039587: 33039587
14 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 GRCh38 Chromosome 21, 31667274: 31667274
15 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
16 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 GRCh38 Chromosome 21, 31667298: 31667298
17 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 GRCh37 Chromosome 21, 33039612: 33039612
18 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 GRCh38 Chromosome 21, 31667299: 31667299
19 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh37 Chromosome 21, 33039633: 33039633
20 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh38 Chromosome 21, 31667320: 31667320
21 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 GRCh37 Chromosome 21, 33039669: 33039669
22 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 GRCh38 Chromosome 21, 31667356: 31667356
23 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 GRCh37 Chromosome 21, 33032096: 33032096
24 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 GRCh38 Chromosome 21, 31659783: 31659783
25 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 GRCh37 Chromosome 21, 33036170: 33036170
26 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 GRCh38 Chromosome 21, 31663857: 31663857
27 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 GRCh37 Chromosome 21, 33032095: 33032095
28 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 GRCh38 Chromosome 21, 31659782: 31659782
29 SOD1 NM_000454.4(SOD1): c.272A> C (p.Asp91Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80265967 GRCh37 Chromosome 21, 33039603: 33039603
30 SOD1 NM_000454.4(SOD1): c.272A> C (p.Asp91Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs80265967 GRCh38 Chromosome 21, 31667290: 31667290
31 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 GRCh37 Chromosome 21, 33040860: 33040860
32 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 GRCh38 Chromosome 21, 31668547: 31668547
33 DCTN1 NM_004082.4(DCTN1): c.3302G> A (p.Arg1101Lys) single nucleotide variant risk factor rs121909345 GRCh38 Chromosome 2, 74363337: 74363337
34 DCTN1 NM_004082.4(DCTN1): c.3302G> A (p.Arg1101Lys) single nucleotide variant risk factor rs121909345 GRCh37 Chromosome 2, 74590464: 74590464
35 DCTN1 NM_001135041.2(DCTN1): c.1951C> T (p.Arg651Trp) single nucleotide variant Uncertain significance rs121909344 GRCh38 Chromosome 2, 74366896: 74366896
36 DCTN1 NM_001135041.2(DCTN1): c.1951C> T (p.Arg651Trp) single nucleotide variant Uncertain significance rs121909344 GRCh37 Chromosome 2, 74594023: 74594023
37 DCTN1 NM_004082.4(DCTN1): c.1712T> C (p.Met571Thr) single nucleotide variant risk factor rs121909343 GRCh38 Chromosome 2, 74368870: 74368870
38 DCTN1 NM_004082.4(DCTN1): c.1712T> C (p.Met571Thr) single nucleotide variant risk factor rs121909343 GRCh37 Chromosome 2, 74595997: 74595997
39 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh38 Chromosome 2, 74361590: 74361590
40 DCTN1 NM_001190836.1(DCTN1): c.3620C> T (p.Thr1207Ile) single nucleotide variant risk factor rs72466496 GRCh37 Chromosome 2, 74588717: 74588717
41 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh38 Chromosome 2, 74378104: 74378104
42 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 GRCh37 Chromosome 2, 74605231: 74605231
43 PRPH NM_006262.3(PRPH): c.421G> T (p.Asp141Tyr) single nucleotide variant Uncertain significance rs58599399 GRCh38 Chromosome 12, 49295621: 49295621
44 PRPH NM_006262.3(PRPH): c.421G> T (p.Asp141Tyr) single nucleotide variant Uncertain significance rs58599399 GRCh37 Chromosome 12, 49689404: 49689404
45 PRPH PRPH, 1-BP DEL, 228C deletion risk factor
46 NEFH NM_021076.3(NEFH): c.2057_2098del42 (p.Ala686_Lys699del) deletion risk factor rs606231212 GRCh38 Chromosome 22, 29489697: 29489738
47 NEFH NM_021076.3(NEFH): c.2057_2098del42 (p.Ala686_Lys699del) deletion risk factor rs606231212 GRCh37 Chromosome 22, 29885686: 29885727
48 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 GRCh37 Chromosome 21, 33040862: 33040862
49 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 GRCh38 Chromosome 21, 31668549: 31668549
50 SOD1 SOD1, IVS4AS, T-G, -10 single nucleotide variant Pathogenic

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

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Pathways related to Amyotrophic Lateral Sclerosis 1 according to KEGG:

38
# 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 38
Show member pathways
 11.39 NEFH PRPH SOD1
3
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.17 DCTN1 NEFH PRPH
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 lysosome GO:0005764 9.56 C9orf72 CHMP2B SOD1 SQSTM1
2 endosome GO:0005768 9.55 C9orf72 CHMP2B FIG4 OPTN SQSTM1
3 cytoplasmic vesicle GO:0031410 9.43 ANG C9orf72 OPTN SOD1 SQSTM1 UBQLN2
4 autophagosome GO:0005776 8.92 C9orf72 OPTN SQSTM1 UBQLN2

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

# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.43 CHMP2B SQSTM1 VCP
2 neuron cellular homeostasis GO:0070050 9.32 CHMP2B DCTN1
3 regulation of autophagosome assembly GO:2000785 9.16 C9orf72 UBQLN2
4 autophagy GO:0006914 9.1 C9orf72 CHMP2B OPTN SQSTM1 UBQLN2 VCP
5 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 CHMP2B DAO DCTN1
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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