Amyotrophic Lateral Sclerosis 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

About this section
46OMIM, 30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 32MedlinePlus, 2CDC, 61UMLS, 39NCIt, 56SNOMED-CT, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Amyotrophic Lateral Sclerosis 1:

Name: Amyotrophic Lateral Sclerosis 1 46 8 9 30 61
Amyotrophic Lateral Sclerosis 46 30 8 64 19 42 21 43 10 44 48 32 2 61
Als 8 64 42 21 48 2
Lou Gehrig's Disease 8 19 43 2
Lou Gehrig Disease 64 42 21 48
Charcot Disease 64 42 21 48
Amyotrophic Lateral Sclerosis Type 1 8 42 22
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 64 21
Amyotrophic Lateral Sclerosis with Dementia 21 61
Amyotrophic Lateral Sclerosis, with 20 22
Als1 8 42
Dementia with Amyotrophic Lateral Sclerosis 21
Familial Amyotrophic Lateral Sclerosis 64
Motor Neuron Disease, Bulbar 8
Fals 64


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 105400
Disease Ontology8 DOID:0060193, DOID:332
NCIt39 C34373
MeSH33 D000690
ICD9CM27 335.20
SNOMED-CT56 86044005
Orphanet48 803
MESH via Orphanet34 D000690
ICD10 via Orphanet26 G12.2
UMLS via Orphanet62 C0002736

Summaries for Amyotrophic Lateral Sclerosis 1

About this section
OMIM:46 Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain,... (105400) more...

MalaCards based summary: Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis, is related to lateral sclerosis and motor neuron disease, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and spasticity. An important gene associated with Amyotrophic Lateral Sclerosis 1 is SOD1 (superoxide dismutase 1, soluble), and among its related pathways are Translational Control and Phase I, non P450. The drug riluzole and the compounds Diethylthiophosphate and tumor necrosis factor alpha (tnf-alpha) inhibitors have been mentioned in the context of this disorder. Affiliated tissues include sod1 gene located in chromosome 21, brain and spinal cord, and related mouse phenotypes are immune system and hematopoietic system.

Disease Ontology:8 The most common type of familial als caused by mutation located in sod1 gene located in chromosome 21.

NIH Rare Diseases:42 Amyotrophic lateral sclerosis (als), also referred to as "lou gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. there are various types of als, which are distinguished by their signs and symptoms and their cause. early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). as the disease progresses, individuals become weaker are are eventually wheelchair-dependent. death often results from respiratory failure within 2 to 10 years after the onset of symptoms. most affected individuals have a sporadic (not inherited) form of als; about 5-10% have a familial (inherited) form of the condition. familial als may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. treatment is generally supportive. last updated: 1/7/2013

MedlinePlus:32 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:43 Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease or classical motor neuron disease, is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles.

Genetics Home Reference:21 Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that are important for controlling muscle movement and strength. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die over time, leading to problems with muscle control and movement.

GeneReviews summary for als-overview

Related Diseases for Amyotrophic Lateral Sclerosis 1

About this section

Diseases in the Amyotrophic Lateral Sclerosis 2, Juvenile family:

Amyotrophic Lateral Sclerosis 19 Amyotrophic Lateral Sclerosis 17
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 20
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8 amyotrophic lateral sclerosis 1
Amyotrophic Lateral Sclerosis Type 2 Amyotrophic Lateral Sclerosis Type 4
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 16 Amyotrophic Lateral Sclerosis Type 15
Tardbp-Related Amyotrophic Lateral Sclerosis Sod1-Related Amyotrophic Lateral Sclerosis
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis
Setx-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Optn-Related Amyotrophic Lateral Sclerosis Pfn1-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 2895)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis33.6TARDBP
2motor neuron disease32.1VCP, SQSTM1, TARDBP
3dementia32.0TARDBP, VCP, PON1, SQSTM1
4myopathy31.0VCP, FIG4
5aphasia30.9TARDBP, C9orf72, FUS
6liposarcoma30.7TARDBP, FUS
7alzheimer disease30.5SQSTM1, VCP, TARDBP, ERBB4, PON2, PON1
8dementia, frontotemporal30.3C9orf72, UBQLN2, VCP, TARDBP, SQSTM1, CHMP2B
9inclusion body myopathy with early-onset paget disease and frontotemporal dementia 130.0VCP
10prostate cancer30.0PON1, ANG, SQSTM1, HNRNPA1, ERBB4
11paget disease of bone29.9SQSTM1, VCP
12supranuclear palsy, progressive29.9FUS, TARDBP
13pick disease29.8TARDBP, SQSTM1
14coronary artery disease29.7PON1, PON3, PON2
15hypercholesterolemia, familial29.6PON2, PON1
17al amyloidosis10.9
18amyotrophic lateral sclerosis-parkinsonism/dementia complex10.9
19amyotrophic lateral sclerosis type 210.9
20muscular atrophy10.9
21amyotrophic lateral sclerosis type 410.8
23amyotrophic lateral sclerosis 810.8
24amyotrophic lateral sclerosis 10, with or without ftd10.8
25amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia10.8
27amyotrophic lateral sclerosis 1110.7
28amyotrophic lateral sclerosis 910.7
29progressive muscular atrophy10.7
30amyotrophic lateral sclerosis 1710.7
31amyotrophic lateral sclerosis 1810.7
32amyotrophic lateral sclerosis 310.7
33amyotrophic lateral sclerosis 710.7
34spinal muscular atrophy10.7
36amyotrophic lateral sclerosis 1210.7
37amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.7
38amyotrophic lateral sclerosis type 510.7
39hyperlipidemia type 310.7
40insulin-like growth factor i10.6
41amyotrophic lateral sclerosis 15, with or without frontotemporal dementia10.6
42multifocal motor neuropathy10.6
43amyotrophic lateral sclerosis 2110.6
45amyotrophic lateral sclerosis type 1410.6
46amyotrophic lateral sclerosis type 1510.6
48amyotrophic lateral sclerosis 2, juvenile10.6
49amyotrophic lateral sclerosis 1910.6
50amyotrophic lateral sclerosis 16, juvenile10.6

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

Diseases related to amyotrophic lateral sclerosis 1

Symptoms for Amyotrophic Lateral Sclerosis 1

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Amyotrophic Lateral Sclerosis 1:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 spasticity HP:0001257
4 muscle weakness HP:0001324
5 hyperreflexia HP:0001347
6 heterogeneous HP:0001425
7 degeneration of the lateral corticospinal tracts HP:0002314
8 fasciculations HP:0002380
9 degeneration of anterior horn cells HP:0002398
10 amyotrophy HP:0003202
11 muscle cramps HP:0003394
12 pseudobulbar paralysis HP:0007024
13 sleep apnea HP:0010535

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 1

About this section

Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis 1

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS61/NDF-RT40:

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.

Genetic Tests for Amyotrophic Lateral Sclerosis 1

About this section

Genetic tests related to Amyotrophic Lateral Sclerosis 1:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis20 22 VCP
2 Amyotrophic Lateral Sclerosis Multi-Gene Panels20
3 Amyotrophic Lateral Sclerosis Type 122

Anatomical Context for Amyotrophic Lateral Sclerosis 1

About this section

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

Brain, Spinal cord, Bone, Bone marrow, Skeletal muscle, Prostate, Testis, B cells

FMA organs/tissues related to Amyotrophic Lateral Sclerosis 1:

Sod1 gene located in chromosome 21

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:
id TissueAnatomical CompartmentCell Relevance
1 BoneBone MarrowBone Marrow Stromal Cells Potential therapeutic candidate
2 LimbPelvic GirdleBone Marrow Stromal Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
4 Neural TubeMotor Neural Progenitor DomainMotor Neural Progenitor Cells Potential therapeutic candidate
5 Neural TubeMotor Neural Progenitor DomainMotor Neurons Potential therapeutic candidate, affected by disease
6 BrainForebrain White MatterMyelinating Oligodendrocyte Cells Affected by disease
7 Spinal CordSpinal Cord White MatterMyelinating Oligodendrocyte Cells Affected by disease
8 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Amyotrophic Lateral Sclerosis 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.6PON2, PFN1, VCP, FIG4, SQSTM1, ERBB4
2MP:00053978.3FUS, PON2, PFN1, VCP, FIG4, SQSTM1
3MP:00053868.3DAO, FUS, PFN1, VCP, VAPB, FIG4
4MP:00036318.2DAO, FUS, PFN1, VCP, VAPB, FIG4
5MP:00053848.0TARDBP, FUS, PON3, PON2, PON1, PFN1

Publications for Amyotrophic Lateral Sclerosis 1

About this section

Variations for Amyotrophic Lateral Sclerosis 1

About this section

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

63 (show all 81)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis 1:

5 (show all 111)
id Gene Variation Type Significance SNP ID Assembly Location
1MATR3NM_199189.2(MATR3): c.344T> G (p.Phe115Cys)single nucleotide variantPathogenicGRCh38Chr 5, 139307759: 139307759
2MATR3NM_199189.2(MATR3): c.1864A> G (p.Thr622Ala)single nucleotide variantPathogenicGRCh38Chr 5, 139322683: 139322683
3MATR3NM_199189.2(MATR3): c.460C> T (p.Pro154Ser)single nucleotide variantPathogenicGRCh38Chr 5, 139307875: 139307875
4MATR3NM_199189.2(MATR3): c.254C> G (p.Ser85Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121434591GRCh37Chr 5, 138643358: 138643358
5SOD1NM_000454.4(SOD1): c.112G> A (p.Gly38Arg)single nucleotide variantPathogenicrs121912431GRCh37Chr 21, 33036142: 33036142
6SOD1NM_000454.4(SOD1): c.115C> G (p.Leu39Val)single nucleotide variantPathogenicrs121912432GRCh37Chr 21, 33036145: 33036145
7SOD1NM_000454.4(SOD1): c.124G> A (p.Gly42Ser)single nucleotide variantPathogenicrs121912433GRCh37Chr 21, 33036154: 33036154
8SOD1NM_000454.4(SOD1): c.125G> A (p.Gly42Asp)single nucleotide variantPathogenicrs121912434GRCh37Chr 21, 33036155: 33036155
9SOD1NM_000454.4(SOD1): c.131A> G (p.His44Arg)single nucleotide variantPathogenicrs121912435GRCh37Chr 21, 33036161: 33036161
10SOD1NM_000454.4(SOD1): c.319C> G (p.Leu107Val)single nucleotide variantPathogenicrs121912440GRCh37Chr 21, 33039650: 33039650
11SOD1NM_000454.4(SOD1): c.256G> C (p.Gly86Arg)single nucleotide variantPathogenicrs121912436GRCh37Chr 21, 33039587: 33039587
12SOD1NM_000454.4(SOD1): c.280G> T (p.Gly94Cys)single nucleotide variantPathogenicrs121912437GRCh37Chr 21, 33039611: 33039611
13SOD1NM_000454.4(SOD1): c.281G> C (p.Gly94Ala)single nucleotide variantPathogenicrs121912438GRCh37Chr 21, 33039612: 33039612
14SOD1NM_000454.4(SOD1): c.302A> G (p.Glu101Gly)single nucleotide variantPathogenicrs121912439GRCh37Chr 21, 33039633: 33039633
15SOD1NM_000454.4(SOD1): c.338T> C (p.Ile113Thr)single nucleotide variantPathogenicrs74315452GRCh37Chr 21, 33039669: 33039669
16SOD1NM_000454.4(SOD1): c.14C> T (p.Ala5Val)single nucleotide variantPathogenicrs121912442GRCh37Chr 21, 33032096: 33032096
17SOD1NM_000454.4(SOD1): c.140A> G (p.His47Arg)single nucleotide variantPathogenicrs121912443GRCh37Chr 21, 33036170: 33036170
18SOD1NM_000454.4(SOD1): c.13G> A (p.Ala5Thr)single nucleotide variantPathogenicrs121912444GRCh37Chr 21, 33032095: 33032095
19SOD1NM_000454.4(SOD1): c.272A> C (p.Asp91Ala)single nucleotide variantPathogenicrs80265967GRCh37Chr 21, 33039603: 33039603
20SOD1NM_000454.4(SOD1): c.434T> C (p.Leu145Ser)single nucleotide variantPathogenicrs121912446GRCh37Chr 21, 33040860: 33040860
21SOD1NM_000454.4(SOD1): c.436G> A (p.Ala146Thr)single nucleotide variantPathogenicrs121912447GRCh37Chr 21, 33040862: 33040862
22SOD1SOD1, IVS4AS, T-G, -10single nucleotide variantPathogenic
23SOD1NM_000454.4(SOD1): c.20G> T (p.Cys7Phe)single nucleotide variantPathogenicrs121912448GRCh37Chr 21, 33032102: 33032102
24SOD1NM_000454.4(SOD1): c.455T> C (p.Ile152Thr)single nucleotide variantPathogenicrs121912449GRCh37Chr 21, 33040881: 33040881
25SOD1NM_000454.4(SOD1): c.64G> A (p.Glu22Lys)single nucleotide variantPathogenicrs121912450GRCh37Chr 21, 33032146: 33032146
26SOD1NM_000454.4(SOD1): c.404G> A (p.Ser135Asn)single nucleotide variantPathogenicrs121912451GRCh37Chr 21, 33040830: 33040830
27SOD1NM_000454.4(SOD1): c.253T> G (p.Leu85Val)single nucleotide variantPathogenicrs121912452GRCh37Chr 21, 33039584: 33039584
28SOD1NM_000454.4(SOD1): c.49G> A (p.Gly17Ser)single nucleotide variantPathogenicrs121912453GRCh37Chr 21, 33032131: 33032131
29SOD1NM_000454.4(SOD1): c.380T> A (p.Leu127Ter)single nucleotide variantPathogenicrs121912454GRCh37Chr 21, 33040806: 33040806
30SOD1SOD1, IVS4AS, A-G, -11single nucleotide variantPathogenic
31SOD1NM_000454.4(SOD1): c.217G> A (p.Gly73Ser)single nucleotide variantPathogenicrs121912455GRCh37Chr 21, 33038809: 33038809
32SOD1NM_000454.4(SOD1): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs121912456GRCh37Chr 21, 33032119: 33032119
33SOD1NM_000454.4(SOD1): c.137T> G (p.Phe46Cys)single nucleotide variantPathogenicrs121912457GRCh37Chr 21, 33036167: 33036167
34SOD1NM_000454.4(SOD1): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121912458GRCh37Chr 21, 33039573: 33039573
35SOD1NM_000454.4(SOD1): c.280G> C (p.Gly94Arg)single nucleotide variantPathogenicrs121912437GRCh37Chr 21, 33039611: 33039611
36SOD1SOD1, 6-BP DEL, GGACCAdeletionPathogenic
37SOD1SOD1, IVS4AS, C-G, -304single nucleotide variantPathogenic
38FUSNM_004960.3(FUS): c.1561C> G (p.Arg521Gly)single nucleotide variantPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
39FUSNM_004960.3(FUS): c.1553G> A (p.Arg518Lys)single nucleotide variantPathogenicrs121909669GRCh37Chr 16, 31202731: 31202731
40FUSNM_004960.3(FUS): c.1561C> T (p.Arg521Cys)single nucleotide variantPathogenicrs121909668GRCh37Chr 16, 31202739: 31202739
41FUSNM_004960.3(FUS): c.1562G> A (p.Arg521His)single nucleotide variantPathogenicrs121909671GRCh37Chr 16, 31202740: 31202740
42FUSNM_004960.3(FUS): c.1520G> A (p.Gly507Asp)single nucleotide variantPathogenicrs267606831GRCh37Chr 16, 31202410: 31202410
43FUSNM_004960.3(FUS): c.1570A> T (p.Arg524Trp)single nucleotide variantPathogenicrs267606833GRCh37Chr 16, 31202748: 31202748
44CHMP2BNM_014043.3(CHMP2B): c.618A> C (p.Gln206His)single nucleotide variantPathogenicrs63751126GRCh37Chr 3, 87302948: 87302948
45FIG4FIG4, IVS11DS, G-T, +5single nucleotide variantPathogenic
46FIG4NM_014845.5(FIG4): c.157G> T (p.Asp53Tyr)single nucleotide variantPathogenicrs121908290GRCh37Chr 6, 110036371: 110036371
47NM_001145.4(ANG): c.107A> T (p.Gln36Leu)single nucleotide variantPathogenicrs121909535GRCh37Chr 14, 21161830: 21161830
48NM_001145.4(ANG): c.122A> T (p.Lys41Ile)single nucleotide variantPathogenicrs121909536GRCh37Chr 14, 21161845: 21161845
49NM_001145.4(ANG): c.121A> G (p.Lys41Glu)single nucleotide variantPathogenicrs121909537GRCh37Chr 14, 21161844: 21161844
50NM_001145.4(ANG): c.164G> A (p.Arg55Lys)single nucleotide variantPathogenicrs121909538GRCh37Chr 14, 21161887: 21161887
51NM_001145.4(ANG): c.189C> G (p.Cys63Trp)single nucleotide variantPathogenicrs121909539GRCh37Chr 14, 21161912: 21161912
52NM_001145.4(ANG): c.191A> T (p.Lys64Ile)single nucleotide variantPathogenicrs121909540GRCh37Chr 14, 21161914: 21161914
53NM_001145.4(ANG): c.208A> G (p.Ile70Val)single nucleotide variantPathogenicrs121909541GRCh37Chr 14, 21161931: 21161931
54NM_001145.4(ANG): c.155G> A (p.Ser52Asn)single nucleotide variantPathogenicrs121909542GRCh37Chr 14, 21161878: 21161878
55NM_001145.4(ANG): c.407C> T (p.Pro136Leu)single nucleotide variantPathogenicrs121909543GRCh37Chr 14, 21162130: 21162130
56NM_001145.4(ANG): c.409G> A (p.Val137Ile)single nucleotide variantPathogenicrs121909544GRCh37Chr 14, 21162132: 21162132
57TARDBPNM_007375.3(TARDBP): c.*83T> Csingle nucleotide variantPathogenicrs80356744GRCh37Chr 1, 11082794: 11082794
58TARDBPNM_007375.3(TARDBP): c.1004G> A (p.Gly335Asp)single nucleotide variantPathogenicrs80356729GRCh37Chr 1, 11082470: 11082470
59TARDBPNM_007375.3(TARDBP): c.1035C> A (p.Asn345Lys)single nucleotide variantPathogenicrs80356732GRCh37Chr 1, 11082501: 11082501
60TARDBPNM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser)single nucleotide variantPathogenicrs80356734GRCh37Chr 1, 11082521: 11082521
61TARDBPNM_007375.3(TARDBP): c.1083G> T (p.Arg361Ser)single nucleotide variantPathogenicrs80356735GRCh37Chr 1, 11082549: 11082549
62TARDBPNM_007375.3(TARDBP): c.1097C> G (p.Ala366Gly)single nucleotide variantPathogenicrs80356736GRCh37Chr 1, 11082563: 11082563
63TARDBPNM_007375.3(TARDBP): c.1121dupA (p.Tyr374Terfs)duplicationPathogenicrs80356737GRCh37Chr 1, 11082587: 11082587
64TARDBPNM_007375.3(TARDBP): c.1135T> C (p.Ser379Pro)single nucleotide variantPathogenicrs80356738GRCh37Chr 1, 11082601: 11082601
65TARDBPNM_007375.3(TARDBP): c.1136C> G (p.Ser379Cys)single nucleotide variantPathogenicrs80356739GRCh37Chr 1, 11082602: 11082602
66TARDBPNM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
67TARDBPNM_007375.3(TARDBP): c.1144G> C (p.Ala382Pro)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
68TARDBPNM_007375.3(TARDBP): c.1147A> G (p.Ile383Val)single nucleotide variantPathogenicrs80356740GRCh37Chr 1, 11082613: 11082613
69TARDBPNM_007375.3(TARDBP): c.1168A> G (p.Asn390Asp)single nucleotide variantPathogenicrs80356741GRCh37Chr 1, 11082634: 11082634
70TARDBPNM_007375.3(TARDBP): c.1169A> G (p.Asn390Ser)single nucleotide variantPathogenicrs80356742GRCh37Chr 1, 11082635: 11082635
71TARDBPNM_007375.3(TARDBP): c.1178C> T (p.Ser393Leu)single nucleotide variantPathogenicrs80356743GRCh37Chr 1, 11082644: 11082644
72TARDBPNM_007375.3(TARDBP): c.800A> G (p.Asn267Ser)single nucleotide variantPathogenicrs80356718GRCh37Chr 1, 11082266: 11082266
73TARDBPNM_007375.3(TARDBP): c.859G> A (p.Gly287Ser)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
74TARDBPNM_007375.3(TARDBP): c.881G> T (p.Gly294Val)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
75TARDBPNM_007375.3(TARDBP): c.883G> A (p.Gly295Ser)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
76TARDBPNM_007375.3(TARDBP): c.883G> C (p.Gly295Arg)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
77TARDBPNM_007375.3(TARDBP): c.931A> G (p.Met311Val)single nucleotide variantPathogenicrs80356725GRCh37Chr 1, 11082397: 11082397
78TARDBPNM_007375.3(TARDBP): c.995G> A (p.Ser332Asn)single nucleotide variantPathogenicrs80356728GRCh37Chr 1, 11082461: 11082461
79CHMP2BNM_014043.3(CHMP2B): c.85A> G (p.Ile29Val)single nucleotide variantPathogenicrs63750818GRCh37Chr 3, 87289899: 87289899
80FUSNM_004960.3(FUS): c.1483C> T (p.Arg495Ter)single nucleotide variantPathogenicrs387906627GRCh37Chr 16, 31202373: 31202373
81FUSNM_004960.3(FUS): c.616G> A (p.Gly206Ser)single nucleotide variantPathogenicrs387906628GRCh37Chr 16, 31196352: 31196352
82UBQLN2NM_013444.3(UBQLN2): c.1490C> A (p.Pro497His)single nucleotide variantPathogenicrs387906709GRCh37Chr X, 56591796: 56591796
83UBQLN2NM_013444.3(UBQLN2): c.1489C> T (p.Pro497Ser)single nucleotide variantPathogenicrs387906710GRCh37Chr X, 56591795: 56591795
84UBQLN2NM_013444.3(UBQLN2): c.1516C> A (p.Pro506Thr)single nucleotide variantPathogenicrs387906711GRCh37Chr X, 56591822: 56591822
85UBQLN2NM_013444.3(UBQLN2): c.1525C> T (p.Pro509Ser)single nucleotide variantPathogenicrs387906712GRCh37Chr X, 56591831: 56591831
86UBQLN2NM_013444.3(UBQLN2): c.1573C> T (p.Pro525Ser)single nucleotide variantPathogenicrs369947678GRCh37Chr X, 56591879: 56591879
87VCPNM_007126.3(VCP): c.475C> G (p.Arg159Gly)single nucleotide variantPathogenicrs387906789GRCh37Chr 9, 35065349: 35065349
88VAPBNM_004738.4(VAPB): c.137C> T (p.Thr46Ile)single nucleotide variantPathogenicrs281875284GRCh37Chr 20, 56993345: 56993345
89CHMP2BNM_014043.3(CHMP2B): c.311C> A (p.Thr104Asn)single nucleotide variantPathogenicrs281864934GRCh37Chr 3, 87295048: 87295048
90PFN1NM_005022.3(PFN1): c.211T> G (p.Cys71Gly)single nucleotide variantPathogenicrs387907264GRCh37Chr 17, 4850037: 4850037
91PFN1NM_005022.3(PFN1): c.341T> C (p.Met114Thr)single nucleotide variantPathogenicrs387907265GRCh37Chr 17, 4849277: 4849277
92PFN1NM_005022.3(PFN1): c.353G> T (p.Gly118Val)single nucleotide variantPathogenicrs387907266GRCh37Chr 17, 4849265: 4849265
93PFN1NM_005022.3(PFN1): c.350A> G (p.Glu117Gly)single nucleotide variantPathogenicrs140547520GRCh37Chr 17, 4849268: 4849268
94TARDBPNM_007375.3(TARDBP): c.859G> C (p.Gly287Arg)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
95TARDBPNM_007375.3(TARDBP): c.1009A> G (p.Met337Val)single nucleotide variantPathogenicrs80356730GRCh37Chr 1, 11082475: 11082475
96TARDBPNM_007375.3(TARDBP): c.991C> A (p.Gln331Lys)single nucleotide variantPathogenicrs80356727GRCh37Chr 1, 11082457: 11082457
97TARDBPNM_007375.3(TARDBP): c.881G> C (p.Gly294Ala)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
98TARDBPNM_007375.3(TARDBP): c.869G> C (p.Gly290Ala)single nucleotide variantPathogenicrs121908395GRCh37Chr 1, 11082335: 11082335
99TARDBPNM_007375.3(TARDBP): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs4884357GRCh37Chr 1, 11082358: 11082358
100TARDBPNM_007375.3(TARDBP): c.506A> G (p.Asp169Gly)single nucleotide variantPathogenicrs80356717GRCh37Chr 1, 11078893: 11078893
101TARDBPNM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys)single nucleotide variantPathogenicrs80356733GRCh37Chr 1, 11082508: 11082508
102TARDBPNM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg)single nucleotide variantPathogenicrs80356731GRCh37Chr 1, 11082494: 11082494
103TARDBPNM_007375.3(TARDBP): c.943G> A (p.Ala315Thr)single nucleotide variantPathogenicrs80356726GRCh37Chr 1, 11082409: 11082409
104TARDBPNM_007375.3(TARDBP): c.*697G> Asingle nucleotide variantPathogenicrs387906334GRCh37Chr 1, 11083408: 11083408
105ERBB4NM_005235.2(ERBB4): c.2780G> A (p.Arg927Gln)single nucleotide variantPathogenicrs397514262GRCh37Chr 2, 212288966: 212288966
106ERBB4NM_005235.2(ERBB4): c.3823C> T (p.Arg1275Trp)single nucleotide variantPathogenicrs397514263GRCh37Chr 2, 212248444: 212248444
107HNRNPA1NM_031157.2(HNRNPA1): c.940G> A (p.Asp314Asn)single nucleotide variantPathogenicrs397518453GRCh37Chr 12, 54677628: 54677628
108HNRNPA1NM_031157.2(HNRNPA1): c.956A> G (p.Asn319Ser)single nucleotide variantPathogenicrs397518454GRCh37Chr 12, 54677644: 54677644
109OPTNOPTN, DEL EXON 5deletionPathogenic
110OPTNNM_001008211.1(OPTN): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs267606928GRCh37Chr 10, 13167989: 13167989
111OPTNNM_001008211.1(OPTN): c.1433A> G (p.Glu478Gly)single nucleotide variantPathogenicrs267606929GRCh37Chr 10, 13174098: 13174098

Expression for genes affiliated with Amyotrophic Lateral Sclerosis 1

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Amyotrophic Lateral Sclerosis 1 patients vs. healthy controls: 30 (show all 16)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MICAL2microtubule associated monooxygenase, calponin and LIM domain containing 2Brain-7.640.000
2DYNC1I1dynein, cytoplasmic 1, intermediate chain 1Brain-7.380.000
3RPH3Arabphilin 3A homolog (mouse)Brain-7.380.000
4ATP2B1ATPase, Ca++ transporting, plasma membrane 1Brain-7.160.000
5ELMOD1ELMO/CED-12 domain containing 1Brain-7.160.000
6NELL2NEL-like 2 (chicken)Brain-7.160.000
7RASGRF1Ras protein-specific guanine nucleotide-releasing factor 1Brain-7.160.000
8CAMKK2calcium/calmodulin-dependent protein kinase kinase 2, betaBrain-6.970.000
9ICAM5intercellular adhesion molecule 5, telencephalinBrain-6.970.000
10PAK1p21 protein (Cdc42/Rac)-activated kinase 1Brain-6.970.000
11PDE2Aphosphodiesterase 2A, cGMP-stimulatedBrain-6.970.000
12PI4KAphosphatidylinositol 4-kinase, catalytic, alphaBrain-6.800.000
13PREPLprolyl endopeptidase-likeBrain-6.800.000
14SLIT1slit homolog 1 (Drosophila)Brain-6.800.000
15WBSCR17Williams-Beuren syndrome chromosome region 17Brain-6.800.000
16CLSTN3calsyntenin 3Brain-6.640.000

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 1.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis 1

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
29.4PON1, PON2, PON3

Compounds for genes affiliated with Amyotrophic Lateral Sclerosis 1

About this section
24HMDB, 50PharmGKB, 44Novoseek, 11DrugBank
See all sources

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1Diethylthiophosphate2410.0PON3, PON2
2tumor necrosis factor alpha (tnf-alpha) inhibitors509.9PON1, C9orf72
34-Nitrophenol249.8PON2, PON3
4hydroquinone44 2410.8PON2, PON3
5paraoxon44 2410.7PON1, PON2, PON3
6Propyl alcohol249.7PON3, PON2, PON1
7Isopropyl alcohol249.7PON3, PON2, PON1
8phenylacetate449.7PON1, PON3
9Isobutanol249.7PON3, PON2, PON1
101-Pentanol249.7PON3, PON2, PON1
111-Hexanol249.6PON3, PON2, PON1
121-Butanol249.6PON3, PON2, PON1
13parathion44 2410.6PON1, PON2, PON3
14ethanol44 50 24 1112.3PON3, PON2, PON1, ERBB4
15phenol44 2410.3PON1, PON2, PON3, DAO
16oxygen44 249.6DAO, PON2, ANG, SQSTM1, ERBB4

GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis 1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1autophagic vacuoleGO:00057769.9SQSTM1, C9orf72
2lysosomeGO:00057649.5C9orf72, PON2, SQSTM1
3nucleoplasmGO:00056549.4OPTN, ERBB4, SQSTM1, HNRNPA1, FUS
4extracellular vesicular exosomeGO:00700629.1PON3, PFN1, VCP, CHMP2B, HNRNPA1, SQSTM1
5nucleolusGO:00057309.1FUS, VCP, ANG, MATR3, HNRNPA1, TARDBP
6cytosolGO:00058298.4DAO, PFN1, VCP, CHMP2B, SQSTM1, ERBB4
7nucleusGO:00056347.7TARDBP, FUS, C9orf72, PON2, PFN1, VCP

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

idNameGO IDScoreTop Affiliating Genes
1response to external stimulusGO:00096059.8PON1, PON3
2carboxylic acid catabolic processGO:00463959.5PON1, PON3
3aromatic compound catabolic processGO:00194399.3PON3, PON2, PON1
4cell deathGO:00082198.0TARDBP, FUS, C9orf72, PFN1, CHMP2B, VAPB

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1aryldialkylphosphatase activityGO:00040639.9PON1, PON3
2nucleotide bindingGO:00001669.7TARDBP, HNRNPA1, MATR3, FUS
3arylesterase activityGO:00040649.6PON1, PON2, PON3
4identical protein bindingGO:00428029.3FUS, PON2, VCP, SQSTM1, TARDBP
5poly(A) RNA bindingGO:00448229.2FUS, PFN1, VCP, MATR3, HNRNPA1, TARDBP
6receptor bindingGO:00051029.2DAO, PFN1, VCP, ANG
7protein homodimerization activityGO:00428038.8PON3, PON1, VAPB, SQSTM1, ERBB4
8protein bindingGO:00055157.0VAPB, VCP, PFN1, C9orf72, FUS, DAO

Sources for Amyotrophic Lateral Sclerosis 1

About this section
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet