Details of Disease

General Information of Disease (ID: DIS5A2M0)

Disease Name Amyotrophic lateral sclerosis type 1
Synonyms
amyotrophic lateral sclerosis, sporadic, included; amyotrophic lateral sclerosis 1, autosomal dominant; amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included; FALS; amyotrophic lateral sclerosis, familial; amyotrophic lateral sclerosis, autosomal dominant; amyotrophic lateral sclerosis 1, familial; amyotrophic lateral sclerosis, susceptibility to; amyotrophic lateral sclerosis 1, autosomal recessive; amyotrophic lateral sclerosis, sporadic; ALS1; amyotrophic lateral sclerosis type 1; amyotrophic lateral sclerosis 1
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DIS5A2M0: Amyotrophic lateral sclerosis type 1
Disease Identifiers
MONDO ID
MONDO_0007103
MESH ID
C531617
UMLS CUI
C1862939
OMIM ID
105400
MedGen ID
400169
SNOMED CT ID
1201863001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 40 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCG1 TTMWDGU Limited Genetic Variation [1]
ERBB4 TTWALCO Limited Genetic Variation [1]
FUS TTKGYZ9 Limited Biomarker [2]
IDE TT2EDHU Limited Genetic Variation [3]
MOBP TTYUK4F Limited Genetic Variation [4]
OLFM4 TTK1CX7 Limited Genetic Variation [1]
BCL2L1 TTRE6AX Strong Biomarker [5]
BSG TT5UJWD Strong Biomarker [5]
C9orf72 TTA4SHR Strong Genetic Variation [6]
CASP1 TTCQIBE Strong Biomarker [7]
CASP4 TT6KIOT Strong Biomarker [8]
CD7 TTP6B8O Strong Biomarker [5]
CLU TTRL76H Strong Biomarker [5]
CNTF TTGEM5Q Strong Biomarker [9]
CREBBP TTFRCTK Strong Biomarker [5]
CTSD TTPT2QI Strong Biomarker [5]
DNAJB1 TTPXAWS Strong Biomarker [10]
FKBP10 TT4P8O2 Strong Biomarker [11]
FKBP1A TTMW94E Strong Biomarker [11]
FKBP7 TTO1ENI Strong Biomarker [11]
FOS TTOM5AU Strong Biomarker [5]
GABRA1 TT1MPAY Strong Biomarker [5]
GFAP TTI6FFX Strong Biomarker [5]
GRIA3 TT82EZV Strong Biomarker [12]
HSF1 TTN6STZ Strong Therapeutic [13]
JAK3 TTT7PJU Strong Biomarker [5]
KIF5A TTCJPAH Strong Biomarker [14]
LDLR TTH0DUS Strong Biomarker [5]
MTNR1A TT0WAIE Strong Biomarker [15]
MTNR1B TT32JK8 Strong Biomarker [15]
PDGFA TTSM78N Strong Biomarker [5]
PON1 TT9LX82 Strong Biomarker [16]
RXRA TT6PEUO Strong Biomarker [5]
SELPLG TTS5K8U Strong Biomarker [5]
TIAM1 TTNU6I5 Strong Biomarker [17]
TMPRSS6 TTL9KE7 Strong Biomarker [15]
TMSB4X TTMVAIU Strong Biomarker [5]
VCP TTHNLSB Strong Genetic Variation [18]
WNT7A TT8NARC Strong Biomarker [5]
XIAP TTK3WBU Strong Biomarker [7]
------------------------------------------------------------------------------------
⏷ Show the Full List of 40 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A12 DT85HYR Limited Genetic Variation [1]
SLC9A9 DT8LP62 Limited Genetic Variation [3]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FMO1 DEJ73Q9 Strong Biomarker [19]
SOD1 DEUTDON Definitive Autosomal dominant [20]
------------------------------------------------------------------------------------
This Disease Is Related to 66 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADGRD1 OT0PVQCW Limited Genetic Variation [1]
ANK3 OTJ3IRBP Limited Genetic Variation [1]
CAMTA1 OTAN1S5B Limited Genetic Variation [3]
CLVS1 OTQH008A Limited Genetic Variation [1]
CTNND2 OTYKE30Y Limited Genetic Variation [1]
HOXD10 OT0NOWU2 Limited Genetic Variation [1]
IGFALS OTTWCZYM Limited Genetic Variation [21]
INPP4B OTLROA7G Limited Genetic Variation [1]
ITGA9 OTHN1IKA Limited Genetic Variation [1]
KCNMB2 OTBXUQGK Limited Genetic Variation [1]
MASP1 OTWWCNZP Limited Genetic Variation [1]
METTL21A OTXJTNXY Limited Genetic Variation [1]
OPCML OT93PQ6Y Limited Genetic Variation [1]
PSD3 OTTN9B9O Limited Genetic Variation [3]
SARM1 OTEP4I5O Limited Genetic Variation [4]
SERPINA3 OT9BP2S0 Limited Biomarker [5]
SS18L1 OT9ZEGV7 moderate Biomarker [22]
ALG1 OTVXPA9E Strong Biomarker [15]
ARHGEF28 OT3F32IU Strong Genetic Variation [23]
CALB2 OTSNMCG9 Strong Biomarker [5]
CD68 OTOYEY3J Strong Biomarker [5]
CHCHD10 OTCDHAM6 Strong Genetic Variation [24]
CHMP2B OTZA7RJB Strong Biomarker [25]
CST3 OTNZ6AO4 Strong Biomarker [5]
CTRL OTB6NA5O Strong Altered Expression [26]
DBX1 OTEBZXLT Strong Biomarker [5]
DCTN1 OT5B51FJ Strong Autosomal dominant [27]
FAM20C OTW5YZ7X Strong Biomarker [28]
FGF6 OTRJ679P Strong Biomarker [5]
FIG4 OT501PY9 Strong Genetic Variation [29]
FKBP11 OTY2GC67 Strong Biomarker [11]
FKBP14 OT55W5WC Strong Biomarker [11]
FKBP1B OT8CMPB2 Strong Biomarker [11]
FKBP2 OTHBZHX0 Strong Biomarker [11]
FKBP3 OT7ETKPE Strong Biomarker [11]
FKBP6 OTDFQV81 Strong Biomarker [11]
FKBP8 OT8RPSOC Strong Biomarker [11]
FKBP9 OTGRFVKZ Strong Biomarker [11]
GBX2 OTW0ZI4D Strong Biomarker [5]
GDI1 OTYM3928 Strong Biomarker [5]
GSX2 OTLA7BAI Strong Biomarker [5]
INA OT1D33T4 Strong Biomarker [5]
JUND OTNKACJD Strong Biomarker [5]
KIF3C OTTXKIWA Strong Biomarker [5]
KIFAP3 OT450PAO Strong Biomarker [30]
KIFC3 OTOPD4QO Strong Biomarker [14]
LAT OTZC1XZ1 Strong Biomarker [5]
MATR3 OTESJ5S7 Strong Biomarker [31]
MT1B OTUA4FFH Strong Biomarker [15]
MT1F OTZVUYG1 Strong Biomarker [15]
MT1G OTAV1OCR Strong Biomarker [15]
MT1H OT0MVBM6 Strong Biomarker [15]
MT1M OTVT8PLU Strong Biomarker [15]
MT1X OT9AKFVS Strong Biomarker [15]
NKTR OTIADJNW Strong Biomarker [11]
OPTN OT2UXWH9 Strong Genetic Variation [32]
OTOG OT5U4SVN Strong Biomarker [5]
PENK OT8P3HMP Strong Biomarker [5]
PRRX2 OT8UR4AU Strong Genetic Variation [33]
PTS OTTYWQXR Strong Genetic Variation [34]
SHC1 OT1J5IRN Strong Biomarker [5]
SIX2 OTYOVGSC Strong Biomarker [5]
SNAI1 OTDPYAMC Strong Biomarker [5]
TAF15 OTNE038N Strong Genetic Variation [35]
TLE3 OTR9PH95 Strong Biomarker [5]
SOD1 OT39TA1L Definitive Autosomal dominant [20]
------------------------------------------------------------------------------------
⏷ Show the Full List of 66 DOT(s)

References

1 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.Neurobiol Aging. 2014 Jul;35(7):1778.e9-1778.e23. doi: 10.1016/j.neurobiolaging.2014.01.014. Epub 2014 Jan 17.
2 Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.Muscle Nerve. 2016 Sep;54(3):398-404. doi: 10.1002/mus.25061. Epub 2016 Feb 23.
3 Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.
4 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.Nat Commun. 2017 Sep 20;8(1):611. doi: 10.1038/s41467-017-00471-1.
5 Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis.J Neurochem. 2002 Jan;80(1):158-67. doi: 10.1046/j.0022-3042.2001.00683.x.
6 Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress.Neurobiol Dis. 2018 Aug;116:155-165. doi: 10.1016/j.nbd.2018.05.009. Epub 2018 May 22.
7 X-Linked inhibitor of apoptosis protein is involved in mutant SOD1-mediated neuronal degeneration.J Neurochem. 2002 Aug;82(3):576-84. doi: 10.1046/j.1471-4159.2002.00998.x.
8 Familial amyotrophic lateral sclerosis (FALS)-linked SOD1 mutation accelerates neuronal cell death by activating cleavage of caspase-4 under ER stress in an in vitro model of FALS.Neurochem Int. 2010 Dec;57(7):838-43. doi: 10.1016/j.neuint.2010.08.023. Epub 2010 Sep 21.
9 Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.Am J Hum Genet. 2002 May;70(5):1277-86. doi: 10.1086/340427. Epub 2002 Apr 9.
10 Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1.Brain Res. 2002 Sep 13;949(1-2):11-22. doi: 10.1016/s0006-8993(02)02568-4.
11 The role of immunophilins in mutant superoxide dismutase-1linked familial amyotrophic lateral sclerosis.Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):3251-6. doi: 10.1073/pnas.96.6.3251.
12 Antisense peptide nucleic acid targeting GluR3 delays disease onset and progression in the SOD1 G93A mouse model of familial ALS.J Neurosci Res. 2004 Aug 15;77(4):573-82. doi: 10.1002/jnr.20191.
13 Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis.Mol Neurodegener. 2013 Nov 21;8:43. doi: 10.1186/1750-1326-8-43.
14 Kinesin expression in the central nervous system of humans and transgenic hSOD1G93A mice with amyotrophic lateral sclerosis.Neurodegener Dis. 2013;12(2):71-80. doi: 10.1159/000339529. Epub 2012 Sep 21.
15 Reduction of metallothioneins promotes the disease expression of familial amyotrophic lateral sclerosis mice in a dose-dependent manner.Eur J Neurosci. 2001 Apr;13(7):1363-70. doi: 10.1046/j.0953-816x.2001.01512.x.
16 A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis.Neurotoxicology. 2007 May;28(3):532-40. doi: 10.1016/j.neuro.2006.11.007. Epub 2006 Nov 26.
17 TIAM1 inhibits lung fibroblast differentiation in pulmonary fibrosis.Exp Ther Med. 2017 Nov;14(5):4254-4262. doi: 10.3892/etm.2017.5024. Epub 2017 Aug 24.
18 VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.J Neurol Sci. 2015 Feb 15;349(1-2):209-13. doi: 10.1016/j.jns.2015.01.021. Epub 2015 Jan 17.
19 Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis.Amyotroph Lateral Scler. 2006 Dec;7(4):227-34. doi: 10.1080/17482960600864413.
20 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
21 Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.Neurobiol Aging. 2017 Oct;58:238.e9-238.e15. doi: 10.1016/j.neurobiolaging.2017.06.007. Epub 2017 Jun 20.
22 Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.Neurobiol Aging. 2014 May;35(5):1213.e9-1213.e12. doi: 10.1016/j.neurobiolaging.2013.11.023. Epub 2013 Dec 3.
23 Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):444-51. doi: 10.3109/21678421.2012.758288. Epub 2013 Jan 4.
24 Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.Mol Neurobiol. 2017 Jul;54(5):3189-3194. doi: 10.1007/s12035-016-9888-0. Epub 2016 Apr 7.
25 FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.Neurobiol Aging. 2011 Mar;32(3):553.e13-21. doi: 10.1016/j.neurobiolaging.2010.04.009. Epub 2010 May 15.
26 Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis.J Neurol Sci. 1996 Jul;139(1):15-20.
27 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
28 Interplay of Cu,Zn superoxide dismutase and nitric oxide synthase in neurodegenerative processes.IUBMB Life. 2003 Oct-Nov;55(10-11):629-34. doi: 10.1080/15216540310001628717.
29 Novel FIG4 mutations in Yunis-Varon syndrome.J Hum Genet. 2013 Dec;58(12):822-4. doi: 10.1038/jhg.2013.104. Epub 2013 Oct 3.
30 Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3.Hum Mol Genet. 2009 Mar 1;18(5):942-55. doi: 10.1093/hmg/ddn422. Epub 2008 Dec 16.
31 The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins.Cell Death Differ. 2017 Oct;24(10):1655-1671. doi: 10.1038/cdd.2017.88. Epub 2017 Jun 16.
32 Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.Neurobiol Aging. 2012 May;33(5):1016.e1-7. doi: 10.1016/j.neurobiolaging.2011.05.019. Epub 2011 Jul 28.
33 Histological evidence of redox system breakdown caused by superoxide dismutase 1 (SOD1) aggregation is common to SOD1-mutated motor neurons in humans and animal models.Acta Neuropathol. 2004 Feb;107(2):149-58. doi: 10.1007/s00401-003-0791-1. Epub 2003 Nov 27.
34 Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regions.Hum Mol Genet. 2002 Jan 1;11(1):13-21. doi: 10.1093/hmg/11.1.13.
35 Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):285-90. doi: 10.1002/ajmg.b.31158. Epub 2011 Jan 13.