ALS12
MCID: AMY081
MIFTS: 29

Amyotrophic Lateral Sclerosis Type 12 (ALS12)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis Type 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis Type 12:

Name: Amyotrophic Lateral Sclerosis Type 12 12 29 6 15
Amyotrophic Lateral Sclerosis 12 12 70
Sclerosis, Lateral, Amyotrophic, Type Type 12 39
Als12 12

Classifications:



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Disease Ontology 12 DOID:0060203
UMLS 70 C3150692

Summaries for Amyotrophic Lateral Sclerosis Type 12

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10.

MalaCards based summary : Amyotrophic Lateral Sclerosis Type 12, also known as amyotrophic lateral sclerosis 12, is related to amyotrophic lateral sclerosis 12 with or without frontotemporal dementia and neuronopathy, distal hereditary motor, type iia. An important gene associated with Amyotrophic Lateral Sclerosis Type 12 is OPTN (Optineurin), and among its related pathways/superpathways is Pathways of neurodegeneration - multiple diseases. Affiliated tissues include brain.

Related Diseases for Amyotrophic Lateral Sclerosis Type 12

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 16, Juvenile 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 12
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 Type 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 32.5 OPTN LOC108903148
2 neuronopathy, distal hereditary motor, type iia 10.3 CRYAA ALS2
3 spinal muscular atrophy with lower extremity predominance 10.3 VAPB SETX
4 glaucoma, normal tension 10.2 OPTN LOC108903148 CRYAA
5 spastic paraplegia 57, autosomal recessive 10.2 SPG11 ALS2
6 proximal spinal muscular atrophy 10.2 VAPB SETX
7 glaucoma, primary open angle 10.2 OPTN LOC108903148 CRYAA
8 phacogenic glaucoma 10.1 OPTN CRYAA
9 amyotrophic lateral sclerosis 20 10.1 SOD1 FIG4 ALS2
10 spastic paraplegia 7, autosomal recessive 10.1 SPG11 SETX
11 distal hereditary motor neuronopathy type 7 10.1 TARDBP ALS2
12 amyotrophic lateral sclerosis type 22 10.1 TARDBP FUS
13 ideomotor apraxia 10.1 TARDBP FUS
14 neuronopathy, distal hereditary motor, type viib 10.1 TARDBP ALS2
15 pica disease 10.1 TARDBP FUS
16 semantic dementia 10.0 TARDBP CHMP2B
17 prosopagnosia 10.0 TARDBP CHMP2B
18 open-angle glaucoma 10.0 SOD1 OPTN LOC108903148 CRYAA
19 juvenile amyotrophic lateral sclerosis 10.0 SPG11 SETX FUS ALS2
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.0 TARDBP FUS
21 amyotrophic lateral sclerosis 21 10.0 VAPB SETX FUS FIG4 ALS2
22 cerebellar disease 10.0 SOD1 SETX FUS
23 ophthalmomyiasis 10.0 TARDBP SOD1
24 dyscalculia 9.9 TARDBP CHMP2B
25 associative agnosia 9.9 TARDBP FUS CHMP2B
26 nominal aphasia 9.9 TARDBP FUS CHMP2B
27 dysgraphia 9.9 TARDBP FUS CHMP2B
28 writing disorder 9.9 TARDBP FUS CHMP2B
29 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 9.9 TARDBP FUS CHMP2B
30 spastic paraplegia 13, autosomal dominant 9.9 SPG11 CRYAA
31 muscular atrophy 9.9 VAPB TARDBP SETX FUS
32 progressive bulbar palsy 9.9 VAPB SOD1 SETX FUS ALS2
33 locked-in syndrome 9.9 TARDBP SOD1 FUS
34 charcot-marie-tooth disease, axonal, type 2e 9.8 SPG11 SOD1 FIG4 ALS2
35 aphasia 9.8 TARDBP OPTN FUS CHMP2B
36 spinal and bulbar muscular atrophy, x-linked 1 9.8 TARDBP SOD1 FUS CRYAA
37 speech and communication disorders 9.7 TARDBP FUS CHMP2B
38 multisystem proteinopathy 9.7 UBQLN2 TARDBP OPTN FUS
39 supranuclear palsy, progressive, 1 9.7 TARDBP SOD1 FUS CHMP2B
40 dementia, lewy body 9.7 TARDBP SOD1 FUS CHMP2B
41 charcot-marie-tooth disease 9.7 SPG11 SOD1 SETX FIG4 CRYAA ALS2
42 alzheimer disease 7 9.7 VAPB TARDBP SOD1 OPTN FUS
43 spinal muscular atrophy 9.7 VAPB TARDBP SOD1 SETX FUS
44 movement disease 9.7 TARDBP FUS CHMP2B
45 amyotrophic lateral sclerosis 19 9.6 UBQLN2 TARDBP SOD1 ALS2
46 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.6 UBQLN2 TARDBP FUS CHMP2B
47 amyotrophic lateral sclerosis type 5 9.6 VAPB SPG11 SOD1 SETX ANG ALS2
48 dermatopathia pigmentosa reticularis 9.6 UBQLN2 TARDBP SOD1 FUS
49 amyotrophic lateral sclerosis 18 9.5 VAPB UBQLN2 SETX FUS FIG4 CHMP2B
50 neuromuscular disease 9.5 TARDBP SOD1 FUS FIG4 CRYAA ALS2

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis Type 12:



Diseases related to Amyotrophic Lateral Sclerosis Type 12

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis Type 12

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis Type 12

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis Type 12

Genetic Tests for Amyotrophic Lateral Sclerosis Type 12

Genetic tests related to Amyotrophic Lateral Sclerosis Type 12:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 12 29 OPTN

Anatomical Context for Amyotrophic Lateral Sclerosis Type 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis Type 12:

40
Brain

Publications for Amyotrophic Lateral Sclerosis Type 12

Articles related to Amyotrophic Lateral Sclerosis Type 12:

# Title Authors PMID Year
1
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia. 6
31838784 2019
2
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. 6
26740678 2016
3
Mutations of optineurin in amyotrophic lateral sclerosis. 6
20428114 2010
4
Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. 6
19172505 2009
5
Variation in optineurin (OPTN) allele frequencies between and within populations. 6
17293779 2007
6
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 6
11834836 2002
7
Epidemiological features of degenerative brain diseases as they occurred in Yaounde referral hospitals over a 9-year period. 61
17068407 2006
8
Evaluation of health-related quality of life using the MOS 36-Item Short-Form Health Status Survey in patients receiving noninvasive positive pressure ventilation. 61
12618917 2003
9
Correlation of histopathological and clinical findings in neuromuscular diseases. 61
1838864 1991

Variations for Amyotrophic Lateral Sclerosis Type 12

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis Type 12:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPTN OPTN, EX5DEL Deletion Pathogenic 7100 GRCh37:
GRCh38:
2 OPTN NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) SNV Pathogenic 7101 rs267606928 GRCh37: 10:13167989-13167989
GRCh38: 10:13125989-13125989
3 OPTN NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) SNV Pathogenic 7102 rs267606929 GRCh37: 10:13174098-13174098
GRCh38: 10:13132098-13132098
4 LOC108903148 , OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) Duplication Pathogenic 576203 rs1564354968 GRCh37: 10:13151279-13151280
GRCh38: 10:13109279-13109280
5 overlap with 4 genes NC_000010.11:g.(?_13109123)_(13183100_?)del Deletion Pathogenic 583651 GRCh37: 10:13151123-13225100
GRCh38: 10:13109123-13183100
6 overlap with 3 genes NC_000010.10:g.(?_12833157)_(13178866_?)del Deletion Pathogenic 584050 GRCh37: 10:12833157-13178866
GRCh38:
7 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) Insertion Pathogenic 647662 rs774258585 GRCh37: 10:13154464-13154465
GRCh38: 10:13112464-13112465
8 OPTN and overlap with 2 gene(s) NC_000010.11:g.(?_13109103)_(13136886_?)del Deletion Pathogenic 529764 GRCh37: 10:13151103-13178886
GRCh38: 10:13109103-13136886
9 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del Deletion Pathogenic 832940 GRCh37: 10:13151113-13154645
GRCh38:
10 OPTN NM_001008212.2(OPTN):c.1217del (p.Thr406fs) Deletion Pathogenic 873267 GRCh37: 10:13168014-13168014
GRCh38: 10:13126014-13126014
11 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del Deletion Pathogenic 831344 GRCh37: 10:13158257-13158350
GRCh38:
12 LOC108903148 , OPTN NM_001008212.2(OPTN):c.76del (p.His26fs) Deletion Pathogenic 873264 GRCh37: 10:13151192-13151192
GRCh38: 10:13109192-13109192
13 OPTN NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) SNV Pathogenic 992570 GRCh37: 10:13175515-13175515
GRCh38: 10:13133515-13133515
14 OPTN NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) Duplication Pathogenic 817138 rs1588449569 GRCh37: 10:13169804-13169805
GRCh38: 10:13127804-13127805
15 OPTN NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) SNV Pathogenic 1033993 GRCh37: 10:13164390-13164390
GRCh38: 10:13122390-13122390
16 OPTN NM_001008212.2(OPTN):c.875dup (p.Glu293fs) Duplication Likely pathogenic 873265 GRCh37: 10:13164477-13164478
GRCh38: 10:13122477-13122478
17 OPTN NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) Deletion Likely pathogenic 873266 GRCh37: 10:13167494-13167495
GRCh38: 10:13125494-13125495
18 OPTN NC_000010.11:g.(?_13118878)_(13119050_?)del Deletion Uncertain significance 832895 GRCh37: 10:13160878-13161050
GRCh38:
19 OPTN NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) SNV Uncertain significance 962957 GRCh37: 10:13161015-13161015
GRCh38: 10:13119015-13119015
20 LOC108903148 , OPTN NM_001008212.2(OPTN):c.287G>A (p.Arg96His) SNV Uncertain significance 969108 GRCh37: 10:13152394-13152394
GRCh38: 10:13110394-13110394
21 OPTN NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) SNV Uncertain significance 934500 GRCh37: 10:13160943-13160943
GRCh38: 10:13118943-13118943
22 OPTN NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) SNV Uncertain significance 940858 GRCh37: 10:13178745-13178745
GRCh38: 10:13136745-13136745
23 OPTN NM_001008212.2(OPTN):c.489A>G (p.Glu163=) SNV Uncertain significance 256881 rs113811959 GRCh37: 10:13154572-13154572
GRCh38: 10:13112572-13112572
24 OPTN NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) SNV Uncertain significance 299211 rs757411888 GRCh37: 10:13154508-13154508
GRCh38: 10:13112508-13112508
25 OPTN NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) SNV Uncertain significance 631627 rs140599944 GRCh37: 10:13154486-13154486
GRCh38: 10:13112486-13112486
26 OPTN NC_000010.10:g.(?_13160878)_(13161050_?)del Deletion Uncertain significance 1000454 GRCh37: 10:13160878-13161050
GRCh38:
27 OPTN NM_001008212.2(OPTN):c.626+5del Deletion Uncertain significance 1038831 GRCh37: 10:13158345-13158345
GRCh38: 10:13116345-13116345
28 OPTN NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) SNV Uncertain significance 1042597 GRCh37: 10:13164416-13164416
GRCh38: 10:13122416-13122416
29 OPTN NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu) SNV Uncertain significance 1043771 GRCh37: 10:13164404-13164404
GRCh38: 10:13122404-13122404
30 OPTN NM_001008212.2(OPTN):c.950A>G (p.His317Arg) SNV Uncertain significance 1017441 GRCh37: 10:13166062-13166062
GRCh38: 10:13124062-13124062
31 OPTN NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) SNV Uncertain significance 1019966 GRCh37: 10:13167971-13167971
GRCh38: 10:13125971-13125971
32 OPTN NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter) SNV Uncertain significance 1021664 GRCh37: 10:13178837-13178837
GRCh38: 10:13136837-13136837
33 OPTN NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) SNV Uncertain significance 651429 rs140599944 GRCh37: 10:13154486-13154486
GRCh38: 10:13112486-13112486
34 OPTN NM_001008212.2(OPTN):c.1533-3C>T SNV Uncertain significance 852864 GRCh37: 10:13175499-13175499
GRCh38: 10:13133499-13133499
35 OPTN NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) SNV Uncertain significance 861585 GRCh37: 10:13158319-13158319
GRCh38: 10:13116319-13116319
36 OPTN NM_001008211.1(OPTN):c.-408G>T SNV Uncertain significance 877641 GRCh37: 10:13142127-13142127
GRCh38: 10:13100127-13100127
37 OPTN NM_001008212.2(OPTN):c.812G>A (p.Arg271His) SNV Uncertain significance 877716 GRCh37: 10:13164417-13164417
GRCh38: 10:13122417-13122417
38 OPTN NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) SNV Uncertain significance 877717 GRCh37: 10:13164472-13164472
GRCh38: 10:13122472-13122472
39 OPTN NM_001008212.2(OPTN):c.*335C>T SNV Uncertain significance 877765 GRCh37: 10:13179201-13179201
GRCh38: 10:13137201-13137201
40 LOC108903148 , OPTN NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) SNV Uncertain significance 878705 GRCh37: 10:13152466-13152466
GRCh38: 10:13110466-13110466
41 OPTN NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) SNV Uncertain significance 878706 GRCh37: 10:13154481-13154481
GRCh38: 10:13112481-13112481
42 OPTN NM_001008212.2(OPTN):c.1243-9C>A SNV Uncertain significance 878758 GRCh37: 10:13169736-13169736
GRCh38: 10:13127736-13127736
43 OPTN NM_001008212.2(OPTN):c.*631A>G SNV Uncertain significance 878794 GRCh37: 10:13179497-13179497
GRCh38: 10:13137497-13137497
44 OPTN NM_001008212.2(OPTN):c.-184C>G SNV Uncertain significance 879254 GRCh37: 10:13142282-13142282
GRCh38: 10:13100282-13100282
45 OPTN NM_001008212.2(OPTN):c.-172G>A SNV Uncertain significance 879255 GRCh37: 10:13142294-13142294
GRCh38: 10:13100294-13100294
46 OPTN NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) SNV Uncertain significance 447910 rs377219791 GRCh37: 10:13174107-13174107
GRCh38: 10:13132107-13132107
47 OPTN NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) SNV Uncertain significance 879707 GRCh37: 10:13178765-13178765
GRCh38: 10:13136765-13136765
48 OPTN NM_001008212.2(OPTN):c.*222G>C SNV Uncertain significance 877764 GRCh37: 10:13179088-13179088
GRCh38: 10:13137088-13137088
49 OPTN NM_001008212.2(OPTN):c.*1111A>C SNV Uncertain significance 879768 GRCh37: 10:13179977-13179977
GRCh38: 10:13137977-13137977
50 LOC108903148 , OPTN NM_001008212.2(OPTN):c.-9A>G SNV Uncertain significance 880441 GRCh37: 10:13151114-13151114
GRCh38: 10:13109114-13109114

Expression for Amyotrophic Lateral Sclerosis Type 12

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis Type 12.

Pathways for Amyotrophic Lateral Sclerosis Type 12

Pathways related to Amyotrophic Lateral Sclerosis Type 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 VAPB UBQLN2 TARDBP SPG11 SOD1 SETX

GO Terms for Amyotrophic Lateral Sclerosis Type 12

Biological processes related to Amyotrophic Lateral Sclerosis Type 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.13 SOD1 FIG4 ALS2
2 regulation of macroautophagy GO:0016241 8.8 UBQLN2 ATP6V1E2 ATP6V1D

Molecular functions related to Amyotrophic Lateral Sclerosis Type 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.23 UBQLN2 TARDBP SOD1 SETX OPTN FUS
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.96 ATP6V1E2 ATP6V1D

Sources for Amyotrophic Lateral Sclerosis Type 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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