ALS12
MCID: AMY062
MIFTS: 37

Amyotrophic Lateral Sclerosis 12 (ALS12)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12:

Name: Amyotrophic Lateral Sclerosis 12 56 12 73 13 71
Amyotrophic Lateral Sclerosis Type 12 12 29 6 15
Als12 56 12 73
Sclerosis, Lateral, Amyotrophic, Type Type 12 39

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 12:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060203
OMIM 56 613435
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
MedGen 41 C3150692
UMLS 71 C3150692

Summaries for Amyotrophic Lateral Sclerosis 12

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 12: 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.

MalaCards based summary : Amyotrophic Lateral Sclerosis 12, also known as amyotrophic lateral sclerosis type 12, is related to neuronopathy, distal hereditary motor, type iia and steroid-induced glaucoma. An important gene associated with Amyotrophic Lateral Sclerosis 12 is OPTN (Optineurin). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are muscle weakness and dysphagia

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

More information from OMIM: 613435 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 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 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 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type iia 10.4 CRYAA ALS2
2 steroid-induced glaucoma 10.3 OPTN CRYAA
3 spinal muscular atrophy with lower extremity predominance 10.3 VAPB SETX
4 autosomal recessive distal hereditary motor neuronopathy 10.3 SETX ALS2
5 phacogenic glaucoma 10.3 OPTN CRYAA
6 proximal spinal muscular atrophy 10.3 VAPB SETX
7 juvenile glaucoma 10.2 OPTN CRYAA
8 spinal muscular atrophy, distal, autosomal recessive, 4 10.2 SPG11 ALS2
9 spastic paraplegia 57, autosomal recessive 10.2 SPG11 ALS2
10 distal hereditary motor neuronopathy type 7 10.2 TARDBP ALS2
11 neuronopathy, distal hereditary motor, type viib 10.1 TARDBP ALS2
12 primary lateral sclerosis, adult, 1 10.1 SOD1 ALS2
13 spastic paraplegia 13, autosomal dominant 10.1 SPG11 CRYAA
14 semantic dementia 10.1 TARDBP CHMP2B
15 dysgraphia 10.1 TARDBP CHMP2B
16 writing disorder 10.0 TARDBP CHMP2B
17 pica disease 10.0 TARDBP FUS
18 primary congenital glaucoma 10.0 OPTN CRYAA
19 dyscalculia 10.0 TARDBP CHMP2B
20 spastic paraplegia 4, autosomal dominant 9.9 SPG11 ALS2
21 multisystem proteinopathy 9.9 TARDBP OPTN FUS
22 perry syndrome 9.9 TARDBP CHMP2B
23 amyotrophic lateral sclerosis 2, juvenile 9.9 SOD1 ALS2
24 associative agnosia 9.8 TARDBP FUS CHMP2B
25 nominal aphasia 9.8 TARDBP FUS CHMP2B
26 frontotemporal dementia, chromosome 3-linked 9.8 TARDBP FUS CHMP2B
27 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.8 TARDBP FUS CHMP2B
28 amyotrophic lateral sclerosis 19 9.7 TARDBP SOD1 ALS2
29 juvenile amyotrophic lateral sclerosis 9.7 SPG11 SETX FUS ALS2
30 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.7 TARDBP SOD1
31 prion disease 9.7 TARDBP SOD1 CRYAA
32 speech and communication disorders 9.7 TARDBP FUS CHMP2B
33 muscular atrophy 9.7 VAPB TARDBP SETX FUS
34 aphasia 9.6 TARDBP OPTN FUS CHMP2B
35 progressive bulbar palsy 9.6 VAPB SOD1 FUS ALS2
36 dermatopathia pigmentosa reticularis 9.6 TARDBP SOD1 FUS
37 amyotrophic lateral sclerosis 20 9.6 VAPB SPG11 SOD1 ALS2
38 short syndrome 9.6 SOD1 CRYAA
39 amyotrophic lateral sclerosis type 15 9.6 VAPB SPG11 SETX CHMP2B ALS2
40 amyotrophic lateral sclerosis 7 9.6 VAPB SPG11 SETX CHMP2B ALS2
41 amyotrophic lateral sclerosis 21 9.5 VAPB SPG11 SETX FUS ALS2
42 charcot-marie-tooth disease, axonal, type 2e 9.5 SPG11 SOD1 FIG4 ALS2
43 peripheral nervous system disease 9.5 SOD1 SETX OPTN FIG4 CRYAA
44 spinal and bulbar muscular atrophy, x-linked 1 9.4 TARDBP SOD1 FUS CRYAA
45 frontotemporal dementia 9.4 TARDBP SOD1 FUS CHMP2B
46 dementia 9.4 TARDBP SOD1 FUS CHMP2B
47 amyotrophic lateral sclerosis type 5 9.4 VAPB SPG11 SOD1 SETX ALS2
48 neuromuscular disease 9.4 SOD1 FUS FIG4 CRYAA ALS2
49 amyotrophic lateral sclerosis 18 9.3 VAPB SETX FUS FIG4 CHMP2B ALS2
50 supranuclear palsy, progressive, 1 9.3 TARDBP SOD1 FUS CHMP2B

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



Diseases related to Amyotrophic Lateral Sclerosis 12

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 dysphagia 31 HP:0002015
3 dysarthria 31 HP:0001260
4 amyotrophic lateral sclerosis 31 HP:0007354
5 tongue fasciculations 31 HP:0001308

Clinical features from OMIM:

613435

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12

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

Genetic Tests for Amyotrophic Lateral Sclerosis 12

Genetic tests related to Amyotrophic Lateral Sclerosis 12:

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

Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

40
Brain, Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 12

Articles related to Amyotrophic Lateral Sclerosis 12:

# Title Authors PMID Year
1
Mutations of optineurin in amyotrophic lateral sclerosis. 56 6
20428114 2010
2
RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS. 56
27493188 2016
3
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 56
25943890 2015
4
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
5
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
6
Epidemiological features of degenerative brain diseases as they occurred in Yaounde referral hospitals over a 9-year period. 61
17068407 2006
7
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
8
Correlation of histopathological and clinical findings in neuromuscular diseases. 61
1838864 1991

Variations for Amyotrophic Lateral Sclerosis 12

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 12:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPTN NC_000010.11:g.(?_13109103)_(13136886_?)deldeletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886
2 OPTN NC_000010.10:g.(?_12833157)_(13178866_?)deldeletion Pathogenic 584050 10:12833157-13178866
3 OPTN NC_000010.11:g.(?_13109123)_(13183100_?)deldeletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100
4 OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)duplication Pathogenic 576203 rs1564354968 10:13151279-13151280 10:13109279-13109280
5 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)insertion Pathogenic 647662 10:13154464-13154465 10:13112464-13112465
6 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)deldeletion Pathogenic 832940 10:13151113-13154645
7 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)deldeletion Pathogenic 831344 10:13158257-13158350
8 OPTN NM_001008212.2(OPTN):c.1217del (p.Thr406fs)deletion Pathogenic 873267 10:13168014-13168014 10:13126014-13126014
9 OPTN NM_001008212.2(OPTN):c.76del (p.His26fs)deletion Pathogenic 873264 10:13151192-13151192 10:13109192-13109192
10 OPTN OPTN, EX5DELdeletion Pathogenic 7100
11 OPTN NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)SNV Pathogenic 7101 rs267606928 10:13167989-13167989 10:13125989-13125989
12 OPTN NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)SNV Pathogenic 7102 rs267606929 10:13174098-13174098 10:13132098-13132098
13 OPTN NM_001008212.2(OPTN):c.875dup (p.Glu293fs)duplication Likely pathogenic 873265 10:13164477-13164478 10:13122477-13122478
14 OPTN NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)deletion Likely pathogenic 873266 10:13167494-13167495 10:13125494-13125495
15 OPTN NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)SNV Conflicting interpretations of pathogenicity 631627 rs140599944 10:13154486-13154486 10:13112486-13112486
16 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)SNV Conflicting interpretations of pathogenicity 7098 rs75654767 10:13178766-13178766 10:13136766-13136766
17 OPTN NM_001008212.2(OPTN):c.489A>G (p.Glu163=)SNV Conflicting interpretations of pathogenicity 256881 rs113811959 10:13154572-13154572 10:13112572-13112572
18 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
19 OPTN NM_001008212.2(OPTN):c.444G>A (p.Val148=)SNV Conflicting interpretations of pathogenicity 299213 rs780011442 10:13154527-13154527 10:13112527-13112527
20 OPTN NM_001008212.2(OPTN):c.573A>G (p.Ser191=)SNV Conflicting interpretations of pathogenicity 299215 rs773095721 10:13158287-13158287 10:13116287-13116287
21 OPTN NM_001008212.2(OPTN):c.*1251C>GSNV Conflicting interpretations of pathogenicity 299236 rs542617940 10:13180117-13180117 10:13138117-13138117
22 OPTN NM_001008212.2(OPTN):c.812G>A (p.Arg271His)SNV Conflicting interpretations of pathogenicity 877716 10:13164417-13164417 10:13122417-13122417
23 OPTN NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)SNV Conflicting interpretations of pathogenicity 877717 10:13164472-13164472 10:13122472-13122472
24 OPTN NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)SNV Conflicting interpretations of pathogenicity 879707 10:13178765-13178765 10:13136765-13136765
25 OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=)SNV Conflicting interpretations of pathogenicity 299218 rs150381274 10:13166075-13166075 10:13124075-13124075
26 OPTN NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)SNV Conflicting interpretations of pathogenicity 299222 rs771316696 10:13175538-13175538 10:13133538-13133538
27 OPTN NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)SNV Uncertain significance 299220 rs886046821 10:13174092-13174092 10:13132092-13132092
28 OPTN NM_001008212.2(OPTN):c.*938C>GSNV Uncertain significance 299232 rs886046826 10:13179804-13179804 10:13137804-13137804
29 OPTN NM_001008212.2(OPTN):c.*1089G>ASNV Uncertain significance 299235 rs758812707 10:13179955-13179955 10:13137955-13137955
30 OPTN NM_001008212.2(OPTN):c.*1385T>CSNV Uncertain significance 299238 rs546352206 10:13180251-13180251 10:13138251-13138251
31 OPTN NM_001008212.2(OPTN):c.*1063C>ASNV Uncertain significance 299234 rs530046832 10:13179929-13179929 10:13137929-13137929
32 OPTN NM_001008212.2(OPTN):c.*222G>CSNV Uncertain significance 877764 10:13179088-13179088 10:13137088-13137088
33 OPTN NM_001008212.2(OPTN):c.*335C>TSNV Uncertain significance 877765 10:13179201-13179201 10:13137201-13137201
34 OPTN NM_001008212.2(OPTN):c.*631A>GSNV Uncertain significance 878794 10:13179497-13179497 10:13137497-13137497
35 OPTN NM_001008212.2(OPTN):c.*1111A>CSNV Uncertain significance 879768 10:13179977-13179977 10:13137977-13137977
36 OPTN NM_001008212.2(OPTN):c.1243-9C>ASNV Uncertain significance 878758 10:13169736-13169736 10:13127736-13127736
37 OPTN NM_001008211.1(OPTN):c.-408G>TSNV Uncertain significance 877641 10:13142127-13142127 10:13100127-13100127
38 OPTN NM_001008212.2(OPTN):c.-184C>GSNV Uncertain significance 879254 10:13142282-13142282 10:13100282-13100282
39 OPTN NM_001008212.2(OPTN):c.-172G>ASNV Uncertain significance 879255 10:13142294-13142294 10:13100294-13100294
40 OPTN NM_001008212.2(OPTN):c.-9A>GSNV Uncertain significance 880441 10:13151114-13151114 10:13109114-13109114
41 OPTN NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)SNV Uncertain significance 880442 10:13151139-13151139 10:13109139-13109139
42 OPTN NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)SNV Uncertain significance 878705 10:13152466-13152466 10:13110466-13110466
43 OPTN NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)SNV Uncertain significance 878706 10:13154481-13154481 10:13112481-13112481
44 OPTN NC_000010.11:g.(?_13118878)_(13119050_?)deldeletion Uncertain significance 832895 10:13160878-13161050
45 OPTN NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)SNV Uncertain significance 861585 10:13158319-13158319 10:13116319-13116319
46 OPTN NM_001008212.2(OPTN):c.1533-3C>TSNV Uncertain significance 852864 10:13175499-13175499 10:13133499-13133499
47 OPTN NM_001008212.2(OPTN):c.626+4T>CSNV Uncertain significance 848382 10:13158344-13158344 10:13116344-13116344
48 OPTN NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)SNV Uncertain significance 447910 rs377219791 10:13174107-13174107 10:13132107-13132107
49 OPTN NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)SNV Uncertain significance 651429 10:13154486-13154486 10:13112486-13112486
50 OPTN NM_001008212.2(OPTN):c.1402-3C>GSNV Uncertain significance 650247 10:13174064-13174064 10:13132064-13132064

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 12:

73
# Symbol AA change Variation ID SNP ID
1 OPTN p.Glu478Gly VAR_063597 rs267606929
2 OPTN p.Val295Phe VAR_078108 rs761558354

Expression for Amyotrophic Lateral Sclerosis 12

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

Pathways for Amyotrophic Lateral Sclerosis 12

GO Terms for Amyotrophic Lateral Sclerosis 12

Cellular components related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.1 VAPB SPG11 SOD1 CHMP2B ATP6V1E2 ATP6V1D

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

# Name GO ID Score Top Affiliating Genes
1 cell death GO:0008219 9.37 OPTN ALS2
2 endosome organization GO:0007032 9.32 CHMP2B ALS2
3 transferrin transport GO:0033572 9.26 ATP6V1E2 ATP6V1D
4 gene expression GO:0010467 9.16 TARDBP FUS
5 phagosome acidification GO:0090383 8.96 ATP6V1E2 ATP6V1D
6 locomotory behavior GO:0007626 8.8 SOD1 FIG4 ALS2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 VAPB TARDBP SPG11 SOD1 SETX OPTN
2 identical protein binding GO:0042802 9.17 TARDBP SOD1 SETX OPTN FUS CRYAA
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.96 ATP6V1E2 ATP6V1D

Sources for Amyotrophic Lateral Sclerosis 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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