ALS12
MCID: AMY062
MIFTS: 35

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 steroid-induced glaucoma and phacogenic 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 dysarthria 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 57)
# Related Disease Score Top Affiliating Genes
1 steroid-induced glaucoma 10.2 OPTN CRYAA
2 phacogenic glaucoma 10.2 OPTN CRYAA
3 juvenile glaucoma 10.2 OPTN CRYAA
4 amyotrophic lateral sclerosis 20 10.1 SPG11 ALS2
5 spastic paraplegia 57, autosomal recessive 10.1 SPG11 ALS2
6 pontocerebellar hypoplasia, type 2e 10.0 VPS54 CHMP2B ALS2
7 associative agnosia 9.9 TARDBP CHMP2B
8 semantic dementia 9.9 TARDBP CHMP2B
9 dysgraphia 9.9 TARDBP CHMP2B
10 prosopagnosia 9.9 TARDBP CHMP2B
11 writing disorder 9.9 TARDBP CHMP2B
12 dyscalculia 9.8 TARDBP CHMP2B
13 amyotrophic lateral sclerosis type 5 9.8 VAPB SPG11 SETX ALS2
14 spinal and bulbar muscular atrophy, x-linked 1 9.8 TARDBP FUS CRYAA
15 pseudobulbar palsy 9.8 TARDBP CHMP2B ALS2
16 spastic paraplegia 4, autosomal dominant 9.7 SPG11 ALS2
17 mutism 9.7 TARDBP CHMP2B
18 juvenile amyotrophic lateral sclerosis 9.7 SPG11 SETX FUS ALS2
19 nominal aphasia 9.6 TARDBP FUS CHMP2B
20 amyotrophic lateral sclerosis 7 9.6 SPG11 SETX CHMP2B ALS2
21 perry syndrome 9.6 TARDBP FUS CHMP2B
22 progressive bulbar palsy 9.6 VAPB TARDBP FUS ALS2
23 supranuclear palsy, progressive, 1 9.6 TARDBP FUS CHMP2B
24 dementia, lewy body 9.6 TARDBP FUS CHMP2B
25 muscular atrophy 9.6 VAPB TARDBP SETX FUS
26 autosomal dominant cerebellar ataxia 9.5 TARDBP SETX FUS CRYAA
27 spinal muscular atrophy 9.5 VAPB TARDBP SETX FUS
28 speech and communication disorders 9.5 TARDBP FUS CHMP2B
29 amyotrophic lateral sclerosis 19 9.5 UBQLN2 TARDBP ALS2
30 amyotrophic lateral sclerosis 21 9.5 VAPB SPG11 SETX FUS ALS2
31 aphasia 9.5 TARDBP OPTN FUS CHMP2B
32 dystonia 9.3 SETX FUS CHMP2B ALS2
33 hereditary spastic paraplegia 9.3 UBQLN2 SPG11 SETX ALS2
34 charcot-marie-tooth disease 9.2 VAPB SPG11 SETX FIG4 CRYAA ALS2
35 motor neuron disease 9.2 VAPB TARDBP SETX OPTN FUS ALS2
36 frontotemporal dementia 9.1 UBQLN2 TARDBP FUS CHMP2B
37 dementia 9.1 UBQLN2 TARDBP FUS CHMP2B
38 spastic paraplegia 64, autosomal recessive 9.1 UBQLN2 SPG11 SETX FUS ALS2
39 hemochromatosis, type 1 9.0 VAPB SPG11 SETX OPTN FUS FIG4
40 inclusion body myopathy with paget disease of bone and frontotemporal dementia 8.9 UBQLN2 TARDBP OPTN FUS CHMP2B
41 pick disease of brain 8.8 UBQLN2 TARDBP OPTN FUS CHMP2B
42 amyotrophic lateral sclerosis type 15 8.8 VAPB UBQLN2 SPG11 SETX CHMP2B ALS2
43 progressive muscular atrophy 8.8 VAPB UBQLN2 TARDBP FUS CHMP2B
44 amyotrophic lateral sclerosis 18 8.6 VAPB UBQLN2 SETX FUS FIG4 CHMP2B
45 amyotrophic lateral sclerosis 16, juvenile 8.5 VAPB UBQLN2 SPG11 SETX FUS CHMP2B
46 amyotrophic lateral sclerosis type 14 8.5 VPS54 VAPB UBQLN2 SETX OPTN FUS
47 spinocerebellar ataxia 2 8.4 VAPB UBQLN2 TARDBP SPG11 SETX FUS
48 amyotrophic lateral sclerosis 17 8.3 VPS54 VAPB UBQLN2 SPG11 SETX FIG4
49 amyotrophic lateral sclerosis 9 8.2 VAPB UBQLN2 SPG11 SETX OPTN FUS
50 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 7.9 VAPB UBQLN2 TARDBP SPG11 SETX OPTN

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 dysarthria 31 HP:0001260
2 dysphagia 31 HP:0002015
3 muscle weakness 31 HP:0001324
4 tongue fasciculations 31 HP:0001308
5 amyotrophic lateral sclerosis 31 HP:0007354

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, Bone

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 all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPTN OPTN, EX5DELdeletion Pathogenic 7100
2 OPTN NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)SNV Pathogenic 7101 rs267606928 10:13167989-13167989 10:13125989-13125989
3 OPTN NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)SNV Pathogenic 7102 rs267606929 10:13174098-13174098 10:13132098-13132098
4 OPTN NC_000010.10:g.(?_13151103)_(13178886_?)deldeletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886
5 OPTN NC_000010.10:g.(?_12833157)_(13178866_?)deldeletion Pathogenic 584050 10:12833157-13178866
6 OPTN NC_000010.10:g.(?_13151123)_(13225100_?)deldeletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100
7 OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)duplication Pathogenic 576203 rs1564354968 10:13151279-13151280 10:13109279-13109280
8 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)insertion Pathogenic 647662 10:13154464-13154465 10:13112464-13112465
9 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
10 OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=)SNV Conflicting interpretations of pathogenicity 299218 rs150381274 10:13166075-13166075 10:13124075-13124075
11 OPTN NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)SNV Conflicting interpretations of pathogenicity 631627 rs140599944 10:13154486-13154486 10:13112486-13112486
12 OPTN NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)SNV Uncertain significance 651429 10:13154486-13154486 10:13112486-13112486
13 OPTN NM_001008212.2(OPTN):c.1402-3C>GSNV Uncertain significance 650247 10:13174064-13174064 10:13132064-13132064
14 OPTN NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)SNV Uncertain significance 565324 rs1564354765 10:13151136-13151136 10:13109136-13109136
15 OPTN NM_001008212.2(OPTN):c.1401+21C>GSNV Likely benign 460308 rs553828705 10:13169924-13169924 10:13127924-13127924
16 OPTN NM_001008212.2(OPTN):c.626+24G>ASNV Benign 256883 rs11258211 10:13158364-13158364 10:13116364-13116364

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

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

# Name GO ID Score Top Affiliating Genes
1 endosome organization GO:0007032 9.26 CHMP2B ALS2
2 cell death GO:0008219 9.16 OPTN ALS2
3 autophagy GO:0006914 9.13 UBQLN2 OPTN CHMP2B
4 gene expression GO:0010467 8.62 TARDBP FUS

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 TARDBP SETX OPTN FUS CRYAA
2 protein binding GO:0005515 9.44 VPS54 VAPB UBQLN2 TARDBP SPG11 SETX
3 polyubiquitin modification-dependent protein binding GO:0031593 8.96 UBQLN2 OPTN

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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