ALS12
MCID: AMY113
MIFTS: 27

Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia (ALS12)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia 57 6
Als12 57 72
Amyotrophic Lateral Sclerosis 12 72

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 12 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613435
OMIM Phenotypic Series 57 PS105400
MeSH 44 D000690
MedGen 41 C3150692

Summaries for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 72 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 with or Without Frontotemporal Dementia, also known as als12, is related to amyotrophic lateral sclerosis type 12 and amyotrophic lateral sclerosis 1. An important gene associated with Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia is OPTN (Optineurin). Affiliated tissues include spinal cord and tongue, and related phenotypes are dysarthria and dysphagia

OMIM® : 57 Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by Maruyama et al., 2010 and Feng et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). (613435) (Updated 05-Apr-2021)

Related Diseases for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:



Diseases related to Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:

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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

Anatomical Context for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:

40
Spinal Cord, Tongue

Publications for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:

(show all 11)
# Title Authors PMID Year
1
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia. 57 6
31838784 2019
2
Mutations of optineurin in amyotrophic lateral sclerosis. 6 57
20428114 2010
3
RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS. 57
27493188 2016
4
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. 6
26740678 2016
5
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 57
25943890 2015
6
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
7
Variation in optineurin (OPTN) allele frequencies between and within populations. 6
17293779 2007
8
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 6
11834836 2002
9
Epidemiological features of degenerative brain diseases as they occurred in Yaounde referral hospitals over a 9-year period. 61
17068407 2006
10
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
11
Correlation of histopathological and clinical findings in neuromuscular diseases. 61
1838864 1991

Variations for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:

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 overlap with 4 genes NC_000010.11:g.(?_13109123)_(13183100_?)del Deletion Pathogenic 583651 GRCh37: 10:13151123-13225100
GRCh38: 10:13109123-13183100
5 overlap with 3 genes NC_000010.10:g.(?_12833157)_(13178866_?)del Deletion Pathogenic 584050 GRCh37: 10:12833157-13178866
GRCh38:
6 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) Insertion Pathogenic 647662 rs774258585 GRCh37: 10:13154464-13154465
GRCh38: 10:13112464-13112465
7 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
8 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del Deletion Pathogenic 832940 GRCh37: 10:13151113-13154645
GRCh38:
9 OPTN NM_001008212.2(OPTN):c.1217del (p.Thr406fs) Deletion Pathogenic 873267 GRCh37: 10:13168014-13168014
GRCh38: 10:13126014-13126014
10 LOC108903148 , OPTN NM_001008212.2(OPTN):c.76del (p.His26fs) Deletion Pathogenic 873264 GRCh37: 10:13151192-13151192
GRCh38: 10:13109192-13109192
11 OPTN NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) SNV Pathogenic 992570 GRCh37: 10:13175515-13175515
GRCh38: 10:13133515-13133515
12 OPTN NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) Duplication Pathogenic 817138 rs1588449569 GRCh37: 10:13169804-13169805
GRCh38: 10:13127804-13127805
13 OPTN NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) SNV Pathogenic 1033993 GRCh37: 10:13164390-13164390
GRCh38: 10:13122390-13122390
14 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del Deletion Pathogenic 831344 GRCh37: 10:13158257-13158350
GRCh38:
15 LOC108903148 , OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) Duplication Pathogenic 576203 rs1564354968 GRCh37: 10:13151279-13151280
GRCh38: 10:13109279-13109280
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 NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) SNV Uncertain significance 962957 GRCh37: 10:13161015-13161015
GRCh38: 10:13119015-13119015
19 LOC108903148 , OPTN NM_001008212.2(OPTN):c.287G>A (p.Arg96His) SNV Uncertain significance 969108 GRCh37: 10:13152394-13152394
GRCh38: 10:13110394-13110394
20 OPTN NM_001008211.1(OPTN):c.-408G>T SNV Uncertain significance 877641 GRCh37: 10:13142127-13142127
GRCh38: 10:13100127-13100127
21 OPTN NM_001008212.2(OPTN):c.812G>A (p.Arg271His) SNV Uncertain significance 877716 GRCh37: 10:13164417-13164417
GRCh38: 10:13122417-13122417
22 OPTN NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) SNV Uncertain significance 877717 GRCh37: 10:13164472-13164472
GRCh38: 10:13122472-13122472
23 OPTN NM_001008212.2(OPTN):c.*335C>T SNV Uncertain significance 877765 GRCh37: 10:13179201-13179201
GRCh38: 10:13137201-13137201
24 LOC108903148 , OPTN NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) SNV Uncertain significance 878705 GRCh37: 10:13152466-13152466
GRCh38: 10:13110466-13110466
25 OPTN NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) SNV Uncertain significance 878706 GRCh37: 10:13154481-13154481
GRCh38: 10:13112481-13112481
26 OPTN NM_001008212.2(OPTN):c.-184C>G SNV Uncertain significance 879254 GRCh37: 10:13142282-13142282
GRCh38: 10:13100282-13100282
27 OPTN NM_001008212.2(OPTN):c.-172G>A SNV Uncertain significance 879255 GRCh37: 10:13142294-13142294
GRCh38: 10:13100294-13100294
28 OPTN NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) SNV Uncertain significance 447910 rs377219791 GRCh37: 10:13174107-13174107
GRCh38: 10:13132107-13132107
29 LOC108903148 , OPTN NM_001008212.2(OPTN):c.-9A>G SNV Uncertain significance 880441 GRCh37: 10:13151114-13151114
GRCh38: 10:13109114-13109114
30 LOC108903148 , OPTN NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) SNV Uncertain significance 880442 GRCh37: 10:13151139-13151139
GRCh38: 10:13109139-13109139
31 OPTN NM_001008212.2(OPTN):c.626+4T>C SNV Uncertain significance 848382 GRCh37: 10:13158344-13158344
GRCh38: 10:13116344-13116344
32 LOC108903148 , OPTN NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) SNV Uncertain significance 565324 rs1564354765 GRCh37: 10:13151136-13151136
GRCh38: 10:13109136-13109136
33 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) SNV Uncertain significance 266060 rs142812715 GRCh37: 10:13166053-13166053
GRCh38: 10:13124053-13124053
34 OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=) SNV Uncertain significance 299218 rs150381274 GRCh37: 10:13166075-13166075
GRCh38: 10:13124075-13124075
35 OPTN NM_001008212.2(OPTN):c.573A>G (p.Ser191=) SNV Uncertain significance 299215 rs773095721 GRCh37: 10:13158287-13158287
GRCh38: 10:13116287-13116287
36 OPTN NM_001008212.2(OPTN):c.*1089G>A SNV Uncertain significance 299235 rs758812707 GRCh37: 10:13179955-13179955
GRCh38: 10:13137955-13137955
37 OPTN NM_001008212.2(OPTN):c.*218G>C SNV Uncertain significance 299225 rs886046824 GRCh37: 10:13179084-13179084
GRCh38: 10:13137084-13137084
38 OPTN NM_001008212.2(OPTN):c.*461G>A SNV Uncertain significance 299230 rs541250740 GRCh37: 10:13179327-13179327
GRCh38: 10:13137327-13137327
39 OPTN NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) SNV Uncertain significance 299222 rs771316696 GRCh37: 10:13175538-13175538
GRCh38: 10:13133538-13133538
40 OPTN NM_001008212.2(OPTN):c.*1285T>C SNV Uncertain significance 299237 rs560947786 GRCh37: 10:13180151-13180151
GRCh38: 10:13138151-13138151
41 LOC108903148 , OPTN NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) SNV Uncertain significance 299209 rs756622651 GRCh37: 10:13152354-13152354
GRCh38: 10:13110354-13110354
42 OPTN NM_001008212.2(OPTN):c.*306G>A SNV Uncertain significance 299227 rs538280633 GRCh37: 10:13179172-13179172
GRCh38: 10:13137172-13137172
43 OPTN NM_001008212.2(OPTN):c.*1063C>A SNV Uncertain significance 299234 rs530046832 GRCh37: 10:13179929-13179929
GRCh38: 10:13137929-13137929
44 OPTN NM_001008212.2(OPTN):c.441G>A (p.Val147=) SNV Uncertain significance 299212 rs886046819 GRCh37: 10:13154524-13154524
GRCh38: 10:13112524-13112524
45 OPTN NM_001008212.2(OPTN):c.-272G>T SNV Uncertain significance 299204 rs886046817 GRCh37: 10:13142194-13142194
GRCh38: 10:13100194-13100194
46 OPTN NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) SNV Uncertain significance 299220 rs886046821 GRCh37: 10:13174092-13174092
GRCh38: 10:13132092-13132092
47 OPTN NM_001008212.2(OPTN):c.*938C>G SNV Uncertain significance 299232 rs886046826 GRCh37: 10:13179804-13179804
GRCh38: 10:13137804-13137804
48 OPTN NM_001008211.1(OPTN):c.-453G>T SNV Uncertain significance 299200 rs886046816 GRCh37: 10:13142082-13142082
GRCh38: 10:13100082-13100082
49 OPTN NM_001008212.2(OPTN):c.*1042T>G SNV Uncertain significance 299233 rs886046827 GRCh37: 10:13179908-13179908
GRCh38: 10:13137908-13137908
50 OPTN NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) SNV Uncertain significance 299217 rs886046820 GRCh37: 10:13166073-13166073
GRCh38: 10:13124073-13124073

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia:

72
# 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 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

Sources for Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal...

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