ALS10
MCID: AMY106
MIFTS: 39

Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia (ALS10)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 58
Amyotrophic Lateral Sclerosis Type 10 12 54 30 6 15
Amyotrophic Lateral Sclerosis 10 12 54 76 74
Als10 58 12 54 76
Amyotrophic Lateral Sclerosis 10, with or Without Ftd 58 13
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia and with Tdp43 Inclusions 76
Amyotrophic Lateral Sclerosis 10, with or Without Frontotemporal Dementia 12
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Frontotemporal Lobar Degeneration, Tardbp-Related 58
Sclerosis, Lateral, Amyotrophic, Type Type 10 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
rapidly progressive
variable age at onset (range 25 to 78 years)


HPO:

33
amyotrophic lateral sclerosis 10 with or without frontotemporal dementia:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 76 Amyotrophic lateral sclerosis 10: 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 10 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis type 10, is related to juvenile amyotrophic lateral sclerosis and brown-vialetto-van laere syndrome. An important gene associated with Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia is TARDBP (TAR DNA Binding Protein). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are emotional lability and spasticity

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the TARDBP gene on chromosome 1.

Description from OMIM: 612069

Related Diseases for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Diseases in the Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia family:

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia

Diseases related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.3 ALS2 FUS SETX
2 brown-vialetto-van laere syndrome 10.0 ALS2 TARDBP
3 expressive language disorder 10.0 FUS TARDBP
4 amyotrophic lateral sclerosis 18 10.0 FUS TARDBP
5 lethal congenital contracture syndrome 1 10.0 FUS TARDBP
6 anterior horn cell disease 9.9 FUS TARDBP
7 amyotrophic lateral sclerosis 4, juvenile 9.9 ALS2 DAO SETX
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 FUS TARDBP
9 spinocerebellar ataxia 31 9.8 FUS SETX TARDBP
10 amyotrophic lateral sclerosis type 14 9.7 FUS OPTN TARDBP
11 pick disease of brain 9.7 FUS TARDBP
12 amyotrophic lateral sclerosis 21 9.5 FUS OPTN SETX TARDBP
13 amyotrophic lateral sclerosis type 6 9.4 ALS2 DAO FUS SETX TARDBP
14 motor neuron disease 9.3 ALS2 FUS OPTN SETX TARDBP
15 lateral sclerosis 8.5 ALS2 ANG FIG4 FUS OPTN SETX
16 amyotrophic lateral sclerosis 7 8.3 ALS2 ANG DAO FIG4 FUS OPTN
17 amyotrophic lateral sclerosis 9 8.3 ALS2 ANG DAO FIG4 FUS OPTN
18 amyotrophic lateral sclerosis 11 8.3 ALS2 ANG DAO FIG4 FUS OPTN
19 amyotrophic lateral sclerosis 1 8.1 ALS2 ANG DAO FIG4 FUS OPTN

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:



Diseases related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 emotional lability 33 HP:0000712
2 spasticity 33 HP:0001257
3 dysarthria 33 HP:0001260
4 dysphagia 33 HP:0002015
5 stereotypy 33 HP:0000733
6 respiratory insufficiency due to muscle weakness 33 HP:0002747
7 skeletal muscle atrophy 33 HP:0003202
8 babinski sign 33 HP:0003487
9 amyotrophic lateral sclerosis 33 HP:0007354
10 disinhibition 33 HP:0000734
11 apathy 33 HP:0000741
12 frontotemporal dementia 33 HP:0002145
13 perseveration 33 HP:0030223

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
disinhibition
apathy
perseverative behavior

Muscle Soft Tissue:
muscle weakness
muscle atrophy
muscle biopsy shows chronic and active denervation

Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Mouth:
tongue hypotrophy

Neurologic Central Nervous System:
spasticity
dysarthria
pyramidal signs
extensor plantar responses
upper and lower motor neuron disease
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
bulbar symptoms

Clinical features from OMIM:

612069

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Genetic tests related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 10 30 TARDBP

Anatomical Context for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

42
Brain, Spinal Cord, Tongue, Skeletal Muscle

Publications for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

(show all 13)
# Title Authors Year
1
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. ( 24300238 )
2014
2
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. ( 21220647 )
2011
3
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. ( 20697052 )
2010
4
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. ( 19350673 )
2009
5
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. ( 19618195 )
2009
6
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. ( 19224587 )
2009
7
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. ( 19695877 )
2009
8
TDP-43 A315T mutation in familial motor neuron disease. ( 18288693 )
2008
9
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. ( 18779421 )
2008
10
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. ( 18309045 )
2008
11
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. ( 18396105 )
2008
12
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. ( 18372902 )
2008
13
TDP-43 mutation in familial amyotrophic lateral sclerosis. ( 18438952 )
2008

Variations for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

76 (show all 25)
# Symbol AA change Variation ID SNP ID
1 TARDBP p.Asp169Gly VAR_045657 rs80356717
2 TARDBP p.Gly287Ser VAR_045658 rs80356719
3 TARDBP p.Gly290Ala VAR_045659 rs121908395
4 TARDBP p.Gly294Ala VAR_045660 rs80356721
5 TARDBP p.Gly298Ser VAR_045661 rs4884357
6 TARDBP p.Ala315Thr VAR_045662 rs80356726
7 TARDBP p.Gln331Lys VAR_045663 rs80356727
8 TARDBP p.Met337Val VAR_045664 rs80356730
9 TARDBP p.Gly348Cys VAR_045665 rs80356733
10 TARDBP p.Arg361Ser VAR_045666 rs80356735
11 TARDBP p.Ala382Thr VAR_045667 rs367543041
12 TARDBP p.Asn390Asp VAR_045668 rs80356741
13 TARDBP p.Asn390Ser VAR_045669 rs80356742
14 TARDBP p.Asn267Ser VAR_058611 rs80356718
15 TARDBP p.Gly294Val VAR_058612 rs80356721
16 TARDBP p.Gly295Arg VAR_058613 rs80356723
17 TARDBP p.Gly295Ser VAR_058614 rs80356723
18 TARDBP p.Ser332Asn VAR_058615 rs80356728
19 TARDBP p.Gly335Asp VAR_058616 rs80356729
20 TARDBP p.Ser379Cys VAR_058617 rs80356739
21 TARDBP p.Ser379Pro VAR_058618 rs80356738
22 TARDBP p.Ser393Leu VAR_058619 rs80356743
23 TARDBP p.Gln343Arg VAR_062767 rs80356731
24 TARDBP p.Gly357Arg VAR_067499
25 TARDBP p.Arg361Thr VAR_067500

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 TARDBP NM_007375.3(TARDBP): c.1009A> G (p.Met337Val) single nucleotide variant Pathogenic rs80356730 GRCh37 Chromosome 1, 11082475: 11082475
2 TARDBP NM_007375.3(TARDBP): c.1009A> G (p.Met337Val) single nucleotide variant Pathogenic rs80356730 GRCh38 Chromosome 1, 11022418: 11022418
3 TARDBP NM_007375.3(TARDBP): c.991C> A (p.Gln331Lys) single nucleotide variant Pathogenic rs80356727 GRCh37 Chromosome 1, 11082457: 11082457
4 TARDBP NM_007375.3(TARDBP): c.991C> A (p.Gln331Lys) single nucleotide variant Pathogenic rs80356727 GRCh38 Chromosome 1, 11022400: 11022400
5 TARDBP NM_007375.3(TARDBP): c.881G> C (p.Gly294Ala) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
6 TARDBP NM_007375.3(TARDBP): c.881G> C (p.Gly294Ala) single nucleotide variant Pathogenic rs80356721 GRCh38 Chromosome 1, 11022290: 11022290
7 TARDBP NM_007375.3(TARDBP): c.869G> C (p.Gly290Ala) single nucleotide variant Pathogenic rs121908395 GRCh37 Chromosome 1, 11082335: 11082335
8 TARDBP NM_007375.3(TARDBP): c.869G> C (p.Gly290Ala) single nucleotide variant Pathogenic rs121908395 GRCh38 Chromosome 1, 11022278: 11022278
9 TARDBP NM_007375.3(TARDBP): c.892G> A (p.Gly298Ser) single nucleotide variant Pathogenic rs4884357 GRCh37 Chromosome 1, 11082358: 11082358
10 TARDBP NM_007375.3(TARDBP): c.892G> A (p.Gly298Ser) single nucleotide variant Pathogenic rs4884357 GRCh38 Chromosome 1, 11022301: 11022301
11 TARDBP NM_007375.3(TARDBP): c.506A> G (p.Asp169Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs80356717 GRCh37 Chromosome 1, 11078893: 11078893
12 TARDBP NM_007375.3(TARDBP): c.506A> G (p.Asp169Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs80356717 GRCh38 Chromosome 1, 11018836: 11018836
13 TARDBP NM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys) single nucleotide variant Pathogenic rs80356733 GRCh37 Chromosome 1, 11082508: 11082508
14 TARDBP NM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys) single nucleotide variant Pathogenic rs80356733 GRCh38 Chromosome 1, 11022451: 11022451
15 TARDBP NM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs80356731 GRCh37 Chromosome 1, 11082494: 11082494
16 TARDBP NM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs80356731 GRCh38 Chromosome 1, 11022437: 11022437
17 TARDBP NM_007375.3(TARDBP): c.943G> A (p.Ala315Thr) single nucleotide variant Pathogenic rs80356726 GRCh37 Chromosome 1, 11082409: 11082409
18 TARDBP NM_007375.3(TARDBP): c.943G> A (p.Ala315Thr) single nucleotide variant Pathogenic rs80356726 GRCh38 Chromosome 1, 11022352: 11022352
19 TARDBP NM_007375.3(TARDBP): c.*697G> A single nucleotide variant Pathogenic rs387906334 GRCh37 Chromosome 1, 11083408: 11083408
20 TARDBP NM_007375.3(TARDBP): c.*697G> A single nucleotide variant Pathogenic rs387906334 GRCh38 Chromosome 1, 11023351: 11023351
21 TARDBP NM_007375.3(TARDBP): c.*83T> C single nucleotide variant Pathogenic rs80356744 GRCh37 Chromosome 1, 11082794: 11082794
22 TARDBP NM_007375.3(TARDBP): c.*83T> C single nucleotide variant Pathogenic rs80356744 GRCh38 Chromosome 1, 11022737: 11022737
23 TARDBP NM_007375.3(TARDBP): c.1035C> A (p.Asn345Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 11082501: 11082501
24 TARDBP NM_007375.3(TARDBP): c.1035C> A (p.Asn345Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 11022444: 11022444
25 TARDBP NM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser) single nucleotide variant Pathogenic rs80356734 GRCh37 Chromosome 1, 11082521: 11082521
26 TARDBP NM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser) single nucleotide variant Pathogenic rs80356734 GRCh38 Chromosome 1, 11022464: 11022464
27 TARDBP NM_007375.3(TARDBP): c.1121dupA (p.Tyr374Terfs) duplication Uncertain significance rs80356737 GRCh37 Chromosome 1, 11082587: 11082587
28 TARDBP NM_007375.3(TARDBP): c.1121dupA (p.Tyr374Terfs) duplication Uncertain significance rs80356737 GRCh38 Chromosome 1, 11022530: 11022530
29 TARDBP NM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr) single nucleotide variant Likely pathogenic rs367543041 GRCh37 Chromosome 1, 11082610: 11082610
30 TARDBP NM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr) single nucleotide variant Likely pathogenic rs367543041 GRCh38 Chromosome 1, 11022553: 11022553
31 TARDBP NM_007375.3(TARDBP): c.269C> T (p.Ala90Val) single nucleotide variant Uncertain significance rs80356715 GRCh37 Chromosome 1, 11076931: 11076931
32 TARDBP NM_007375.3(TARDBP): c.269C> T (p.Ala90Val) single nucleotide variant Uncertain significance rs80356715 GRCh38 Chromosome 1, 11016874: 11016874
33 TARDBP NM_007375.3(TARDBP): c.800A> G (p.Asn267Ser) single nucleotide variant Pathogenic rs80356718 GRCh37 Chromosome 1, 11082266: 11082266
34 TARDBP NM_007375.3(TARDBP): c.800A> G (p.Asn267Ser) single nucleotide variant Pathogenic rs80356718 GRCh38 Chromosome 1, 11022209: 11022209
35 TARDBP NM_007375.3(TARDBP): c.859G> A (p.Gly287Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80356719 GRCh37 Chromosome 1, 11082325: 11082325
36 TARDBP NM_007375.3(TARDBP): c.859G> A (p.Gly287Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80356719 GRCh38 Chromosome 1, 11022268: 11022268
37 TARDBP NM_007375.3(TARDBP): c.881G> T (p.Gly294Val) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
38 TARDBP NM_007375.3(TARDBP): c.881G> T (p.Gly294Val) single nucleotide variant Pathogenic rs80356721 GRCh38 Chromosome 1, 11022290: 11022290
39 TARDBP NM_007375.3(TARDBP): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs80356723 GRCh37 Chromosome 1, 11082349: 11082349
40 TARDBP NM_007375.3(TARDBP): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs80356723 GRCh38 Chromosome 1, 11022292: 11022292
41 TARDBP NM_007375.3(TARDBP): c.931A> G (p.Met311Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 11082397: 11082397
42 TARDBP NM_007375.3(TARDBP): c.931A> G (p.Met311Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 11022340: 11022340
43 TARDBP NM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg) single nucleotide variant Uncertain significance rs797044594 GRCh38 Chromosome 1, 11022559: 11022559
44 TARDBP NM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg) single nucleotide variant Uncertain significance rs797044594 GRCh37 Chromosome 1, 11082616: 11082616
45 TARDBP NM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly) single nucleotide variant Pathogenic rs797044595 GRCh38 Chromosome 1, 11022562: 11022562
46 TARDBP NM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly) single nucleotide variant Pathogenic rs797044595 GRCh37 Chromosome 1, 11082619: 11082619
47 TARDBP NM_007375.3(TARDBP): c.198T> C (p.Ala66=) single nucleotide variant Benign/Likely benign rs61730366 GRCh38 Chromosome 1, 11013925: 11013925
48 TARDBP NM_007375.3(TARDBP): c.198T> C (p.Ala66=) single nucleotide variant Benign/Likely benign rs61730366 GRCh37 Chromosome 1, 11073982: 11073982
49 TARDBP NM_007375.3(TARDBP): c.714+67_714+68insG insertion Benign rs143130606 GRCh38 Chromosome 1, 11020666: 11020667
50 TARDBP NM_007375.3(TARDBP): c.714+67_714+68insG insertion Benign rs143130606 GRCh37 Chromosome 1, 11080723: 11080724

Expression for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Cellular components related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.33 ALS2 FUS RBM8A
2 growth cone GO:0030426 9.13 ALS2 ANG SETX
3 neuronal cell body GO:0043025 8.92 ALS2 ANG FUS RBM8A

Biological processes related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 8.96 ALS2 FIG4
2 cell death GO:0008219 8.62 ALS2 OPTN

Molecular functions related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.46 ANG FUS RBM8A TARDBP
2 protein binding GO:0005515 9.28 ALS2 ANG DAO FIG4 FUS OPTN
3 identical protein binding GO:0042802 9.26 FUS OPTN SETX TARDBP

Sources for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

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