MCID: AMY106
MIFTS: 36

Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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 57
Amyotrophic Lateral Sclerosis Type 10 12 53 29 6 15
Amyotrophic Lateral Sclerosis 10 12 53 75 73
Als10 57 12 53 75
Amyotrophic Lateral Sclerosis 10, with or Without Ftd 57 13
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia and with Tdp43 Inclusions 75
Amyotrophic Lateral Sclerosis 10, with or Without Frontotemporal Dementia 12
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Frontotemporal Lobar Degeneration, Tardbp-Related 57
Sclerosis, Lateral, Amyotrophic, Type Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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 expressive language disorder. 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...

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 emotional lability 32 HP:0000712
2 spasticity 32 HP:0001257
3 dysarthria 32 HP:0001260
4 dysphagia 32 HP:0002015
5 stereotypy 32 HP:0000733
6 respiratory insufficiency due to muscle weakness 32 HP:0002747
7 skeletal muscle atrophy 32 HP:0003202
8 babinski sign 32 HP:0003487
9 amyotrophic lateral sclerosis 32 HP:0007354
10 disinhibition 32 HP:0000734
11 apathy 32 HP:0000741
12 perseveration 32 HP:0030223

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 29 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:

41
Brain, Spinal Cord, Tongue, Skeletal Muscle

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

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:

75 (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 all 42)
# 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.1042G> T (p.Gly348Cys) single nucleotide variant Pathogenic rs80356733 GRCh37 Chromosome 1, 11082508: 11082508
12 TARDBP NM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys) single nucleotide variant Pathogenic rs80356733 GRCh38 Chromosome 1, 11022451: 11022451
13 TARDBP NM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs80356731 GRCh37 Chromosome 1, 11082494: 11082494
14 TARDBP NM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs80356731 GRCh38 Chromosome 1, 11022437: 11022437
15 TARDBP NM_007375.3(TARDBP): c.943G> A (p.Ala315Thr) single nucleotide variant Pathogenic rs80356726 GRCh37 Chromosome 1, 11082409: 11082409
16 TARDBP NM_007375.3(TARDBP): c.943G> A (p.Ala315Thr) single nucleotide variant Pathogenic rs80356726 GRCh38 Chromosome 1, 11022352: 11022352
17 TARDBP NM_007375.3(TARDBP): c.*697G> A single nucleotide variant Pathogenic rs387906334 GRCh37 Chromosome 1, 11083408: 11083408
18 TARDBP NM_007375.3(TARDBP): c.*697G> A single nucleotide variant Pathogenic rs387906334 GRCh38 Chromosome 1, 11023351: 11023351
19 TARDBP NM_007375.3(TARDBP): c.*83T> C single nucleotide variant Pathogenic rs80356744 GRCh37 Chromosome 1, 11082794: 11082794
20 TARDBP NM_007375.3(TARDBP): c.*83T> C single nucleotide variant Pathogenic rs80356744 GRCh38 Chromosome 1, 11022737: 11022737
21 TARDBP NM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser) single nucleotide variant Pathogenic rs80356734 GRCh37 Chromosome 1, 11082521: 11082521
22 TARDBP NM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser) single nucleotide variant Pathogenic rs80356734 GRCh38 Chromosome 1, 11022464: 11022464
23 TARDBP NM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr) single nucleotide variant Likely pathogenic rs367543041 GRCh37 Chromosome 1, 11082610: 11082610
24 TARDBP NM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr) single nucleotide variant Likely pathogenic rs367543041 GRCh38 Chromosome 1, 11022553: 11022553
25 TARDBP NM_007375.3(TARDBP): c.800A> G (p.Asn267Ser) single nucleotide variant Pathogenic rs80356718 GRCh37 Chromosome 1, 11082266: 11082266
26 TARDBP NM_007375.3(TARDBP): c.800A> G (p.Asn267Ser) single nucleotide variant Pathogenic rs80356718 GRCh38 Chromosome 1, 11022209: 11022209
27 TARDBP NM_007375.3(TARDBP): c.881G> T (p.Gly294Val) single nucleotide variant Pathogenic rs80356721 GRCh37 Chromosome 1, 11082347: 11082347
28 TARDBP NM_007375.3(TARDBP): c.881G> T (p.Gly294Val) single nucleotide variant Pathogenic rs80356721 GRCh38 Chromosome 1, 11022290: 11022290
29 TARDBP NM_007375.3(TARDBP): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs80356723 GRCh37 Chromosome 1, 11082349: 11082349
30 TARDBP NM_007375.3(TARDBP): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic rs80356723 GRCh38 Chromosome 1, 11022292: 11022292
31 TARDBP NM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg) single nucleotide variant Pathogenic rs797044594 GRCh38 Chromosome 1, 11022559: 11022559
32 TARDBP NM_007375.3(TARDBP): c.1150G> C (p.Gly384Arg) single nucleotide variant Pathogenic rs797044594 GRCh37 Chromosome 1, 11082616: 11082616
33 TARDBP NM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly) single nucleotide variant Pathogenic rs797044595 GRCh38 Chromosome 1, 11022562: 11022562
34 TARDBP NM_007375.3(TARDBP): c.1153T> G (p.Trp385Gly) single nucleotide variant Pathogenic rs797044595 GRCh37 Chromosome 1, 11082619: 11082619
35 TARDBP NM_007375.3(TARDBP): c.198T> C (p.Ala66=) single nucleotide variant Benign/Likely benign rs61730366 GRCh38 Chromosome 1, 11013925: 11013925
36 TARDBP NM_007375.3(TARDBP): c.198T> C (p.Ala66=) single nucleotide variant Benign/Likely benign rs61730366 GRCh37 Chromosome 1, 11073982: 11073982
37 TARDBP NM_007375.3(TARDBP): c.714+67_714+68insG insertion Benign rs143130606 GRCh38 Chromosome 1, 11020666: 11020667
38 TARDBP NM_007375.3(TARDBP): c.714+67_714+68insG insertion Benign rs143130606 GRCh37 Chromosome 1, 11080723: 11080724
39 TARDBP NM_007375.3(TARDBP): c.111G> A (p.Gly37=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 11013838: 11013838
40 TARDBP NM_007375.3(TARDBP): c.111G> A (p.Gly37=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 11073895: 11073895
41 TARDBP NM_007375.3(TARDBP): c.263C> T (p.Thr88Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 11016868: 11016868
42 TARDBP NM_007375.3(TARDBP): c.263C> T (p.Thr88Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 11076925: 11076925

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 neuronal cell body GO:0043025 9.26 ALS2 ANG FUS RBM8A
2 growth cone GO:0030426 8.8 ALS2 ANG SETX

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 identical protein binding GO:0042802 9.1 APOH FUS OPTN SAMHD1 SETX TARDBP
2 ribonuclease activity GO:0004540 8.96 ANG SAMHD1

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

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17 ExPASy
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