ALS22
MCID: AMY099
MIFTS: 28

Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia (ALS22)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 57 29 6 72
Als22 57 74
Amyotrophic Lateral Sclerosis 22, with or Without Frontotemporal Dementia 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
limited clinical information provided


HPO:

32
amyotrophic lateral sclerosis 22 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D000690
UMLS 72 C4015512

Summaries for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 74 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia: 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. Patients with ALS22 may develop frontotemporal dementia.

MalaCards based summary : Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia, is also known as als22. An important gene associated with Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia is TUBA4A (Tubulin Alpha 4a), and among its related pathways/superpathways are Development Slit-Robo signaling and Chaperonin-mediated protein folding. Affiliated tissues include brain and spinal cord, and related phenotypes are frontotemporal dementia and amyotrophic lateral sclerosis

More information from OMIM: 616208 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

32
# Description HPO Frequency HPO Source Accession
1 frontotemporal dementia 32 occasional (7.5%) HP:0002145
2 amyotrophic lateral sclerosis 32 HP:0007354

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
amyotrophic lateral sclerosis with spinal site of onset
upper motor neuron involvement
lower motor neuron involvement
frontotemporal dementia (in some patients)

Clinical features from OMIM:

616208

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 9.33 STK16 TUBA4A TUBA4B
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.96 STK16 TUBA4B
3 Increased number of mitotic cells GR00098-A-3 8.62 STK16 TUBA4B

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Genetic tests related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia 29 TUBA4A

Anatomical Context for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

41
Brain, Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

# Title Authors PMID Year
1
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. 8 71
25374358 2014
2
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 71
21914052 2012
3
Amyotrophic Lateral Sclerosis Overview 71
20301623 2001

Variations for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TUBA4A NM_006000.3(TUBA4A): c.958C> T (p.Arg320Cys) single nucleotide variant Pathogenic rs730880025 2:220115463-220115463 2:219250741-219250741
2 TUBA4A NM_006000.3(TUBA4A): c.959G> A (p.Arg320His) single nucleotide variant Pathogenic rs730880026 2:220115462-220115462 2:219250740-219250740
3 TUBA4A NM_006000.3(TUBA4A): c.1220G> A (p.Trp407Ter) single nucleotide variant Pathogenic rs730880027 2:220115201-220115201 2:219250479-219250479
4 TUBA4A NM_006000.3(TUBA4A): c.1147G> A (p.Ala383Thr) single nucleotide variant Pathogenic rs368743618 2:220115274-220115274 2:219250552-219250552
5 TUBA4A NM_006000.3(TUBA4A): c.433A> C (p.Thr145Pro) single nucleotide variant Pathogenic rs730880029 2:220115988-220115988 2:219251266-219251266

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia:

74
# Symbol AA change Variation ID SNP ID
1 TUBA4A p.Thr145Pro VAR_072714 rs730880029
2 TUBA4A p.Arg215Cys VAR_072715 rs730880028
3 TUBA4A p.Arg320Cys VAR_072716 rs730880025
4 TUBA4A p.Arg320His VAR_072717 rs730880026
5 TUBA4A p.Ala383Thr VAR_072718 rs368743618

Expression for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Pathways related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 TUBA4B TUBA4A
2
Show member pathways
11.79 TUBA4B TUBA4A
3
Show member pathways
11.75 TUBA4B TUBA4A
4
Show member pathways
11.54 TUBA4B TUBA4A
5
Show member pathways
11.42 TUBA4B TUBA4A
6
Show member pathways
11.24 TUBA4B TUBA4A
7
Show member pathways
10.99 TUBA4B TUBA4A
8 10.6 TUBA4B TUBA4A

GO Terms for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

Cellular components related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 8.62 TUBA4B TUBA4A

Biological processes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 8.96 TUBA4B TUBA4A
2 microtubule-based process GO:0007017 8.62 TUBA4B TUBA4A

Molecular functions related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.16 TUBA4B TUBA4A
2 GTPase activity GO:0003924 8.96 TUBA4B TUBA4A
3 structural constituent of cytoskeleton GO:0005200 8.62 TUBA4B TUBA4A

Sources for Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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