ALS22
MCID: AMY099
MIFTS: 27

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 73
Als22 57 75
Amyotrophic Lateral Sclerosis 22, with or Without Frontotemporal Dementia 75

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:

OMIM 57 616208
MeSH 44 D000690
SNOMED-CT via HPO 69 263681008 230270009 86044005
UMLS 73 C4015512

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

UniProtKB/Swiss-Prot : 75 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 amyotrophic lateral sclerosis and frontotemporal dementia

Description from OMIM: 616208

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

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

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

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

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

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 focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.16 STK16 TUBA4B
2 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 9.13 STK16 TUBA4A 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...

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

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

75
# 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

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

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

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
11.92 TUBA4A TUBA4B
2
Show member pathways
11.79 TUBA4A TUBA4B
3
Show member pathways
11.75 TUBA4A TUBA4B
4
Show member pathways
11.54 TUBA4A TUBA4B
5
Show member pathways
11.42 TUBA4A TUBA4B
6
Show member pathways
11.24 TUBA4A TUBA4B
7
Show member pathways
10.99 TUBA4A TUBA4B
8 10.6 TUBA4A TUBA4B

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 TUBA4A TUBA4B

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 TUBA4A TUBA4B
2 microtubule-based process GO:0007017 8.62 TUBA4A TUBA4B

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 TUBA4A TUBA4B
2 GTPase activity GO:0003924 8.96 TUBA4A TUBA4B
3 structural constituent of cytoskeleton GO:0005200 8.62 TUBA4A TUBA4B

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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