Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616208

MedGen ⁴² C4015512 CN225414

MeSH ⁴⁴ D000690

SNOMED-CT via HPO ⁶⁹ 263681008 230270009

UMLS ⁷³ C4015512

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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 frontotemporal dementia and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance

Description from OMIM: 616208

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

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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	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 G1 DNA content	GR00098-A-1	9.13	STK16 TUBA4A TUBA4B
3	Increased number of mitotic cells	GR00098-A-3	8.62	STK16 TUBA4B

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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

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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

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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

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

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

Genes related to Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TUBA4A	Tubulin Alpha 4a	Protein Coding	1330.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25374358
2	STK16	Serine/Threonine Kinase 16	Protein Coding	9.19	GeneCards inferred via : Variants (show sections)
3	TUBA4B	Tubulin Alpha 4b	Protein Coding	8.49	GeneCards inferred via : Variants (show sections)

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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

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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.

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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	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹ Pathogenic Escherichia coli infection ³⁷	11.92	TUBA4A TUBA4B
2	Chaperonin-mediated protein folding ⁶⁶ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁶ Protein folding ⁶⁶	11.79	TUBA4A TUBA4B
3	EphB-EphrinB Signaling ⁶⁴ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²² Ephrin-Eph Signaling ⁶⁴	11.75	TUBA4A TUBA4B
4	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	11.54	TUBA4A TUBA4B
5	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway ²² Show member pathways Parkin-Ubiquitin Proteasomal System pathway ¹	11.42	TUBA4A TUBA4B
6	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶	11.24	TUBA4A TUBA4B
7	Cytoskeleton remodeling Neurofilaments ²² Show member pathways Cytoskeleton remodeling Keratin filaments ²²	10.99	TUBA4A TUBA4B
8	Cell cycle_Spindle assembly and chromosome separation ²²	10.6	TUBA4A TUBA4B

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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	9.26	TUBA4A TUBA4B
2	mitotic cell cycle	GO:0000278	9.16	TUBA4A TUBA4B
3	microtubule cytoskeleton organization	GO:0000226	8.96	TUBA4A TUBA4B
4	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

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