ALS22
MCID: AMY099
MIFTS: 20

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 56 29 6 71
Als22 56 73
Amyotrophic Lateral Sclerosis 22, with or Without Frontotemporal Dementia 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
limited clinical information provided


HPO:

31
amyotrophic lateral sclerosis 22 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 616208
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
SNOMED-CT via HPO 68 230270009 263681008 86044005
UMLS 71 C4015512

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

UniProtKB/Swiss-Prot : 73 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). 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:

31
# Description HPO Frequency HPO Source Accession
1 frontotemporal dementia 31 occasional (7.5%) HP:0002145
2 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
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. 56 6
25374358 2014
2
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
3
Amyotrophic Lateral Sclerosis Overview 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBA4A NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)SNV Pathogenic 180182 rs730880025 2:220115463-220115463 2:219250741-219250741
2 TUBA4A NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)SNV Pathogenic 180183 rs730880026 2:220115462-220115462 2:219250740-219250740
3 TUBA4A NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)SNV Pathogenic 180184 rs730880027 2:220115201-220115201 2:219250479-219250479
4 TUBA4A NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)SNV Pathogenic 180186 rs368743618 2:220115274-220115274 2:219250552-219250552
5 TUBA4A NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)SNV Pathogenic 180187 rs730880029 2:220115988-220115988 2:219251266-219251266

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

73
# 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...

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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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