ALS26
MCID: AMY114
MIFTS: 11

Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia (ALS26)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia 57 6
Als26 57

Classifications:



External Ids:

OMIM® 57 619133

Summaries for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

OMIM® : 57 Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 (605078)-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by Mackenzie et al., 2017). For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). (619133) (Updated 05-Apr-2021)

MalaCards based summary : Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia, is also known as als26. An important gene associated with Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia is TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein). Affiliated tissues include spinal cord.

Related Diseases for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Clinical features from OMIM®:

619133 (Updated 05-Apr-2021)

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Anatomical Context for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia:

40
Spinal Cord

Publications for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia:

# Title Authors PMID Year
1
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. 6 57
28817800 2017
2
Clinical and neuropathological features of ALS/FTD with TIA1 mutations. 57
29216908 2017

Variations for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TIA1 A381T Variation Pathogenic 992596 GRCh37:
GRCh38:

Expression for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

Sources for Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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