ALS25
MCID: AMY112
MIFTS: 21

Amyotrophic Lateral Sclerosis 25 (ALS25)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 25

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 25:

Name: Amyotrophic Lateral Sclerosis 25 56 73
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 56 29 6
Als25 56 73
Sclerosis, Lateral, Amyotrophic, Type 25 39

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
adult onset, variable

Inheritance:
autosomal dominant


HPO:

31
amyotrophic lateral sclerosis 25:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM 56 617921
OMIM Phenotypic Series 56 PS105400
MeSH 43 D000690
SNOMED-CT via HPO 68 263681008 86044005

Summaries for Amyotrophic Lateral Sclerosis 25

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 25: A form of amyotrophic lateral sclerosis, 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. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance.

MalaCards based summary : Amyotrophic Lateral Sclerosis 25, also known as amyotrophic lateral sclerosis, susceptibility to, 25, is related to motor neuron disease. An important gene associated with Amyotrophic Lateral Sclerosis 25 is KIF5A (Kinesin Family Member 5A). Affiliated tissues include brain, spinal cord and hypothalamus, and related phenotype is amyotrophic lateral sclerosis.

OMIM : 56 Amyotrophic lateral sclerosis is a neurodegenerative disorder clinically characterized by rapidly progressive muscle weakness and death due to respiratory failure. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively) (Nicolas et al., 2018). (617921)

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 25

Human phenotypes related to Amyotrophic Lateral Sclerosis 25:

31
# Description HPO Frequency HPO Source Accession
1 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
amyotrophic lateral sclerosis

Clinical features from OMIM:

617921

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 25

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 25

Genetic Tests for Amyotrophic Lateral Sclerosis 25

Genetic tests related to Amyotrophic Lateral Sclerosis 25:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis, Susceptibility to, 25 29 KIF5A

Anatomical Context for Amyotrophic Lateral Sclerosis 25

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 25:

40
Brain, Spinal Cord, Hypothalamus

Publications for Amyotrophic Lateral Sclerosis 25

Articles related to Amyotrophic Lateral Sclerosis 25:

# Title Authors PMID Year
1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 6 56
29566793 2018
2
Hot-spot KIF5A mutations cause familial ALS. 56 6
29342275 2018
3
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
4
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
5
TDP-43 pathology in the basal forebrain and hypothalamus of patients with amyotrophic lateral sclerosis. 61
25539830 2014

Variations for Amyotrophic Lateral Sclerosis 25

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 25:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF5A NM_004984.4(KIF5A):c.2993-3C>TSNV risk factor 504476 rs1402429085 12:57976382-57976382 12:57582599-57582599
2 KIF5A NM_004984.4(KIF5A):c.3020+2T>ASNV risk factor 504477 rs1218712729 12:57976414-57976414 12:57582631-57582631
3 KIF5A NM_004984.4(KIF5A):c.3020+1G>ASNV risk factor 504478 rs1555179091 12:57976413-57976413 12:57582630-57582630
4 KIF5A NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)SNV risk factor 504479 rs1555179087 12:57976411-57976411 12:57582628-57582628

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 25:

73
# Symbol AA change Variation ID SNP ID
1 KIF5A p.Arg1007Gly VAR_080652 rs155517908

Expression for Amyotrophic Lateral Sclerosis 25

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 25.

Pathways for Amyotrophic Lateral Sclerosis 25

GO Terms for Amyotrophic Lateral Sclerosis 25

Sources for Amyotrophic Lateral Sclerosis 25

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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