You are using an outdated browser. Please upgrade your browser to improve your experience.

amyotrophic lateral sclerosis type 20

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.
Uniprot Description 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.
Disease Ontology Description An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the HNRNPA1 gene on chromosome 12.
Mondo Term and Equivalent IDs
MONDO:0014181:  amyotrophic lateral sclerosis type 20
UMLS:C3715156: