Visualize Submit Comment
Metadata
ID DOID:0081379
Name amyotrophic lateral sclerosis type 25
Definition An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. 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).
https://pubmed.ncbi.nlm.nih.gov/29566793/
Xrefs

MIM:617921

Parent Relationships

is_a autosomal dominant disease

is_a amyotrophic lateral sclerosis

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker