Details of Disease

General Information of Disease (ID: DIS4ZW1V)

Disease Name Amyotrophic lateral sclerosis type 5
Synonyms amyotrophic lateral sclerosis 5, juvenile; amyotrophic lateral sclerosis caused by mutation in SPG11; ALS5; SPG11 amyotrophic lateral sclerosis; amyotrophic lateral sclerosis 5
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISKDZC9: Juvenile amyotrophic lateral sclerosis
DIS4ZW1V: Amyotrophic lateral sclerosis type 5
Disease Identifiers
MONDO ID
MONDO_0011196
UMLS CUI
C1865864
OMIM ID
602099
MedGen ID
356388

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPG11 OTZ7LJX4 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.