Details of Disease

General Information of Disease (ID: DISPC5KJ)

Disease Name Amyotrophic lateral sclerosis type 18
Synonyms amyotrophic lateral sclerosis 18; amyotrophic lateral sclerosis type 18; amyotrophic lateral sclerosis caused by mutation in PFN1; ALS18; PFN1 amyotrophic lateral sclerosis
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISPC5KJ: Amyotrophic lateral sclerosis type 18
Disease Identifiers
MONDO ID
MONDO_0013891
UMLS CUI
C3553719
OMIM ID
614808
MedGen ID
766633

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
PFN1 OTHTGA1H Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.