Details of Disease

General Information of Disease (ID: DIS8D4LA)

Disease Name Amyotrophic lateral sclerosis type 20
Synonyms ALS20; amyotrophic lateral sclerosis 20; amyotrophic lateral sclerosis type 20; amyotrophic lateral sclerosis caused by mutation in HNRNPA1; HNRNPA1 amyotrophic lateral sclerosis
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DIS8D4LA: Amyotrophic lateral sclerosis type 20
Disease Identifiers
MONDO ID
MONDO_0014181
UMLS CUI
C3715156
OMIM ID
615426
MedGen ID
811608

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HNRNPA1 TTPJ9XK Strong Autosomal dominant [1]
HNRNPA1 TTPJ9XK Strong Genetic Variation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HNRNPA1 OTIRPN6B Strong Autosomal dominant [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.
2 Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.Neurology. 2016 Oct 25;87(17):1763-1769. doi: 10.1212/WNL.0000000000003256. Epub 2016 Sep 30.