Details of Disease

General Information of Disease (ID: DISJTD4Y)

Disease Name Amyotrophic lateral sclerosis type 21
Synonyms
myopathy, distal, 2, formerly; vocal cord and pharyngeal dysfunction with distal myopathy; vocal cord and pharyngeal dysfunction with distal myopathy, formerly; myopathy, distal, 2; amyotrophic lateral sclerosis 21; amyotrophic lateral sclerosis caused by mutation in MATR3; ALS21; MATR3 amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 21
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISJTD4Y: Amyotrophic lateral sclerosis type 21
Disease Identifiers
MONDO ID
MONDO_0011632
UMLS CUI
C3807521
OMIM ID
606070
MedGen ID
813851

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
MATR3 OTESJ5S7 Strong Autosomal dominant [1]
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References

1 Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.