Details of Disease

General Information of Disease (ID: DISZGLRJ)

Disease Name Amyotrophic lateral sclerosis type 16
Synonyms amyotrophic lateral sclerosis 16, juvenile; amyotrophic lateral sclerosis 16; SIGMAR1 amyotrophic lateral sclerosis; amyotrophic lateral sclerosis caused by mutation in SIGMAR1; ALS16
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISKDZC9: Juvenile amyotrophic lateral sclerosis
DISZGLRJ: Amyotrophic lateral sclerosis type 16
Disease Identifiers
MONDO ID
MONDO_0013715
UMLS CUI
C3280587
OMIM ID
614373
MedGen ID
482217

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
SIGMAR1 TT5TPI6 Limited CausalMutation [1]
SIGMAR1 TT5TPI6 Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SIGMAR1 OTDORW5C Strong Autosomal recessive [2]
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References

1 Molecular diagnostic experience of whole-exome sequencing in adult patients.Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.
2 A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12.