Details of Disease

General Information of Disease (ID: DISA3XPU)

Disease Name Amyotrophic lateral sclerosis type 8
Synonyms amyotrophic lateral sclerosis type 8; ALS8; amyotrophic lateral sclerosis 8; VAPB amyotrophic lateral sclerosis; amyotrophic lateral sclerosis caused by mutation in VAPB
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISA3XPU: Amyotrophic lateral sclerosis type 8
Disease Identifiers
MONDO ID
MONDO_0012077
MESH ID
C563895
UMLS CUI
C1837728
OMIM ID
608627
MedGen ID
325237
SNOMED CT ID
1204350002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VAPB OT9ZTZH0 Definitive Autosomal dominant [1]
OSBP OT7R0OQQ Strong Biomarker [2]
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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.
2 The amyotrophic lateral sclerosis 8 protein, VAP, is required for ER protein quality control.Hum Mol Genet. 2014 Apr 15;23(8):1975-89. doi: 10.1093/hmg/ddt594. Epub 2013 Nov 23.