Details of Disease

General Information of Disease (ID: DIS4MZSO)

Disease Name Amyotrophic lateral sclerosis type 15
Synonyms
amyotrophic lateral sclerosis 15 with or without frontotemporal dementia; amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant; UBQLN2 amyotrophic lateral sclerosis; ALS15; amyotrophic lateral sclerosis type 15; amyotrophic lateral sclerosis caused by mutation in UBQLN2; amyotrophic lateral sclerosis 15, with or without frontotemporal dementia; amyotrophic lateral sclerosis 15
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DIS4MZSO: Amyotrophic lateral sclerosis type 15
Disease Identifiers
MONDO ID
MONDO_0010459
UMLS CUI
C3275459
OMIM ID
300857
MedGen ID
477090

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
UBQLN2 OT7VD5NH Definitive X-linked [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.