Details of Disease

General Information of Disease (ID: DISACI32)

Disease Name Amyotrophic lateral sclerosis type 22
Synonyms
ALS22; amyotrophic lateral sclerosis caused by mutation in TUBA4A; ALS 22; amyotrophic lateral sclerosis 22; amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; TUBA4A amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 22
Definition Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.
Disease Hierarchy
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DISACI32: Amyotrophic lateral sclerosis type 22
Disease Identifiers
MONDO ID
MONDO_0014531
UMLS CUI
C4015512
OMIM ID
616208
MedGen ID
863949

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
TUBA4A OTWDBVZ4 Moderate Autosomal dominant [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.