Details of Disease

General Information of Disease (ID: DIS9LTNM)

Disease Name Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Synonyms frontotemporal dementia and/or amyotrophic lateral sclerosis 2; frontotemporal dementia and/or amyotrophic lateral sclerosis type 2; FTDALS2
Definition
An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
Disease Hierarchy
DISPZM6A: Frontotemporal dementia with motor neuron disease
DISWZ9CJ: Familial amyotrophic lateral sclerosis
DIS2B7L2: Frontotemporal dementia and/or amyotrophic lateral sclerosis
DIS9LTNM: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Disease Identifiers
MONDO ID
MONDO_0014395
UMLS CUI
C4014648
OMIM ID
615911
MedGen ID
863085

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
CHCHD10 OTCDHAM6 Strong Autosomal dominant [1]
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References

1 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain. 2014 Aug;137(Pt 8):2329-45. doi: 10.1093/brain/awu138. Epub 2014 Jun 16.