Details of Disease

General Information of Disease (ID: DISWEAGF)

Disease Name Tremor, hereditary essential, 4
Synonyms ETM4; tremor, hereditary essential, 4; essential tremor, hereditary, 4; FUS essential tremor; essential tremor caused by mutation in FUS; tremor, hereditary essential, type 4
Definition Any essential tremor in which the cause of the disease is a mutation in the FUS gene.
Disease Hierarchy
DIS7GBKQ: Essential tremor
DISWEAGF: Tremor, hereditary essential, 4
Disease Identifiers
MONDO ID
MONDO_0013888
UMLS CUI
C3539195
OMIM ID
614782
MedGen ID
761337

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
FUS TTKGYZ9 Limited Autosomal dominant [1]
FUS TTKGYZ9 Strong CausalMutation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FUS OTPPNGQO Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.Neurobiol Aging. 2014 Oct;35(10):2423.e1-6. doi: 10.1016/j.neurobiolaging.2014.05.008. Epub 2014 May 11.