TREMOR, HEREDITARY ESSENTIAL, 4

General Information (adopted from Orphanet):

Synonyms, Signs: ETM4
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614782
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002174) Postural tremor 22 / 7739
2
(HPO:0002345) Action tremor 11 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Merner et al. (2012) reported a large multigenerational family with essential tremor. The age at onset was variable, ranging from the first to the fifth decade. Life expectancy was normal, and several patients over the average age of ...
Molecular genetics OMIM In affected members of a large family with hereditary essential tremor, Merner et al. (2012) identified a heterozygous mutation in the FUS gene (Q290X; 137070.0011). The mutation segregated with the disorder in all patients who were determined to ...