Preferred Label : Tremor, hereditary essential, 1;
Symbol : ETM1;
CISMeF acronym : ETM1; FET1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Tremor, familial essential, 1; FET1;
Description : Dominantly inherited essential tremor was recognized by Dana (1887). It may be the
most common human movement disorder. The main feature of essential tremor is postural
tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also
may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes,
the condition may cause a functional disability or even incapacitation. Beta-adrenergic
blocking agents and primidone, established treatments for the disorder, are only partially
effective and have significant side effects. Autosomal dominant inheritance can be
demonstrated in most families. Deng et al. (2007) provided a detailed review of the
genetics of essential tremor. - Genetic Heterogeneity of Essential Tremor Other mapped
loci for hereditary essential tremor include ETM2 (602134) on chromosome 2p25-p22
and ETM3 (611456) on chromosome 6p23. ETM4 (614782) is caused by mutation in the FUS
gene (137070) on chromosome 16p11.;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the dopamine receptor D3 gene (DRD3, 126451.0001);
Prefixed ID : #190300;
Origin ID : 190300;
UMLS CUI : C1860861;
Broader ORDO disease(s)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
