ETM1
MCID: TRM024
MIFTS: 28

Tremor, Hereditary Essential, 1 (ETM1)

Categories: Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Tremor, Hereditary Essential, 1

MalaCards integrated aliases for Tremor, Hereditary Essential, 1:

Name: Tremor, Hereditary Essential, 1 58 74
Etm1 58 54 76
Fet1 58 54
Tremor, Essential, Hereditary, Type 1 41
Tremor, Familial Essential, 1; Fet1 58
Essential Tremor, Hereditary, 1 58
Tremor Hereditary Essential, 1 54
Tremor, Hereditary Essential 1 76
Tremor, Familial Essential, 1 58
Hereditary Essential Tremor 1 30
Tremor Familial Essential, 1 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
age at onset ranges from 50 to 70 years
penetrance is usually complete by age 65 years
favorable response to alcohol in about 50%
prevalence of essential tremor ranges from 0.4 to 6% in the general population


HPO:

33
tremor, hereditary essential, 1:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 190300
MeSH 45 D020329
MedGen 43 C1860861
UMLS 74 C1860861

Summaries for Tremor, Hereditary Essential, 1

OMIM : 58 Essential tremor 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. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997). Deng et al. (2007) provided a detailed review of the genetics of essential tremor. (190300)

MalaCards based summary : Tremor, Hereditary Essential, 1, also known as etm1, is related to essential tremor and tremor, hereditary essential, 5. An important gene associated with Tremor, Hereditary Essential, 1 is DRD3 (Dopamine Receptor D3). The drugs Phenylephrine and Oxymetazoline have been mentioned in the context of this disorder. Affiliated tissues include tongue and spinal cord, and related phenotypes are dysarthria and postural tremor

UniProtKB/Swiss-Prot : 76 Tremor, hereditary essential 1: A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant.

Related Diseases for Tremor, Hereditary Essential, 1

Diseases in the Tremor family:

Tremor, Hereditary Essential, 1 Tremor, Hereditary Essential, 2
Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4
Tremor, Hereditary Essential, 5 Essential Tremor

Diseases related to Tremor, Hereditary Essential, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 essential tremor 11.4
2 tremor, hereditary essential, 5 11.2
3 tremor 10.1

Symptoms & Phenotypes for Tremor, Hereditary Essential, 1

Human phenotypes related to Tremor, Hereditary Essential, 1:

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 postural tremor 33 HP:0002174
3 hand tremor 33 HP:0002378

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor, action (arms, tongue, head, legs and trunk)
tremor, postural (arms, tongue, head, legs and trunk)
fine rapid hand tremor, 4-12 hz

Clinical features from OMIM:

190300

Drugs & Therapeutics for Tremor, Hereditary Essential, 1

Drugs for Tremor, Hereditary Essential, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenylephrine Approved Phase 3,Phase 1 59-42-7 6041
2
Oxymetazoline Approved, Investigational Phase 3,Phase 1 1491-59-4 4636
3 Autonomic Agents Phase 3,Phase 2,Phase 1
4
Salmeterol xinafoate Phase 3,Phase 2,Phase 1 94749-08-3 56801
5 Adrenergic Agonists Phase 3,Phase 2,Phase 1
6 Adrenergic beta-2 Receptor Agonists Phase 3,Phase 2,Phase 1
7 Adrenergic beta-Agonists Phase 3,Phase 2,Phase 1
8 Adrenergic Agents Phase 3,Phase 2,Phase 1
9 Bromides Phase 3,Phase 2,Phase 1
10 Tiotropium Bromide Phase 3,Phase 2,Phase 1 136310-93-5
11 Anti-Asthmatic Agents Phase 3,Phase 2,Phase 1
12 Parasympatholytics Phase 3,Phase 2,Phase 1
13 Cholinergic Antagonists Phase 3,Phase 2,Phase 1
14 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
15 Respiratory System Agents Phase 3,Phase 2,Phase 1
16 Bronchodilator Agents Phase 3,Phase 2,Phase 1
17 Cholinergic Agents Phase 3,Phase 2,Phase 1
18 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
19 Anticonvulsants Phase 2,Phase 1
20
Bisacodyl Approved Phase 1 603-50-9
21
Empagliflozin Approved Phase 1 864070-44-0
22
Glimepiride Approved Phase 1 93479-97-1 3476
23
Olodaterol Approved Phase 1 868049-49-4
24
Ciclesonide Approved, Investigational Phase 1 126544-47-6, 141845-82-1 444033
25
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
26
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
27
Linagliptin Approved Phase 1 668270-12-0 10096344
28
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
29
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
30
Metformin Approved Phase 1 657-24-9 14219 4091
31
Rifampicin Approved Phase 1 13292-46-1 5381226 5458213
32
Digoxin Approved Phase 1 20830-75-5 2724385 30322
33
Hydrochlorothiazide Approved, Vet_approved Phase 1 58-93-5 3639
34
Telmisartan Approved, Investigational Phase 1 144701-48-4 65999
35
Angiotensin II Approved, Investigational Phase 1 11128-99-7, 68521-88-0, 4474-91-3 172198
36
Scopolamine Approved, Investigational Phase 1 51-34-3, 6533-68-2 5184
37
Nintedanib Approved Phase 1 656247-17-5 56843413
38
Serine Approved, Nutraceutical Phase 1 56-45-1 5951
39
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
40
Dabigatran Investigational Phase 1 211914-51-1
41 Picosulfate sodium Phase 1
42 Cathartics Phase 1
43 Laxatives Phase 1
44 Gastrointestinal Agents Phase 1
45 Antithrombins Phase 1
46
protease inhibitors Phase 1
47 Anticoagulants Phase 1
48 HIV Protease Inhibitors Phase 1
49 Antithrombin III Phase 1
50 Serine Proteinase Inhibitors Phase 1

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Tiotropium and Salmeterol PK Study in COPD Patients Completed NCT00673478 Phase 3 Tiotropium+Salmeterol;Salmeterol;Tiotropium
2 Pharmacokinetics and Safety Comparison of Tiotropium Inhalation Powder Administered as the Bromide Salt From Hard Polyethylene Capsule Via the HandiHaler® 2 and Spiriva® HandiHaler® in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02242266 Phase 2 Tiotropium low dose;Tiotropium medium dose;Spiriva® HandiHaler® high dose;Placebo via the blue HandiHaler®;Placebo via the grey HandiHaler®
3 Efficacy, Pharmacokinetics and Safety Comparison of Salmeterol Inhalation Powder Administered Via the HandiHaler® 2 and Serevent® Diskus® in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02242227 Phase 2 Salmeterol xinafoate;Serevent® Diskus®;Placebo (HandiHaler®);Placebo (Diskus®)
4 Salmeterol Inhalation Powder Administered as the Xinafoate Salt From Hard Polyethylene Capsules Via the HandiHaler® 2, and Serevent® Diskus® in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02238106 Phase 2 Salmeterol medium dose;Salmeterol low dose;Salmeterol high dose;Serevent® Diskus®;Placebo HandiHaler®;Placebo Diskus®
5 Pharmacokinetics of Bisacodyl or Sodium Picosulfate Administered Orally in Healthy Lactating Females Completed NCT02211911 Phase 1 Bisacodyl;Sodium picosulfate
6 Safety, Pharmacokinetics and Pharmacodynamics of BIBR 1048 MS Capsule in Healthy Male Subjects of Japanese and Caucasian Origin Completed NCT02170909 Phase 1 BIBR 1048 MS low dose;BIBR 1048 MS medium dose;BIBR 1048 MS high dose
7 Safety, Tolerability and Pharmacokinetics of Tiotropium in Cystic Fibrosis Patients Completed NCT02172534 Phase 1 Tiotropium bromide low;Tiotropium bromide medium;Tiotropium bromide high;Placebo
8 Relative Bioavailability of BI 10773 and Glimepiride in Healthy Male Volunteers Completed NCT02172261 Phase 1 BI 10773;Glimepiride
9 Safety, Pharmacokinetics and Pharmacodynamics After Multiple Oral Doses of BIBR 1048 MS Capsule in Healthy Japanese Male Subjects Completed NCT02171000 Phase 1 BIBR 1048 MS
10 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Rising Oral Doses of BI 135585 XX in Patients With Type 2 Diabetes Completed NCT01282970 Phase 1 BI 135585;Placebo to BI 135585
11 A Study to Characterize Pharmacokinetics of Tiotropium + Olodaterol Fixed-dose Combination in Japanese Patients With COPD. Completed NCT01703845 Phase 1 Tiotropium (high dose) + Olodaterol;Tiotropium (low dose) + Olodaterol
12 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Multiple, Rising Oral Doses of BI 11634 Oral Solution in Healthy Male Volunteers Completed NCT02214940 Phase 1 BI 11634;Placebo
13 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BI 1744 CL in Healthy Male and Female Volunteers Completed NCT02171806 Phase 1 BI 1744 CL;Placebo
14 BI 1744 CL in Patients With Severe Renal Impairment in Comparison to Subjects With Normal Renal Function Completed NCT02172118 Phase 1 BI 1774 CL
15 Single Dose of BI 1744 CL in Patients With Mild and Moderate Hepatic Impairment Compared to Subjects With Normal Hepatic Function Completed NCT02171832 Phase 1 BI 1744 CL, low dose;BI 1744 CL, high dose
16 Safety, Tolerability and Pharmacokinetics of Multiple Rising Doses of Butylated Hydroxytoluene and BI 54903 XX Via Respimat® Soft MistTM Inhaler B in Healthy Male Volunteers Completed NCT02221375 Phase 1 BHT low;BHT medium;BHT high;BI 54903 XX low;BI 54903 XX medium 1;BI 54903 XX medium 2;BI 54903 XX high;Ciclesonide
17 Relative Bioavailability of BI 44847 in Different Ethnic Groups and Evaluation of Effect of Diet and Acarbose Coadministration on Bioavailability Following Oral Administration of 200 mg BI 44847 in Healthy Male Volunteers Completed NCT02211950 Phase 1 BI 44847;Acarbose
18 Bioavailability of BI 1356 After Co-administration With Ritonavir Compared to the Bioavailability of BI 1356 Alone in Healthy Male Volunteers Completed NCT02183441 Phase 1 BI 1356;Ritonavir
19 Safety, Tolerability and Pharmacokinetics of Single Rising Inhaled Doses of BI 11054 CL Administered With the Respimat® in Healthy Male Volunteers Completed NCT02273401 Phase 1 BI 11054 CL;Placebo
20 Safety, Tolerability and Pharmacokinetics of BI 44370 TA Oral Drinking Solution in Healthy Male Volunteers Completed NCT02215018 Phase 1 BI 44370 TA solution;BI 44370 TA tablet;Placebo solution;Placebo tablet
21 Safety, Tolerability and Pharmacokinetics of Single Rising Oral Doses of BI 113823 Powder in Bottle (PiB) and Tablet in Healthy Male Volunteers Completed NCT02259972 Phase 1 BI 113823 solution;BI 113823 tablet;Placebo
22 Safety, Tolerability and Pharmacokinetics of BI 34021 FU2 Oral Drinking Solution in Healthy Male Volunteers Completed NCT02259842 Phase 1 BI 34021 FU2 solution;BI 34021 FU2 tablet;Placebo
23 Safety, Tolerability and Pharmacokinetics of Oral BIBP 5371 CL in Healthy Male and Female Volunteers Completed NCT02256709 Phase 1 BIBP 5371 CL tablet;BIBP 5371 CL solution;Placebo tablet;BIBP 5371 CL tablet high dose;Placebo drinking solution;BIBP 5371 CL tablet low dose
24 Safety, Tolerability and Pharmacokinetics of BEA 2180 BR in Healthy Male Volunteers Completed NCT02254720 Phase 1 BEA 2180 BR solution for infusion;Placebo;BEA 2180 BR solution for inhalation
25 Relative Bioavailability of Tiotropium and Salmeterol After Inhalation of a Fixed Combined Dose Compared to Monocomponents in Healthy Male Volunteers Completed NCT02254174 Phase 1 Tiotropium/Salmeterol;Serevent® Diskus®;Spiriva®
26 Study to Assess Safety, Tolerability and Pharmacokinetics of Single Rising Doses of BEA 2180 BR in Healthy Male Volunteers Completed NCT02254135 Phase 1 BEA 2180 BR - rising dose;Placebo
27 Pharmacokinetics and Pharmacodynamics of Multiple 5 mg Doses of BI 1356 p.o. Given Once Daily Compared to Multiple 2.5 mg Doses Given Twice Daily in Healthy Male and Female Volunteers Completed NCT02173652 Phase 1 BI 1356, high dose;BI 1356, low dose
28 Safety, Tolerability and Pharmacokinetics of BI 653048 H3PO4 Oral Drinking Solution in Healthy Male Volunteers Completed NCT02217644 Phase 1 BI 653048 H3PO4 solution;BI 653048 H3PO4 low dose capsule;BI 653048 H3PO4 high dose capsule;Placebo
29 Safety, Tolerability and Pharmacokinetics of Single Rising Intravenous Doses of BI 44370 BS Solution in Healthy Male Volunteers Completed NCT02215031 Phase 1 BI 44370;Placebo
30 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Rising Oral Doses of BI 11634 Solution in Healthy Male Volunteers Completed NCT02214914 Phase 1 BI 11634 drinking solution;BI 11634 tablet;Placebo
31 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Rising Oral Doses of BI 14332 CL Powder in Healthy Male Subjects Completed NCT02211989 Phase 1 BI 14332 CL;Placebo
32 Relative Oral Bioavailability of BI 44847 as Suspension Compared to Tablet and the Influence of Food Anf of BI 44847 as Solution Compared to Tablet in Healthy Male Volunteers Completed NCT02211937 Phase 1 BI 44847 solution, low dose;BI 44847 suspension, high dose;BI 44847 tablet, low dose;BI 44847 tablet, high dose
33 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Rising Oral Doses of BI 44847 Administered to Healthy Male Subjects Completed NCT02211924 Phase 1 BI 44847;Placebo
34 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Rising Oral Doses of BI 44847 Powder in Healthy Male Subjects Completed NCT02209844 Phase 1 BI 44847;Placebo
35 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Rising Doses of BI 1356 BS in Healthy Male Volunteers Completed NCT02183298 Phase 1 BI 1356 BS - intravenous;BI 1356 BS - Tablet;Placebo
36 Single Rising Oral Doses of BI 10773 in Healthy Male Volunteers Completed NCT02182453 Phase 1 BI 10773 - single rising dose;Placebo
37 Single Rising Oral Doses of BI 207127 NA as Powder in the Bottle in Healthy Male Subjects Completed NCT02182388 Phase 1 Placebo;BI 207127 NA powder for solution;BI 207127 NA tablet
38 Safety, Tolerance, and Pharmacokinetics of Single Oral Doses of BI 201335 NA and Bioavailability in Healthy Male Subjects Completed NCT02182323 Phase 1 BI 201335 NA;Placebo solution
39 Safety, Tolerability, and Pharmacokinetics of BI 201335 NA in Healthy Male Subjects Completed NCT02182297 Phase 1 BI 201335 NA in single rising doses;Placebo
40 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Rising Oral Doses of BI 1356 BS Administered to Healthy Male Subjects Completed NCT02173665 Phase 1 BI 1356 BS - Powder in bottle (PIB);BI 1356 BS - Tablet;Placebo
41 Single Rising Peroral Doses of BI 1744 CL in Healthy Volunteers Completed NCT02171793 Phase 1 BI 1744 CL;Placebo
42 Safety, Pharmacodynamics and Pharmacokinetics After Single Oral Administration of Dabigatran Etexilate Capsule in Healthy Subjects Completed NCT02171455 Phase 1 Dabigatran etexilate low dose;Dabigatran etexilate medium dose;Dabigatran etexilate high dose;Placebo
43 Safety, Pharmacokinetics and Pharmacodynamics After Single Rising Oral Doses of BIBR 1048 MS as Capsules in Healthy Subjects of Japanese and Caucasian Origin Completed NCT02170844 Phase 1 BIBR 1048 MS;Placebo of BIBR 1048 MS
44 Relative Bioavailability of Pioglitazone After Co-administration With Different Doses of BI 10773 in Healthy Volunteers Completed NCT02172235 Phase 1 Pioglitazone;Pioglitazone - low dose;BI 10773 - low dose;BI 10773 - medium dose;BI 10773 - high dose
45 Safety, Tolerability and Pharmacokinetics of the Fixed Dose Combination of BI 1744 CL Plus BI 54903 XX Via Respimat® B Versus the Mono Products of BI 1744 CL Via Respimat® A and BI 54903 XX Via Respimat® B in Healthy Male and Female Volunteers Completed NCT02222428 Phase 1 BI 1744 CL/BI 54903 XX FDC;BI 54903 XX;BI 1744 CL
46 Effects of BI 44370 TA Orally Applied as Tablets on the Pharmacokinetics of Orally Administered Midazolam Solution in Healthy Volunteers Completed NCT02217514 Phase 1 Midazolam;BI 44370 low dose;BI 44370 medium dose;BI 44370 high dose
47 Study to Determine Pharmacodynamic Effects and Pharmacokinetics of KUC 7483 CL in Patients With Spinal Cord Injury and Neurogenic Detrusor Overactivity Completed NCT02259751 Phase 1 KUC 7483 CL;Placebo
48 Pharmacokinetics of Salmeterol (Serevent®) After Inhalation With Metered Dose Inhaler (MDI) and Diskus® in Healthy Male Volunteers Completed NCT02254226 Phase 1 Salmeterol Diskus low;Salmeterol Diskus high;Salmeterol MDI low;Salmeterol MDI high
49 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single Rising Oral Doses and Multiple Rising Oral Doses of BI 1356 BS in Healthy Male Volunteers Completed NCT02183311 Phase 1 BI 1356 BS - single rising dose;BI 1356 BS - multiple rising dose;Placebo
50 Study to Investigate Safety and Tolerability of BI 1744 CL in Free Dose Combination With Tiotropium Bromide Both Administered by Respimat® in Healthy Male Volunteers Completed NCT02259946 Phase 1 BI 1744 CL;Placebo;Tiotropium bromide

Search NIH Clinical Center for Tremor, Hereditary Essential, 1

Genetic Tests for Tremor, Hereditary Essential, 1

Genetic tests related to Tremor, Hereditary Essential, 1:

# Genetic test Affiliating Genes
1 Hereditary Essential Tremor 1 30 DRD3

Anatomical Context for Tremor, Hereditary Essential, 1

MalaCards organs/tissues related to Tremor, Hereditary Essential, 1:

42
Tongue, Spinal Cord

Publications for Tremor, Hereditary Essential, 1

Variations for Tremor, Hereditary Essential, 1

Expression for Tremor, Hereditary Essential, 1

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 1.

Pathways for Tremor, Hereditary Essential, 1

GO Terms for Tremor, Hereditary Essential, 1

Sources for Tremor, Hereditary Essential, 1

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