MCID: TRM024
MIFTS: 28

Tremor, Hereditary Essential, 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Tremor, Hereditary Essential, 1

MalaCards integrated aliases for Tremor, Hereditary Essential, 1:

Name: Tremor, Hereditary Essential, 1 57 73
Etm1 57 53 75
Fet1 57 53
Tremor, Essential, Hereditary, Type 1 40
Tremor, Familial Essential, 1; Fet1 57
Essential Tremor, Hereditary, 1 57
Tremor Hereditary Essential, 1 53
Tremor, Hereditary Essential 1 75
Tremor, Familial Essential, 1 57
Hereditary Essential Tremor 1 29
Tremor Familial Essential, 1 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
tremor, hereditary essential, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 190300
MedGen 42 C1860861
MeSH 44 D020329
UMLS 73 C1860861

Summaries for Tremor, Hereditary Essential, 1

OMIM : 57 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. An important gene associated with Tremor, Hereditary Essential, 1 is DRD3 (Dopamine Receptor D3). The drugs Oxymetazoline and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include tongue, liver and spinal cord, and related phenotypes are dysarthria and postural tremor

UniProtKB/Swiss-Prot : 75 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 11.2

Symptoms & Phenotypes for Tremor, Hereditary Essential, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor, action (arms, tongue, head, legs and trunk)
tremor, postural (arms, tongue, head, legs and trunk)
fine rapid hand tremor, 4-12 hz
dysarthria


Clinical features from OMIM:

190300

Human phenotypes related to Tremor, Hereditary Essential, 1:

32
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 postural tremor 32 HP:0002174
3 hand tremor 32 HP:0002378

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 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxymetazoline Approved, Investigational Phase 3,Phase 1 1491-59-4 4636
2
Phenylephrine Approved Phase 3,Phase 1 59-42-7 6041
3 Adrenergic Agents Phase 3,Phase 2,Phase 1
4 Adrenergic Agonists Phase 3,Phase 2,Phase 1
5 Adrenergic beta-2 Receptor Agonists Phase 3,Phase 2,Phase 1
6 Adrenergic beta-Agonists Phase 3,Phase 2,Phase 1
7 Anti-Asthmatic Agents Phase 3,Phase 2,Phase 1
8 Autonomic Agents Phase 3,Phase 2,Phase 1
9 Bromides Phase 3,Phase 2,Phase 1
10 Bronchodilator Agents Phase 3,Phase 2,Phase 1
11 Cholinergic Agents Phase 3,Phase 2,Phase 1
12 Cholinergic Antagonists Phase 3,Phase 2,Phase 1
13 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
14 Parasympatholytics Phase 3,Phase 2,Phase 1
15 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
16 Respiratory System Agents Phase 3,Phase 2,Phase 1
17
Salmeterol xinafoate Phase 3,Phase 2,Phase 1 94749-08-3 56801
18 Tiotropium Bromide Phase 3,Phase 2,Phase 1 136310-93-5
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
Linagliptin Approved Phase 1 668270-12-0 10096344
27
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
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 5458213 5381226
32
Digoxin Approved Phase 1 20830-75-5 30322 2724385
33
Angiotensin II Approved, Investigational Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
34
Hydrochlorothiazide Approved, Vet_approved Phase 1 58-93-5 3639
35
Telmisartan Approved, Investigational Phase 1 144701-48-4 65999
36
Nintedanib Approved Phase 1 656247-17-5 56843413
37
Serine Approved, Nutraceutical Phase 1 56-45-1 5951
38
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
39 Cathartics Phase 1
40 Gastrointestinal Agents Phase 1
41 Laxatives Phase 1
42 Picosulfate sodium Phase 1
43 Anticoagulants Phase 1
44 Antithrombin III Phase 1
45 Antithrombins Phase 1
46 Dabigatran Phase 1
47 HIV Protease Inhibitors Phase 1
48
protease inhibitors Phase 1
49 Serine Proteinase Inhibitors Phase 1
50 Anti-Arrhythmia Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 74)
# 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 To Investigate the Safety, Tolerability, Pharmacokinetics and the Relative Bioavailability of BI 1026706 Completed NCT01763333 Phase 1 BI 1026706 Placebo;BI 1026706;BI 1026706
12 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
13 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
14 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BI 1744 CL in Healthy Male and Female Volunteers Completed NCT02171806 Phase 1 BI 1744 CL;Placebo
15 BI 1744 CL in Patients With Severe Renal Impairment in Comparison to Subjects With Normal Renal Function Completed NCT02172118 Phase 1 BI 1774 CL
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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®
27 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
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 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
36 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
37 Single Rising Oral Doses of BI 10773 in Healthy Male Volunteers Completed NCT02182453 Phase 1 BI 10773 - single rising dose;Placebo
38 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
39 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
40 Safety, Tolerability, and Pharmacokinetics of BI 201335 NA in Healthy Male Subjects Completed NCT02182297 Phase 1 BI 201335 NA in single rising doses;Placebo
41 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
42 Single Rising Peroral Doses of BI 1744 CL in Healthy Volunteers Completed NCT02171793 Phase 1 BI 1744 CL;Placebo
43 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
44 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
45 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
46 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
47 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
48 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
49 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
50 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

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 29 DRD3

Anatomical Context for Tremor, Hereditary Essential, 1

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

41
Tongue, Liver, 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

3 CDC
7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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