MCID: TRM017
MIFTS: 16

Tremor, Hereditary Essential, 4

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tremor, Hereditary Essential, 4

MalaCards integrated aliases for Tremor, Hereditary Essential, 4:

Name: Tremor, Hereditary Essential, 4 53 28 13 69
Etm4 53 71
Essential Tremor, Hereditary, 4 53
Tremor, Hereditary Essential 4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
age at onset ranges from first to sixth decade


HPO:

31
tremor, hereditary essential, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614782
MeSH 41 D020329
SNOMED-CT via HPO 65 263681008 56610005
UMLS 69 C3539195

Summaries for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot : 71 Tremor, hereditary essential 4: 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.

MalaCards based summary : Tremor, Hereditary Essential, 4, is also known as etm4, and has symptoms including postural tremor, action tremor and static tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein).

Description from OMIM: 614782

Related Diseases for Tremor, Hereditary Essential, 4

Symptoms & Phenotypes for Tremor, Hereditary Essential, 4

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor, action
tremor, postural


Clinical features from OMIM:

614782

Human phenotypes related to Tremor, Hereditary Essential, 4:

31
# Description HPO Frequency HPO Source Accession
1 postural tremor 31 HP:0002174

UMLS symptoms related to Tremor, Hereditary Essential, 4:


action tremor, static tremor

Drugs & Therapeutics for Tremor, Hereditary Essential, 4

Search Clinical Trials , NIH Clinical Center for Tremor, Hereditary Essential, 4

Genetic Tests for Tremor, Hereditary Essential, 4

Genetic tests related to Tremor, Hereditary Essential, 4:

# Genetic test Affiliating Genes
1 Tremor, Hereditary Essential, 4 28 FUS

Anatomical Context for Tremor, Hereditary Essential, 4

Publications for Tremor, Hereditary Essential, 4

Variations for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot genetic disease variations for Tremor, Hereditary Essential, 4:

71
# Symbol AA change Variation ID SNP ID
1 FUS p.Arg216Cys VAR_068919 rs267606832
2 FUS p.Pro431Leu VAR_068923 rs186547381

ClinVar genetic disease variations for Tremor, Hereditary Essential, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh37 Chromosome 16, 31196382: 31196382
2 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Pathogenic rs186547381 GRCh37 Chromosome 16, 31201719: 31201719
3 FUS NM_004960.3(FUS): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic rs387907274 GRCh37 Chromosome 16, 31200479: 31200479

Expression for Tremor, Hereditary Essential, 4

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 4.

Pathways for Tremor, Hereditary Essential, 4

GO Terms for Tremor, Hereditary Essential, 4

Sources for Tremor, Hereditary Essential, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....