MCID: TRM017
MIFTS: 18

Tremor, Hereditary Essential, 4 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Tremor, Hereditary Essential, 4

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Aliases & Descriptions for Tremor, Hereditary Essential, 4:

Name: Tremor, Hereditary Essential, 4 50 23 12
Tremor, Hereditary Essential 4 68 25
 
Hereditary Essential Tremor 4 23
Etm4 68

Characteristics:

HPO:

62
tremor, hereditary essential, 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614782
MeSH37 D020329

Summaries for Tremor, Hereditary Essential, 4

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UniProtKB/Swiss-Prot:68 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, also known as tremor, hereditary essential 4, is related to essential tremor, and has symptoms including action tremor, static tremor and postural tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein).

Description from OMIM:50 614782

Related Diseases for Tremor, Hereditary Essential, 4

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Diseases in the Tremor family:

Tremor, Hereditary Essential, 2 Essential Tremor
Tremor, Hereditary Essential, 3 tremor, hereditary essential, 4
Hereditary Essential Tremor 5

Diseases related to Tremor, Hereditary Essential, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1essential tremor10.0

Symptoms for Tremor, Hereditary Essential, 4

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Symptoms by clinical synopsis from OMIM:

614782

Clinical features from OMIM:

614782

HPO human phenotypes related to Tremor, Hereditary Essential, 4:

id Description Frequency HPO Source Accession
1 postural tremor HP:0002174

UMLS symptoms related to Tremor, Hereditary Essential, 4:


action tremor, static tremor

Drugs & Therapeutics for Tremor, Hereditary Essential, 4

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Interventional clinical trials:

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

Genetic Tests for Tremor, Hereditary Essential, 4

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Genetic tests related to Tremor, Hereditary Essential, 4:

id Genetic test Affiliating Genes
1 Tremor, Hereditary Essential, 425
2 Hereditary Essential Tremor 423 FUS

Anatomical Context for Tremor, Hereditary Essential, 4

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Animal Models for Tremor, Hereditary Essential, 4 or affiliated genes

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Publications for Tremor, Hereditary Essential, 4

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Variations for Tremor, Hereditary Essential, 4

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

68
id Symbol AA change Variation ID SNP ID
1FUSp.Arg216CysVAR_068919rs267606832
2FUSp.Pro431LeuVAR_068923rs186547381

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FUSNM_004960.3(FUS): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs267606832GRCh37Chr 16, 31196382: 31196382
2FUSNM_004960.3(FUS): c.1292C> T (p.Pro431Leu)single nucleotide variantPathogenicrs186547381GRCh37Chr 16, 31201719: 31201719
3FUSNM_004960.3(FUS): c.868C> T (p.Gln290Ter)single nucleotide variantPathogenicrs387907274GRCh37Chr 16, 31200479: 31200479

Expression for genes affiliated with Tremor, Hereditary Essential, 4

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

Pathways for genes affiliated with Tremor, Hereditary Essential, 4

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GO Terms for genes affiliated with Tremor, Hereditary Essential, 4

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Sources for Tremor, Hereditary Essential, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet