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 49 11 22 65
Tremor, Hereditary Essential 4 67 24
 
Hereditary Essential Tremor 4 22
Etm4 67

Characteristics:

HPO:

61
tremor, hereditary essential, 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 614782
MeSH36 D020329
UMLS65 C3539195

Summaries for Tremor, Hereditary Essential, 4

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UniProtKB/Swiss-Prot:67 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 postural tremor, static tremor and static tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein).

Description from OMIM:49 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

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:


static tremor, action 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 Hereditary Essential Tremor 422 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:

67
id Symbol AA change Variation ID SNP ID
1FUSp.Arg216CysVAR_068919
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet