MCID: TRM017
MIFTS: 19

Tremor, Hereditary Essential, 4 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Tremor, Hereditary Essential, 4

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Aliases & Descriptions for Tremor, Hereditary Essential, 4:

Name: Tremor, Hereditary Essential, 4 52 24 12 68
Tremor, Hereditary Essential 4 70 27
 
Hereditary Essential Tremor 4 24
Etm4 70

Characteristics:

HPO:

64
tremor, hereditary essential, 4:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614782
MeSH39 D020329

Summaries for Tremor, Hereditary Essential, 4

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UniProtKB/Swiss-Prot:70 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, action tremor and action tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein).

Description from OMIM:52 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 tremor10.9

Symptoms & Phenotypes for Tremor, Hereditary Essential, 4

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Symptoms by clinical synopsis from OMIM:

614782

Clinical features from OMIM:

614782

Human phenotypes related to Tremor, Hereditary Essential, 4:

 64
id Description HPO Frequency HPO Source Accession
1 postural tremor64 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, 427
2 Hereditary Essential Tremor 424 FUS

Anatomical Context for Tremor, Hereditary Essential, 4

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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:

70
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)SNVPathogenicrs267606832GRCh37Chr 16, 31196382: 31196382
2FUSNM_004960.3(FUS): c.1292C> T (p.Pro431Leu)SNVPathogenicrs186547381GRCh37Chr 16, 31201719: 31201719
3FUSNM_004960.3(FUS): c.868C> T (p.Gln290Ter)SNVPathogenicrs387907274GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet