MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Essential Tremor (D020329)
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TREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)

       Child Nodes:



 Sister Nodes: 
..expandTremor hereditary essential, 1 (C536545)
..expandTremor, Hereditary Essential, 3 (C566949)
..expandTREMOR, HEREDITARY ESSENTIAL, 4 (OMIM:614782)
..expandTREMOR, HEREDITARY ESSENTIAL, 5 (OMIM:616736)
..expandTremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus (C567519)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12303
Name:TREMOR, HEREDITARY ESSENTIAL, 5
Definition:
Alternative IDs:
ParentIDs:MESH:D020329
TreeNumbers:C10.228.662.350/616736
Synonyms:ETM5
Slim Mappings:Nervous system disease
Reference: MedGen: 616736
MeSH: 616736
OMIM: 616736;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003831Age-dependent penetrance
3 HP:0002080Intention tremor
4 HP:0002174Postural tremor
5 HP:0003677Slow progression
6 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001098816.3(TENM4):c.7509C>T (p.Leu2503=)26011TENM4Benign-1RCV001636494|RCV001838723; NMedGen:CN517202|MONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117837253678372536GA78372536-
NM_001098816.3(TENM4):c.7191G>A (p.Gln2397=)26011TENM4Benign-1RCV001838950; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117838019978380199CT78380199-
NM_001098816.3(TENM4):c.6668T>C (p.Leu2223Pro)26011TENM4Uncertain significancers950098538RCV001197189; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117838072278380722AG11:g.78380722A>G-
NM_001098816.3(TENM4):c.5287G>A (p.Gly1763Arg)26011TENM4Benign-1RCV001554300; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117838740678387406CT78387406-
NM_001098816.3(TENM4):c.5238C>T (p.Gly1746=)26011TENM4Benign-1RCV001838951; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117839912178399121GA78399121-
NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His)26011TENM4Conflicting interpretations of pathogenicityrs199687168RCV000994692|RCV001333756; NMedGen:CN517202|MONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117841276378412763CT11:g.78412763C>T-
NM_001098816.3(TENM4):c.4681C>T (p.Arg1561Trp)26011TENM4Uncertain significancers375897439RCV001198717; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117841297778412977GA11:g.78412977G>A-
NM_001098816.3(TENM4):c.4324G>A (p.Ala1442Thr)26011TENM4Pathogenicrs375681722RCV000203527; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117841333478413334CT11:g.78413334C>TClinGen:CA251319,UniProtKB:Q6N022#VAR_076523,OMIM:610084.0002C4225223 616736 Tremor, hereditary essential, 5;
NM_001098816.3(TENM4):c.4273G>A (p.Asp1425Asn)26011TENM4Uncertain significance-1RCV001771779; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117841338578413385CT78413385-
NM_001098816.3(TENM4):c.4100C>A (p.Thr1367Asn)26011TENM4Pathogenicrs763485258RCV000203504; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117841951578419515GTNC_000011.9:g.78419515G>TClinGen:CA251317,UniProtKB:Q6N022#VAR_076522,OMIM:610084.0001C4225223 616736 Tremor, hereditary essential, 5;
NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)26011TENM4Pathogenicrs538881762RCV000203554; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117843726278437262CTNC_000011.9:g.78437262C>TClinGen:CA251321,UniProtKB:Q6N022#VAR_076521,OMIM:610084.0003C4225223 616736 Tremor, hereditary essential, 5;
NM_001098816.3(TENM4):c.1262C>T (p.Pro421Leu)26011TENM4Pathogenic-1RCV001848594; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117856721778567217GA78567217-
NM_001098816.3(TENM4):c.510G>A (p.Leu170=)26011TENM4Uncertain significance-1RCV001823452; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117861455278614552CT78614552-
NM_001098816.3(TENM4):c.346G>A (p.Asp116Asn)26011TENM4Uncertain significancers928920799RCV001333755; NMONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736117877593078775930CT78775930-
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