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Dystonia Musculorum Deformans (D004422)
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Voice Disorders (D014832)
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Whispering dysphonia, hereditary (C536698)

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 Sister Nodes: 
..expandAphonia (D001044)
..expandDysphonia (D055154) Child1
..expandHoarseness (D006685) Child2
..expandWhispering dysphonia, hereditary (C536698)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12835
Name:Whispering dysphonia, hereditary
Definition:
Alternative IDs:OMIM:128101
ParentIDs:MESH:D004422|MESH:D014832
TreeNumbers:C08.360.940/C536698 |C09.400.940/C536698 |C10.228.140.079.357/C536698 |C10.228.662.300.200/C536698 |C10.574.500.393/C536698 |C10.597.975/C536698 |C16.320.400.330/C536698 |C23.888.592.979/C536698
Synonyms:DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT |DYSTONIA MUSCULORUM DEFORMANS 4 |DYT4 |Hereditary whispering dysphonia |WHISPERING DYSPHONIA, HEREDITARY
Slim Mappings:Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms
Reference: MedGen: C536698
MeSH: C536698
OMIM: 128101;
MSeqDR LSDB:  
Genes: TUBB4A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002015Dysphagia
NAMDC:  Dysphagia
3 HP:0001618Dysphonia
4 HP:0002066Gait ataxia
5 HP:0007325Generalized dystonia
6 HP:0002451Limb dystonia
7 HP:0000275Narrow face
8 HP:0009938Sunken cheeks
9 HP:0001304Torsion dystonia
10 HP:0000473Torticollis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006087.4(TUBB4A):c.*804C>G10382TUBB4ABenignrs1053395RCV000266042|RCV000358613; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964943716494371GC19:g.6494371G>CClinGen:CA10643298C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*800G>A10382TUBB4AUncertain significancers781702991RCV001131103|RCV001131102; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964943756494375CT19:g.6494375C>T-
NM_006087.4(TUBB4A):c.*792C>T10382TUBB4AUncertain significancers1914007188RCV001134055|RCV001134054; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964943836494383GA19:g.6494383G>A-
NM_006087.4(TUBB4A):c.*725G>A10382TUBB4ABenignrs370034465RCV000305037|RCV000362026; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964944506494450CT19:g.6494450C>TClinGen:CA10652265C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*700T>A10382TUBB4ABenignrs73920690RCV000269699|RCV000327122; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964944756494475AT19:g.6494475A>TClinGen:CA10652267C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*673A>G10382TUBB4ABenignrs1053377RCV000273358|RCV000384213; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964945026494502TC19:g.6494502T>CClinGen:CA10649166C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*633C>A10382TUBB4ABenignrs74383079RCV001135555|RCV001135554; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964945426494542GT19:g.6494542G>T-
NM_006087.4(TUBB4A):c.*627A>C10382TUBB4AUncertain significancers1469859932RCV001135556|RCV001135557; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964945486494548TG19:g.6494548T>G-
NM_006087.4(TUBB4A):c.*579C>T10382TUBB4AUncertain significancers143637409RCV001135558|RCV001135559; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964945966494596GA19:g.6494596G>A-
NM_006087.4(TUBB4A):c.*493C>G10382TUBB4ABenignrs111966371RCV000330873|RCV000387713; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964946826494682GC19:g.6494682G>CClinGen:CA10643300C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*440C>T10382TUBB4AUncertain significancers886054651RCV000295816|RCV000334472; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964947356494735GA19:g.6494735G>AClinGen:CA10649170C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*429C>T10382TUBB4ABenignrs567346964RCV000294201|RCV000372809; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964947466494746GA19:g.6494746G>AClinGen:CA10649171C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*400G>A10382TUBB4ABenignrs8113500RCV000349098|RCV000400034|RCV001613070; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN5172021964947756494775CT19:g.6494775C>TClinGen:CA10652270C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*304C>T10382TUBB4AUncertain significancers1914042322RCV001130492|RCV001130493; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964948716494871GA19:g.6494871G>A-
NM_006087.4(TUBB4A):c.*260G>C10382TUBB4ABenignrs3099129RCV000309290|RCV000345532|RCV001683326; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MedGen:CN5172021964949156494915CG19:g.6494915C>GClinGen:CA10652271C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*111G>C10382TUBB4ABenignrs446199RCV000305659|RCV000400324|RCV001613071; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MedGen:CN5172021964950646495064CG19:g.6495064C>GClinGen:CA10652272C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*100G>A10382TUBB4ABenignrs528792394RCV000360512|RCV000391165; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964950756495075CT19:g.6495075C>TClinGen:CA10652807C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*96C>G10382TUBB4ABenignrs449824RCV000301983|RCV000356852|RCV001718693; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MedGen:CN5172021964950796495079GC19:g.6495079G>CClinGen:CA10649172C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*86G>A10382TUBB4AUncertain significancers867164852RCV001134179|RCV001134178; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964950896495089CT19:g.6495089C>T-
NM_006087.4(TUBB4A):c.*69C>G10382TUBB4ABenignrs564748070RCV001134181|RCV001134180; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964951066495106GC19:g.6495106G>C-
NM_006087.4(TUBB4A):c.*53G>A10382TUBB4ALikely benignrs113953942RCV000261904|RCV000317082; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964951226495122CT19:g.6495122C>TClinGen:CA10643301C0393593 Dystonia;
NM_006087.4(TUBB4A):c.*36C>G10382TUBB4ABenignrs759397360RCV001135679|RCV001135680; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964951396495139GC19:g.6495139G>C-
NM_006087.4(TUBB4A):c.*3T>C10382TUBB4ABenignrs150446118RCV000417707|RCV001135682|RCV001135681; NMedGen:CN169374|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964951726495172AG19:g.6495172A>GClinGen:CA9127228CN169374 not specified;
NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=)10382TUBB4ABenign/Likely benignrs142792302RCV000861893|RCV001135683|RCV001311150; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN5172021964952116495211GA19:g.6495211G>A-
NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=)10382TUBB4ABenignrs61731566RCV000277425|RCV000353442|RCV000436242; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MedGen:CN1693741964952236495223CTNC_000019.9:g.6495223C>TClinGen:CA9127244C0393593 Dystonia;
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)10382TUBB4APathogenic/Likely pathogenicrs587777428RCV000122736|RCV000763442|RCV001542616|RCV001563545|RCV001795219; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441; MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964952826495282CTNC_000019.9:g.6495282C>TClinGen:CA163113,OMIM:602662.0004C2676244 612438 Leukodystrophy, hypomyelinating, 6;
NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser)10382TUBB4ALikely pathogenicrs886041022RCV000850614; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805; MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964953296495329AG19:g.6495329A>G-
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)10382TUBB4AConflicting interpretations of pathogenicityrs886041021RCV000258636|RCV001249222|RCV001092106; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441; MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN5172021964953386495338CT19:g.6495338C>TClinGen:CA10602617C2676244 612438 Leukodystrophy, hypomyelinating, 6;
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)10382TUBB4ALikely pathogenicrs886041020RCV000258709|RCV001764245; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964953476495347AGNC_000019.9:g.6495347A>GClinGen:CA10602619C2676244 612438 Leukodystrophy, hypomyelinating, 6;
NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=)10382TUBB4ABenign/Likely benignrs148507956RCV000332362|RCV000386937|RCV000864997; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN5172021964954156495415CTNC_000019.9:g.6495415C>TClinGen:CA9127270C0393593 Dystonia;
NM_006087.4(TUBB4A):c.921C>T (p.His307=)10382TUBB4ABenignrs118102196RCV000231688|RCV000328435|RCV000437149; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN1693741964955896495589GA19:g.6495589G>AClinGen:CA9127304C0393593 Dystonia;
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)10382TUBB4AConflicting interpretations of pathogenicityrs149903666RCV000193302|RCV000383118|RCV000288736|RCV001709516; NMedGen:CN169374|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN5172021964955956495595CTNC_000019.9:g.6495595C>TClinGen:CA206688C0393593 Dystonia;
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=)10382TUBB4ABenign/Likely benignrs144969662RCV000343742|RCV000402401|RCV000429180|RCV001532369; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN169374|MedGen:CN5172021964956046495604CTNC_000019.9:g.6495604C>TClinGen:CA9127310C0393593 Dystonia;
NM_006087.4(TUBB4A):c.854C>A (p.Thr285Lys)10382TUBB4ALikely pathogenicrs552079378RCV001335377; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964956566495656GT6495656-
NM_006087.4(TUBB4A):c.811G>A (p.Ala271Thr)10382TUBB4APathogenicrs587777074RCV000077783; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964956996495699CT19:g.6495699C>TClinGen:CA145500,OMIM:602662.0003C1851943 128101 Autosomal dominant torsion dystonia 4;
NM_006087.4(TUBB4A):c.774T>C (p.Val258=)10382TUBB4ABenignrs2071347RCV000285444|RCV000340366|RCV001636927|RCV001723918; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN517202|MedGen:CN1693741964957366495736AGNC_000019.9:g.6495736A>GClinGen:CA9127326C0393593 Dystonia;
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)10382TUBB4APathogenic/Likely pathogenicrs483352809RCV000043681|RCV000255689|RCV001249621|RCV001814029; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MedGen:CN517202|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441; MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|Human Phenotype Ontology:HP:0000707,Human Phen1964957656495765CT19:g.6495765C>TClinGen:CA143913,UniProtKB:P04350#VAR_069799,OMIM:602662.0002C2676244 612438 Leukodystrophy, hypomyelinating, 6;
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)10382TUBB4AConflicting interpretations of pathogenicityrs146906606RCV001131323|RCV001131324; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964958446495844GA19:g.6495844G>A-
NM_006087.4(TUBB4A):c.630C>T (p.Ile210=)10382TUBB4AUncertain significancers1268743523RCV001134314|RCV001134315; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964958806495880GA19:g.6495880G>A-
NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=)10382TUBB4ABenignrs199666595RCV000300026|RCV000401832; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411964958866495886GANC_000019.9:g.6495886G>AClinGen:CA9127343C0393593 Dystonia;
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)10382TUBB4APathogenicrs587777468RCV000258699|RCV000782019|RCV001335376; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MedGen:CN517202|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964959776495977GANC_000019.9:g.6495977G>AClinGen:CA10602636
NM_006087.4(TUBB4A):c.435C>T (p.Ser145=)10382TUBB4ABenignrs200757174RCV001134316|RCV001134317; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051964960756496075GA19:g.6496075G>A-
NM_006087.4(TUBB4A):c.342C>T (p.Asp114=)10382TUBB4ABenignrs61741669RCV000354776|RCV000393466|RCV000436450; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN1693741964961686496168GANC_000019.9:g.6496168G>AClinGen:CA9127387C0393593 Dystonia;
NM_006087.4(TUBB4A):c.238C>T (p.Pro80Ser)10382TUBB4ABenignrs1599414391RCV000853496; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051965013376501337GA19:g.6501337G>A-
NM_006087.4(TUBB4A):c.210C>T (p.Pro70=)10382TUBB4ABenignrs557747150RCV000315058|RCV000369687; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051965013656501365GANC_000019.9:g.6501365G>AClinGen:CA9127434C0393593 Dystonia;
NM_006087.4(TUBB4A):c.189G>A (p.Ala63=)10382TUBB4ABenign/Likely benignrs150812047RCV000275181|RCV000330295|RCV001712117; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MedGen:CN5172021965013866501386CTNC_000019.9:g.6501386C>TClinGen:CA9127438C0393593 Dystonia;
NM_006087.4(TUBB4A):c.167-12G>C10382TUBB4AUncertain significancers1914527740RCV001135792|RCV001135791; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051965014206501420CG19:g.6501420C>G-
NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly)10382TUBB4APathogenicrs587776983RCV000043680|RCV000258667; NMONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:98805|MONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:1394411965022206502220GC19:g.6502220G>CClinGen:CA143910,UniProtKB:P04350#VAR_069798,OMIM:602662.0001C1851943 128101 Autosomal dominant torsion dystonia 4;
NM_006087.4(TUBB4A):c.-62C>T10382TUBB4ABenignrs774284850RCV000271951|RCV000366621; NMONDO:MONDO:0012905,MedGen:C2676244,OMIM:612438, Orphanet:139441|MONDO:MONDO:0007493,MedGen:C1851943,OMIM:128101, Orphanet:988051965022856502285GANC_000019.9:g.6502285G>AClinGen:CA9127502C0393593 Dystonia;
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