MSeqDR Mitochondrial Disease Portal


 
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Dyskinesias (D020820)
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Myokymia (D020385)
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Dyskinesia, Familial, with Facial Myokymia (C564676)

       Child Nodes:



 Sister Nodes: 
..expandContinuous Muscle Fiber Activity, Hereditary (C563545)
..expandDyskinesia, Familial, with Facial Myokymia (C564676)
..expandEpilepsy, Benign Neonatal, 1, And-Or Myokymia (C567743)
..expandEpisodic Ataxia, Type 1 (C563278)
..expandMyokymia with neonatal epilepsy (C536099)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3893
Name:Dyskinesia, Familial, with Facial Myokymia
Definition:
Alternative IDs:OMIM:606703
ParentIDs:MESH:D020385|MESH:D020820
TreeNumbers:C10.228.662.262/C564676 |C10.597.350/C564676 |C10.597.613.650/C564676 |C23.888.592.350/C564676 |C23.888.592.608.650/C564676
Synonyms:FDFM
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: C564676
MeSH: C564676
OMIM: 606703;
MSeqDR LSDB:  
Genes: ADCY5; SCARB2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003621Juvenile onset
3 HP:0000739Anxiety
NAMDC:  Anxiety
4 HP:0002072Chorea
NAMDC:  Chorea
5 HP:0001635Congestive heart failureHP:0040283
6 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
HP:0040283
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0100660Dyskinesia
9 HP:0001332Dystonia
NAMDC:  Dystonia
10 HP:0000317Facial myokymia
11 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
HP:0040283
12 HP:0002509Limb hypertonia
13 HP:0001270Motor delayHP:0040283
14 HP:0008936Muscular hypotonia of the trunkHP:0040283
15 HP:0002322Resting tremorHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met)111ADCY5Uncertain significancers1938794666RCV001198036; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123005576123005576CT3:g.123005576C>T-
NM_183357.3(ADCY5):c.3532+78A>C111ADCY5Benign-1RCV001549076|RCV001655880; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123008519123008519TG123008519-
NM_183357.3(ADCY5):c.3086T>A (p.Met1029Lys)111ADCY5Pathogenicrs864309484RCV000202493; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123010201123010201AT3:g.123010201A>TClinGen:CA347742,OMIM:600293.0006C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.3074A>C (p.Glu1025Ala)111ADCY5Likely pathogenicrs1576526285RCV000987316; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123010213123010213TG3:g.123010213T>G-
NM_183357.3(ADCY5):c.3063+54G>A111ADCY5Benign-1RCV001549077|RCV001720315; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123014877123014877CT123014877-
NM_183357.3(ADCY5):c.3045C>A (p.Asp1015Glu)111ADCY5Pathogenic-1RCV001789712; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123014949123014949GT123014949OMIM:600293.0004
NM_183357.3(ADCY5):c.2931-31C>G111ADCY5Benign-1RCV001549078|RCV001647418; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123015094123015094GC123015094-
NM_183357.3(ADCY5):c.2900+4T>C111ADCY5Benign-1RCV001520461|RCV001529813|RCV001549079; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123018963123018963AG123018963-
NM_183357.3(ADCY5):c.2724+64T>C111ADCY5Benign-1RCV001549080|RCV001619975; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123021838123021838AG123021838-
NM_183357.3(ADCY5):c.2724+32C>G111ADCY5Benign-1RCV001549244|RCV001619977; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123021870123021870GC123021870-
NM_183357.3(ADCY5):c.2443-14T>A111ADCY5Uncertain significancers1362359930RCV001331927; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123023044123023044AT123023044-
NM_183357.3(ADCY5):c.2257-83T>G111ADCY5Benign-1RCV001549245|RCV001694097; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123037047123037047AC123037047-
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)111ADCY5Pathogenicrs796065306RCV000030679|RCV000484892; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123038601123038601CT3:g.123038601C>TClinGen:CA342901,UniProtKB:O95622#VAR_068821,OMIM:600293.0001C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.2088+1G>T111ADCY5Pathogenicrs797045002RCV000190498; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123044168123044168CANC_000003.11:g.123044168C>AClinGen:CA275966C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.2088+1G>A111ADCY5Pathogenicrs797045002RCV000202586; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123044168123044168CTNC_000003.11:g.123044168C>TClinGen:CA347808,OMIM:600293.0003C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.2080_2088del (p.Lys694_Met696del)111ADCY5Pathogenic-1RCV001548757; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123044169123044177CCATCCGCTTC123044168-
NM_183357.3(ADCY5):c.2071A>G (p.Lys691Glu)111ADCY5Likely pathogenicrs1553726054RCV000995686; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123044186123044186TC3:g.123044186T>C-
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)111ADCY5Conflicting interpretations of pathogenicityrs61734561RCV000417426|RCV000987317; NMedGen:CN517202|MONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123046510123046510CG3:g.123046510C>GClinGen:CA2577336CN169374 not specified;
NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile)111ADCY5Uncertain significancers1941613094RCV001169881; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123047546123047546CT3:g.123047546C>T-
NM_183357.3(ADCY5):c.1647-17T>C111ADCY5Benignrs9855969RCV000987318|RCV001509894|RCV001529759; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN517202|MedGen:CN1693743123047666123047666AG3:g.123047666A>G-
NM_183357.3(ADCY5):c.1579C>A (p.Pro527Thr)111ADCY5Likely pathogenicrs910314734RCV000987319; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123049803123049803GT3:g.123049803G>T-
NM_183357.3(ADCY5):c.1519-75T>G111ADCY5Benign-1RCV001549246|RCV001685508; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123049938123049938AC123049938-
NM_183357.3(ADCY5):c.1406+70_1406+73dup111ADCY5Benign-1RCV001549247|RCV001638160; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123066555123066556AAAAGG123066555-
NM_183357.3(ADCY5):c.1378A>T (p.Ile460Phe)111ADCY5Likely pathogenicrs1576606182RCV000995687; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123066657123066657TA3:g.123066657T>A-
NM_183357.3(ADCY5):c.1322C>T (p.Ala441Val)111ADCY5Likely pathogenicrs1576606282RCV000995688; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123066713123066713GA3:g.123066713G>A-
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)111ADCY5Pathogenicrs864309515RCV000202572|RCV000494073; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123071310123071310CTNC_000003.11:g.123071310C>TClinGen:CA347806C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)111ADCY5Conflicting interpretations of pathogenicityrs864309483RCV000202545|RCV000255111|RCV000622463; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN517202|MeSH:D030342,MedGen:C09501233123071311123071311GA3:g.123071311G>AClinGen:CA347787,UniProtKB:O95622#VAR_073778,OMIM:600293.0002C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.697T>C (p.Tyr233His)111ADCY5Pathogenic-1RCV001789713; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123166696123166696AG123166696OMIM:600293.0005
NM_183357.3(ADCY5):c.649C>T (p.Arg217Cys)111ADCY5Uncertain significance-1RCV001809303; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123166744123166744GA123166744-
NM_183357.3(ADCY5):c.632C>T (p.Ala211Val)111ADCY5Uncertain significance-1RCV001823450; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123166761123166761GA123166761-
NM_183357.3(ADCY5):c.503G>A (p.Arg168His)111ADCY5Uncertain significancers1576704455RCV001331989; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123166890123166890CT123166890-
NM_183357.3(ADCY5):c.459_460del (p.Arg154fs)111ADCY5Likely pathogenicrs1576704514RCV000987320; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123166933123166934CGAC3:g.123166933_123166934del-
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)111ADCY5Uncertain significancers988224463RCV001333702|RCV001556364; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:324588|MedGen:CN5172023123166993123166993CT123166993-
NM_183357.3(ADCY5):c.395C>G (p.Pro132Arg)111ADCY5Uncertain significancers1455648014RCV001333701; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123166998123166998GC123166998-
NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr)111ADCY5Conflicting interpretations of pathogenicityrs548282891RCV000428751|RCV000765702; NMedGen:CN517202|MONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123167089123167089CT3:g.123167089C>TClinGen:CA2577700CN169374 not specified;
NM_183357.3(ADCY5):c.225CGA[4] (p.Asp80del)111ADCY5Uncertain significancers754577305RCV001175306; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123167154123167156ATCGA3:g.123167154_123167156del-
NM_183357.3(ADCY5):c.144C>T (p.Gly48=)111ADCY5Benign-1RCV001509895|RCV001528242|RCV001549248; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123167249123167249GA123167249-
NM_183357.3(ADCY5):c.100G>C (p.Glu34Gln)111ADCY5Uncertain significancers1559883468RCV000714656; NMONDO:MONDO:0011707,MedGen:C1847627,OMIM:606703, Orphanet:3245883123167293123167293CGNC_000003.11:g.123167293C>G-
MSeqDR Portal