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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dyskinesias (D020820)
Parent Node: Myokymia (D020385)
..Starting node ..Dyskinesia, Familial, with Facial Myokymia (C564676)
Child Nodes:
Sister Nodes:
..Continuous Muscle Fiber Activity, Hereditary (C563545)
..Dyskinesia, Familial, with Facial Myokymia (C564676)
..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..Episodic Ataxia, Type 1 (C563278)
..Myokymia with neonatal epilepsy (C536099)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3529

Name:

Dyskinesia, Familial, with Facial Myokymia

Definition:

Alternative IDs:

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:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C564676
MeSH: C564676
OMIM: 606703;

Genes: ADCY5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003621	Juvenile onset
3	HP:0000739	Anxiety
4	HP:0002072	Chorea
5	HP:0001635	Congestive heart failure	HP:0040283
6	HP:0001644	Dilated cardiomyopathy	HP:0040283
7	HP:0001260	Dysarthria
8	HP:0100660	Dyskinesia
9	HP:0001332	Dystonia
10	HP:0000317	Facial myokymia
11	HP:0001347	Hyperreflexia	HP:0040283
12	HP:0002509	Limb hypertonia
13	HP:0001270	Motor delay	HP:0040283
14	HP:0008936	Muscular hypotonia of the trunk	HP:0040283
15	HP:0002322	Resting tremor	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_183357.2(ADCY5):c.3086T>A (p.Met1029Lys)	111	ADCY5	Pathogenic	864309484	RCV000202493;	N	MedGen:C1847627,OMIM:606703,ORPHA:324588	3	123010201	123010201	NM_183357.2:c.3086T>A	NP_899200.1:p.Met1029Lys	NC_000003.11:g.123010201A>T	-	C1847627 606703 Dyskinesia, familial, with facial myokymia
NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr)	111	ADCY5	Pathogenic	796065306	RCV000030679;	N	MedGen:C1847627,OMIM:606703,ORPHA:324588	3	123038601	123038601	NM_183357.2:c.2176G>A	NP_899200.1:p.Ala726Thr	NC_000003.11:g.123038601C>T	OMIM Allelic Variant:600293.0001	C1847627 606703 Dyskinesia, familial, with facial myokymia
NM_183357.2(ADCY5):c.2088+1G>T	111	ADCY5	Pathogenic	797045002	RCV000190498;	N	MedGen:C1847627,OMIM:606703,ORPHA:324588	3	123044168	123044168	NM_183357.2:c.2088+1G>T		NC_000003.11:g.123044168C>A,NC_000003.11:g.123044168C>T	-	C1847627 606703 Dyskinesia, familial, with facial myokymia
NM_183357.2(ADCY5):c.2088+1G>A	111	ADCY5	Pathogenic	797045002	RCV000202586;	N	MedGen:C1847627,OMIM:606703,ORPHA:324588	3	123044168	123044168	NM_183357.2:c.2088+1G>A		NC_000003.11:g.123044168C>A,NC_000003.11:g.123044168C>T	-	C1847627 606703 Dyskinesia, familial, with facial myokymia
NM_183357.2(ADCY5):c.1253G>A (p.Arg418Gln)	111	ADCY5	Pathogenic	864309515	RCV000202572;	N	MedGen:C1847627,OMIM:606703,ORPHA:324588	3	123071310	123071310	NM_183357.2:c.1253G>A	NP_899200.1:p.Arg418Gln	NC_000003.11:g.123071310C>T	-	C1847627 606703 Dyskinesia, familial, with facial myokymia
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp)	111	ADCY5	Pathogenic	864309483	RCV000202545;	N	MedGen:C1847627,OMIM:606703,ORPHA:324588	3	123071311	123071311	NM_183357.2:c.1252C>T	NP_899200.1:p.Arg418Trp	NC_000003.11:g.123071311G>A	-	C1847627 606703 Dyskinesia, familial, with facial myokymia