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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)
..Starting node ..MIRROR MOVEMENTS 1 (OMIM:157600)
Child Nodes:
Sister Nodes:
..Ataxia (D001259) 126
..Athetosis (D001264) 3
..Bobble-head doll syndrome (C536241)
..Catalepsy (D002375)
..Chorea (D002819) 17
..Choreoathetosis/Spasticity, Episodic (C563401)
..Dyskinesia, Drug-Induced (D004409)
..Dyskinesia, Familial, with Facial Myokymia (C564676)
..Dystonia (D004421) 18
..Episodic Kinesigenic Dyskinesia 2 (C567026)
..Hyperkinesis (D006948)
..Hypokinesia (D018476) 1
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..MIRROR MOVEMENTS 1 (OMIM:157600)
..Myoclonus (D009207) 10
..Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia (C567412)
..Psychomotor Agitation (D011595) 1
..Synkinesis (D046608) 2
..Tics (D020323)
..Tremor (D014202) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7303

Name:

MIRROR MOVEMENTS 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D020820

TreeNumbers:

C10.228.662.262/157600 |C10.597.350/157600 |C23.888.592.350/157600

Synonyms:

BIMANUAL SYNERGIA |MIRROR MOVEMENTS, CONGENITAL |MRMV1

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: 157600
MeSH: 157600
OMIM: 157600;

Genes: DCC;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001335	Bimanual synkinesia
3	HP:0003829	Incomplete penetrance

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_005215.3(DCC):c.377C>A (p.Ser126Ter)	1630	DCC	Pathogenic	797044551	RCV000192077;	N	MedGen:C1834870,OMIM:157600	18	50278709	50278709	NM_005215.3:c.377C>A	NP_005206.2:p.Ser126Ter	NC_000018.9:g.50278709C>A	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.527A>G (p.Asn176Ser)	1630	DCC	Uncertain significance	138724679	RCV000192072;	N	MedGen:C1834870,OMIM:157600	18	50432528	50432528	NM_005215.3:c.527A>G	NP_005206.2:p.Asn176Ser	NC_000018.9:g.50432528A>G	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.571dupG (p.Val191Glyfs)	1630	DCC	Pathogenic	797044552	RCV000192078;	N	MedGen:C1834870,OMIM:157600	18	50432572	50432572	NM_005215.3:c.571dupG	NP_005206.2:p.Val191Glyfs	NC_000018.9:g.50432572dupG	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.823C>T (p.Arg275Ter)	1630	DCC	Pathogenic	754914260	RCV000192079;	N	MedGen:C1834870,OMIM:157600	18	50450202	50450202	NM_005215.3:c.823C>T	NP_005206.2:p.Arg275Ter	NC_000018.9:g.50450202C>T	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.1140+1G>A (p.V329GfsTer15)	1630	DCC	Pathogenic	797044553	RCV000192080;	N	MedGen:C1834870,OMIM:157600	18	50589830	50589830	NM_005215.3:c.1140+1G>A	NP_005206.2:p.V329GfsTer15	NC_000018.9:g.50589830G>A	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.1336_1337insAGCC (p.Arg446Glnfs)	1630	DCC	Pathogenic	797044554	RCV000192081;	N	MedGen:C1834870,OMIM:157600	18	50683800	50683801	NM_005215.3:c.1336_1337insAGCC	NP_005206.2:p.Arg446Glnfs	NC_000018.9:g.50683800_50683801insAGCC	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.1409G>A (p.Gly470Asp)	1630	DCC	Uncertain significance	141813053	RCV000192073;	N	MedGen:C1834870,OMIM:157600	18	50683873	50683873	NM_005215.3:c.1409G>A	NP_005206.2:p.Gly470Asp	NC_000018.9:g.50683873G>A	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.2000G>A (p.Arg667His)	1630	DCC	Uncertain significance	200099519	RCV000192074;	N	MedGen:C1834870,OMIM:157600	18	50832036	50832036	NM_005215.3:c.2000G>A	NP_005206.2:p.Arg667His	NC_000018.9:g.50832036G>A	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.2105A>G (p.Asn702Ser)	1630	DCC	Uncertain significance	35691189	RCV000192075;	N	MedGen:C1834870,OMIM:157600	18	50848468	50848468	NM_005215.3:c.2105A>G	NP_005206.2:p.Asn702Ser	NC_000018.9:g.50848468A>G	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.2407G>A (p.Gly803Arg)	1630	DCC	Uncertain significance	797044550	RCV000192076;	N	MedGen:C1834870,OMIM:157600	18	50912460	50912460	NM_005215.3:c.2407G>A	NP_005206.2:p.Gly803Arg	NC_000018.9:g.50912460G>A	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.2871_2875dupAGGGA (p.Pro960Glyfs)	1630	DCC	Pathogenic	797044555	RCV000192082;	N	MedGen:C1834870,OMIM:157600	18	50929199	50929203	NM_005215.3:c.2871_2875dupAGGGA	NP_005206.2:p.Pro960Glyfs	NC_000018.9:g.50929199_50929203dupAGGGA	-	C1834870 157600 Mirror movements, congenital
NM_005215.3(DCC):c.3835_3836delCT (p.Leu1279Profs)	1630	DCC	Pathogenic	797044556	RCV000192083;	N	MedGen:C1834870,OMIM:157600	18	51013265	51013266	NM_005215.3:c.3835_3836delCT	NP_005206.2:p.Leu1279Profs	NC_000018.9:g.51013265_51013266delCT	-	C1834870 157600 Mirror movements, congenital