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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 ..Chorea (D002819)
Child Nodes:
........Chorea Gravidarum (D020150)
........Chorea, Benign Familial (C565851)
........Chorea, remitting with nystagmus and cataracts (C535355)
........Choreoathetosis, Familial Inverted (C566127)
........Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress (C567034)
........Costeff optic atrophy syndrome (C535311)
........Episodic Kinesigenic Dyskinesia 1 (C566847)
........Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
........Huntington Disease (D006816) 3
........Huntington Disease-Like 2 (C564708)
........Neuroacanthocytosis (D054546) 1
........Paroxysmal nonkinesigenic dyskinesia (C537181)
........Paroxysmal Nonkinesigenic Dyskinesia 2 (C567001)
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:

2148

Name:

Chorea

Definition:

Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES.

Alternative IDs:

OMIM:118700

ParentIDs:

MESH:D020820

TreeNumbers:

C10.228.662.262.249 |C10.597.350.250 |C23.888.592.350.250

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: D002819
MeSH: D002819
OMIM: 118700;

Genes: NKX2-1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003621	Juvenile onset
3	HP:0000739	Anxiety
4	HP:0002072	Chorea
5	HP:0001260	Dysarthria	HP:0040283
6	HP:0001288	Gait disturbance
7	HP:0001270	Motor delay
8	HP:0003812	Phenotypic variability

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
NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del	-1	-	Pathogenic	-1	RCV000009535;	N	MedGen:C0393584,OMIM:118700,ORPHA:1429,SNOMED CT:230306001	14	36407609	37670256	-	-		OMIM Allelic Variant:600635.0001,dbVar:nssv7487171,dbVar:nsv1197568	C0393584 118700 Benign hereditary chorea
NM_001079668.2(NKX2-1):c.908delG (p.Gly303Valfs)	7080	NKX2-1	Pathogenic	387906404	RCV000009538;	N	MedGen:C0393584,OMIM:118700,ORPHA:1429,SNOMED CT:230306001	14	36986781	36986781	NM_001079668.2:c.908delG	NP_001073136.1:p.Gly303Valfs	NC_000014.8:g.36986781delC	OMIM Allelic Variant:600635.0004	C0393584 118700 Benign hereditary chorea
NM_001079668.2(NKX2-1):c.745C>T (p.Gln249Ter)	7080	NKX2-1	Pathogenic	137852694	RCV000009543;	N	MedGen:C0393584,OMIM:118700,ORPHA:1429,SNOMED CT:230306001	14	36986944	36986944	NM_001079668.2:c.745C>T	NP_001073136.1:p.Gln249Ter	NC_000014.8:g.36986944G>A	OMIM Allelic Variant:600635.0009	C0393584 118700 Benign hereditary chorea
NM_001079668.2(NKX2-1):c.727C>A (p.Arg243Ser)	7080	NKX2-1	Pathogenic	28936671	RCV000009536;	N	MedGen:C0393584,OMIM:118700,ORPHA:1429,SNOMED CT:230306001	14	36986962	36986962	NM_001079668.2:c.727C>A	NP_001073136.1:p.Arg243Ser	NC_000014.8:g.36986962G>T	OMIM Allelic Variant:600635.0002	C0393584 118700 Benign hereditary chorea
NM_001079668.2(NKX2-1):c.713G>T (p.Trp238Leu)	7080	NKX2-1	Pathogenic	28936672	RCV000009537;	N	MedGen:C0393584,OMIM:118700,ORPHA:1429,SNOMED CT:230306001	14	36986976	36986976	NM_001079668.2:c.713G>T	NP_001073136.1:p.Trp238Leu	NC_000014.8:g.36986976C>A	OMIM Allelic Variant:600635.0003	C0393584 118700 Benign hereditary chorea
NM_001079668.2(NKX2-1):c.464-2A>T	7080	NKX2-1	Pathogenic	587776708	RCV000009541;	N	MedGen:C0393584,OMIM:118700,ORPHA:1429,SNOMED CT:230306001	14	36987227	36987227	NM_001079668.2:c.464-2A>T		14:g.36987227T>A	OMIM Allelic Variant:600635.0007	C0393584 118700 Benign hereditary chorea