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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

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

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Movement Disorders (D009069)
..Starting node ..Parkinsonian Disorders (D020734)
Child Nodes:
........Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques (C565115)
........Dystonia-Parkinsonism, Adult-Onset (C567844)
........Lewy Body Disease (D020961) 3
........Parkinson Disease (D010300) 24
........Parkinson Disease 5 (C566017)
........Parkinson Disease 8 (C564631)
........Parkinson disease 9 (C537177)
........Parkinson Disease, Secondary (D010302) 4
........Perry Syndrome (C566822)
Sister Nodes:
..Akathisia, Drug-Induced (D017109)
..Angelman Syndrome (D017204) 1
..Beta-Ureidopropionase Deficiency (C563210)
..Dyskinesias (D020820) 199
..Dystonic Disorders (D020821) 31
..Essential Tremor (D020329) 3
..Guanidinoacetate methyltransferase deficiency (C537622)
..Hepatolenticular Degeneration (D006527) 2
..Multiple System Atrophy (D019578) 21
..Non-lissencephalic cortical dysplasia (C536243)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Parkinsonian Disorders (D020734) 39
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Pronation-Supination Of The Forearm, Impairment Of (C566757)
..Supranuclear Palsy, Progressive (D013494) 5
..Telfer Sugar Jaeger syndrome (C536955)
..Tic Disorders (D013981) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8674

Name:

Parkinsonian Disorders

Definition:

A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.

Alternative IDs:

OMIM:600116

ParentIDs:

MESH:D001480|MESH:D009069

TreeNumbers:

C10.228.140.079.862 |C10.228.662.600

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: D020734
MeSH: D020734
OMIM: 600116;

Genes: PARK2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0002067	Bradykinesia
4	HP:0001332	Dystonia
5	HP:0001288	Gait disturbance
6	HP:0001347	Hyperreflexia
7	HP:0001300	Parkinsonism
8	HP:0002172	Postural instability
9	HP:0002063	Rigidity
10	HP:0011960	Substantia nigra gliosis
11	HP:0001337	Tremor

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_004562.2(PARK2):c.7+1G>T	-1	-	Pathogenic	397518439	RCV000007469;	N	MedGen:C1868675,OMIM:600116	6	163148693	163148693	NM_004562.2:c.7+1G>T		NC_000006.11:g.163148693C>A	OMIM Allelic Variant:602544.0020	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter)	5071	PARK2	Pathogenic	137853056	RCV000007458;	N	MedGen:C1868675,OMIM:600116	6	161771171	161771171	NM_004562.2:c.1358G>A	NP_004553.2:p.Trp453Ter	NC_000006.11:g.161771171C>T	OMIM Allelic Variant:602544.0007	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe)	5071	PARK2	Pathogenic	397514694	RCV000043509;	N	MedGen:C1868675,OMIM:600116	6	161771237	161771237	NM_004562.2:c.1292G>T	NP_004553.2:p.Cys431Phe	NC_000006.11:g.161771237C>A	OMIM Allelic Variant:602544.0023	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn)	5071	PARK2	Benign	1801334	RCV000034121;	N	MedGen:C1868675,OMIM:600116	6	161781225	161781225	NM_004562.2:c.1180G>A	NP_004553.2:p.Asp394Asn	NC_000006.11:g.161781225C>T	-	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.1138G>C (p.Val380Leu)	5071	PARK2	Benign	1801582	RCV000034120; RCV000173805;	N	MedGen:C1868675,OMIM:600116; MedGen:CN169374	6	161807855	161807855	NM_004562.2:c.1138G>C	NP_004553.2:p.Val380Leu	NC_000006.11:g.161807855C>G	-	CN169374 not specified; C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp)	5071	PARK2	Benign	56092260	RCV000034119;	N	MedGen:C1868675,OMIM:600116	6	161807897	161807897	NM_004562.2:c.1096C>T	NP_004553.2:p.Arg366Trp	NC_000006.11:g.161807897G>A	-	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.872-?_1083+?del	5071	PARK2	Pathogenic	-1	RCV000007457;	N	MedGen:C1868675,OMIM:600116	6	161969886	161990448	NM_004562.2:c.872-?_1083+?del			OMIM Allelic Variant:602544.0006	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.931C>T (p.Gln311Ter)	5071	PARK2	Pathogenic	137853055	RCV000007453;	N	MedGen:C1868675,OMIM:600116	6	161990389	161990389	NM_004562.2:c.931C>T	NP_004553.2:p.Gln311Ter	NC_000006.11:g.161990389G>A	OMIM Allelic Variant:602544.0004	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.172-?_871+?del	5071	PARK2	Pathogenic	-1	RCV000007450;	N	MedGen:C1868675,OMIM:600116	6	162206804	162683797	NM_004562.2:c.172-?_871+?del			OMIM Allelic Variant:602544.0001	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.735-?_871+?del	5071	PARK2	Pathogenic	-1	RCV000007461;	N	MedGen:C1868675,OMIM:600116	6	162206804	162206940	NM_004562.2:c.735-?_871+?del			OMIM Allelic Variant:602544.0010	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.823C>T (p.Arg275Trp)	5071	PARK2	Pathogenic	34424986	RCV000007466;	N	MedGen:C1868675,OMIM:600116	6	162206852	162206852	NM_004562.2:c.823C>T	NP_004553.2:p.Arg275Trp	NC_000006.11:g.162206852G>A	OMIM Allelic Variant:602544.0017	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.719C>G (p.Thr240Arg)	5071	PARK2	Pathogenic	137853054	RCV000007452;	N	MedGen:C1868675,OMIM:600116	6	162394349	162394349	NM_004562.2:c.719C>G	NP_004553.2:p.Thr240Arg	NC_000006.11:g.162394349G>A,NC_000006.11:g.162394349G>C	OMIM Allelic Variant:602544.0003	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.719C>T (p.Thr240Met)	5071	PARK2	Pathogenic	137853054	RCV000007470;	N	MedGen:C1868675,OMIM:600116	6	162394349	162394349	NM_004562.2:c.719C>T	NP_004553.2:p.Thr240Met	NC_000006.11:g.162394349G>A,NC_000006.11:g.162394349G>C	OMIM Allelic Variant:602544.0021	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr)	5071	PARK2	Pathogenic	137853058	RCV000007462;	N	MedGen:C1868675,OMIM:600116	6	162394433	162394433	NM_004562.2:c.635G>A	NP_004553.2:p.Cys212Tyr	NC_000006.11:g.162394433C>T	OMIM Allelic Variant:602544.0012	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.633A>T (p.Lys211Asn)	5071	PARK2	Pathogenic	137853060	RCV000007467;	N	MedGen:C1868675,OMIM:600116	6	162394435	162394435	NM_004562.2:c.633A>T	NP_004553.2:p.Lys211Asn	NC_000006.11:g.162394435T>A	OMIM Allelic Variant:602544.0018	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.413-?_534+?del	5071	PARK2	Pathogenic	-1	RCV000007451;	N	MedGen:C1868675,OMIM:600116	6	162622163	162622284	NM_004562.2:c.413-?_534+?del			OMIM Allelic Variant:602544.0002	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.500G>A (p.Ser167Asn)	5071	PARK2	Benign	1801474	RCV000034122;	N	MedGen:C1868675,OMIM:600116	6	162622197	162622197	NM_004562.2:c.500G>A	NP_004553.2:p.Ser167Asn	NC_000006.11:g.162622197C>T	-	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.483A>T (p.Lys161Asn)	5071	PARK2	Pathogenic	137853057	RCV000007459;	N	MedGen:C1868675,OMIM:600116	6	162622214	162622214	NM_004562.2:c.483A>T	NP_004553.2:p.Lys161Asn	NC_000006.11:g.162622214T>A	OMIM Allelic Variant:602544.0008	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.245C>A (p.Ala82Glu)	5071	PARK2	Pathogenic	55774500	RCV000007454;	N	MedGen:C1868675,OMIM:600116	6	162683724	162683724	NM_004562.2:c.245C>A	NP_004553.2:p.Ala82Glu	NC_000006.11:g.162683724G>T	OMIM Allelic Variant:602544.0011	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.8-?_171+?del	5071	PARK2	Pathogenic	-1	RCV000007456;	N	MedGen:C1868675,OMIM:600116	6	162864342	162864505	NM_004562.2:c.8-?_171+?del			OMIM Allelic Variant:602544.0005	C1868675 600116 Parkinson disease 2
NM_004562.2(PARK2):c.167T>A (p.Val56Glu)	5071	PARK2	Pathogenic	137853059	RCV000007463;	N	MedGen:C1868675,OMIM:600116	6	162864346	162864346	NM_004562.2:c.167T>A	NP_004553.2:p.Val56Glu	NC_000006.11:g.162864346A>T	OMIM Allelic Variant:602544.0013	C1868675 600116 Parkinson disease 2
NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs)	5420	PODXL	Likely pathogenic	759639123	RCV000210039;	N	MedGen:C1868675,OMIM:600116	7	131241029	131241030	NM_005397.3:c.89_90insGTCGCCCC	NP_005388.2:p.Gln32Profs	NC_000007.13:g.131241029_131241030insGGGGCGAC	-	C1868675 600116 Parkinson disease 2