MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Parkinson Disease (D010300)
..Starting node
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PARKINSON DISEASE 21 (OMIM:616361)

       Child Nodes:



 Sister Nodes: 
..expandAMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..expandParalysis Agitans, Juvenile, Of Hunt (C562469)
..expandPARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..expandParkinson Disease 10 (C564653)
..expandParkinson Disease 11 (C564345)
..expandPARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..expandParkinson Disease 12 (C564486)
..expandParkinson Disease 13 (C565204)
..expandPARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..expandPARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..expandParkinson Disease 16 (C567726)
..expandPARKINSON DISEASE 17 (OMIM:614203)
..expandPARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..expandPARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..expandPARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..expandPARKINSON DISEASE 21 (OMIM:616361)
..expandPARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..expandPARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..expandParkinson disease 3 (C537176)
..expandParkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..expandParkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..expandPARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..expandParkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..expandParkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..expandPARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..expandParkinson Disease, Familial, Type 1 (C566823)
..expandPARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandParkinsonism, early onset with mental retardation (C537179)
..expandParkinsonism-Dystonia, Infantile (C567730)
..expandProgressive supranuclear palsy atypical (C537240)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9552
Name:PARKINSON DISEASE 21
Definition:
Alternative IDs:
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/616361 |C10.228.662.600.400/616361 |C10.574.812/616361
Synonyms:PARK21
Slim Mappings:Nervous system disease
Reference: MedGen: 616361
MeSH: 616361
OMIM: 616361;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002067Bradykinesia
3 HP:0100315Lewy bodies
4 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
5 HP:0002172Postural instability
6 HP:0002063Rigidity
7 HP:0003677Slow progression
8 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser)23317DNAJC13Conflicting interpretations of pathogenicityrs387907571RCV000049582|RCV000170476|RCV000170494; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600|MedGen:C0270736|MONDO:MONDO:0014604,MedGen:C4225353,OMIM:616361, Orphanet:4116023132196839132196839AG3:g.132196839A>GClinGen:CA199652,UniProtKB:O75165#VAR_073785,OMIM:614334.0001C0270736 Essential tremor;
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly)23317DNAJC13Conflicting interpretations of pathogenicityrs61748101RCV000887960|RCV000987334; NMedGen:CN517202|MONDO:MONDO:0014604,MedGen:C4225353,OMIM:616361, Orphanet:4116023132213034132213034AG3:g.132213034A>G-
MSeqDR Portal