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Parkinson Disease (D010300)
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PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)

       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:9545
Name:PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
Definition:
Alternative IDs:DO:DOID:0060900
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/612953 |C10.228.662.600.400/612953 |C10.574.812/612953
Synonyms:DYSTONIA-PARKINSONISM, ADULT-ONSET |PARK14
Slim Mappings:Nervous system disease
Reference: MedGen: 612953
MeSH: 612953
OMIM: 612953;
MSeqDR LSDB:  
Genes: PDHA1; PLA2G6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000718Aggressive behavior
3 HP:0002067Bradykinesia
4 HP:0002312Clumsiness
5 HP:0000716Depressivity
NAMDC:  Depression
6 HP:0001260Dysarthria
NAMDC:  Dysarthria
7 HP:0001332Dystonia
NAMDC:  Dystonia
8 HP:0003236Elevated serum creatine phosphokinase
9 HP:0006892Frontotemporal cerebral atrophy
10 HP:0002145Frontotemporal dementia
11 HP:0002283Global brain atrophy
12 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
14 HP:0000751Personality changes
15 HP:0002172Postural instability
16 HP:0003678Rapidly progressive
17 HP:0002063Rigidity
18 HP:0001257Spasticity
NAMDC:  Spasticity
19 HP:0000605Supranuclear gaze palsy
20 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003560.3(PLA2G6):c.2239C>T (p.Arg747Trp)8398PLA2G6Pathogenic/Likely pathogenic121908687RCV000763482; RCV000763482; RCV000006582; RCV000763482; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223850854838508548OMIM Allelic Variant:603604.0010,UniProtKB (protein):O60733#VAR_062531C2751842 612953 Parkinson disease 14;
NM_003560.3(PLA2G6):c.2222G>A (p.Arg741Gln)8398PLA2G6Pathogenic121908686RCV000006581; NMedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223850856538508565OMIM Allelic Variant:603604.0009,UniProtKB (protein):O60733#VAR_062530C2751842 612953 Parkinson disease 14;
NM_003560.2(PLA2G6):c.1904G>A (p.Arg635Gln)8398PLA2G6Uncertain significance387906863RCV000779372; RCV000023314; NMedGen:CN204472, Orphanet:ORPHA329303; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223851166438511664OMIM Allelic Variant:603604.0011
NM_003560.3(PLA2G6):c.1615G>A (p.Gly539Ser)8398PLA2G6Uncertain significance143826762RCV000765649; RCV000147295; RCV000765649; RCV000765649; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; Human Phenotype Ontology:HP:0012675,MedGen:C4021076; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223851689338516893-C4021076 Iron accumulation in brain;
NM_003560.3(PLA2G6):c.1427+1G>A8398PLA2G6Likely pathogenic750939090RCV000500147; RCV000763483; RCV000763483; RCV000763483; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223852237738522377-C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.3(PLA2G6):c.1354C>T (p.Gln452Ter)8398PLA2G6Pathogenic387906864RCV000023315; NMedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223852245138522451OMIM Allelic Variant:603604.0012C2751842 612953 Parkinson disease 14;
NM_003560.3(PLA2G6):c.991G>T (p.Asp331Tyr)8398PLA2G6Pathogenic199935023RCV000023319; RCV000498427; NMedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:CN517202223852892438528924OMIM Allelic Variant:603604.0016CN517202 not provided;
NM_003560.3(PLA2G6):c.898G>A (p.Ala300Thr)8398PLA2G6Uncertain significance528966598RCV000345705; RCV000765650; RCV000765650; RCV000765650; RCV000224530; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:CN517202223852901738529017-C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.3(PLA2G6):c.416G>A (p.Arg139His)8398PLA2G6Uncertain significance141825182RCV000765651; RCV000765651; RCV000765651; RCV000585504; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:CN517202223854145438541454-CN517202 not provided;
NM_003560.3(PLA2G6):c.238G>A (p.Ala80Thr)8398PLA2G6Uncertain significance121908685RCV000535771; RCV000660638; RCV000006580; RCV000660638; RCV000660638; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223854163238541632OMIM Allelic Variant:603604.0008C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.3(PLA2G6):c.216C>A (p.Phe72Leu)8398PLA2G6Pathogenic-1RCV000023316; NMedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351223854165438541654OMIM Allelic Variant:603604.0013C2751842 612953 Parkinson disease 14;
NM_003560.3(PLA2G6):c.101C>T (p.Ser34Leu)8398PLA2G6Uncertain significance147948449RCV000362034; RCV000765652; RCV000765652; RCV000765652; RCV000512651; RCV000518740; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:CN517202; MedGen:CN169374223856533338565333-C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.3(PLA2G6):c.91G>A (p.Asp31Asn)8398PLA2G6Uncertain significance150024227RCV000260236; RCV000765653; RCV000765653; RCV000765653; RCV000762074; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:CN517202223856534338565343-C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.3(PLA2G6):c.16C>T (p.Arg6Cys)8398PLA2G6Uncertain significance143250889RCV000764385; RCV000764385; RCV000764385; RCV000584924; NMedGen:C0270724,OMIM:256600, Orphanet:ORPHA35069,SNOMED CT:52713000; MedGen:C1857747,OMIM:610217; MedGen:C2751842,OMIM:612953, Orphanet:ORPHA199351; MedGen:CN517202223856541838565418-CN517202 not provided;
MSeqDR Portal