Human Phenotype Ontology 
Grandparent Node:
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Abnormality of extrapyramidal motor function (HP:0002071)help
Parent Node:
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Parkinsonism (HP:0001300)help
..Starting node
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Parkinsonism with favorable response to dopaminergic medication (HP:0002548)help
Term ID: 2548
Name: Parkinsonism with favorable response to dopaminergic medication
Synonym: Favorable response to levodopa; Favourable response to levodopa; Parkinsonism with favourable response to dopaminergic medication
Definition: Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
Comments:
Reference: HP:0002548
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040283 - Occasional140
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040281 - Very frequent140
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvementHP:0040283 - Occasional5
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002548HP:0002548Parkinsonism with favorable response to dopaminergic medication0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37


Genes (24) :ATP13A2 ATP7B DNAJC13 EIF4G1 FBXO7 GBA1 GCH1 GIGYF2 HTRA2 LRRK2 MAPT PARK7 PDE10A PLA2G6 POLG PSAP RAB39B SNCA TAF1 TH TK2 UCHL1 UQCRC1 VPS35

Diseases (24) :ORPHA:314632 OMIM:606693 OMIM:277900 ORPHA:411602 OMIM:260300 OMIM:128230 OMIM:607688 OMIM:610297 OMIM:607060 ORPHA:240071 ORPHA:240103 ORPHA:240085 OMIM:606324 ORPHA:494541 ORPHA:199351 ORPHA:254886 OMIM:157640 OMIM:619491 OMIM:311510 OMIM:314250 ORPHA:53351 OMIM:605407 OMIM:613643 OMIM:619279
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.