Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Postural instability (HP:0002172)help
Term ID: 2172
Name: Postural instability
Synonym: Abnormal retropulsion test; Balance impairment; Imbalance
Definition: A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Comments:
Reference: HP:0002172
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002172HP:0002172Postural instability0ATP13A2 CL E G H23400314632ORPHA173830213610513
HP:0002172HP:0002172Postural instability0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM173830213610513
HP:0002172HP:0002172Postural instability0ATP1A3 CL E G H47871517ORPHA1790801182350
HP:0002172HP:0002172Postural instability0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002172HP:0002172Postural instability0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0002172HP:0002172Postural instability0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0002172HP:0002172Postural instability0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002172HP:0002172Postural instability0ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0002172HP:0002172Postural instability0C19orf12 CL E G H83636289560ORPHA127625443614297
HP:0002172HP:0002172Postural instability0CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002172HP:0002172Postural instability0CACNB4 CL E G H785211067ORPHA13121404601949
HP:0002172HP:0002172Postural instability0COQ2 CL E G H27235227510ORPHA120525223609825
HP:0002172HP:0002172Postural instability0COQ2 CL E G H2723598933ORPHA120525223609825
HP:0002172HP:0002172Postural instability0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0002172HP:0002172Postural instability0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM15182433164770
HP:0002172HP:0002172Postural instability0DDHD1 CL E G H80821101008ORPHA130219714614603
HP:0002172HP:0002172Postural instability0DNAJC6 CL E G H9829391411ORPHA123515469608375
HP:0002172HP:0002172Postural instability0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM123515469608375
HP:0002172HP:0002172Postural instability0FBXO7 CL E G H25793171695ORPHA119113586605648
HP:0002172HP:0002172Postural instability0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM119113586605648
HP:0002172HP:0002172Postural instability0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0002172HP:0002172Postural instability0KCNA1 CL E G H373637612ORPHA14766218176260
HP:0002172HP:0002172Postural instability0KCND3 CL E G H375298772ORPHA13996239605411
HP:0002172HP:0002172Postural instability0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11127981601828
HP:0002172HP:0002172Postural instability0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11058800190040
HP:0002172HP:0002172Postural instability0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13458804173410
HP:0002172HP:0002172Postural instability0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM130114581608309
HP:0002172HP:0002172Postural instability0PLA2G6 CL E G H8398199351ORPHA15989039603604
HP:0002172HP:0002172Postural instability0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15989039603604
HP:0002172HP:0002172Postural instability0PODXL CL E G H5420391411ORPHA11349171602632
HP:0002172HP:0002172Postural instability0PRKAR1B CL E G H5575412066ORPHA11889390176911
HP:0002172HP:0002172Postural instability0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16558607602544
HP:0002172HP:0002172Postural instability0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM110418466604123
HP:0002172HP:0002172Postural instability0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM128110947158378
HP:0002172HP:0002172Postural instability0SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002172HP:0002172Postural instability0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM118825355611146
HP:0002172HP:0002172Postural instability0SNCA CL E G H6622171695ORPHA117711138163890
HP:0002172HP:0002172Postural instability0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM117711138163890
HP:0002172HP:0002172Postural instability0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111811139603779
HP:0002172HP:0002172Postural instability0STUB1 CL E G H10273412057ORPHA117011427607207
HP:0002172HP:0002172Postural instability0SYNJ1 CL E G H8867391411ORPHA1104611503604297
HP:0002172HP:0002172Postural instability0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1104611503604297
HP:0002172HP:0002172Postural instability0TAF1 CL E G H687253351ORPHA134511535313650
HP:0002172HP:0002172Postural instability0TRPC3 CL E G H7222458798ORPHA14412335602345
HP:0002172HP:0002172Postural instability0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002172HP:0002172Postural instability0ABCC6 CL E G H368758Apo A-I deficiencyORPHA0130757603234
HP:0002172HP:0002172Postural instability0ALDH18A1 CL E G H5832447753ORPHA04379722138250
HP:0002172HP:0002172Postural instability0DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0002172HP:0002172Postural instability0EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0002172HP:0002172Postural instability0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA04383356173335
HP:0002172HP:0002172Postural instability0GBA CL E G H2629411602ORPHA04177606463
HP:0002172HP:0002172Postural instability0GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0002172HP:0002172Postural instability0KCNC3 CL E G H374898768ORPHA02166235176264
HP:0002172HP:0002172Postural instability0LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0002172HP:0002172Postural instability0RUBCN CL E G H9711404499ORPHA011828991613516
HP:0002172HP:0002172Postural instability0SNCA CL E G H6622411602ORPHA017711138163890
HP:0002172HP:0002172Postural instability0VPS35 CL E G H55737411602ORPHA018413487601501


Genes (46) :ABCC6 ALDH18A1 ATP13A2 ATP1A3 ATXN2 ATXN3 ATXN8 ATXN8OS C19ORF12 C19orf12 CACNA1A CACNB4 COQ2 CSF1R DDHD1 DNAJC13 DNAJC6 EIF4G1 ENPP1 FBXO7 GARS GBA GIGYF2 KCNA1 KCNC3 KCND3 LRRK2 NR4A2 PDGFB PDGFRB PINK1 PLA2G6 PODXL PRKAR1B PRKN RNASEH1 RUBCN SLC20A2 SLC30A10 SNCA SNCAIP STUB1 SYNJ1 TAF1 TRPC3 VPS35

Diseases (43) :758 447753 314632 606693 71517 128235 183090 109150 98760 289560 98758 211067 227510 98933 607426 221820 101008 411602 391411 615528 171695 260300 601472 37612 98768 98772 168600 213600 605909 199351 612953 412066 600116 616479 404499 309854 613280 168601 412057 615530 53351 458798 616410
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.