Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
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Steppage gait (HP:0003376)help
Term ID: 3376
Name: Steppage gait
Synonym: 'steppage' gait; High stepping
Definition: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Comments:
Reference: HP:0003376
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad-based gait (HP:0002136) help
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandCock-walk gait (HP:0031848) help
..expandDifficulty walking (HP:0002355) help
..expandDifficulty walking backward (HP:0031847) help
..expandFalls (HP:0002527) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait ataxia (HP:0002066) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandTip-toe gait (HP:0030051) help
..expandToe walking (HP:0040083) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003376HP:0003376Steppage gait0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003376HP:0003376Steppage gait0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003376HP:0003376Steppage gait0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM126784613541
HP:0003376HP:0003376Steppage gait0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1612277602072
HP:0003376HP:0003376Steppage gait0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1322277602072
HP:0003376HP:0003376Steppage gait0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM12924891615820
HP:0003376HP:0003376Steppage gait0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM12724891615820
HP:0003376HP:0003376Steppage gait0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM12863239129010
HP:0003376HP:0003376Steppage gait0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM12453239129010
HP:0003376HP:0003376Steppage gait0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12863239129010
HP:0003376HP:0003376Steppage gait0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM12453239129010
HP:0003376HP:0003376Steppage gait0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003376HP:0003376Steppage gait0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003376HP:0003376Steppage gait0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0003376HP:0003376Steppage gait0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0003376HP:0003376Steppage gait0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM144415968606598
HP:0003376HP:0003376Steppage gait0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM142315968606598
HP:0003376HP:0003376Steppage gait0GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM118820731610863
HP:0003376HP:0003376Steppage gait0GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM116920731610863
HP:0003376HP:0003376Steppage gait0GNE CL E G H10020602GNE myopathyCN924915ORPHA168223657603824
HP:0003376HP:0003376Steppage gait0GNE CL E G H10020602GNE myopathyCN924915ORPHA160423657603824
HP:0003376HP:0003376Steppage gait0HARS CL E G H3035488333ORPHA14816142810
HP:0003376HP:0003376Steppage gait0HARS CL E G H3035616625Charcot-Marie-Tooth disease, axonal, type 2w616625C4225265OMIM14816142810
HP:0003376HP:0003376Steppage gait0HSPB1 CL E G H331599940ORPHA12995246602195
HP:0003376HP:0003376Steppage gait0HSPB1 CL E G H331599940ORPHA12725246602195
HP:0003376HP:0003376Steppage gait0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0003376HP:0003376Steppage gait0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0003376HP:0003376Steppage gait0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1655248604624
HP:0003376HP:0003376Steppage gait0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1625248604624
HP:0003376HP:0003376Steppage gait0IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19105542600502
HP:0003376HP:0003376Steppage gait0IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM18405542600502
HP:0003376HP:0003376Steppage gait0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM197323791610982
HP:0003376HP:0003376Steppage gait0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM186423791610982
HP:0003376HP:0003376Steppage gait0KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0003376HP:0003376Steppage gait0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM187116636605995
HP:0003376HP:0003376Steppage gait0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM174216636605995
HP:0003376HP:0003376Steppage gait0KLHL9 CL E G H55958399081ORPHA111018732611201
HP:0003376HP:0003376Steppage gait0KLHL9 CL E G H55958399081ORPHA18618732611201
HP:0003376HP:0003376Steppage gait0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM114866636150330
HP:0003376HP:0003376Steppage gait0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM113476636150330
HP:0003376HP:0003376Steppage gait0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM156325135610933
HP:0003376HP:0003376Steppage gait0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM162725135610933
HP:0003376HP:0003376Steppage gait0MARS CL E G H4141616280Charcot-Marie-Tooth disease, axonal, type 2u616280C4084821OMIM16898156560
HP:0003376HP:0003376Steppage gait0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM194416877608507
HP:0003376HP:0003376Steppage gait0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM182416877608507
HP:0003376HP:0003376Steppage gait0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0003376HP:0003376Steppage gait0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15227225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM14937225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15227225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM14937225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15227225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM14937225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15227225159440
HP:0003376HP:0003376Steppage gait0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM14937225159440
HP:0003376HP:0003376Steppage gait0MYH7 CL E G H4625437572ORPHA132927577160760
HP:0003376HP:0003376Steppage gait0MYH7 CL E G H4625437572ORPHA129607577160760
HP:0003376HP:0003376Steppage gait0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM14897739162280
HP:0003376HP:0003376Steppage gait0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM14387739162280
HP:0003376HP:0003376Steppage gait0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14897739162280
HP:0003376HP:0003376Steppage gait0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM14387739162280
HP:0003376HP:0003376Steppage gait0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM12848811300906
HP:0003376HP:0003376Steppage gait0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM12618811300906
HP:0003376HP:0003376Steppage gait0PMP2 CL E G H5375618279618279618279OMIM1689117170715
HP:0003376HP:0003376Steppage gait0PMP2 CL E G H5375618279618279618279OMIM1489117170715
HP:0003376HP:0003376Steppage gait0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14199118601097
HP:0003376HP:0003376Steppage gait0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM13909118601097
HP:0003376HP:0003376Steppage gait0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14199118601097
HP:0003376HP:0003376Steppage gait0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM13909118601097
HP:0003376HP:0003376Steppage gait0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14199118601097
HP:0003376HP:0003376Steppage gait0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM13909118601097
HP:0003376HP:0003376Steppage gait0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0003376HP:0003376Steppage gait0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0003376HP:0003376Steppage gait0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM197213797605725
HP:0003376HP:0003376Steppage gait0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM186113797605725
HP:0003376HP:0003376Steppage gait0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11659788602298
HP:0003376HP:0003376Steppage gait0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11559788602298
HP:0003376HP:0003376Steppage gait0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM110802135607697
HP:0003376HP:0003376Steppage gait0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM19632135607697
HP:0003376HP:0003376Steppage gait0SCO2 CL E G H9997521411ORPHA144510604604272
HP:0003376HP:0003376Steppage gait0SCO2 CL E G H9997521411ORPHA137010604604272
HP:0003376HP:0003376Steppage gait0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM123825198610826
HP:0003376HP:0003376Steppage gait0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM127425198610826
HP:0003376HP:0003376Steppage gait0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM116725355611146
HP:0003376HP:0003376Steppage gait0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM113925355611146
HP:0003376HP:0003376Steppage gait0SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM147311280601530
HP:0003376HP:0003376Steppage gait0SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM138311280601530
HP:0003376HP:0003376Steppage gait0TDP1 CL E G H5577594124ORPHA119418884607198
HP:0003376HP:0003376Steppage gait0TDP1 CL E G H5577594124ORPHA119018884607198
HP:0003376HP:0003376Steppage gait0TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM119418884607198
HP:0003376HP:0003376Steppage gait0TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM119018884607198
HP:0003376HP:0003376Steppage gait0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM115711802603518
HP:0003376HP:0003376Steppage gait0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM113011802603518
HP:0003376HP:0003376Steppage gait0TTN CL E G H7273609Alopecia immunodeficiencyORPHA11902812403188840
HP:0003376HP:0003376Steppage gait0TTN CL E G H7273609Alopecia immunodeficiencyORPHA11798412403188840
HP:0003376HP:0003376Steppage gait0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11902812403188840
HP:0003376HP:0003376Steppage gait0TTN CL E G H7273600334Distal myopathy Markesbery-Griggs type600334C1838244OMIM11798412403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003376HP:0003376Steppage gait0DHH CL E G H50846168563ORPHA0832865605423
HP:0003376HP:0003376Steppage gait0DHH CL E G H50846168563ORPHA0782865605423
HP:0003376HP:0003376Steppage gait0HINT1 CL E G H3094324442ORPHA01254912601314
HP:0003376HP:0003376Steppage gait0HINT1 CL E G H3094324442ORPHA01144912601314
HP:0003376HP:0003376Steppage gait0MFN2 CL E G H992799947ORPHA094416877608507
HP:0003376HP:0003376Steppage gait0MFN2 CL E G H992799947ORPHA082416877608507


Genes (42) :ATP1A1 C12ORF65 C12orf65 COX6A1 DCAF8 DHH EGR2 FHL1 GAN GDAP1 GNB4 GNE HARS HINT1 HSPB1 HSPB3 IGHMBP2 INF2 KARS KIF1B KLHL9 LMNA LRSAM1 MARS MFN2 MPZ MYH7 NEFL PDK3 PMP2 PMP22 POLG PRX RAB7A SBF2 SCO2 SLC25A46 SLC30A10 SQSTM1 TDP1 TIA1 TTN

Diseases (51) :618036 615035 616039 610100 168563 607678 145900 300695 256850 608340 615185 602 488333 616625 324442 99940 606595 613376 616155 614455 613641 118210 399081 605588 614436 616280 99947 609260 601152 607677 607736 118200 437572 607684 617882 300905 618279 118300 118220 258450 600882 604563 521411 616505 613280 617158 94124 607250 604454 609 600334
 

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