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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Tip-toe gait (HP:0030051)help
Term ID: 30051
Name: Tip-toe gait
Synonym: Tiptoe gait; Toe walking; Walking on tiptoes
Definition: An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Comments:
Reference: HP:0030051
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
..expandobsolete Toe walking (HP:0040083) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030051HP:0030051Tip-toe gait0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0030051HP:0030051Tip-toe gait0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0030051HP:0030051Tip-toe gait0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0030051HP:0030051Tip-toe gait0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0030051HP:0030051Tip-toe gait0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0030051HP:0030051Tip-toe gait0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0030051HP:0030051Tip-toe gait0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0030051HP:0030051Tip-toe gait0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0030051HP:0030051Tip-toe gait0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0030051HP:0030051Tip-toe gait0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0030051HP:0030051Tip-toe gait0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0030051HP:0030051Tip-toe gait0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0030051HP:0030051Tip-toe gait0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0030051HP:0030051Tip-toe gait0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0030051HP:0030051Tip-toe gait0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0030051HP:0030051Tip-toe gait0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0030051HP:0030051Tip-toe gait0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0030051HP:0030051Tip-toe gait0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 5618
HP:0030051HP:0030051Tip-toe gait0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0030051HP:0030051Tip-toe gait0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040283 - Occasional29
HP:0030051HP:0030051Tip-toe gait0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0030051HP:0030051Tip-toe gait0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophy1496
HP:0030051HP:0030051Tip-toe gait0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0030051HP:0030051Tip-toe gait0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0030051HP:0030051Tip-toe gait0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0030051HP:0030051Tip-toe gait0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0030051HP:0030051Tip-toe gait0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0030051HP:0030051Tip-toe gait0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0030051HP:0030051Tip-toe gait0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040282 - Frequent2
HP:0030051HP:0030051Tip-toe gait0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive.2
HP:0030051HP:0030051Tip-toe gait0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0030051HP:0030051Tip-toe gait0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0030051HP:0030051Tip-toe gait0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0030051HP:0030051Tip-toe gait0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0030051HP:0030051Tip-toe gait0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0030051HP:0030051Tip-toe gait0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0030051HP:0030051Tip-toe gait0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0030051HP:0030051Tip-toe gait0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0030051HP:0030051Tip-toe gait0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0030051HP:0030051Tip-toe gait0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030051HP:0030051Tip-toe gait0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0030051HP:0030051Tip-toe gait0H4C5 CL E G H83674790OMIM:619950
HP:0030051HP:0030051Tip-toe gait0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0030051HP:0030051Tip-toe gait0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0030051HP:0030051Tip-toe gait0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040283 - Occasional
HP:0030051HP:0030051Tip-toe gait0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0030051HP:0030051Tip-toe gait0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0030051HP:0030051Tip-toe gait0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0030051HP:0030051Tip-toe gait0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0030051HP:0030051Tip-toe gait0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0030051HP:0030051Tip-toe gait0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0030051HP:0030051Tip-toe gait0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0030051HP:0030051Tip-toe gait0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0030051HP:0030051Tip-toe gait0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0030051HP:0030051Tip-toe gait0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0030051HP:0030051Tip-toe gait0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0030051HP:0030051Tip-toe gait0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0030051HP:0030051Tip-toe gait0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0030051HP:0030051Tip-toe gait0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0030051HP:0030051Tip-toe gait0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0030051HP:0030051Tip-toe gait0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0030051HP:0030051Tip-toe gait0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0030051HP:0030051Tip-toe gait0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis3
HP:0030051HP:0030051Tip-toe gait0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0030051HP:0030051Tip-toe gait0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0030051HP:0030051Tip-toe gait0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0030051HP:0030051Tip-toe gait0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0030051HP:0030051Tip-toe gait0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040283 - Occasional83
HP:0030051HP:0030051Tip-toe gait0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0030051HP:0030051Tip-toe gait0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030051HP:0030051Tip-toe gait0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0030051HP:0030051Tip-toe gait0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0030051HP:0030051Tip-toe gait0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0030051HP:0030051Tip-toe gait0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0030051HP:0030051Tip-toe gait0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030051HP:0030051Tip-toe gait0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0030051HP:0030051Tip-toe gait0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0030051HP:0030051Tip-toe gait0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030051HP:0030051Tip-toe gait0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0030051HP:0030051Tip-toe gait0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0030051HP:0030051Tip-toe gait0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0030051HP:0030051Tip-toe gait0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0030051HP:0030051Tip-toe gait0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0030051HP:0030051Tip-toe gait0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0030051HP:0030051Tip-toe gait0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0030051HP:0030051Tip-toe gait0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0030051HP:0030051Tip-toe gait0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0030051HP:0030051Tip-toe gait0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0030051HP:0030051Tip-toe gait0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0030051HP:0030051Tip-toe gait0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7


Genes (80) :AASS ADSS1 AGRN AIFM1 ALDH18A1 ALS2 ARSA ATL1 B4GALNT1 BICD2 CAPN3 CHAT COASY COL12A1 COL13A1 CRPPA CYP2U1 DDHD2 DEAF1 DMD DYNC1H1 DYSF EMD ERLIN1 FBN1 FHL1 FKRP FKTN FUS GFM2 GJB1 GNB2 GNPTAB H4C5 HADHA HADHB HARS1 INPP5K KCNA1 KIDINS220 KIF1C KMT2B KY LMNA LMX1B LRSAM1 MORC2 MYH7 MYO9A MYPN PANK2 PEX16 PI4KA PNPLA8 POMT1 PSAP SBF2 SGCA SGCG SIGMAR1 SLC18A3 SLC25A1 SLC39A14 SLC5A7 SMG8 SNAP25 SPG11 SPTBN1 SPTLC1 SYNE1 SYNE2 SYT2 TLK2 TMEM43 TPM2 TPM3 TRNE VAMP1 VCP YY1

Diseases (66) :ORPHA:2203 ORPHA:482601 ORPHA:98914 ORPHA:83629 ORPHA:447760 OMIM:205100 ORPHA:300605 ORPHA:309256 ORPHA:100984 OMIM:609195 OMIM:615290 ORPHA:267 OMIM:615643 ORPHA:536516 ORPHA:370980 ORPHA:320411 OMIM:615030 ORPHA:320380 ORPHA:468620 ORPHA:98895 OMIM:310200 OMIM:614563 ORPHA:268 OMIM:254130 ORPHA:45448 ORPHA:98863 ORPHA:401785 OMIM:615681 OMIM:614185 OMIM:606612 OMIM:607155 ORPHA:565624 OMIM:302800 OMIM:619503 OMIM:252500 OMIM:619950 ORPHA:746 ORPHA:488333 OMIM:617404 ORPHA:37612 OMIM:617296 ORPHA:397946 OMIM:617284 ORPHA:496689 ORPHA:98853 ORPHA:98855 ORPHA:2614 OMIM:614436 ORPHA:466768 OMIM:160500 ORPHA:171881 ORPHA:216866 OMIM:614877 OMIM:619621 OMIM:251950 ORPHA:99956 ORPHA:62 ORPHA:353 OMIM:617013 OMIM:619268 OMIM:604360 OMIM:619475 OMIM:618050 ORPHA:2596 ORPHA:435387 OMIM:617557
 

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