Egenskap
High stepping
Kliniskt namn: Steppage gait
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.
Sammanfattning
- Kroppssystem
- Abnormality of the nervous system
Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/steppage-gait.json"
page <- fromJSON(url)
page$trait$nameLäs generna kopplade till High stepping, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test48 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Amyotrophic Lateral Sclerosis (ALS)Reads 22 of these genesHNRNPA1SPTLC1SPTLC2SQSTM1ANGANXA11About this report →
- Charcot-Marie-Tooth DiseaseReads 32 of these genesHSPB8MARS1MPV17PDK3PLEKHG5RAB7AAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 44 of these genesHSPB8MARS1MPV17PDK3PLEKHG5RAB7AAbout this report →
- Frontotemporal DementiaReads 7 of these genesHNRNPA1SQSTM1CCNFCHCHD10CHMP2BTBK1About this report →
Show 44 more reports
- Distal MyopathiesReads 8 of these genesGNEHNRNPA1TIA1TTNADSS1LRP12About this report →
- Inherited Neurodegenerative DisordersReads 35 of these genesDARS2HSPB8PLEKHG5SPTAN1TDP1ATL1About this report →
- Spinal Muscular AtrophyReads 7 of these genesHSPB8PLEKHG5SPTAN1BICD2CHCHD10DCTN1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)Reads 1 of these genesPMP22About this report →
- OPTN-Related Normal-Tension GlaucomaReads 1 of these genesOPTNAbout this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 4 of these genesATL1ATL3SPTLC1SPTLC2About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC30A10About this report →
- LipodystrophyReads 2 of these genesLMNAMFN2About this report →
- Myofibrillar MyopathiesReads 2 of these genesHSPB8TTNAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesTREM2About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Congenital MyopathiesReads 2 of these genesTTNNEBAbout this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- Dilated CardiomyopathyReads 3 of these genesLMNATTNFHL1About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesTDP1MTTPCOA7About this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- GlomerulosclerosisReads 1 of these genesINF2About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesLMNATTNAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesMPV17SCO2MTRFRPOLGAbout this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesINF2About this report →
- DNA Repair DiseaseReads 2 of these genesTDP1COA7About this report →
- Familial HypomagnesemiaReads 1 of these genesATP1A1About this report →
- Usher SyndromeReads 1 of these genesHARS1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesSPTAN1ATL1About this report →
- Leigh SyndromeReads 2 of these genesSCO2MTRFRAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesDHHAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesDARS2TREM2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesSLC25A46About this report →
- Dyskeratosis CongenitaReads 1 of these genesDNMT3BAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesATXN2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesVAC14About this report →
- Epilepsy (Full Panel)Reads 2 of these genesSPTAN1GRIN2AAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesSMCHD1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNEAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesDHHAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesKARS1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesGNEAbout this report →
- Intellectual DisabilityReads 1 of these genesERBB4About this report →
Läs generna kopplade till High stepping, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test97 gener kopplade till High stepping
Förändringar i dessa gener orsakar sällsynta tillstånd där High stepping förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| HSPB3heat shock protein family B (small) member 3 | Alltid | I 1 tillstånd |
| HSPB8heat shock protein family B (small) member 8 | Alltid | I 1 tillstånd |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tillstånd |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tillstånd |
| PDK3pyruvate dehydrogenase kinase 3 | Alltid | I 2 tillstånd |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Alltid | I 1 tillstånd |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alltid | I 1 tillstånd |
| RAB7ARAB7A, member RAS oncogene family | Alltid | I 1 tillstånd |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 2 tillstånd |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tillstånd |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 1 tillstånd |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Alltid | I 2 tillstånd |
| ARHGAP19Rho GTPase activating protein 19 | Mycket ofta (80–99 %) | I 1 tillstånd |
| HSPB1heat shock protein family B (small) member 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ATL1atlastin GTPase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ATL3atlastin GTPase 3 | Ofta (30–79 %) | I 1 tillstånd |
| DNMT3BDNA methyltransferase 3 beta | Ofta (30–79 %) | I 1 tillstånd |
| DUX4double homeobox 4 | Ofta (30–79 %) | I 1 tillstånd |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Ofta (30–79 %) | I 1 tillstånd |
| FRG1FSHD region gene 1 | Ofta (30–79 %) | I 1 tillstånd |
| GNB4G protein subunit beta 4 | Ofta (30–79 %) | I 1 tillstånd |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofta (30–79 %) | I 1 tillstånd |
| HARS1histidyl-tRNA synthetase 1 | Ofta (30–79 %) | I 2 tillstånd |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofta (30–79 %) | I 3 tillstånd |
| KLHL9kelch like family member 9 | Ofta (30–79 %) | I 1 tillstånd |
| LMNAlamin A/C | Ofta (30–79 %) | I 2 tillstånd |
| MTRFRmitochondrial translation release factor in rescue | Ofta (30–79 %) | I 1 tillstånd |
| NEFLneurofilament light chain | Ofta (30–79 %) | I 4 tillstånd |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofta (30–79 %) | I 2 tillstånd |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| SQSTM1sequestosome 1 | Ofta (30–79 %) | I 3 tillstånd |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Ofta (30–79 %) | I 2 tillstånd |
| TTNtitin | Ofta (30–79 %) | I 2 tillstånd |
| VAC14VAC14 component of PIKFYVE complex | Ofta (30–79 %) | I 1 tillstånd |
| ADSS1adenylosuccinate synthase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ANGangiogenin | Ibland (5–29 %) | I 1 tillstånd |
| ANXA11annexin A11 | Ibland (5–29 %) | I 1 tillstånd |
| ATXN2ataxin 2 | Ibland (5–29 %) | I 1 tillstånd |
Visa 57 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| BICD2BICD cargo adaptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| CCNFcyclin F | Ibland (5–29 %) | I 1 tillstånd |
| CFAP410cilia and flagella associated protein 410 | Ibland (5–29 %) | I 1 tillstånd |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ibland (5–29 %) | I 1 tillstånd |
| CHMP2Bcharged multivesicular body protein 2B | Ibland (5–29 %) | I 1 tillstånd |
| CLIC2CLIC family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| DAOD-amino acid oxidase | Ibland (5–29 %) | I 1 tillstånd |
| DCTN1dynactin subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| DHHdesert hedgehog signaling molecule | Ibland (5–29 %) | I 1 tillstånd |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ibland (5–29 %) | I 1 tillstånd |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ibland (5–29 %) | I 1 tillstånd |
| FUSFUS RNA binding protein | Ibland (5–29 %) | I 1 tillstånd |
| GLE1GLE1 RNA export mediator | Ibland (5–29 %) | I 1 tillstånd |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ibland (5–29 %) | I 1 tillstånd |
| HINT1histidine triad nucleotide binding protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| LRP12LDL receptor related protein 12 | Ibland (5–29 %) | I 1 tillstånd |
| MATR3matrin 3 | Ibland (5–29 %) | I 1 tillstånd |
| MFN2mitofusin 2 | Ibland (5–29 %) | I 3 tillstånd |
| MTTPmicrosomal triglyceride transfer protein | Ibland (5–29 %) | I 1 tillstånd |
| NEBnebulin | Ibland (5–29 %) | I 1 tillstånd |
| NEFHneurofilament heavy chain | Ibland (5–29 %) | I 1 tillstånd |
| NEK1NIMA related kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| OPTNoptineurin | Ibland (5–29 %) | I 1 tillstånd |
| PFN1profilin 1 | Ibland (5–29 %) | I 1 tillstånd |
| PMP22peripheral myelin protein 22 | Ibland (5–29 %) | I 4 tillstånd |
| PRPHperipherin | Ibland (5–29 %) | I 1 tillstånd |
| SBF2SET binding factor 2 | Ibland (5–29 %) | I 1 tillstånd |
| SOD1superoxide dismutase 1 | Ibland (5–29 %) | I 1 tillstånd |
| TAF15TATA-box binding protein associated factor 15 | Ibland (5–29 %) | I 1 tillstånd |
| TARDBPTAR DNA binding protein | Ibland (5–29 %) | I 1 tillstånd |
| TBK1TANK binding kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| TREM2triggering receptor expressed on myeloid cells 2 | Ibland (5–29 %) | I 1 tillstånd |
| UBQLN2ubiquilin 2 | Ibland (5–29 %) | I 1 tillstånd |
| UNC13Aunc-13 homolog A | Ibland (5–29 %) | I 1 tillstånd |
| VAPBVAMP associated protein B and C | Ibland (5–29 %) | I 1 tillstånd |
| VCPvalosin containing protein | Ibland (5–29 %) | I 2 tillstånd |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Inte registrerat | I 1 tillstånd |
| COA7cytochrome c oxidase assembly factor 7 | Inte registrerat | I 1 tillstånd |
| COX6A1cytochrome c oxidase subunit 6A1 | Inte registrerat | I 1 tillstånd |
| DCAF8DDB1 and CUL4 associated factor 8 | Inte registrerat | I 1 tillstånd |
| EGR2early growth response 2 | Inte registrerat | I 2 tillstånd |
| FHL1four and a half LIM domains 1 | Inte registrerat | I 1 tillstånd |
| GANgigaxonin | Inte registrerat | I 1 tillstånd |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Inte registrerat | I 1 tillstånd |
| GDAP1ganglioside induced differentiation associated protein 1 | Inte registrerat | I 1 tillstånd |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Inte registrerat | I 1 tillstånd |
| INF2inverted formin 2 | Inte registrerat | I 1 tillstånd |
| KARS1lysyl-tRNA synthetase 1 | Inte registrerat | I 1 tillstånd |
| KIF1Bkinesin family member 1B | Inte registrerat | I 1 tillstånd |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Inte registrerat | I 1 tillstånd |
| MPZmyelin protein zero | Inte registrerat | I 4 tillstånd |
| PMP2peripheral myelin protein 2 | Inte registrerat | I 1 tillstånd |
| POLGDNA polymerase gamma, catalytic subunit | Inte registrerat | I 1 tillstånd |
| PRXperiaxin | Inte registrerat | I 2 tillstånd |
| SLC25A46solute carrier family 25 member 46 | Inte registrerat | I 1 tillstånd |
| SLC30A10solute carrier family 30 member 10 | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.19-9814e911.
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Fri frakt · Resultat inom 6–8 veckor
