Požymis
High stepping
Klinikinis pavadinimas: 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.
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test97 genų susiję su High stepping
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia High stepping. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| HSPB3heat shock protein family B (small) member 3 | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| PDK3pyruvate dehydrogenase kinase 3 | Visada | 2 ligose |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Visada | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Visada | 1 ligoje |
| RAB7ARAB7A, member RAS oncogene family | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 2 ligose |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 1 ligoje |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Visada | 2 ligose |
| ARHGAP19Rho GTPase activating protein 19 | Labai dažnai (80–99%) | 1 ligoje |
| HSPB1heat shock protein family B (small) member 1 | Labai dažnai (80–99%) | 2 ligose |
| ATL1atlastin GTPase 1 | Dažnai (30–79%) | 1 ligoje |
| ATL3atlastin GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Dažnai (30–79%) | 1 ligoje |
| DUX4double homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Dažnai (30–79%) | 1 ligoje |
| FRG1FSHD region gene 1 | Dažnai (30–79%) | 1 ligoje |
| GNB4G protein subunit beta 4 | Dažnai (30–79%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 3 ligose |
| KLHL9kelch like family member 9 | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 2 ligose |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 1 ligoje |
| NEFLneurofilament light chain | Dažnai (30–79%) | 4 ligose |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 2 ligose |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 3 ligose |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Dažnai (30–79%) | 2 ligose |
| TTNtitin | Dažnai (30–79%) | 2 ligose |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| ADSS1adenylosuccinate synthase 1 | Kartais (5–29%) | 1 ligoje |
| ANGangiogenin | Kartais (5–29%) | 1 ligoje |
| ANXA11annexin A11 | Kartais (5–29%) | 1 ligoje |
| ATXN2ataxin 2 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 57 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| CCNFcyclin F | Kartais (5–29%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Kartais (5–29%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Kartais (5–29%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Kartais (5–29%) | 1 ligoje |
| CLIC2CLIC family member 2 | Kartais (5–29%) | 1 ligoje |
| DAOD-amino acid oxidase | Kartais (5–29%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Kartais (5–29%) | 1 ligoje |
| DHHdesert hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| FUSFUS RNA binding protein | Kartais (5–29%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Kartais (5–29%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Kartais (5–29%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Kartais (5–29%) | 1 ligoje |
| MATR3matrin 3 | Kartais (5–29%) | 1 ligoje |
| MFN2mitofusin 2 | Kartais (5–29%) | 3 ligose |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NEFHneurofilament heavy chain | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| OPTNoptineurin | Kartais (5–29%) | 1 ligoje |
| PFN1profilin 1 | Kartais (5–29%) | 1 ligoje |
| PMP22peripheral myelin protein 22 | Kartais (5–29%) | 4 ligose |
| PRPHperipherin | Kartais (5–29%) | 1 ligoje |
| SBF2SET binding factor 2 | Kartais (5–29%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Kartais (5–29%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Kartais (5–29%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Kartais (5–29%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 2 ligose |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Neužfiksuota | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Neužfiksuota | 1 ligoje |
| COX6A1cytochrome c oxidase subunit 6A1 | Neužfiksuota | 1 ligoje |
| DCAF8DDB1 and CUL4 associated factor 8 | Neužfiksuota | 1 ligoje |
| EGR2early growth response 2 | Neužfiksuota | 2 ligose |
| FHL1four and a half LIM domains 1 | Neužfiksuota | 1 ligoje |
| GANgigaxonin | Neužfiksuota | 1 ligoje |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Neužfiksuota | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Neužfiksuota | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Neužfiksuota | 1 ligoje |
| INF2inverted formin 2 | Neužfiksuota | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| MPZmyelin protein zero | Neužfiksuota | 4 ligose |
| PMP2peripheral myelin protein 2 | Neužfiksuota | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Neužfiksuota | 1 ligoje |
| PRXperiaxin | Neužfiksuota | 2 ligose |
| SLC25A46solute carrier family 25 member 46 | Neužfiksuota | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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