Tunnus
High stepping
Kliiniline nimetus: 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.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to High stepping, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test97 geeni on seotud tunnusega High stepping
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb High stepping. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| HSPB3heat shock protein family B (small) member 3 | Alati | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Alati | Esineb 1 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| PDK3pyruvate dehydrogenase kinase 3 | Alati | Esineb 2 haiguses |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Alati | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| RAB7ARAB7A, member RAS oncogene family | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 2 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alati | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Alati | Esineb 2 haiguses |
| ARHGAP19Rho GTPase activating protein 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPB1heat shock protein family B (small) member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATL1atlastin GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATL3atlastin GTPase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Sageli (30–79%) | Esineb 1 haiguses |
| DUX4double homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Sageli (30–79%) | Esineb 1 haiguses |
| FRG1FSHD region gene 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNB4G protein subunit beta 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sageli (30–79%) | Esineb 3 haiguses |
| KLHL9kelch like family member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 2 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Sageli (30–79%) | Esineb 1 haiguses |
| NEFLneurofilament light chain | Sageli (30–79%) | Esineb 4 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 3 haiguses |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| TTNtitin | Sageli (30–79%) | Esineb 2 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| ADSS1adenylosuccinate synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANGangiogenin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANXA11annexin A11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 57 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| BICD2BICD cargo adaptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCNFcyclin F | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIC2CLIC family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DAOD-amino acid oxidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHHdesert hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLT8D1glycosyltransferase 8 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| HINT1histidine triad nucleotide binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MATR3matrin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFN2mitofusin 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEFHneurofilament heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPTNoptineurin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PFN1profilin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMP22peripheral myelin protein 22 | Mõnikord (5–29%) | Esineb 4 haiguses |
| PRPHperipherin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SBF2SET binding factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAF15TATA-box binding protein associated factor 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Mõnikord (5–29%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| COA7cytochrome c oxidase assembly factor 7 | Pole registreeritud | Esineb 1 haiguses |
| COX6A1cytochrome c oxidase subunit 6A1 | Pole registreeritud | Esineb 1 haiguses |
| DCAF8DDB1 and CUL4 associated factor 8 | Pole registreeritud | Esineb 1 haiguses |
| EGR2early growth response 2 | Pole registreeritud | Esineb 2 haiguses |
| FHL1four and a half LIM domains 1 | Pole registreeritud | Esineb 1 haiguses |
| GANgigaxonin | Pole registreeritud | Esineb 1 haiguses |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Pole registreeritud | Esineb 1 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| INF2inverted formin 2 | Pole registreeritud | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Pole registreeritud | Esineb 1 haiguses |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Pole registreeritud | Esineb 1 haiguses |
| MPZmyelin protein zero | Pole registreeritud | Esineb 4 haiguses |
| PMP2peripheral myelin protein 2 | Pole registreeritud | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| PRXperiaxin | Pole registreeritud | Esineb 2 haiguses |
| SLC25A46solute carrier family 25 member 46 | Pole registreeritud | Esineb 1 haiguses |
| SLC30A10solute carrier family 30 member 10 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast