Požymis
Balance impairment
Klinikinis pavadinimas: Postural instability
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
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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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Balance impairment. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 2 ligose |
| ABCC9ATP binding cassette subfamily C member 9 | Visada | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Visada | 3 ligose |
| COQ4coenzyme Q4 | Visada | 2 ligose |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Visada | 3 ligose |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 1 ligoje |
| FBXO7F-box protein 7 | Visada | 2 ligose |
| LAMB1laminin subunit beta 1 | Visada | 1 ligoje |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Visada | 1 ligoje |
| MAPTmicrotubule associated protein tau | Visada | 6 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Visada | 1 ligoje |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Visada | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Labai dažnai (80–99%) | 2 ligose |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| MMEmembrane metalloendopeptidase | Labai dažnai (80–99%) | 1 ligoje |
| PODXLpodocalyxin like | Labai dažnai (80–99%) | 2 ligose |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Labai dažnai (80–99%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Labai dažnai (80–99%) | 3 ligose |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 2 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATXN8ataxin 8 | Dažnai (30–79%) | 1 ligoje |
| ATXN8OSATXN8 opposite strand lncRNA | Dažnai (30–79%) | 2 ligose |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Dažnai (30–79%) | 1 ligoje |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Dažnai (30–79%) | 3 ligose |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 4 ligose |
| DDHD1DDHD domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 2 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| KCND3potassium voltage-gated channel subfamily D member 3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 70 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LRRK2leucine rich repeat kinase 2 | Dažnai (30–79%) | 3 ligose |
| MAB21L1mab-21 like 1 | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| PARK7Parkinsonism associated deglycase | Dažnai (30–79%) | 1 ligoje |
| PINK1PTEN induced kinase 1 | Dažnai (30–79%) | 2 ligose |
| PLA2G6phospholipase A2 group VI | Dažnai (30–79%) | 2 ligose |
| PMP22peripheral myelin protein 22 | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Dažnai (30–79%) | 1 ligoje |
| PRKNparkin RBR E3 ubiquitin protein ligase | Dažnai (30–79%) | 2 ligose |
| PRRT2proline rich transmembrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Dažnai (30–79%) | 2 ligose |
| SNCAsynuclein alpha | Dažnai (30–79%) | 4 ligose |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Dažnai (30–79%) | 2 ligose |
| VPS13Cvacuolar protein sorting 13 homolog C | Dažnai (30–79%) | 2 ligose |
| ABCC6ATP binding cassette subfamily C member 6 | Kartais (5–29%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| CABP4calcium binding protein 4 | Kartais (5–29%) | 1 ligoje |
| CXCR4C-X-C motif chemokine receptor 4 | Kartais (5–29%) | 1 ligoje |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Kartais (5–29%) | 1 ligoje |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Kartais (5–29%) | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Kartais (5–29%) | 2 ligose |
| GIGYF2GRB10 interacting GYF protein 2 | Kartais (5–29%) | 2 ligose |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Kartais (5–29%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Kartais (5–29%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Kartais (5–29%) | 1 ligoje |
| LCA5lebercilin LCA5 | Kartais (5–29%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Kartais (5–29%) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Kartais (5–29%) | 1 ligoje |
| NIPA1NIPA magnesium transporter 1 | Kartais (5–29%) | 1 ligoje |
| NIPA2NIPA magnesium transporter 2 | Kartais (5–29%) | 1 ligoje |
| OPHN1oligophrenin 1 | Kartais (5–29%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| POU3F3POU class 3 homeobox 3 | Kartais (5–29%) | 1 ligoje |
| PRPH2peripherin 2 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Kartais (5–29%) | 1 ligoje |
| RUBCNrubicon autophagy regulator | Kartais (5–29%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Kartais (5–29%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Kartais (5–29%) | 1 ligoje |
| TUBG1tubulin gamma 1 | Kartais (5–29%) | 1 ligoje |
| VPS35VPS35 retromer complex component | Kartais (5–29%) | 2 ligose |
| ADAT3adenosine deaminase tRNA specific 3 | Retai (1–4 %) | 1 ligoje |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 2 ligose |
| ATXN3ataxin 3 | Neužfiksuota | 2 ligose |
| CSF1Rcolony stimulating factor 1 receptor | Neužfiksuota | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Neužfiksuota | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Neužfiksuota | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Neužfiksuota | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Neužfiksuota | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Neužfiksuota | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Neužfiksuota | 1 ligoje |
| RFC1replication factor C subunit 1 | Neužfiksuota | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Neužfiksuota | 1 ligoje |
| SNCAIPsynuclein alpha interacting protein | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | 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.
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- 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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