Cecha
Balance impairment
Nazwa kliniczna: 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.
Podsumowanie
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Balance impairment, and the rest of your genome, with one test.
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Zamawiam Genome Test110 genów powiązanych z Balance impairment
Zmiany w tych genach powodują rzadkie choroby, w których występuje Balance impairment. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 2 chorobach |
| ABCC9ATP binding cassette subfamily C member 9 | Zawsze | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zawsze | W 3 chorobach |
| COQ4coenzyme Q4 | Zawsze | W 2 chorobach |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Zawsze | W 3 chorobach |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Zawsze | W 1 chorobie |
| FBXO7F-box protein 7 | Zawsze | W 2 chorobach |
| LAMB1laminin subunit beta 1 | Zawsze | W 1 chorobie |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Zawsze | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Zawsze | W 6 chorobach |
| MPV17mitochondrial inner membrane protein MPV17 | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Zawsze | W 1 chorobie |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Zawsze | W 2 chorobach |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Bardzo często (80–99%) | W 2 chorobach |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| MMEmembrane metalloendopeptidase | Bardzo często (80–99%) | W 1 chorobie |
| PODXLpodocalyxin like | Bardzo często (80–99%) | W 2 chorobach |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Bardzo często (80–99%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Bardzo często (80–99%) | W 3 chorobach |
| ACBD6acyl-CoA binding domain containing 6 | Często (30–79%) | W 1 chorobie |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATP13A2ATPase cation transporting 13A2 | Często (30–79%) | W 2 chorobach |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| ATXN8ataxin 8 | Często (30–79%) | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Często (30–79%) | W 2 chorobach |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Często (30–79%) | W 1 chorobie |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Często (30–79%) | W 3 chorobach |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Często (30–79%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Często (30–79%) | W 4 chorobach |
| DDHD1DDHD domain containing 1 | Często (30–79%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 2 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 2 chorobach |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Często (30–79%) | W 1 chorobie |
| KCND3potassium voltage-gated channel subfamily D member 3 | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 70 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| LRRK2leucine rich repeat kinase 2 | Często (30–79%) | W 3 chorobach |
| MAB21L1mab-21 like 1 | Często (30–79%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Często (30–79%) | W 1 chorobie |
| PARK7Parkinsonism associated deglycase | Często (30–79%) | W 1 chorobie |
| PINK1PTEN induced kinase 1 | Często (30–79%) | W 2 chorobach |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 2 chorobach |
| PMP22peripheral myelin protein 22 | Często (30–79%) | W 1 chorobie |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Często (30–79%) | W 1 chorobie |
| PRKNparkin RBR E3 ubiquitin protein ligase | Często (30–79%) | W 2 chorobach |
| PRRT2proline rich transmembrane protein 2 | Często (30–79%) | W 1 chorobie |
| RAB32RAB32, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 1 chorobie |
| SLC30A10solute carrier family 30 member 10 | Często (30–79%) | W 2 chorobach |
| SNCAsynuclein alpha | Często (30–79%) | W 4 chorobach |
| STUB1STIP1 homology and U-box containing protein 1 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Często (30–79%) | W 2 chorobach |
| VPS13Cvacuolar protein sorting 13 homolog C | Często (30–79%) | W 2 chorobach |
| ABCC6ATP binding cassette subfamily C member 6 | Czasami (5–29%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Czasami (5–29%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Czasami (5–29%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| CXCR4C-X-C motif chemokine receptor 4 | Czasami (5–29%) | W 1 chorobie |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Czasami (5–29%) | W 1 chorobie |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Czasami (5–29%) | W 1 chorobie |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 2 chorobach |
| GIGYF2GRB10 interacting GYF protein 2 | Czasami (5–29%) | W 2 chorobach |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Czasami (5–29%) | W 1 chorobie |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Czasami (5–29%) | W 1 chorobie |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Czasami (5–29%) | W 1 chorobie |
| LCA5lebercilin LCA5 | Czasami (5–29%) | W 1 chorobie |
| LRATlecithin retinol acyltransferase | Czasami (5–29%) | W 1 chorobie |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Czasami (5–29%) | W 1 chorobie |
| NIPA1NIPA magnesium transporter 1 | Czasami (5–29%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Czasami (5–29%) | W 1 chorobie |
| OPHN1oligophrenin 1 | Czasami (5–29%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| POU3F3POU class 3 homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| PRPH2peripherin 2 | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| RPE65retinoid isomerohydrolase RPE65 | Czasami (5–29%) | W 1 chorobie |
| RUBCNrubicon autophagy regulator | Czasami (5–29%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SPATA7spermatogenesis associated 7 | Czasami (5–29%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Czasami (5–29%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Czasami (5–29%) | W 1 chorobie |
| VPS35VPS35 retromer complex component | Czasami (5–29%) | W 2 chorobach |
| ADAT3adenosine deaminase tRNA specific 3 | Rzadko (1–4%) | W 1 chorobie |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Nie odnotowano | W 1 chorobie |
| APTXaprataxin | Nie odnotowano | W 1 chorobie |
| ATXN2ataxin 2 | Nie odnotowano | W 2 chorobach |
| ATXN3ataxin 3 | Nie odnotowano | W 2 chorobach |
| CSF1Rcolony stimulating factor 1 receptor | Nie odnotowano | W 1 chorobie |
| GARS1glycyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Nie odnotowano | W 1 chorobie |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nie odnotowano | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Nie odnotowano | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nie odnotowano | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Nie odnotowano | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Nie odnotowano | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Nie odnotowano | W 1 chorobie |
| RFC1replication factor C subunit 1 | Nie odnotowano | W 1 chorobie |
| SLC20A2solute carrier family 20 member 2 | Nie odnotowano | W 1 chorobie |
| SNCAIPsynuclein alpha interacting protein | Nie odnotowano | W 1 chorobie |
| TBPTATA-box binding protein | Nie odnotowano | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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