Egenskap
Balance impairment
Klinisk navn: 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.
Sammendrag
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Balance impairment forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 2 tilstander |
| ABCC9ATP binding cassette subfamily C member 9 | Alltid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Alltid | I 3 tilstander |
| COQ4coenzyme Q4 | Alltid | I 2 tilstander |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Alltid | I 3 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alltid | I 1 tilstand |
| FBXO7F-box protein 7 | Alltid | I 2 tilstander |
| LAMB1laminin subunit beta 1 | Alltid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Alltid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Alltid | I 6 tilstander |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Alltid | I 1 tilstand |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Alltid | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Svært ofte (80–99 %) | I 2 tilstander |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Svært ofte (80–99 %) | I 1 tilstand |
| PODXLpodocalyxin like | Svært ofte (80–99 %) | I 2 tilstander |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Svært ofte (80–99 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ofte (30–79 %) | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ofte (30–79 %) | I 3 tilstander |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 4 tilstander |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ofte (30–79 %) | I 1 tilstand |
Vis 70 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| LRRK2leucine rich repeat kinase 2 | Ofte (30–79 %) | I 3 tilstander |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Ofte (30–79 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstander |
| PMP22peripheral myelin protein 22 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Ofte (30–79 %) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 2 tilstander |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 4 tilstander |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofte (30–79 %) | I 2 tilstander |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 2 tilstander |
| ABCC6ATP binding cassette subfamily C member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CXCR4C-X-C motif chemokine receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GIGYF2GRB10 interacting GYF protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Noen ganger (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PRPH2peripherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Noen ganger (5–29 %) | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Noen ganger (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Noen ganger (5–29 %) | I 2 tilstander |
| ADAT3adenosine deaminase tRNA specific 3 | Sjelden (1–4%) | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registrert | I 2 tilstander |
| ATXN3ataxin 3 | Ikke registrert | I 2 tilstander |
| CSF1Rcolony stimulating factor 1 receptor | Ikke registrert | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ikke registrert | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ikke registrert | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ikke registrert | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Ikke registrert | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registrert | I 1 tilstand |
| RFC1replication factor C subunit 1 | Ikke registrert | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registrert | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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