Tunnus
Spastic walk
Kliiniline nimetus: Spastic gait
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Kokkuvõte
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Spastic walk, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test75 geeni on seotud tunnusega Spastic walk
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Spastic walk. 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 1 haiguses |
| ARG1arginase 1 | Alati | Esineb 1 haiguses |
| CCT5chaperonin containing TCP1 subunit 5 | Alati | Esineb 1 haiguses |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Alati | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Alati | Esineb 1 haiguses |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alati | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Alati | Esineb 1 haiguses |
| KIF5Akinesin family member 5A | Alati | Esineb 1 haiguses |
| MAGmyelin associated glycoprotein | Alati | Esineb 1 haiguses |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Alati | Esineb 1 haiguses |
| NT5C25'-nucleotidase, cytosolic II | Alati | Esineb 2 haiguses |
| REEP1receptor accessory protein 1 | Alati | Esineb 2 haiguses |
| REEP2receptor accessory protein 2 | Alati | Esineb 3 haiguses |
| RTN2reticulon 2 | Alati | Esineb 3 haiguses |
| SACSsacsin molecular chaperone | Alati | Esineb 1 haiguses |
| SPARTspartin | Alati | Esineb 2 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 2 haiguses |
| SPTSSAserine palmitoyltransferase small subunit A | Alati | Esineb 1 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Alati | Esineb 1 haiguses |
| TMEM63Ctransmembrane protein 63C | Alati | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Alati | Esineb 1 haiguses |
| VCPvalosin containing protein | Alati | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CPT1Ccarnitine palmitoyltransferase 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KIF1Akinesin family member 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLP1proteolipid protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC33A1solute carrier family 33 member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Väga sageli (80–99%) | Esineb 3 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ARSIarylsulfatase family member I | Sageli (30–79%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Sageli (30–79%) | Esineb 1 haiguses |
| ATL1atlastin GTPase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sageli (30–79%) | Esineb 2 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 35 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDHD1DDHD domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDHD2DDHD domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DSTYKdual serine/threonine and tyrosine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| RAB3ARAB3A, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| SHMT2serine hydroxymethyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A15solute carrier family 25 member 15 | Sageli (30–79%) | Esineb 2 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Sageli (30–79%) | Esineb 1 haiguses |
| UBAP1ubiquitin associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| USP8ubiquitin specific peptidase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| VAMP1vesicle associated membrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Sageli (30–79%) | Esineb 2 haiguses |
| WDR48WD repeat domain 48 | Sageli (30–79%) | Esineb 1 haiguses |
| ZFRzinc finger RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KPNA3karyopherin subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLAAT3phospholipase A and acyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| WLSWnt ligand secretion mediator | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| GBA2glucosylceramidase beta 2 | Pole registreeritud | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Pole registreeritud | Esineb 1 haiguses |
| NIPA1NIPA magnesium transporter 1 | Pole registreeritud | Esineb 1 haiguses |
| SPASTspastin | Pole registreeritud | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Pole registreeritud | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Pole registreeritud | Esineb 1 haiguses |
| ZFYVE26zinc finger FYVE-type containing 26 | 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.
Kitsamad tunnused
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