Požymis
Spastic walk
Klinikinis pavadinimas: 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.
Santrauka
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 Spastic walk. 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 1 ligoje |
| ARG1arginase 1 | Visada | 1 ligoje |
| CCT5chaperonin containing TCP1 subunit 5 | Visada | 1 ligoje |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Visada | 1 ligoje |
| GJC2gap junction protein gamma 2 | Visada | 1 ligoje |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Visada | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| MAGmyelin associated glycoprotein | Visada | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Visada | 1 ligoje |
| NT5C25'-nucleotidase, cytosolic II | Visada | 2 ligose |
| REEP1receptor accessory protein 1 | Visada | 2 ligose |
| REEP2receptor accessory protein 2 | Visada | 3 ligose |
| RTN2reticulon 2 | Visada | 3 ligose |
| SACSsacsin molecular chaperone | Visada | 1 ligoje |
| SPARTspartin | Visada | 2 ligose |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 2 ligose |
| SPTSSAserine palmitoyltransferase small subunit A | Visada | 1 ligoje |
| TECPR2tectonin beta-propeller repeat containing 2 | Visada | 1 ligoje |
| TMEM63Ctransmembrane protein 63C | Visada | 1 ligoje |
| TUBA4Atubulin alpha 4a | Visada | 1 ligoje |
| VCPvalosin containing protein | Visada | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Labai dažnai (80–99%) | 4 ligose |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Labai dažnai (80–99%) | 3 ligose |
| CPT1Ccarnitine palmitoyltransferase 1C | Labai dažnai (80–99%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| KIF1Akinesin family member 1A | Labai dažnai (80–99%) | 2 ligose |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SLC33A1solute carrier family 33 member 1 | Labai dažnai (80–99%) | 2 ligose |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Labai dažnai (80–99%) | 3 ligose |
| ABCD1ATP binding cassette subfamily D member 1 | Dažnai (30–79%) | 1 ligoje |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 2 ligose |
| ARSIarylsulfatase family member I | Dažnai (30–79%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Dažnai (30–79%) | 1 ligoje |
| ATL1atlastin GTPase 1 | Dažnai (30–79%) | 2 ligose |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Dažnai (30–79%) | 2 ligose |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Dažnai (30–79%) | 2 ligose |
Rodyti dar 35 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Dažnai (30–79%) | 1 ligoje |
| DDHD1DDHD domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| DDHD2DDHD domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| DSTYKdual serine/threonine and tyrosine protein kinase | Dažnai (30–79%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Dažnai (30–79%) | 2 ligose |
| HSPD1heat shock protein family D (Hsp60) member 1 | Dažnai (30–79%) | 2 ligose |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Dažnai (30–79%) | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Dažnai (30–79%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Dažnai (30–79%) | 2 ligose |
| UBA5ubiquitin like modifier activating enzyme 5 | Dažnai (30–79%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Dažnai (30–79%) | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Dažnai (30–79%) | 2 ligose |
| WDR48WD repeat domain 48 | Dažnai (30–79%) | 1 ligoje |
| ZFRzinc finger RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Kartais (5–29%) | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Neužfiksuota | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Neužfiksuota | 1 ligoje |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Neužfiksuota | 1 ligoje |
| NIPA1NIPA magnesium transporter 1 | Neužfiksuota | 1 ligoje |
| SPASTspastin | Neužfiksuota | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Neužfiksuota | 1 ligoje |
| WDR26WD repeat domain 26 | Neužfiksuota | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | 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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Iš kur tai žinoma
- 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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