Požymis
Toe walking
Klinikinis pavadinimas: Tip-toe gait
An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Santrauka
- Taip pat vadinama
- Walking on tiptoes, Tiptoe gait
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test97 genų susiję su Toe walking
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Toe walking. 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 |
|---|---|---|
| COASYCoenzyme A synthase | Visada | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Visada | 1 ligoje |
| DMDdystrophin | Visada | 2 ligose |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Visada | 1 ligoje |
| MYH7myosin heavy chain 7 | Visada | 1 ligoje |
| NT5C25'-nucleotidase, cytosolic II | Visada | 1 ligoje |
| PNPLA8patatin like domain 8, phospholipase A2 | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| ADSS1adenylosuccinate synthase 1 | Dažnai (30–79%) | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Dažnai (30–79%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Dažnai (30–79%) | 2 ligose |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| ARSAarylsulfatase A | Dažnai (30–79%) | 1 ligoje |
| BAG3BAG cochaperone 3 | Dažnai (30–79%) | 1 ligoje |
| CAPN3calpain 3 | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Dažnai (30–79%) | 2 ligose |
| DEAF1DEAF1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| EMDemerin | Dažnai (30–79%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Dažnai (30–79%) | 3 ligose |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 3 ligose |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| GJB1gap junction protein beta 1 | Dažnai (30–79%) | 1 ligoje |
| KYkyphoscoliosis peptidase | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 2 ligose |
| PANK2pantothenate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| PSAPprosaposin | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| REEP2receptor accessory protein 2 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 57 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SGCAsarcoglycan alpha | Dažnai (30–79%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Dažnai (30–79%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 2 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 2 ligose |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Kartais (5–29%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kartais (5–29%) | 1 ligoje |
| ATL1atlastin GTPase 1 | Kartais (5–29%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| DDHD2DDHD domain containing 2 | Kartais (5–29%) | 1 ligoje |
| DYSFdysferlin | Kartais (5–29%) | 3 ligose |
| FBN1fibrillin 1 | Kartais (5–29%) | 2 ligose |
| FUSFUS RNA binding protein | Kartais (5–29%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Kartais (5–29%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SBF2SET binding factor 2 | Kartais (5–29%) | 1 ligoje |
| SGCGsarcoglycan gamma | Kartais (5–29%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Kartais (5–29%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kartais (5–29%) | 2 ligose |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 2 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Neužfiksuota | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Neužfiksuota | 1 ligoje |
| INPP5Kinositol polyphosphate-5-phosphatase K | Neužfiksuota | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| TLK2tousled like kinase 2 | 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.
Platesni požymiai
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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