Tunnus
Toe walking
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Walking on tiptoes, Tiptoe gait
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Toe walking, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test97 geeni on seotud tunnusega Toe walking
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Toe walking. 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 |
|---|---|---|
| COASYCoenzyme A synthase | Alati | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Alati | Esineb 1 haiguses |
| DMDdystrophin | Alati | Esineb 2 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Alati | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Alati | Esineb 1 haiguses |
| NT5C25'-nucleotidase, cytosolic II | Alati | Esineb 1 haiguses |
| PNPLA8patatin like domain 8, phospholipase A2 | Alati | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| RTN2reticulon 2 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| ADSS1adenylosuccinate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Sageli (30–79%) | Esineb 2 haiguses |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARSAarylsulfatase A | Sageli (30–79%) | Esineb 1 haiguses |
| BAG3BAG cochaperone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CAPN3calpain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Sageli (30–79%) | Esineb 1 haiguses |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DEAF1DEAF1 transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| EMDemerin | Sageli (30–79%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Sageli (30–79%) | Esineb 3 haiguses |
| FHL1four and a half LIM domains 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Sageli (30–79%) | Esineb 3 haiguses |
| FKTNfukutin | Sageli (30–79%) | Esineb 1 haiguses |
| GJB1gap junction protein beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KYkyphoscoliosis peptidase | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 2 haiguses |
| PANK2pantothenate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAT3phospholipase A and acyltransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PSAPprosaposin | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| REEP2receptor accessory protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 57 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SGCAsarcoglycan alpha | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Sageli (30–79%) | Esineb 1 haiguses |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM43transmembrane protein 43 | Sageli (30–79%) | Esineb 1 haiguses |
| AASSaminoadipate-semialdehyde synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATL1atlastin GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDHD2DDHD domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYSFdysferlin | Mõnikord (5–29%) | Esineb 3 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FUSFUS RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SBF2SET binding factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SORDsorbitol dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNNT1troponin T1, slow skeletal type | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT2BtRNA methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Pole registreeritud | Esineb 1 haiguses |
| INPP5Kinositol polyphosphate-5-phosphatase K | Pole registreeritud | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Pole registreeritud | Esineb 1 haiguses |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Pole registreeritud | Esineb 1 haiguses |
| TLK2tousled like kinase 2 | 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.
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