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Tunnus
Talipes
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Kokkuvõte
- Kehasüsteem
- Abnormality of limbs
TalipesHP:0001883
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Read the genes linked to Talipes, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test101 geeni on seotud tunnusega Talipes
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Talipes. 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 |
|---|---|---|
| DAGLAdiacylglycerol lipase alpha | Alati | Esineb 1 haiguses |
| FLNBfilamin B | Alati | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CD96CD96 molecule | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL1A2collagen type I alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 2 haiguses |
| DLL4delta like canonical Notch ligand 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DMPKDM1 protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Sageli (30–79%) | Esineb 1 haiguses |
| DSTdystonin | Sageli (30–79%) | Esineb 1 haiguses |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sageli (30–79%) | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| FLVCR2FLVCR choline and putative heme transporter 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Sageli (30–79%) | Esineb 1 haiguses |
| JPH1junctophilin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| KYNUkynureninase | Sageli (30–79%) | Esineb 1 haiguses |
| LBRlamin B receptor | Sageli (30–79%) | Esineb 1 haiguses |
| LMBR1limb development membrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MYBPC1myosin binding protein C1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH1notch receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 1 haiguses |
| SC5Dsterol-C5-desaturase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 61 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SNAPINSNAP associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| TNNI2troponin I2, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TXNDC15thioredoxin domain containing 15 | Sageli (30–79%) | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR2DiGeorge syndrome critical region gene 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR6DiGeorge syndrome critical region gene 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR8DGCR8 microprocessor complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ESS2ess-2 spliceosome associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXT1exostosin glycosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 2 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Mõnikord (5–29%) | Esineb 2 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 2 haiguses |
| SMC3structural maintenance of chromosomes 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Harva (1–4%) | Esineb 1 haiguses |
| ATRATR checkpoint kinase | Pole registreeritud | Esineb 1 haiguses |
| DOK7docking protein 7 | Pole registreeritud | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| NEBnebulin | 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.
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Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast