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Tunnus
Broad big toe
Kliiniline nimetus: Broad hallux
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Kokkuvõte
- Teised nimetused
- Wide big toe, Abnormally broad great toes, Broad great toe, Broad great toes, Broad halluces
Broad big toeHP:0010055
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Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Broad big toe, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test87 geeni on seotud tunnusega Broad big toe
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Broad big toe. 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 |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alati | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Alati | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alati | Esineb 2 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Alati | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Alati | Esineb 4 haiguses |
| GLI3GLI family zinc finger 3 | Alati | Esineb 2 haiguses |
| HOXA13homeobox A13 | Alati | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Alati | Esineb 1 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Alati | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Alati | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Alati | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Alati | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Alati | Esineb 1 haiguses |
| NXNnucleoredoxin | Alati | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Alati | Esineb 1 haiguses |
| SLC13A1solute carrier family 13 member 1 | Alati | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Alati | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Alati | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Väga sageli (80–99%) | Esineb 4 haiguses |
| DVL1dishevelled segment polarity protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Väga sageli (80–99%) | Esineb 3 haiguses |
| NOGnoggin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASPHaspartate beta-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| CHST11carbohydrate sulfotransferase 11 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sageli (30–79%) | Esineb 1 haiguses |
| LBRlamin B receptor | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Sageli (30–79%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sageli (30–79%) | Esineb 2 haiguses |
| ROR2ROR family WNT receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 47 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SCNM1sodium channel modifier 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SIAH1siah E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF6TATA-box binding protein associated factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACHD1cache domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSNK2A1casein kinase 2 alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOAras homolog family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A11solute carrier family 6 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ACANaggrecan | Harva (1–4%) | Esineb 1 haiguses |
| FGF9fibroblast growth factor 9 | Harva (1–4%) | 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 |
| MARK2microtubule affinity regulating kinase 2 | Harva (1–4%) | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Pole registreeritud | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Pole registreeritud | Esineb 1 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Pole registreeritud | Esineb 1 haiguses |
| DLX5distal-less homeobox 5 | Pole registreeritud | Esineb 1 haiguses |
| EFNB1ephrin B1 | Pole registreeritud | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Pole registreeritud | Esineb 2 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 3 haiguses |
| GATA6GATA binding protein 6 | Pole registreeritud | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Pole registreeritud | Esineb 1 haiguses |
| HOXD13homeobox D13 | Pole registreeritud | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Pole registreeritud | Esineb 1 haiguses |
| MEIS2Meis homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Pole registreeritud | Esineb 1 haiguses |
| NKX2-6NK2 homeobox 6 | Pole registreeritud | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Pole registreeritud | Esineb 1 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast