Tunnus
Duplication of bones of the toes
Kliiniline nimetus: Foot polydactyly
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Kokkuvõte
- Teised nimetused
- Polydactyly of feet, Polydactyly of the foot
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/foot-polydactyly.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Duplication of bones of the toes-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test34 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Joubert Syndrome And Related DisordersReads 34 of these genesOFD1AHI1ARL13BARL3ARMC9B9D1About this report →
- Meckel SyndromeReads 6 of these genesB9D1B9D2MKS1TCTN2TMEM231TMEM67About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 12 of these genesAHI1CC2D2ACEP290CEP41CSPP1KIAA0586About this report →
- Bardet-Biedl and Alström SyndromesReads 5 of these genesCEP290IFT74MKS1ARL6BBS1About this report →
Show 30 more reports
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesEVCEVC2About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesSUFUAbout this report →
- Inherited Neurodegenerative DisordersReads 13 of these genesAHI1CC2D2ACEP290CEP41CSPP1KIAA0586About this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 1 of these genesHEPACAMAbout this report →
- Retinitis PigmentosaReads 5 of these genesOFD1ARL3CC2D2ATOPORSARL6About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesTMEM67ZNF423About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesSMOSKIAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesSHHSMOAbout this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Marfan Like SyndromesReads 1 of these genesSKIAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Inherited IchthyosesReads 1 of these genesABCA12About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesSHHAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGP1BBAbout this report →
- Dilated CardiomyopathyReads 1 of these genesPRDM16About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesHEPACAMAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesTBX1About this report →
- Intellectual DisabilityReads 1 of these genesJMJD1CAbout this report →
Lugege välja geenid, mis on seotud Duplication of bones of the toes-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test78 geeni on seotud tunnusega Duplication of bones of the toes
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Duplication of bones of the toes. 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 |
|---|---|---|
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLI1GLI family zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMBR1limb development membrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 3 haiguses |
| SHHsonic hedgehog signaling molecule | Sageli (30–79%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Sageli (30–79%) | Esineb 1 haiguses |
| ABCA12ATP binding cassette subfamily A member 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARL13BARF like GTPase 13B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARMC9armadillo repeat containing 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBY1chibby 1, beta catenin antagonist | Mõnikord (5–29%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP104centrosomal protein 104 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CEP290centrosomal protein 290 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP41centrosomal protein 41 | Mõnikord (5–29%) | Esineb 2 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM149B1family with sequence similarity 149 member B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Mõnikord (5–29%) | Esineb 2 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KATNIPkatanin interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 38 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| KIAA0586KIAA0586 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE6Dphosphodiesterase 6D | Mõnikord (5–29%) | Esineb 2 haiguses |
| PDPNpodoplanin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIBF1progesterone immunomodulatory binding factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 3 haiguses |
| TMEM138transmembrane protein 138 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM218transmembrane protein 218 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM237transmembrane protein 237 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM67transmembrane protein 67 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF423zinc finger protein 423 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEPACAMhepatic and glial cell adhesion molecule | Harva (1–4%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Harva (1–4%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Pole registreeritud | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Pole registreeritud | Esineb 1 haiguses |
| CCDC28Bcoiled-coil domain containing 28B | Pole registreeritud | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | 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 2026.10.19-9814e911.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
