Požymis
Fused toes
Klinikinis pavadinimas: Toe syndactyly
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Santrauka
- Taip pat vadinama
- Webbed toes, Foot syndactyly, Syndactyly of feet, Syndactyly of toes
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Fused toes. 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 |
|---|---|---|
| CCNQcyclin Q | Visada | 2 ligose |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| EN1engrailed homeobox 1 | Visada | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Visada | 1 ligoje |
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| POLR3GLRNA polymerase III subunit GL | Visada | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Visada | 2 ligose |
| SCNM1sodium channel modifier 1 | Visada | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Labai dažnai (80–99%) | 1 ligoje |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 8 ligose |
| GJA1gap junction protein alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 2 ligose |
| HOXD13homeobox D13 | Labai dažnai (80–99%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| LMBR1limb development membrane protein 1 | Labai dažnai (80–99%) | 2 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Labai dažnai (80–99%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 2 ligose |
| SMOC1SPARC related modular calcium binding 1 | Labai dažnai (80–99%) | 2 ligose |
| TBR1T-box brain transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TP63tumor protein p63 | Labai dažnai (80–99%) | 5 ligose |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Dažnai (30–79%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 3 ligose |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 97 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Dažnai (30–79%) | 1 ligoje |
| MIR17HGmiR-17-92a-1 cluster host gene | Dažnai (30–79%) | 1 ligoje |
| NOGnoggin | Dažnai (30–79%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Dažnai (30–79%) | 2 ligose |
| TSHZ3teashirt zinc finger homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Dažnai (30–79%) | 1 ligoje |
| WNT7AWnt family member 7A | Dažnai (30–79%) | 1 ligoje |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| BMS1BMS1 ribosome biogenesis factor | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| CD96CD96 molecule | Kartais (5–29%) | 2 ligose |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Kartais (5–29%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Kartais (5–29%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Kartais (5–29%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 1 ligoje |
| RPL10ribosomal protein L10 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| TBX22T-box transcription factor 22 | Kartais (5–29%) | 1 ligoje |
| TFAP2Btranscription factor AP-2 beta | Kartais (5–29%) | 1 ligoje |
| TTC21Btetratricopeptide repeat domain 21B | Kartais (5–29%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Kartais (5–29%) | 2 ligose |
| UBA2ubiquitin like modifier activating enzyme 2 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| WDR19WD repeat domain 19 | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Neužfiksuota | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| EFNB1ephrin B1 | Neužfiksuota | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 2 ligose |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| PORCNporcupine O-acyltransferase | Neužfiksuota | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Neužfiksuota | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Neužfiksuota | 1 ligoje |
| TCTN3tectonic family member 3 | Neužfiksuota | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Neužfiksuota | 1 ligoje |
| WNT10BWnt family member 10B | 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.
Siauresni požymiai
- Webbed 2nd and 3rd toes97 genų
- Webbed 4th-5th toes14 genų
- Webbed skin of toes12 genų
- Webbed 3rd-4th toes7 genų
- Webbed 2nd-4th toes5 genų
- Webbed 2nd-5th toes4 genų
- Webbed first and second toes4 genų
- Webbed 1st-3rd toes1 genas
- Webbed 1st-5th toes1 genas
- Webbed 3rd-5th toes1 genas
- Webbed first through fourth toes1 genas
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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