Kenmerk
Fused toes
Klinische naam: 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".
Samenvatting
- Ook bekend als
- Webbed toes, Foot syndactyly, Syndactyly of feet, Syndactyly of toes
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Mijn Genome Test bestellen137 genen gekoppeld aan Fused toes
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Fused toes voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CCNQcyclin Q | Altijd | In 2 aandoeningen |
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 1 aandoening |
| EN1engrailed homeobox 1 | Altijd | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Altijd | In 1 aandoening |
| MRPS28mitochondrial ribosomal protein S28 | Altijd | In 1 aandoening |
| POLR3GLRNA polymerase III subunit GL | Altijd | In 1 aandoening |
| PUM1pumilio RNA binding family member 1 | Altijd | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Altijd | In 2 aandoeningen |
| SCNM1sodium channel modifier 1 | Altijd | In 1 aandoening |
| BHLHA9basic helix-loop-helix family member a9 | Heel vaak (80–99%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 8 aandoeningen |
| GJA1gap junction protein alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| HOXD13homeobox D13 | Heel vaak (80–99%) | In 1 aandoening |
| IRF6interferon regulatory factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| LMBR1limb development membrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Heel vaak (80–99%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Heel vaak (80–99%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Heel vaak (80–99%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Heel vaak (80–99%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMOC1SPARC related modular calcium binding 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBR1T-box brain transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TP63tumor protein p63 | Heel vaak (80–99%) | In 5 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FRAS1Fraser extracellular matrix complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Vaak (30–79%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Vaak (30–79%) | In 3 aandoeningen |
| GPC3glypican 3 | Vaak (30–79%) | In 1 aandoening |
Toon nog 97 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GPC4glypican 4 | Vaak (30–79%) | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 1 aandoening |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Vaak (30–79%) | In 1 aandoening |
| MIR17HGmiR-17-92a-1 cluster host gene | Vaak (30–79%) | In 1 aandoening |
| NOGnoggin | Vaak (30–79%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Vaak (30–79%) | In 1 aandoening |
| PSAT1phosphoserine aminotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| SC5Dsterol-C5-desaturase | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Vaak (30–79%) | In 2 aandoeningen |
| TSHZ3teashirt zinc finger homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| WLSWnt ligand secretion mediator | Vaak (30–79%) | In 1 aandoening |
| WNT7AWnt family member 7A | Vaak (30–79%) | In 1 aandoening |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Soms (5–29%) | In 1 aandoening |
| BCRBCR activator of RhoGEF and GTPase | Soms (5–29%) | In 1 aandoening |
| BMS1BMS1 ribosome biogenesis factor | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CD96CD96 molecule | Soms (5–29%) | In 2 aandoeningen |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 1 aandoening |
| CRKLCRK like proto-oncogene, adaptor protein | Soms (5–29%) | In 1 aandoening |
| CUL4Bcullin 4B | Soms (5–29%) | In 1 aandoening |
| DACT1dishevelled binding antagonist of beta catenin 1 | Soms (5–29%) | In 1 aandoening |
| DLL4delta like canonical Notch ligand 4 | Soms (5–29%) | In 1 aandoening |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Soms (5–29%) | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Soms (5–29%) | In 1 aandoening |
| DYNC2I2dynein 2 intermediate chain 2 | Soms (5–29%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT80intraflagellar transport 80 | Soms (5–29%) | In 1 aandoening |
| ITGB4integrin subunit beta 4 | Soms (5–29%) | In 1 aandoening |
| KIAA0753KIAA0753 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MEF2Cmyocyte enhancer factor 2C | Soms (5–29%) | In 1 aandoening |
| NEK9NIMA related kinase 9 | Soms (5–29%) | In 1 aandoening |
| NXNnucleoredoxin | Soms (5–29%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PLECplectin | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Soms (5–29%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Soms (5–29%) | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| TBX22T-box transcription factor 22 | Soms (5–29%) | In 1 aandoening |
| TFAP2Btranscription factor AP-2 beta | Soms (5–29%) | In 1 aandoening |
| TTC21Btetratricopeptide repeat domain 21B | Soms (5–29%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Soms (5–29%) | In 2 aandoeningen |
| UBA2ubiquitin like modifier activating enzyme 2 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Zelden (1–4%) | In 1 aandoening |
| ARHGAP31Rho GTPase activating protein 31 | Niet vastgelegd | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| EFNB1ephrin B1 | Niet vastgelegd | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Niet vastgelegd | In 1 aandoening |
| FLNAfilamin A | Niet vastgelegd | In 2 aandoeningen |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Niet vastgelegd | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Niet vastgelegd | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Niet vastgelegd | In 1 aandoening |
| TCTN3tectonic family member 3 | Niet vastgelegd | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| WNT10BWnt family member 10B | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
- Webbed 2nd and 3rd toes97 genen
- Webbed 4th-5th toes14 genen
- Webbed skin of toes12 genen
- Webbed 3rd-4th toes7 genen
- Webbed 2nd-4th toes5 genen
- Webbed 2nd-5th toes4 genen
- Webbed first and second toes4 genen
- Webbed 1st-3rd toes1 gen
- Webbed 1st-5th toes1 gen
- Webbed 3rd-5th toes1 gen
- Webbed first through fourth toes1 gen
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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