Egenskap
Fused toes
Klinisk navn: 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".
Sammendrag
- Også kalt
- Webbed toes, Foot syndactyly, Syndactyly of feet, Syndactyly of toes
ReferansegenomGRCh38hg38
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Få mitt Genome Test137 gener knyttet til Fused toes
Endringer i disse genene forårsaker sjeldne tilstander der Fused toes forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CCNQcyclin Q | Alltid | I 2 tilstander |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 1 tilstand |
| EN1engrailed homeobox 1 | Alltid | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Alltid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Alltid | I 2 tilstander |
| SCNM1sodium channel modifier 1 | Alltid | I 1 tilstand |
| BHLHA9basic helix-loop-helix family member a9 | Svært ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 8 tilstander |
| GJA1gap junction protein alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 2 tilstander |
| HOXD13homeobox D13 | Svært ofte (80–99 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 2 tilstander |
| SMOC1SPARC related modular calcium binding 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBR1T-box brain transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TP63tumor protein p63 | Svært ofte (80–99 %) | I 5 tilstander |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 3 tilstander |
| GPC3glypican 3 | Ofte (30–79 %) | I 1 tilstand |
Vis 97 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MIR17HGmiR-17-92a-1 cluster host gene | Ofte (30–79 %) | I 1 tilstand |
| NOGnoggin | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 2 tilstander |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| WNT7AWnt family member 7A | Ofte (30–79 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BMS1BMS1 ribosome biogenesis factor | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD96CD96 molecule | Noen ganger (5–29 %) | I 2 tilstander |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Noen ganger (5–29 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PLECplectin | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| TBX22T-box transcription factor 22 | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Noen ganger (5–29 %) | I 1 tilstand |
| TTC21Btetratricopeptide repeat domain 21B | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| UBA2ubiquitin like modifier activating enzyme 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registrert | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 2 tilstander |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registrert | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registrert | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ikke registrert | I 1 tilstand |
| TCTN3tectonic family member 3 | Ikke registrert | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ikke registrert | I 1 tilstand |
| WNT10BWnt family member 10B | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
- Webbed 2nd and 3rd toes97 gener
- Webbed 4th-5th toes14 gener
- Webbed skin of toes12 gener
- Webbed 3rd-4th toes7 gener
- Webbed 2nd-4th toes5 gener
- Webbed 2nd-5th toes4 gener
- Webbed first and second toes4 gener
- Webbed 1st-3rd toes1 gen
- Webbed 1st-5th toes1 gen
- Webbed 3rd-5th toes1 gen
- Webbed first through fourth toes1 gen
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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