Požymis
Webbed fingers or toes
Klinikinis pavadinimas: Syndactyly
Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Santrauka
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Webbed fingers or toes, and the rest of your genome, with one test.
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Įsigyti savo Genome Test159 genų susiję su Webbed fingers or toes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Webbed fingers or 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 |
|---|---|---|
| BBS9Bardet-Biedl syndrome 9 | Visada | 2 ligose |
| BCORBCL6 corepressor | Visada | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Visada | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Visada | 2 ligose |
| EP300EP300 lysine acetyltransferase | Visada | 3 ligose |
| ERI1exoribonuclease 1 | Visada | 2 ligose |
| FLNAfilamin A | Visada | 3 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| IRX5iroquois homeobox 5 | Visada | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Visada | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Visada | 2 ligose |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| SOSTsclerostin | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| WDR35WD repeat domain 35 | Visada | 2 ligose |
| LRP4LDL receptor related protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Labai dažnai (80–99%) | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 2 ligose |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Dažnai (30–79%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Dažnai (30–79%) | 1 ligoje |
| DLX5distal-less homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| DSPdesmoplakin | Dažnai (30–79%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Dažnai (30–79%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Dažnai (30–79%) | 2 ligose |
| FBLN1fibulin 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 4 ligose |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 4 ligose |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Dažnai (30–79%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Dažnai (30–79%) | 3 ligose |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 119 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| MAPKAPK5MAPK activated protein kinase 5 | Dažnai (30–79%) | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Dažnai (30–79%) | 1 ligoje |
| NOTCH1notch receptor 1 | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 2 ligose |
| PDE6Dphosphodiesterase 6D | Dažnai (30–79%) | 1 ligoje |
| PLAG1PLAG1 zinc finger | Dažnai (30–79%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| YY1AP1YY1 associated protein 1 | Dažnai (30–79%) | 2 ligose |
| ZNF699zinc finger protein 699 | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 2 ligose |
| BBIP1BBSome interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 2 ligose |
| BBS10Bardet-Biedl syndrome 10 | Kartais (5–29%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Kartais (5–29%) | 2 ligose |
| BBS7Bardet-Biedl syndrome 7 | Kartais (5–29%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kartais (5–29%) | 1 ligoje |
| CDAN1codanin 1 | Kartais (5–29%) | 1 ligoje |
| CDIN1CDAN1 interacting nuclease 1 | Kartais (5–29%) | 1 ligoje |
| CEP19centrosomal protein 19 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CEP295centrosomal protein 295 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Kartais (5–29%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 3 ligose |
| MKRN3makorin ring finger protein 3 | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 2 ligose |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 2 ligose |
| NBASNBAS subunit of NRZ tethering complex | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| PHF21APHD finger protein 21A | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Kartais (5–29%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Kartais (5–29%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 2 ligose |
| SBF1SET binding factor 1 | Kartais (5–29%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Kartais (5–29%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Kartais (5–29%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Kartais (5–29%) | 1 ligoje |
| SEPTIN9septin 9 | Kartais (5–29%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Kartais (5–29%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Kartais (5–29%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Kartais (5–29%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Kartais (5–29%) | 1 ligoje |
| TP63tumor protein p63 | Kartais (5–29%) | 4 ligose |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| TXNDC15thioredoxin domain containing 15 | Kartais (5–29%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Retai (1–4 %) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 1 ligoje |
| LEMD3LEM domain containing 3 | Retai (1–4 %) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Retai (1–4 %) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Retai (1–4 %) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| BLMBLM RecQ like helicase | Neužfiksuota | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Neužfiksuota | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Neužfiksuota | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Neužfiksuota | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Neužfiksuota | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Neužfiksuota | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Neužfiksuota | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Neužfiksuota | 2 ligose |
| HOXA11homeobox A11 | Neužfiksuota | 1 ligoje |
| HOXD13homeobox D13 | Neužfiksuota | 1 ligoje |
| IFT81intraflagellar transport 81 | Neužfiksuota | 1 ligoje |
| LMBR1limb development membrane protein 1 | Neužfiksuota | 1 ligoje |
| LMNAlamin A/C | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Neužfiksuota | 1 ligoje |
| SALL4spalt like transcription factor 4 | Neužfiksuota | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Neužfiksuota | 1 ligoje |
| WASHC5WASH complex subunit 5 | Neužfiksuota | 1 ligoje |
| WNT7AWnt family member 7A | Neužfiksuota | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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- 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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