Požymis
Finger syndactyly
Webbing or fusion of the fingers, 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 in a proximo-distal axis are referred to as "Symphalangism".
Santrauka
- Taip pat vadinama
- Partial syndactyly
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 Finger syndactyly. 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 |
|---|---|---|
| FGFR2fibroblast growth factor receptor 2 | Visada | 8 ligose |
| MEGF8multiple EGF like domains 8 | Visada | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Visada | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Labai dažnai (80–99%) | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Labai dažnai (80–99%) | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Labai dažnai (80–99%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 2 ligose |
| FRAS1Fraser extracellular matrix complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Labai dažnai (80–99%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Labai dažnai (80–99%) | 2 ligose |
| GRIP1glutamate receptor interacting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LMBR1limb development membrane protein 1 | Labai dažnai (80–99%) | 2 ligose |
| LRP4LDL receptor related protein 4 | Labai dažnai (80–99%) | 2 ligose |
| MYH3myosin heavy chain 3 | Labai dažnai (80–99%) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Labai dažnai (80–99%) | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Labai dažnai (80–99%) | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOSTsclerostin | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| TP63tumor protein p63 | Labai dažnai (80–99%) | 3 ligose |
| TWIST1twist family bHLH transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Dažnai (30–79%) | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 1 ligoje |
| BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase | Dažnai (30–79%) | 1 ligoje |
| CDH1cadherin 1 | Dažnai (30–79%) | 1 ligoje |
| CDH3cadherin 3 | Dažnai (30–79%) | 1 ligoje |
| CTNND1catenin delta 1 | Dažnai (30–79%) | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Dažnai (30–79%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Dažnai (30–79%) | 2 ligose |
| DLX5distal-less homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| DLX6distal-less homeobox 6 | Dažnai (30–79%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 143 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| EFNB1ephrin B1 | Dažnai (30–79%) | 1 ligoje |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Dažnai (30–79%) | 1 ligoje |
| EPS15L1epidermal growth factor receptor pathway substrate 15 like 1 | Dažnai (30–79%) | 1 ligoje |
| FBXW4F-box and WD repeat domain containing 4 | Dažnai (30–79%) | 1 ligoje |
| FERMT1FERM domain containing kindlin 1 | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FLNBfilamin B | Dažnai (30–79%) | 2 ligose |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| IFT122intraflagellar transport 122 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT52intraflagellar transport 52 | Dažnai (30–79%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Dažnai (30–79%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NOGnoggin | Dažnai (30–79%) | 2 ligose |
| NOTCH1notch receptor 1 | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| SEM1SEM1 26S proteasome subunit | Dažnai (30–79%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 1 ligoje |
| TSHZ3teashirt zinc finger homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Dažnai (30–79%) | 1 ligoje |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| WNT10BWnt family member 10B | Dažnai (30–79%) | 2 ligose |
| ABCC9ATP binding cassette subfamily C member 9 | Kartais (5–29%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 1 ligoje |
| 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 |
| BBS4Bardet-Biedl syndrome 4 | Kartais (5–29%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Kartais (5–29%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Kartais (5–29%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Kartais (5–29%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Kartais (5–29%) | 2 ligose |
| 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 |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Kartais (5–29%) | 1 ligoje |
| CEP19centrosomal protein 19 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Kartais (5–29%) | 1 ligoje |
| CTNND2catenin delta 2 | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DLL3delta like canonical Notch ligand 3 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 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 |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GDF5growth differentiation factor 5 | Kartais (5–29%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Kartais (5–29%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| HOXA11homeobox A11 | Kartais (5–29%) | 1 ligoje |
| HOXD13homeobox D13 | Kartais (5–29%) | 3 ligose |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Kartais (5–29%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Kartais (5–29%) | 1 ligoje |
| KIFBPkinesin family binding protein | Kartais (5–29%) | 1 ligoje |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MECOMMDS1 and EVI1 complex locus | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 1 ligoje |
| MESP2mesoderm posterior bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 2 ligose |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 1 ligoje |
| PLXND1plexin D1 | Kartais (5–29%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Kartais (5–29%) | 2 ligose |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | 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 |
| SEMA5Asemaphorin 5A | Kartais (5–29%) | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Kartais (5–29%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Kartais (5–29%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| UBA2ubiquitin like modifier activating enzyme 2 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Kartais (5–29%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 1 ligoje |
| WNT7AWnt family member 7A | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | 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.
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