Egenskap
Webbed fingers or toes
Klinisk navn: 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".
Sammendrag
ReferansegenomGRCh38hg38
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Få mitt Genome Test159 gener knyttet til Webbed fingers or toes
Endringer i disse genene forårsaker sjeldne tilstander der Webbed fingers or 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 |
|---|---|---|
| BBS9Bardet-Biedl syndrome 9 | Alltid | I 2 tilstander |
| BCORBCL6 corepressor | Alltid | I 1 tilstand |
| BHLHA9basic helix-loop-helix family member a9 | Alltid | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 2 tilstander |
| EP300EP300 lysine acetyltransferase | Alltid | I 3 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 3 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Alltid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alltid | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Alltid | I 2 tilstander |
| RIPK4receptor interacting serine/threonine kinase 4 | Alltid | I 1 tilstand |
| SOSTsclerostin | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| WDR35WD repeat domain 35 | Alltid | I 2 tilstander |
| LRP4LDL receptor related protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Svært ofte (80–99 %) | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 2 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ofte (30–79 %) | I 1 tilstand |
| DLX5distal-less homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| DSPdesmoplakin | Ofte (30–79 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 2 tilstander |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 4 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 4 tilstander |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 3 tilstander |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
Vis 119 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstander |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Ofte (30–79 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Ofte (30–79 %) | I 2 tilstander |
| ZNF699zinc finger protein 699 | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 2 tilstander |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 2 tilstander |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 1 tilstand |
| CDAN1codanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | 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 |
| FILIP1filamin A interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 3 tilstander |
| MKRN3makorin ring finger protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NBASNBAS subunit of NRZ tethering complex | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Noen ganger (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SBF1SET binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX5T-box transcription factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Noen ganger (5–29 %) | I 4 tilstander |
| TRA2Btransformer 2 beta homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjelden (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| BLMBLM RecQ like helicase | Ikke registrert | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ikke registrert | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Ikke registrert | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registrert | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ikke registrert | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ikke registrert | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 2 tilstander |
| HOXA11homeobox A11 | Ikke registrert | I 1 tilstand |
| HOXD13homeobox D13 | Ikke registrert | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registrert | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Ikke registrert | I 1 tilstand |
| LMNAlamin A/C | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registrert | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ikke registrert | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ikke registrert | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ikke registrert | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registrert | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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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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