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Træk
Deformity of the skull
Klinisk navn: Craniosynostosis
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Resumé
- Også kaldet
- Cranial suture synostosis, Craniosyostosis, Early fusion of cranial sutures, Premature closure of cranial sutures, Premature suture closure
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/craniosynostosis.json"
page <- fromJSON(url)
page$trait$nameDeformity of the skullHP:0001363
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Læs de gener, der er knyttet til Deformity of the skull, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test158 gener knyttet til Deformity of the skull
Ændringer i disse gener forårsager sjældne tilstande, hvor Deformity of the skull ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALX4ALX homeobox 4 | Altid | I 3 tilstande |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Altid | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 6 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 6 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 3 tilstande |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| MSX2msh homeobox 2 | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Altid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Altid | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Altid | I 2 tilstande |
| TWIST1twist family bHLH transcription factor 1 | Altid | I 3 tilstande |
| WDR35WD repeat domain 35 | Altid | I 2 tilstande |
| ZIC1Zic family zinc finger 1 | Altid | I 1 tilstand |
| ATRATR checkpoint kinase | Meget ofte (80–99 %) | I 1 tilstand |
| ATRIPATR interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 2 tilstande |
| CENPEcentromere protein E | Meget ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Meget ofte (80–99 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Meget ofte (80–99 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EFNB1ephrin B1 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Meget ofte (80–99 %) | I 2 tilstande |
| NINninein | Meget ofte (80–99 %) | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Meget ofte (80–99 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Meget ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PCNTpericentrin | Meget ofte (80–99 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 118 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RAB23RAB23, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX10sorting nexin 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| CCNQcyclin Q | Ofte (30–79 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Ofte (30–79 %) | I 1 tilstand |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Ofte (30–79 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ofte (30–79 %) | I 2 tilstande |
| DMP1dentin matrix acidic phosphoprotein 1 | Ofte (30–79 %) | I 2 tilstande |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstande |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 2 tilstande |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstande |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstande |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 2 tilstande |
| RECQL4RecQ like helicase 4 | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstande |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 3 tilstande |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Nogle gange (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Nogle gange (5–29 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Nogle gange (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GPC6glypican 6 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Nogle gange (5–29 %) | I 2 tilstande |
| KPTNkaptin, actin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIAnuclear factor I A | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 2 tilstande |
| PHEXphosphate regulating endopeptidase X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nogle gange (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 2 tilstande |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjældent (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registreret | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Ikke registreret | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ikke registreret | I 1 tilstand |
| SMAD6SMAD family member 6 | Ikke registreret | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger