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Egenskap
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.
Sammendrag
- Også kalt
- Cranial suture synostosis, Craniosyostosis, Early fusion of cranial sutures, Premature closure of cranial sutures, Premature suture closure
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/craniosynostosis.json"
page <- fromJSON(url)
page$trait$nameDeformity of the skullHP:0001363
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Les genene knyttet til Deformity of the skull, og resten av genomet ditt, med én test.
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Få mitt Genome Test158 gener knyttet til Deformity of the skull
Endringer i disse genene forårsaker sjeldne tilstander der Deformity of the skull 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 |
|---|---|---|
| ALX4ALX homeobox 4 | Alltid | I 3 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Alltid | I 6 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 6 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 3 tilstander |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| MSX2msh homeobox 2 | Alltid | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Alltid | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Alltid | I 2 tilstander |
| TWIST1twist family bHLH transcription factor 1 | Alltid | I 3 tilstander |
| WDR35WD repeat domain 35 | Alltid | I 2 tilstander |
| ZIC1Zic family zinc finger 1 | Alltid | I 1 tilstand |
| ATRATR checkpoint kinase | Svært ofte (80–99 %) | I 1 tilstand |
| ATRIPATR interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Svært ofte (80–99 %) | I 2 tilstander |
| CENPEcentromere protein E | Svært ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Svært ofte (80–99 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Svært ofte (80–99 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Svært ofte (80–99 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EFNB1ephrin B1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| MEGF8multiple EGF like domains 8 | Svært ofte (80–99 %) | I 2 tilstander |
| NINninein | Svært ofte (80–99 %) | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Svært ofte (80–99 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Svært ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PCNTpericentrin | Svært ofte (80–99 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 118 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RAB23RAB23, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Svært 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 tilstander |
| DMP1dentin matrix acidic phosphoprotein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 2 tilstander |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| RECQL4RecQ like helicase 4 | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Noen ganger (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Noen ganger (5–29 %) | I 2 tilstander |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNAfilamin A | Noen ganger (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GPC6glypican 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 2 tilstander |
| KPTNkaptin, actin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| KRT14keratin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT5keratin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIAnuclear factor I A | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 2 tilstander |
| PHEXphosphate regulating endopeptidase X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Noen ganger (5–29 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 2 tilstander |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 2 tilstander |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Ikke registrert | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ikke registrert | I 1 tilstand |
| SMAD6SMAD family member 6 | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | 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
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 2026.10.17-8666dff2.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
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Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker