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Kenmerk
Deformity of the skull
Klinische naam: 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.
Samenvatting
- Ook bekend als
- Cranial suture synostosis, Craniosyostosis, Early fusion of cranial sutures, Premature closure of cranial sutures, Premature suture closure
Deformity of the skullHP:0001363
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Mijn Genome Test bestellen158 genen gekoppeld aan Deformity of the skull
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Deformity of the skull voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALX4ALX homeobox 4 | Altijd | In 3 aandoeningen |
| CEP57centrosomal protein 57 | Altijd | In 1 aandoening |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Altijd | In 6 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 6 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 3 aandoeningen |
| GON4Lgon-4 like | Altijd | In 1 aandoening |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 1 aandoening |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
| MSX2msh homeobox 2 | Altijd | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Altijd | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Altijd | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Altijd | In 2 aandoeningen |
| TWIST1twist family bHLH transcription factor 1 | Altijd | In 3 aandoeningen |
| WDR35WD repeat domain 35 | Altijd | In 2 aandoeningen |
| ZIC1Zic family zinc finger 1 | Altijd | In 1 aandoening |
| ATRATR checkpoint kinase | Heel vaak (80–99%) | In 1 aandoening |
| ATRIPATR interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 2 aandoeningen |
| CENPEcentromere protein E | Heel vaak (80–99%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Heel vaak (80–99%) | In 1 aandoening |
| CEP295centrosomal protein 295 | Heel vaak (80–99%) | In 1 aandoening |
| CEP63centrosomal protein 63 | Heel vaak (80–99%) | In 1 aandoening |
| CLCN7Cl-/H+ antiporter 7 | Heel vaak (80–99%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Heel vaak (80–99%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Heel vaak (80–99%) | In 1 aandoening |
| EFNB1ephrin B1 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| MEGF8multiple EGF like domains 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| NINninein | Heel vaak (80–99%) | In 1 aandoening |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Heel vaak (80–99%) | In 1 aandoening |
| NUP85nucleoporin 85 | Heel vaak (80–99%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PCNTpericentrin | Heel vaak (80–99%) | In 1 aandoening |
| PLK4polo like kinase 4 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 118 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| RAB23RAB23, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RBBP8RB binding protein 8, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNX10sorting nexin 10 | Heel vaak (80–99%) | In 1 aandoening |
| TNFSF11TNF superfamily member 11 | Heel vaak (80–99%) | In 1 aandoening |
| TRAIPTRAF interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Vaak (30–79%) | In 1 aandoening |
| CCNQcyclin Q | Vaak (30–79%) | In 1 aandoening |
| CDC6cell division cycle 6 | Vaak (30–79%) | In 1 aandoening |
| CDH11cadherin 11 | Vaak (30–79%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Vaak (30–79%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Vaak (30–79%) | In 1 aandoening |
| COLEC10collectin subfamily member 10 | Vaak (30–79%) | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Vaak (30–79%) | In 2 aandoeningen |
| DMP1dentin matrix acidic phosphoprotein 1 | Vaak (30–79%) | In 2 aandoeningen |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 2 aandoeningen |
| FBN1fibrillin 1 | Vaak (30–79%) | In 2 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Vaak (30–79%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Vaak (30–79%) | In 3 aandoeningen |
| IFT122intraflagellar transport 122 | Vaak (30–79%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IFT52intraflagellar transport 52 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| IRX5iroquois homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Vaak (30–79%) | In 2 aandoeningen |
| LRP5LDL receptor related protein 5 | Vaak (30–79%) | In 1 aandoening |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Vaak (30–79%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Vaak (30–79%) | In 1 aandoening |
| OTUD5OTU deubiquitinase 5 | Vaak (30–79%) | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Vaak (30–79%) | In 2 aandoeningen |
| RECQL4RecQ like helicase 4 | Vaak (30–79%) | In 1 aandoening |
| SKISKI proto-oncogene | Vaak (30–79%) | In 2 aandoeningen |
| SLC2A10solute carrier family 2 member 10 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 3 aandoeningen |
| SMOsmoothened, frizzled class receptor | Vaak (30–79%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Vaak (30–79%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Soms (5–29%) | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Soms (5–29%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Soms (5–29%) | In 2 aandoeningen |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Soms (5–29%) | In 2 aandoeningen |
| FAT4FAT atypical cadherin 4 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FLNAfilamin A | Soms (5–29%) | In 1 aandoening |
| FLNBfilamin B | Soms (5–29%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Soms (5–29%) | In 2 aandoeningen |
| GPC6glypican 6 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Soms (5–29%) | In 2 aandoeningen |
| KPTNkaptin, actin binding protein | Soms (5–29%) | In 1 aandoening |
| KRT14keratin 14 | Soms (5–29%) | In 1 aandoening |
| KRT5keratin 5 | Soms (5–29%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 1 aandoening |
| MID1midline 1 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Soms (5–29%) | In 1 aandoening |
| NFIAnuclear factor I A | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 2 aandoeningen |
| PHEXphosphate regulating endopeptidase X-linked | Soms (5–29%) | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Soms (5–29%) | In 1 aandoening |
| PRIM1DNA primase subunit 1 | Soms (5–29%) | In 1 aandoening |
| PSAT1phosphoserine aminotransferase 1 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SCARF2scavenger receptor class F member 2 | Soms (5–29%) | In 2 aandoeningen |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Soms (5–29%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Soms (5–29%) | In 1 aandoening |
| SLC39A8solute carrier family 39 member 8 | Soms (5–29%) | In 2 aandoeningen |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Soms (5–29%) | In 2 aandoeningen |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Zelden (1–4%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Zelden (1–4%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Zelden (1–4%) | In 1 aandoening |
| ALPLalkaline phosphatase, biomineralization associated | Niet vastgelegd | In 2 aandoeningen |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Niet vastgelegd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Niet vastgelegd | In 1 aandoening |
| SMAD6SMAD family member 6 | Niet vastgelegd | In 1 aandoening |
| TLK2tousled like kinase 2 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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