Požymis
Deformity of the skull
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Cranial suture synostosis, Craniosyostosis, Early fusion of cranial sutures, Premature closure of cranial sutures, Premature suture closure
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 Deformity of the skull. 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 |
|---|---|---|
| ALX4ALX homeobox 4 | Visada | 3 ligose |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Visada | 6 ligose |
| FGFR2fibroblast growth factor receptor 2 | Visada | 6 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 3 ligose |
| GON4Lgon-4 like | Visada | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| MSX2msh homeobox 2 | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Visada | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Visada | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Visada | 2 ligose |
| TWIST1twist family bHLH transcription factor 1 | Visada | 3 ligose |
| WDR35WD repeat domain 35 | Visada | 2 ligose |
| ZIC1Zic family zinc finger 1 | Visada | 1 ligoje |
| ATRATR checkpoint kinase | Labai dažnai (80–99%) | 1 ligoje |
| ATRIPATR interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| CDC45cell division cycle 45 | Labai dažnai (80–99%) | 2 ligose |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 1 ligoje |
| CEP295centrosomal protein 295 | Labai dažnai (80–99%) | 1 ligoje |
| CEP63centrosomal protein 63 | Labai dažnai (80–99%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| EFNB1ephrin B1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 2 ligose |
| MEGF8multiple EGF like domains 8 | Labai dažnai (80–99%) | 2 ligose |
| NINninein | Labai dažnai (80–99%) | 1 ligoje |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Labai dažnai (80–99%) | 1 ligoje |
| NUP85nucleoporin 85 | Labai dažnai (80–99%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PCNTpericentrin | Labai dažnai (80–99%) | 1 ligoje |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 118 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RAB23RAB23, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| SNX10sorting nexin 10 | Labai dažnai (80–99%) | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Labai dažnai (80–99%) | 1 ligoje |
| TRAIPTRAF interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| CCNQcyclin Q | Dažnai (30–79%) | 1 ligoje |
| CDC6cell division cycle 6 | Dažnai (30–79%) | 1 ligoje |
| CDH11cadherin 11 | Dažnai (30–79%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Dažnai (30–79%) | 1 ligoje |
| CHD5chromodomain helicase DNA binding protein 5 | Dažnai (30–79%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Dažnai (30–79%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Dažnai (30–79%) | 1 ligoje |
| COLEC11collectin subfamily member 11 | Dažnai (30–79%) | 2 ligose |
| DMP1dentin matrix acidic phosphoprotein 1 | Dažnai (30–79%) | 2 ligose |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 2 ligose |
| FBN1fibrillin 1 | Dažnai (30–79%) | 2 ligose |
| GMNNgeminin DNA replication inhibitor | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 3 ligose |
| IFT122intraflagellar transport 122 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT52intraflagellar transport 52 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| IRX5iroquois homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 2 ligose |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| MASP1MBL associated serine protease 1 | Dažnai (30–79%) | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Dažnai (30–79%) | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Dažnai (30–79%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Dažnai (30–79%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Dažnai (30–79%) | 2 ligose |
| RECQL4RecQ like helicase 4 | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 2 ligose |
| SLC2A10solute carrier family 2 member 10 | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 3 ligose |
| SMOsmoothened, frizzled class receptor | Dažnai (30–79%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 2 ligose |
| WBP4WW domain binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Kartais (5–29%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Kartais (5–29%) | 2 ligose |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 2 ligose |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FLNAfilamin A | Kartais (5–29%) | 1 ligoje |
| FLNBfilamin B | Kartais (5–29%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Kartais (5–29%) | 2 ligose |
| GPC6glypican 6 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Kartais (5–29%) | 2 ligose |
| KPTNkaptin, actin binding protein | Kartais (5–29%) | 1 ligoje |
| KRT14keratin 14 | Kartais (5–29%) | 1 ligoje |
| KRT5keratin 5 | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| NFIAnuclear factor I A | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 2 ligose |
| PHEXphosphate regulating endopeptidase X-linked | Kartais (5–29%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Kartais (5–29%) | 1 ligoje |
| PRIM1DNA primase subunit 1 | Kartais (5–29%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Kartais (5–29%) | 2 ligose |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Kartais (5–29%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Kartais (5–29%) | 1 ligoje |
| SLC39A8solute carrier family 39 member 8 | Kartais (5–29%) | 2 ligose |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Kartais (5–29%) | 2 ligose |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Retai (1–4 %) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Retai (1–4 %) | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Neužfiksuota | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Neužfiksuota | 1 ligoje |
| SMAD6SMAD family member 6 | Neužfiksuota | 1 ligoje |
| TLK2tousled like kinase 2 | 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.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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