Požymis
Sloping forehead
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Santrauka
- Taip pat vadinama
- Inclined forehead, Receding forehead, Posteriorly sloping forehead
- Kūno sistema
- Abnormality of head or neck
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 Sloping forehead. 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Visada | 2 ligose |
| ASPMassembly factor for spindle microtubules | Visada | 2 ligose |
| ASXL3ASXL transcriptional regulator 3 | Visada | 1 ligoje |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Visada | 2 ligose |
| CDK6cyclin dependent kinase 6 | Visada | 2 ligose |
| CENPEcentromere protein E | Visada | 2 ligose |
| CEP135centrosomal protein 135 | Visada | 2 ligose |
| CEP152centrosomal protein 152 | Visada | 2 ligose |
| COASYCoenzyme A synthase | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| DDX11DEAD/H-box helicase 11 | Visada | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KNL1kinetochore scaffold 1 | Visada | 2 ligose |
| NBNnibrin | Visada | 2 ligose |
| NCAPD2non-SMC condensin I complex subunit D2 | Visada | 1 ligoje |
| NCAPHnon-SMC condensin I complex subunit H | Visada | 1 ligoje |
| NUP107nucleoporin 107 | Visada | 2 ligose |
| PSAT1phosphoserine aminotransferase 1 | Visada | 2 ligose |
| RBBP8RB binding protein 8, endonuclease | Visada | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Visada | 3 ligose |
| RRP7Aribosomal RNA processing 7 homolog A | Visada | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Visada | 2 ligose |
| STAG2STAG2 cohesin complex component | Visada | 1 ligoje |
| STILSTIL centriolar assembly protein | Visada | 2 ligose |
| TSEN2tRNA splicing endonuclease subunit 2 | Visada | 2 ligose |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| WDR62WD repeat domain 62 | Visada | 2 ligose |
| CITcitron rho-interacting serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| COPB2coat protein complex I subunit beta 2 | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Labai dažnai (80–99%) | 1 ligoje |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 1 ligoje |
| KIF14kinesin family member 14 | Labai dažnai (80–99%) | 3 ligose |
| MCM7minichromosome maintenance complex component 7 | Labai dažnai (80–99%) | 1 ligoje |
| MCPH1microcephalin 1 | Labai dažnai (80–99%) | 1 ligoje |
| METTL5methyltransferase 5, N6-adenosine | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 161 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Labai dažnai (80–99%) | 1 ligoje |
| NCAPD3non-SMC condensin II complex subunit D3 | Labai dažnai (80–99%) | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NUP37nucleoporin 37 | Labai dažnai (80–99%) | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| PHC1polyhomeotic homolog 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Labai dažnai (80–99%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Labai dažnai (80–99%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SARS1seryl-tRNA synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SASS6SAS-6 centriolar assembly protein | Labai dažnai (80–99%) | 1 ligoje |
| TAF13TATA-box binding protein associated factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC10trafficking protein particle complex subunit 10 | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC14trafficking protein particle complex subunit 14 | Labai dažnai (80–99%) | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 2 ligose |
| ZNF526zinc finger protein 526 | Labai dažnai (80–99%) | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Dažnai (30–79%) | 1 ligoje |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| B9D2B9 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CEP295centrosomal protein 295 | Dažnai (30–79%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 1 ligoje |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| GPKOWG-patch domain and KOW motifs | Dažnai (30–79%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Dažnai (30–79%) | 2 ligose |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| MGPmatrix Gla protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 2 ligose |
| PAK3p21 (RAC1) activated kinase 3 | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PLK4polo like kinase 4 | Dažnai (30–79%) | 2 ligose |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Dažnai (30–79%) | 1 ligoje |
| QARS1glutaminyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| RELNreelin | Dažnai (30–79%) | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Dažnai (30–79%) | 1 ligoje |
| RTTNrotatin | Dažnai (30–79%) | 1 ligoje |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Dažnai (30–79%) | 1 ligoje |
| TCTN1tectonic family member 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN2tectonic family member 2 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM107transmembrane protein 107 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Dažnai (30–79%) | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Dažnai (30–79%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Dažnai (30–79%) | 2 ligose |
| TUBGCP4tubulin gamma complex component 4 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Dažnai (30–79%) | 2 ligose |
| TXNDC15thioredoxin domain containing 15 | Dažnai (30–79%) | 1 ligoje |
| VARS1valyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| CNOT1CCR4-NOT transcription complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CTSDcathepsin D | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 2 ligose |
| KIFBPkinesin family binding protein | Kartais (5–29%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Kartais (5–29%) | 1 ligoje |
| TBCBtubulin folding cofactor B | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 2 ligose |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| TTI2TELO2 interacting protein 2 | Kartais (5–29%) | 2 ligose |
| TUBGCP2tubulin gamma complex component 2 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| UGP2UDP-glucose pyrophosphorylase 2 | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| ARXaristaless related homeobox | Retai (1–4 %) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Retai (1–4 %) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Retai (1–4 %) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Retai (1–4 %) | 1 ligoje |
| DMXL2Dmx like 2 | Retai (1–4 %) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Retai (1–4 %) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Retai (1–4 %) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Retai (1–4 %) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Retai (1–4 %) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Retai (1–4 %) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Retai (1–4 %) | 1 ligoje |
| PAHphenylalanine hydroxylase | Retai (1–4 %) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Retai (1–4 %) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Retai (1–4 %) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Retai (1–4 %) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Retai (1–4 %) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Retai (1–4 %) | 1 ligoje |
| SIK1salt inducible kinase 1 | Retai (1–4 %) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Retai (1–4 %) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Retai (1–4 %) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Retai (1–4 %) | 1 ligoje |
| ATRATR checkpoint kinase | Neužfiksuota | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| OCLNoccludin | Neužfiksuota | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PCNTpericentrin | Neužfiksuota | 1 ligoje |
| PHF8PHD finger protein 8 | Neužfiksuota | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Neužfiksuota | 1 ligoje |
| SETBP1SET binding protein 1 | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Neužfiksuota | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
| ZNF335zinc finger protein 335 | 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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