Požymis
Asymmetry of the posterior head
Klinikinis pavadinimas: Plagiocephaly
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Santrauka
- Taip pat vadinama
- Asymmetry of the posterior skull, Flat head syndrome, Flattening of head, Flattening of skull, Rhomboid shaped head, Rhomboid shaped skull, Flattening of cranial vault, Flattening of cranium, Rhomboid shaped cranium
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 Asymmetry of the posterior head. 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 |
|---|---|---|
| ARXaristaless related homeobox | Visada | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 1 ligoje |
| HEPHL1hephaestin like 1 | Visada | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Visada | 2 ligose |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 2 ligose |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
| RMP64ribonuclease MRP subunit p64 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Labai dažnai (80–99%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Labai dažnai (80–99%) | 2 ligose |
| RAB23RAB23, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 2 ligose |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Dažnai (30–79%) | 1 ligoje |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Dažnai (30–79%) | 1 ligoje |
| EFNB1ephrin B1 | Dažnai (30–79%) | 1 ligoje |
| EMC10ER membrane protein complex subunit 10 | Dažnai (30–79%) | 1 ligoje |
| EML1EMAP like 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 3 ligose |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 2 ligose |
| KDM6Blysine demethylase 6B | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 117 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LMX1BLIM homeobox transcription factor 1 beta | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| NLGN4Xneuroligin 4 X-linked | Dažnai (30–79%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Dažnai (30–79%) | 2 ligose |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| POLR2ARNA polymerase II subunit A | Dažnai (30–79%) | 1 ligoje |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Dažnai (30–79%) | 2 ligose |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 3 ligose |
| ZBTB20zinc finger and BTB domain containing 20 | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| AGO2argonaute RISC catalytic component 2 | Kartais (5–29%) | 1 ligoje |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Kartais (5–29%) | 1 ligoje |
| CBFBcore-binding factor subunit beta | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 2 ligose |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Kartais (5–29%) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Kartais (5–29%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 1 ligoje |
| KIF21Akinesin family member 21A | Kartais (5–29%) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Kartais (5–29%) | 2 ligose |
| LSM11LSM11, U7 small nuclear RNA associated | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MESDmesoderm development LRP chaperone | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Kartais (5–29%) | 1 ligoje |
| NRCAMneuronal cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PHF21APHD finger protein 21A | Kartais (5–29%) | 1 ligoje |
| PHOX2Apaired like homeobox 2A | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 2 ligose |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 2 ligose |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| RAC1Rac family small GTPase 1 | Kartais (5–29%) | 2 ligose |
| RNASEH2Aribonuclease H2 subunit A | Kartais (5–29%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Kartais (5–29%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Kartais (5–29%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| SCYL2SCY1 like pseudokinase 2 | Kartais (5–29%) | 1 ligoje |
| SETSET nuclear proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 2 ligose |
| TP53RKTP53 regulating kinase | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 2 ligose |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| WBP11WW domain binding protein 11 | Kartais (5–29%) | 1 ligoje |
| ZIC1Zic family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Retai (1–4 %) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Retai (1–4 %) | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Neužfiksuota | 1 ligoje |
| DPYSdihydropyrimidinase | Neužfiksuota | 1 ligoje |
| FBXO11F-box protein 11 | Neužfiksuota | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Neužfiksuota | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| RAC3Rac family small GTPase 3 | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | 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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