Požymis
Long, narrow head
Klinikinis pavadinimas: Dolichocephaly
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Santrauka
- Taip pat vadinama
- Narrow head shape, Narrow skull shape, Tall and narrow skull
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 Long, narrow 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Visada | 2 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 3 ligose |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| CUL7cullin 7 | Visada | 2 ligose |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| IFT52intraflagellar transport 52 | Visada | 2 ligose |
| IFT81intraflagellar transport 81 | Visada | 1 ligoje |
| INTS1integrator complex subunit 1 | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 2 ligose |
| PEX14peroxisomal biogenesis factor 14 | Visada | 2 ligose |
| PSMC1proteasome 26S subunit, ATPase 1 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TBC1D7TBC1 domain family member 7 | Visada | 2 ligose |
| TBX5T-box transcription factor 5 | Visada | 1 ligoje |
| WDR35WD repeat domain 35 | Visada | 3 ligose |
| ALX4ALX homeobox 4 | Labai dažnai (80–99%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 3 ligose |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 3 ligose |
| IFT122intraflagellar transport 122 | Labai dažnai (80–99%) | 2 ligose |
| IFT43intraflagellar transport 43 | Labai dažnai (80–99%) | 3 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Labai dažnai (80–99%) | 1 ligoje |
| MVKmevalonate kinase | Labai dažnai (80–99%) | 2 ligose |
| NELFAnegative elongation factor complex member A | Labai dažnai (80–99%) | 1 ligoje |
| NOTCH3notch receptor 3 | Labai dažnai (80–99%) | 3 ligose |
| NSD2nuclear receptor binding SET domain protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Labai dažnai (80–99%) | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 169 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 3 ligose |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Labai dažnai (80–99%) | 1 ligoje |
| PREPLprolyl endopeptidase like | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| SLC3A1solute carrier family 3 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM53transmembrane protein 53 | Labai dažnai (80–99%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Labai dažnai (80–99%) | 2 ligose |
| WDR19WD repeat domain 19 | Labai dažnai (80–99%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Dažnai (30–79%) | 2 ligose |
| BGNbiglycan | Dažnai (30–79%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Dažnai (30–79%) | 2 ligose |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Dažnai (30–79%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DLX3distal-less homeobox 3 | Dažnai (30–79%) | 2 ligose |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 2 ligose |
| FLT4fms related receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| GATA5GATA binding protein 5 | Dažnai (30–79%) | 1 ligoje |
| GATA6GATA binding protein 6 | Dažnai (30–79%) | 1 ligoje |
| GDF1growth differentiation factor 1 | Dažnai (30–79%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Dažnai (30–79%) | 1 ligoje |
| IDUAalpha-L-iduronidase | Dažnai (30–79%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| KDM5Blysine demethylase 5B | Dažnai (30–79%) | 1 ligoje |
| KDRkinase insert domain receptor | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| MAN1B1mannosidase alpha class 1B member 1 | Dažnai (30–79%) | 2 ligose |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| NKX2-6NK2 homeobox 6 | Dažnai (30–79%) | 1 ligoje |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 2 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 2 ligose |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Dažnai (30–79%) | 2 ligose |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TRAIPTRAF interacting protein | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| VDRvitamin D receptor | Dažnai (30–79%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Dažnai (30–79%) | 1 ligoje |
| ZNF142zinc finger protein 142 | Dažnai (30–79%) | 1 ligoje |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Kartais (5–29%) | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | 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 |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | 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 |
| FKTNfukutin | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Kartais (5–29%) | 2 ligose |
| KATNB1katanin regulatory subunit B1 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | 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 |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Kartais (5–29%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| MTM1myotubularin 1 | Kartais (5–29%) | 2 ligose |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | 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 |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 2 ligose |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RELNreelin | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SCNM1sodium channel modifier 1 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMAD2SMAD family member 2 | Kartais (5–29%) | 1 ligoje |
| SNAP29synaptosome associated protein 29 | 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 |
| TGFB3transforming growth factor beta 3 | Kartais (5–29%) | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 2 ligose |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| FGF9fibroblast growth factor 9 | Retai (1–4 %) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Retai (1–4 %) | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| ARSBarylsulfatase B | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| BLMBLM RecQ like helicase | Neužfiksuota | 1 ligoje |
| CNTN1contactin 1 | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| DYMdymeclin | Neužfiksuota | 1 ligoje |
| EXOC6Bexocyst complex component 6B | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| GLI3GLI family zinc finger 3 | Neužfiksuota | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Neužfiksuota | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Neužfiksuota | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| KPTNkaptin, actin binding protein | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Neužfiksuota | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Neužfiksuota | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Neužfiksuota | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Neužfiksuota | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Neužfiksuota | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Neužfiksuota | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Neužfiksuota | 1 ligoje |
| TRIM37tripartite motif containing 37 | 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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