Tunnus
Long, narrow head
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Narrow head shape, Narrow skull shape, Tall and narrow skull
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Long, narrow head, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test209 geeni on seotud tunnusega Long, narrow head
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Long, narrow head. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Alati | Esineb 2 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 3 haiguses |
| CEP57centrosomal protein 57 | Alati | Esineb 1 haiguses |
| CUL7cullin 7 | Alati | Esineb 2 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Alati | Esineb 1 haiguses |
| IFT52intraflagellar transport 52 | Alati | Esineb 2 haiguses |
| IFT81intraflagellar transport 81 | Alati | Esineb 1 haiguses |
| INTS1integrator complex subunit 1 | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 2 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Alati | Esineb 2 haiguses |
| PSMC1proteasome 26S subunit, ATPase 1 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TBC1D7TBC1 domain family member 7 | Alati | Esineb 2 haiguses |
| TBX5T-box transcription factor 5 | Alati | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Alati | Esineb 3 haiguses |
| ALX4ALX homeobox 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CPLX1complexin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| IFT122intraflagellar transport 122 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 3 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| MVKmevalonate kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| NELFAnegative elongation factor complex member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 169 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PREPLprolyl endopeptidase like | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC3A1solute carrier family 3 member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM53transmembrane protein 53 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WDR19WD repeat domain 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| BGNbiglycan | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sageli (30–79%) | Esineb 2 haiguses |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COL5A1collagen type V alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DLX3distal-less homeobox 3 | Sageli (30–79%) | Esineb 2 haiguses |
| DMXL2Dmx like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 2 haiguses |
| FLT4fms related receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA5GATA binding protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA6GATA binding protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF1growth differentiation factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Sageli (30–79%) | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Sageli (30–79%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Sageli (30–79%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IPO8importin 8 | Sageli (30–79%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK9potassium two pore domain channel subfamily K member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM5Blysine demethylase 5B | Sageli (30–79%) | Esineb 1 haiguses |
| KDRkinase insert domain receptor | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 2 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-6NK2 homeobox 6 | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Sageli (30–79%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Sageli (30–79%) | Esineb 2 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SGSM3small G protein signaling modulator 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Sageli (30–79%) | Esineb 2 haiguses |
| TGFB2transforming growth factor beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAIPTRAF interacting protein | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| VDRvitamin D receptor | Sageli (30–79%) | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF142zinc finger protein 142 | Sageli (30–79%) | Esineb 1 haiguses |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASH1LASH1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA1BRCA1 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCCFA complementation group C | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCEFA complementation group E | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCGFA complementation group G | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCIFA complementation group I | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKTNfukutin | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 2 haiguses |
| KATNB1katanin regulatory subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LTBP4latent transforming growth factor beta binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSL3MSL complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTM1myotubularin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MYH3myosin heavy chain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PALB2partner and localizer of BRCA2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDHGC4protocadherin gamma subfamily C, 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 2 haiguses |
| RAD51RAD51 recombinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELNreelin | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCNM1sodium channel modifier 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harva (1–4%) | Esineb 1 haiguses |
| FGF9fibroblast growth factor 9 | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Harva (1–4%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| ARSBarylsulfatase B | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| BLMBLM RecQ like helicase | Pole registreeritud | Esineb 1 haiguses |
| CNTN1contactin 1 | Pole registreeritud | Esineb 1 haiguses |
| CNTNAP1contactin associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| DYMdymeclin | Pole registreeritud | Esineb 1 haiguses |
| EXOC6Bexocyst complex component 6B | Pole registreeritud | Esineb 1 haiguses |
| FBN2fibrillin 2 | Pole registreeritud | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Pole registreeritud | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Pole registreeritud | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Pole registreeritud | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Pole registreeritud | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Pole registreeritud | Esineb 1 haiguses |
| KPTNkaptin, actin binding protein | Pole registreeritud | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Pole registreeritud | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Pole registreeritud | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB39BRAB39B, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| SLC6A9solute carrier family 6 member 9 | Pole registreeritud | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Pole registreeritud | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Pole registreeritud | Esineb 1 haiguses |
| TRIM37tripartite motif containing 37 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast