Egenskap
Long, narrow head
Klinisk navn: 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.
Sammendrag
- Også kalt
- Narrow head shape, Narrow skull shape, Tall and narrow skull
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Long, narrow head forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 3 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| CUL7cullin 7 | Alltid | I 2 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| IFT52intraflagellar transport 52 | Alltid | I 2 tilstander |
| IFT81intraflagellar transport 81 | Alltid | I 1 tilstand |
| INTS1integrator complex subunit 1 | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 2 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Alltid | I 2 tilstander |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Alltid | I 2 tilstander |
| TBX5T-box transcription factor 5 | Alltid | I 1 tilstand |
| WDR35WD repeat domain 35 | Alltid | I 3 tilstander |
| ALX4ALX homeobox 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 3 tilstander |
| IFT122intraflagellar transport 122 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 3 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Svært ofte (80–99 %) | I 1 tilstand |
| MVKmevalonate kinase | Svært ofte (80–99 %) | I 2 tilstander |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Svært ofte (80–99 %) | I 3 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 169 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SLC3A1solute carrier family 3 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Svært ofte (80–99 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR19WD repeat domain 19 | Svært ofte (80–99 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| BGNbiglycan | Ofte (30–79 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofte (30–79 %) | I 2 tilstander |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Ofte (30–79 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| DLX3distal-less homeobox 3 | Ofte (30–79 %) | I 2 tilstander |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| FLT4fms related receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| GDF1growth differentiation factor 1 | Ofte (30–79 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Ofte (30–79 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KDRkinase insert domain receptor | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstander |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-6NK2 homeobox 6 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 2 tilstander |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstander |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstander |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ofte (30–79 %) | I 2 tilstander |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TRAIPTRAF interacting protein | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VDRvitamin D receptor | Ofte (30–79 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF142zinc finger protein 142 | Ofte (30–79 %) | I 1 tilstand |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Noen ganger (5–29 %) | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FKTNfukutin | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| IL11RAinterleukin 11 receptor subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 2 tilstander |
| KATNB1katanin regulatory subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 2 tilstander |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RELNreelin | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| FGF9fibroblast growth factor 9 | Sjelden (1–4%) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sjelden (1–4%) | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| ARSBarylsulfatase B | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| BLMBLM RecQ like helicase | Ikke registrert | I 1 tilstand |
| CNTN1contactin 1 | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| DYMdymeclin | Ikke registrert | I 1 tilstand |
| EXOC6Bexocyst complex component 6B | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ikke registrert | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ikke registrert | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ikke registrert | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| KPTNkaptin, actin binding protein | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Ikke registrert | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Ikke registrert | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ikke registrert | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Ikke registrert | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Ikke registrert | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Ikke registrert | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Ikke registrert | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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