Požymis
Short foot
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Santrauka
- Taip pat vadinama
- Short feet, Small feet, Hypoplastic feet
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Short foot, and the rest of your genome, with one test.
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Įsigyti savo Genome Test158 genų susiję su Short foot
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short foot. 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Visada | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Visada | 1 ligoje |
| CENPEcentromere protein E | Visada | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 3 ligose |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Visada | 2 ligose |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Visada | 1 ligoje |
| KDM5Clysine demethylase 5C | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF5Ckinesin family member 5C | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MIR140microRNA 140 | Visada | 1 ligoje |
| NGLY1N-glycanase 1 | Visada | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Visada | 2 ligose |
| POC1APOC1 centriolar protein A | Visada | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Visada | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Visada | 1 ligoje |
| SMAD4SMAD family member 4 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 4 ligose |
| SPARTspartin | Visada | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Visada | 2 ligose |
| WDR19WD repeat domain 19 | Visada | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| BMPR1Bbone morphogenetic protein receptor type 1B | Labai dažnai (80–99%) | 3 ligose |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Labai dažnai (80–99%) | 3 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Labai dažnai (80–99%) | 2 ligose |
| DYNC2I1dynein 2 intermediate chain 1 | Labai dažnai (80–99%) | 2 ligose |
| DYNC2I2dynein 2 intermediate chain 2 | Labai dažnai (80–99%) | 2 ligose |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| GDF5growth differentiation factor 5 | Labai dažnai (80–99%) | 5 ligose |
| GPC3glypican 3 | Labai dažnai (80–99%) | 2 ligose |
| GPC4glypican 4 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 118 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| HDAC6histone deacetylase 6 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 3 ligose |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Labai dažnai (80–99%) | 3 ligose |
| IHHIndian hedgehog signaling molecule | Labai dažnai (80–99%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 2 ligose |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 7 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 2 ligose |
| MEG3maternally expressed 3 | Labai dažnai (80–99%) | 3 ligose |
| MKRN3makorin ring finger protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| NOGnoggin | Labai dažnai (80–99%) | 2 ligose |
| NPAP1nuclear pore associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Labai dažnai (80–99%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Labai dažnai (80–99%) | 3 ligose |
| SHOXSHOX homeobox | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 2 ligose |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Labai dažnai (80–99%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Labai dažnai (80–99%) | 1 ligoje |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Labai dažnai (80–99%) | 4 ligose |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| WDR35WD repeat domain 35 | Labai dažnai (80–99%) | 1 ligoje |
| WNT7AWnt family member 7A | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Dažnai (30–79%) | 3 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| CEP120centrosomal protein 120 | Dažnai (30–79%) | 1 ligoje |
| CERT1ceramide transporter 1 | Dažnai (30–79%) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CTSKcathepsin K | Dažnai (30–79%) | 1 ligoje |
| CUL4Bcullin 4B | Dažnai (30–79%) | 2 ligose |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 3 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 1 ligoje |
| H4C3H4 clustered histone 3 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Dažnai (30–79%) | 2 ligose |
| MECP2methyl-CpG binding protein 2 | Dažnai (30–79%) | 3 ligose |
| NDNnecdin, MAGE family member | Dažnai (30–79%) | 4 ligose |
| NTNG1netrin G1 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 3 ligose |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 5 ligose |
| TRIP11thyroid hormone receptor interactor 11 | Dažnai (30–79%) | 1 ligoje |
| TTC21Btetratricopeptide repeat domain 21B | Dažnai (30–79%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Kartais (5–29%) | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Kartais (5–29%) | 2 ligose |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Kartais (5–29%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 2 ligose |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Neužfiksuota | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Neužfiksuota | 1 ligoje |
| BGNbiglycan | Neužfiksuota | 1 ligoje |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| FAM50Afamily with sequence similarity 50 member A | Neužfiksuota | 1 ligoje |
| FBXO11F-box protein 11 | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| HTThuntingtin | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| LMBR1limb development membrane protein 1 | Neužfiksuota | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Neužfiksuota | 1 ligoje |
| MASP1MBL associated serine protease 1 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SONSON DNA and RNA binding protein | Neužfiksuota | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | 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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