Tunnus
Tall stature
A height above that which is expected according to age and gender norms.
Kokkuvõte
- Teised nimetused
- Increased body height, Accelerated linear growth, Increased linear growth
- Kehasüsteem
- Growth abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Tall stature, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test101 geeni on seotud tunnusega Tall stature
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Tall stature. 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 |
|---|---|---|
| FBN1fibrillin 1 | Alati | Esineb 4 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 1 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alati | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Alati | Esineb 1 haiguses |
| NPR3natriuretic peptide receptor 3 | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 3 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TCF20transcription factor 20 | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARandrogen receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| ESR1estrogen receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEN1menin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTCH1patched 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF135ring finger protein 135 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOSTsclerostin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Väga sageli (80–99%) | Esineb 2 haiguses |
| ABAT4-aminobutyrate aminotransferase | Sageli (30–79%) | Esineb 2 haiguses |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IPO8importin 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 61 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SMAD3SMAD family member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Sageli (30–79%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Sageli (30–79%) | Esineb 3 haiguses |
| TGFB3transforming growth factor beta 3 | Sageli (30–79%) | Esineb 3 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TRIM32tripartite motif containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTA2actin alpha 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| C1Rcomplement C1r | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF3fibroblast growth factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LOXlysyl oxidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAT2Amethionine adenosyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MC2Rmelanocortin 2 receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| MFAP5microfibril associated protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MRAPmelanocortin 2 receptor accessory protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYLKmyosin light chain kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NNTnicotinamide nucleotide transhydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKG1protein kinase cGMP-dependent 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRRM2serine/arginine repetitive matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STARsteroidogenic acute regulatory protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| THSD4thrombospondin type 1 domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TXNRD2thioredoxin reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPO1exportin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE11Aphosphodiesterase 11A | Harva (1–4%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Harva (1–4%) | Esineb 1 haiguses |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Pole registreeritud | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Pole registreeritud | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Pole registreeritud | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Pole registreeritud | Esineb 1 haiguses |
| MC4Rmelanocortin 4 receptor | Pole registreeritud | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Pole registreeritud | Esineb 1 haiguses |
| SMSspermine synthase | Pole registreeritud | Esineb 1 haiguses |
| SRYsex determining region Y | Pole registreeritud | Esineb 2 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