Tunnus
Advanced bone age
Kliiniline nimetus: Accelerated skeletal maturation
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Kokkuvõte
- Teised nimetused
- Early bone maturation, Premature epiphyseal closure, Premature epiphyseal ossification, Premature fusion of the epiphyseal growth plate
- Kehasüsteem
- Abnormality of the musculoskeletal system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Advanced bone age, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test68 geeni on seotud tunnusega Advanced bone age
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Advanced bone age. 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 |
|---|---|---|
| ACANaggrecan | Alati | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alati | Esineb 2 haiguses |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Alati | Esineb 2 haiguses |
| EEDembryonic ectoderm development | Alati | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alati | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alati | Esineb 2 haiguses |
| GUSBglucuronidase beta | Alati | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alati | Esineb 2 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| TCF20transcription factor 20 | Alati | Esineb 1 haiguses |
| TSHRthyroid stimulating hormone receptor | Alati | Esineb 2 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| INSRinsulin receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEN1menin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 4 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PDE4Dphosphodiesterase 4D | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Väga sageli (80–99%) | Esineb 2 haiguses |
| XYLT1xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ASXL2ASXL transcriptional regulator 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Sageli (30–79%) | Esineb 2 haiguses |
| GNASGNAS complex locus | Sageli (30–79%) | Esineb 1 haiguses |
| HSD11B1hydroxysteroid 11-beta dehydrogenase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 1 haiguses |
| LEPleptin | Sageli (30–79%) | Esineb 1 haiguses |
| LEPRleptin receptor | Sageli (30–79%) | Esineb 1 haiguses |
| MC4Rmelanocortin 4 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PTCH1patched 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Cubiquitin protein ligase E3C | Sageli (30–79%) | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 28 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARCN1archain 1 coat protein complex I subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX6DEAD-box helicase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC3glypican 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GPC4glypican 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H1-4H1.4 linker histone, cluster member | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF135ring finger protein 135 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TET3tet methylcytosine dioxygenase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Harva (1–4%) | Esineb 1 haiguses |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Pole registreeritud | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Pole registreeritud | Esineb 1 haiguses |
| MC2Rmelanocortin 2 receptor | Pole registreeritud | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Pole registreeritud | Esineb 1 haiguses |
| SLC10A7solute carrier family 10 member 7 | 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