Tunnus
Smaller or shorter than typical limbs
Kliiniline nimetus: Micromelia
The presence of abnormally small extremities.
Kokkuvõte
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Smaller or shorter than typical limbs, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test95 geeni on seotud tunnusega Smaller or shorter than typical limbs
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Smaller or shorter than typical limbs. 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 |
|---|---|---|
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 2 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alati | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 4 haiguses |
| HHAThedgehog acyltransferase | Alati | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | Alati | Esineb 1 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Alati | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Alati | Esineb 4 haiguses |
| ACANaggrecan | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| DVL1dishevelled segment polarity protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EVCEvC ciliary complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLNBfilamin B | Väga sageli (80–99%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GLI1GLI family zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IHHIndian hedgehog signaling molecule | Väga sageli (80–99%) | Esineb 2 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LBRlamin B receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 55 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LIFRLIF receptor subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCNTpericentrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 2 haiguses |
| SHOXSHOX homeobox | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 5 haiguses |
| SLC35D1solute carrier family 35 member D1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC21Btetratricopeptide repeat domain 21B | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WNT5AWnt family member 5A | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sageli (30–79%) | Esineb 1 haiguses |
| CD96CD96 molecule | Sageli (30–79%) | Esineb 2 haiguses |
| CUL7cullin 7 | Sageli (30–79%) | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Sageli (30–79%) | Esineb 1 haiguses |
| GPC6glypican 6 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Sageli (30–79%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| CCN2cellular communication network factor 2 | Pole registreeritud | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Pole registreeritud | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| DDRGK1DDRGK domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Pole registreeritud | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Pole registreeritud | Esineb 1 haiguses |
| MATN3matrilin 3 | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Pole registreeritud | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | 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