Tunnus
Strawberry mark
Kliiniline nimetus: Hemangioma
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Kokkuvõte
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Strawberry mark, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test77 geeni on seotud tunnusega Strawberry mark
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Strawberry mark. 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 1 haiguses |
| FBXO28F-box protein 28 | Alati | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| THSD1thrombospondin type 1 domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Sageli (30–79%) | Esineb 1 haiguses |
| CCM2CCM2 scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KRIT1KRIT1 ankyrin repeat containing | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PDCD10programmed cell death 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELANEelastase, neutrophil expressed | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXH1forkhead box H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFI1growth factor independent 1 transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 37 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSL3MSL complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRP19signal recognition particle 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Harva (1–4%) | Esineb 1 haiguses |
| CALRcalreticulin | Harva (1–4%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Harva (1–4%) | Esineb 2 haiguses |
| JAK2Janus kinase 2 | Harva (1–4%) | Esineb 1 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Harva (1–4%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Harva (1–4%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Harva (1–4%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| CTSAcathepsin A | Pole registreeritud | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Pole registreeritud | Esineb 1 haiguses |
| FLT4fms related receptor tyrosine kinase 4 | Pole registreeritud | Esineb 1 haiguses |
| GPC6glypican 6 | Pole registreeritud | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Pole registreeritud | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| MAXMYC associated transcriptional regulator X | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| RETret proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| SEC23BSEC23 homolog B, COPII component | Pole registreeritud | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Pole registreeritud | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | 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
- Strawberry birthmark26 geeni
- Collection of dilated blood vessels that forms mass24 geeni
- Arachnoid hemangiomatosis16 geeni
- Retinal capillary hemangioma16 geeni
- Facial hemangioma12 geeni
- Choroidal hemangioma5 geeni
- Glabellar hemangioma5 geeni
- Lumbosacral hemangioma4 geeni
- Hemangiomatosis3 geeni
- Hemangioma of the lip1 geen
- Visceral hemangioma
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