Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Blood spots
Kliiniline nimetus: Purpura
Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
Kokkuvõte
- Teised nimetused
- Red or purple spots on the skin
Blood spotsHP:0000979
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Blood spots, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test81 geeni on seotud tunnusega Blood spots
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blood spots. 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 |
|---|---|---|
| CD81CD81 molecule | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| FYB1FYN binding protein 1 | Alati | Esineb 1 haiguses |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alati | Esineb 1 haiguses |
| PROS1protein S | Alati | Esineb 3 haiguses |
| RUNX1RUNX family transcription factor 1 | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 1 haiguses |
| CD109CD109 molecule | Sageli (30–79%) | Esineb 1 haiguses |
| FCGR2CFc gamma receptor IIc (gene/pseudogene) | Sageli (30–79%) | Esineb 1 haiguses |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNA14G protein subunit alpha 14 | Sageli (30–79%) | Esineb 2 haiguses |
| GP1BAglycoprotein Ib platelet subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 3 haiguses |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA2integrin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA2Bintegrin subunit alpha 2b | Sageli (30–79%) | Esineb 3 haiguses |
| ITGB3integrin subunit beta 3 | Sageli (30–79%) | Esineb 2 haiguses |
| NABP1nucleic acid binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NUMA1nuclear mitotic apparatus protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PMLPML nuclear body scaffold | Sageli (30–79%) | Esineb 1 haiguses |
| PRF1perforin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PROCprotein C, inactivator of coagulation factors Va and VIIIa | Sageli (30–79%) | Esineb 2 haiguses |
| RARAretinoic acid receptor alpha | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Sageli (30–79%) | Esineb 1 haiguses |
| STX11syntaxin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| STXBP2syntaxin binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Dunc-13 homolog D | Sageli (30–79%) | Esineb 1 haiguses |
| WASWASP actin nucleation promoting factor | Sageli (30–79%) | Esineb 2 haiguses |
| ZBTB16zinc finger and BTB domain containing 16 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 41 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ATRXATRX chromatin remodeler | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CALRcalreticulin | Mõnikord (5–29%) | Esineb 2 haiguses |
| CDH23cadherin related 23 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNA11G protein subunit alpha 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| MVKmevalonate kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRTN3proteinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP48ubiquitin specific peptidase 48 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP8ubiquitin specific peptidase 8 | Mõnikord (5–29%) | Esineb 2 haiguses |
| F8coagulation factor VIII | Harva (1–4%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Pole registreeritud | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Pole registreeritud | Esineb 1 haiguses |
| C2complement C2 | Pole registreeritud | Esineb 1 haiguses |
| C4Acomplement C4A (Chido/Rodgers blood group) | Pole registreeritud | Esineb 1 haiguses |
| CFHcomplement factor H | Pole registreeritud | Esineb 1 haiguses |
| CFHR1complement factor H related 1 | Pole registreeritud | Esineb 1 haiguses |
| CFHR3complement factor H related 3 | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| GP9glycoprotein IX platelet | Pole registreeritud | Esineb 1 haiguses |
| HOXA11homeobox A11 | Pole registreeritud | Esineb 1 haiguses |
| SH2B3SH2B adaptor protein 3 | Pole registreeritud | Esineb 1 haiguses |
| TFR2transferrin receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | 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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast