Požymis
Low blood cell count
Klinikinis pavadinimas: Pancytopenia
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Santrauka
- Taip pat vadinama
- Pancytopaenia
- Kūno sistema
- Abnormality of blood and blood-forming tissues
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/pancytopenia.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Low blood cell count, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test132 genų susiję su Low blood cell count
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Low blood cell count. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AK2adenylate kinase 2 | Visada | 1 ligoje |
| DNASE2deoxyribonuclease 2, lysosomal | Visada | 1 ligoje |
| DPP9dipeptidyl peptidase 9 | Visada | 1 ligoje |
| EXOC3L2exocyst complex component 3 like 2 | Visada | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Visada | 1 ligoje |
| FANCCFA complementation group C | Visada | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| IKZF1IKAROS family zinc finger 1 | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 2 ligose |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Visada | 1 ligoje |
| PLD4phospholipase D family member 4 | Visada | 1 ligoje |
| PRF1perforin 1 | Visada | 2 ligose |
| PSKH1protein serine kinase H1 | Visada | 1 ligoje |
| PTCRApre T cell antigen receptor alpha | Visada | 1 ligoje |
| PTPRCprotein tyrosine phosphatase receptor type C | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| SH2D1ASH2 domain containing 1A | Visada | 1 ligoje |
| SMAD4SMAD family member 4 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| STN1STN1 subunit of CST complex | Visada | 1 ligoje |
| THPOthrombopoietin | Visada | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Visada | 1 ligoje |
| XIAPX-linked inhibitor of apoptosis | Visada | 3 ligose |
| ALPK1alpha kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 7 ligose |
| RAB27ARAB27A, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 1 ligoje |
| DCLRE1BDNA cross-link repair 1B | Dažnai (30–79%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Dažnai (30–79%) | 3 ligose |
| DUTdeoxyuridine triphosphatase | Dažnai (30–79%) | 1 ligoje |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Dažnai (30–79%) | 1 ligoje |
| GALEUDP-galactose-4-epimerase | Dažnai (30–79%) | 1 ligoje |
| IFNGinterferon gamma | Dažnai (30–79%) | 2 ligose |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| ITKIL2 inducible T cell kinase | Dažnai (30–79%) | 1 ligoje |
| LIG4DNA ligase 4 | Dažnai (30–79%) | 2 ligose |
| MRPS7mitochondrial ribosomal protein S7 | Dažnai (30–79%) | 1 ligoje |
| NABP1nucleic acid binding protein 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 92 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 2 ligose |
| NHEJ1non-homologous end joining factor 1 | Dažnai (30–79%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Dažnai (30–79%) | 2 ligose |
| NLRC4NLR family CARD domain containing 4 | Dažnai (30–79%) | 1 ligoje |
| NOP10NOP10 ribonucleoprotein | Dažnai (30–79%) | 1 ligoje |
| NPM1nucleophosmin 1 | Dažnai (30–79%) | 1 ligoje |
| NUMA1nuclear mitotic apparatus protein 1 | Dažnai (30–79%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| PMLPML nuclear body scaffold | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PSMB9proteasome 20S subunit beta 9 | Dažnai (30–79%) | 1 ligoje |
| RAC2Rac family small GTPase 2 | Dažnai (30–79%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RARAretinoic acid receptor alpha | Dažnai (30–79%) | 1 ligoje |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Dažnai (30–79%) | 3 ligose |
| SCARB2scavenger receptor class B member 2 | Dažnai (30–79%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Dažnai (30–79%) | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Dažnai (30–79%) | 1 ligoje |
| SRP72signal recognition particle 72 | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| STAT5Bsignal transducer and activator of transcription 5B | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 1 ligoje |
| TCF3transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| TCN2transcobalamin 2 | Dažnai (30–79%) | 2 ligose |
| TERCtelomerase RNA component | Dažnai (30–79%) | 2 ligose |
| TERTtelomerase reverse transcriptase | Dažnai (30–79%) | 3 ligose |
| TNFRSF9TNF receptor superfamily member 9 | Dažnai (30–79%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Dažnai (30–79%) | 1 ligoje |
| ZBTB16zinc finger and BTB domain containing 16 | Dažnai (30–79%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CALRcalreticulin | Kartais (5–29%) | 1 ligoje |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CD27CD27 molecule | Kartais (5–29%) | 1 ligoje |
| CIITAclass II major histocompatibility complex transactivator | Kartais (5–29%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Kartais (5–29%) | 1 ligoje |
| CUBNcubilin | Kartais (5–29%) | 1 ligoje |
| EFL1elongation factor like GTPase 1 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| JAK2Janus kinase 2 | Kartais (5–29%) | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| LRBALPS responsive beige-like anchor protein | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MPLMPL proto-oncogene, thrombopoietin receptor | Kartais (5–29%) | 2 ligose |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 1 ligoje |
| RFX5regulatory factor X5 | Kartais (5–29%) | 1 ligoje |
| RFXANKregulatory factor X associated ankyrin containing protein | Kartais (5–29%) | 1 ligoje |
| RFXAPregulatory factor X associated protein | Kartais (5–29%) | 1 ligoje |
| RPA1replication protein A1 | Kartais (5–29%) | 1 ligoje |
| RUNX1RUNX family transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SAMD9Lsterile alpha motif domain containing 9 like | Kartais (5–29%) | 2 ligose |
| SLC46A1solute carrier family 46 member 1 | Kartais (5–29%) | 1 ligoje |
| SP110SP110 nuclear body protein | Kartais (5–29%) | 1 ligoje |
| SRSF2serine and arginine rich splicing factor 2 | Kartais (5–29%) | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Kartais (5–29%) | 3 ligose |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Retai (1–4 %) | 1 ligoje |
| GNASGNAS complex locus | Retai (1–4 %) | 1 ligoje |
| HAVCR2hepatitis A virus cellular receptor 2 | Retai (1–4 %) | 1 ligoje |
| SF3B1splicing factor 3b subunit 1 | Retai (1–4 %) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ATRATR checkpoint kinase | Neužfiksuota | 1 ligoje |
| BACH2BACH transcriptional regulator 2 | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| DHFRdihydrofolate reductase | Neužfiksuota | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Neužfiksuota | 1 ligoje |
| FANCAFA complementation group A | Neužfiksuota | 1 ligoje |
| FANCD2FA complementation group D2 | Neužfiksuota | 1 ligoje |
| FANCEFA complementation group E | Neužfiksuota | 1 ligoje |
| GATA2GATA binding protein 2 | Neužfiksuota | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Neužfiksuota | 1 ligoje |
| IVDisovaleryl-CoA dehydrogenase | Neužfiksuota | 1 ligoje |
| MMAAmetabolism of cobalamin associated A | Neužfiksuota | 1 ligoje |
| MMABmetabolism of cobalamin associated B | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Neužfiksuota | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Neužfiksuota | 1 ligoje |
| SAMD9sterile alpha motif domain containing 9 | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Neužfiksuota | 1 ligoje |
| TNFRSF4TNF receptor superfamily member 4 | Neužfiksuota | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Neužfiksuota | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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