Tunnus
Low blood cell count
Kliiniline nimetus: Pancytopenia
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Kokkuvõte
- Teised nimetused
- Pancytopaenia
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Low blood cell count, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test132 geeni on seotud tunnusega Low blood cell count
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Low blood cell count. 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 |
|---|---|---|
| AK2adenylate kinase 2 | Alati | Esineb 1 haiguses |
| DNASE2deoxyribonuclease 2, lysosomal | Alati | Esineb 1 haiguses |
| DPP9dipeptidyl peptidase 9 | Alati | Esineb 1 haiguses |
| EXOC3L2exocyst complex component 3 like 2 | Alati | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Alati | Esineb 1 haiguses |
| FANCCFA complementation group C | Alati | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| IKZF1IKAROS family zinc finger 1 | Alati | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Alati | Esineb 2 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Alati | Esineb 1 haiguses |
| PLD4phospholipase D family member 4 | Alati | Esineb 1 haiguses |
| PRF1perforin 1 | Alati | Esineb 2 haiguses |
| PSKH1protein serine kinase H1 | Alati | Esineb 1 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
| PTPRCprotein tyrosine phosphatase receptor type C | Alati | Esineb 1 haiguses |
| RPL17ribosomal protein L17 | Alati | Esineb 1 haiguses |
| SH2D1ASH2 domain containing 1A | Alati | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| STN1STN1 subunit of CST complex | Alati | Esineb 1 haiguses |
| THPOthrombopoietin | Alati | Esineb 1 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Alati | Esineb 1 haiguses |
| XIAPX-linked inhibitor of apoptosis | Alati | Esineb 3 haiguses |
| ALPK1alpha kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Väga sageli (80–99%) | Esineb 7 haiguses |
| RAB27ARAB27A, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 1 haiguses |
| DCLRE1BDNA cross-link repair 1B | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sageli (30–79%) | Esineb 3 haiguses |
| DUTdeoxyuridine triphosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Sageli (30–79%) | Esineb 1 haiguses |
| GALEUDP-galactose-4-epimerase | Sageli (30–79%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Sageli (30–79%) | Esineb 2 haiguses |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ITKIL2 inducible T cell kinase | Sageli (30–79%) | Esineb 1 haiguses |
| LIG4DNA ligase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| MRPS7mitochondrial ribosomal protein S7 | Sageli (30–79%) | Esineb 1 haiguses |
| NABP1nucleic acid binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 92 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NAXDNAD(P)HX dehydratase | Sageli (30–79%) | Esineb 2 haiguses |
| NHEJ1non-homologous end joining factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Sageli (30–79%) | Esineb 2 haiguses |
| NLRC4NLR family CARD domain containing 4 | Sageli (30–79%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | 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 |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PMLPML nuclear body scaffold | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PSMB9proteasome 20S subunit beta 9 | Sageli (30–79%) | Esineb 1 haiguses |
| RAC2Rac family small GTPase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RARAretinoic acid receptor alpha | Sageli (30–79%) | Esineb 1 haiguses |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| SBDSSBDS ribosome maturation factor | Sageli (30–79%) | Esineb 3 haiguses |
| SCARB2scavenger receptor class B member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SRP72signal recognition particle 72 | 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 |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCF3transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TCN2transcobalamin 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TERCtelomerase RNA component | Sageli (30–79%) | Esineb 2 haiguses |
| TERTtelomerase reverse transcriptase | Sageli (30–79%) | Esineb 3 haiguses |
| TNFRSF9TNF receptor superfamily member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB16zinc finger and BTB domain containing 16 | Sageli (30–79%) | Esineb 1 haiguses |
| AMNamnion associated transmembrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CALRcalreticulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD27CD27 molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CIITAclass II major histocompatibility complex transactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG6component of oligomeric golgi complex 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUBNcubilin | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFL1elongation factor like GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMBRD1LMBR1 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRBALPS responsive beige-like anchor protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX5regulatory factor X5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFXANKregulatory factor X associated ankyrin containing protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFXAPregulatory factor X associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPA1replication protein A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RUNX1RUNX family transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAMD9Lsterile alpha motif domain containing 9 like | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC46A1solute carrier family 46 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SP110SP110 nuclear body protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRSF2serine and arginine rich splicing factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Harva (1–4%) | Esineb 1 haiguses |
| GNASGNAS complex locus | Harva (1–4%) | Esineb 1 haiguses |
| HAVCR2hepatitis A virus cellular receptor 2 | Harva (1–4%) | Esineb 1 haiguses |
| SF3B1splicing factor 3b subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Pole registreeritud | Esineb 1 haiguses |
| APTXaprataxin | Pole registreeritud | Esineb 1 haiguses |
| ATRATR checkpoint kinase | Pole registreeritud | Esineb 1 haiguses |
| BACH2BACH transcriptional regulator 2 | Pole registreeritud | Esineb 1 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Pole registreeritud | Esineb 1 haiguses |
| DHFRdihydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| FANCAFA complementation group A | Pole registreeritud | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Pole registreeritud | Esineb 1 haiguses |
| FANCEFA complementation group E | Pole registreeritud | Esineb 1 haiguses |
| GATA2GATA binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Pole registreeritud | Esineb 1 haiguses |
| IVDisovaleryl-CoA dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| MMAAmetabolism of cobalamin associated A | Pole registreeritud | Esineb 1 haiguses |
| MMABmetabolism of cobalamin associated B | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Pole registreeritud | Esineb 1 haiguses |
| SAMD9sterile alpha motif domain containing 9 | Pole registreeritud | Esineb 1 haiguses |
| SRP54signal recognition particle 54 | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | Pole registreeritud | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF4TNF receptor superfamily member 4 | Pole registreeritud | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Pole registreeritud | Esineb 1 haiguses |
| WRAP53WD repeat containing antisense to TP53 | 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