Tunnus
High blood calcium levels
Kliiniline nimetus: Hypercalcemia
The concentration of calcium in the blood circulation is above the upper limit of normal.
Kokkuvõte
- Teised nimetused
- Increased calcium in blood, Elevated calcium(2+) concentration, Elevated calcium(2+) level, Elevated calcium(2+) level in blood, Hypercalcaemia, Increased calcium(2+) concentration, Increased calcium(2+) level, Increased calcium(2+) level in blood
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to High blood calcium levels, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test83 geeni on seotud tunnusega High blood calcium levels
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb High blood calcium levels. 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 |
|---|---|---|
| CASRcalcium sensing receptor | Alati | Esineb 2 haiguses |
| CDC73cell division cycle 73 | Alati | Esineb 6 haiguses |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Alati | Esineb 1 haiguses |
| GCM2GCM transcription factor 2 | Alati | Esineb 2 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KLklotho | Alati | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Alati | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Alati | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 2 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEN1menin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANKHANKH inorganic pyrophosphate transport regulator | Sageli (30–79%) | Esineb 1 haiguses |
| DLSTdihydrolipoamide S-succinyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Sageli (30–79%) | Esineb 1 haiguses |
| EPAS1endothelial PAS domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FHfumarate hydratase | Sageli (30–79%) | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Sageli (30–79%) | Esineb 2 haiguses |
| MAXMYC associated transcriptional regulator X | Sageli (30–79%) | Esineb 2 haiguses |
| MDH2malate dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 43 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| RETret proto-oncogene | Sageli (30–79%) | Esineb 3 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sageli (30–79%) | Esineb 2 haiguses |
| SDHCsuccinate dehydrogenase complex subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A11solute carrier family 25 member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Sageli (30–79%) | Esineb 2 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Sageli (30–79%) | Esineb 3 haiguses |
| BCL2BCL2 apoptosis regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL6BCL6 transcription repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC3glypican 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H19H19 imprinted maternally expressed transcript | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IGHimmunoglobulin heavy locus | Mõnikord (5–29%) | Esineb 1 haiguses |
| LDHAlactate dehydrogenase A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU6F2POU class 6 homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RESTRE1 silencing transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC5A1solute carrier family 5 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM28tripartite motif containing 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WT1WT1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Harva (1–4%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Pole registreeritud | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Pole registreeritud | Esineb 1 haiguses |
| GNA11G protein subunit alpha 11 | Pole registreeritud | Esineb 1 haiguses |
| SLC12A1solute carrier family 12 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 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.
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