Tunnus
Low blood calcium levels
Kliiniline nimetus: Hypocalcemia
The concentration of calcium in the blood circulation is below the lower limit of normal.
Kokkuvõte
- Teised nimetused
- Decreased calcium(2+) concentration, Decreased calcium(2+) level, Decreased calcium(2+) level in blood, Hypocalcaemia, Reduced calcium(2+) concentration, Reduced calcium(2+) level, Reduced calcium(2+) level in blood
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Low 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 Low blood calcium levels
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Low 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 |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alati | Esineb 1 haiguses |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Alati | Esineb 1 haiguses |
| CASRcalcium sensing receptor | Alati | Esineb 2 haiguses |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Alati | Esineb 2 haiguses |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Alati | Esineb 2 haiguses |
| FAM111AFAM111 trypsin like peptidase A | Alati | Esineb 2 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| GCM2GCM transcription factor 2 | Alati | Esineb 2 haiguses |
| GNA11G protein subunit alpha 11 | Alati | Esineb 2 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Alati | Esineb 1 haiguses |
| PTHparathyroid hormone | Alati | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Alati | Esineb 4 haiguses |
| TRPM6transient receptor potential cation channel subfamily M member 6 | Alati | Esineb 1 haiguses |
| GNASGNAS complex locus | Väga sageli (80–99%) | Esineb 6 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAGDRas related GTP binding D | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX16syntaxin 16 | Väga sageli (80–99%) | Esineb 2 haiguses |
| VDRvitamin D receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Sageli (30–79%) | Esineb 1 haiguses |
| BTKBruton tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Sageli (30–79%) | Esineb 1 haiguses |
| CAMKMTcalmodulin-lysine N-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CLDN16claudin 16 | Sageli (30–79%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| GATA3GATA binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GEMIN4gem nuclear organelle associated protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Sageli (30–79%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Sageli (30–79%) | Esineb 1 haiguses |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Sageli (30–79%) | Esineb 1 haiguses |
| PREPLprolyl endopeptidase like | Sageli (30–79%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Sageli (30–79%) | Esineb 1 haiguses |
| SLC3A1solute carrier family 3 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 3 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Sageli (30–79%) | Esineb 3 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 43 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| USP53ubiquitin specific peptidase 53 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Mõnikord (5–29%) | Esineb 3 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR2DiGeorge syndrome critical region gene 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR6DiGeorge syndrome critical region gene 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR8DGCR8 microprocessor complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ESS2ess-2 spliceosome associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP3forkhead box P3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL36RNinterleukin 36 receptor antagonist | Mõnikord (5–29%) | Esineb 1 haiguses |
| IVDisovaleryl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LPIN1lipin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mõnikord (5–29%) | Esineb 1 haiguses |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Mõnikord (5–29%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC12A3solute carrier family 12 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX10sorting nexin 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACADVLacyl-CoA dehydrogenase very long chain | Harva (1–4%) | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Harva (1–4%) | Esineb 1 haiguses |
| FGF23fibroblast growth factor 23 | Harva (1–4%) | Esineb 1 haiguses |
| CAV1caveolin 1 | Pole registreeritud | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Pole registreeritud | Esineb 1 haiguses |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Pole registreeritud | Esineb 1 haiguses |
| GNAS-AS1GNAS antisense RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Pole registreeritud | Esineb 1 haiguses |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Pole registreeritud | Esineb 1 haiguses |
| PLVAPplasmalemma vesicle associated protein | Pole registreeritud | Esineb 1 haiguses |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Pole registreeritud | Esineb 1 haiguses |
| UBR1ubiquitin protein ligase E3 component n-recognin 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