Požymis
Low blood calcium levels
Klinikinis pavadinimas: Hypocalcemia
The concentration of calcium in the blood circulation is below the lower limit of normal.
Santrauka
- Taip pat vadinama
- 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
- Kūno sistema
- Laboratory abnormality
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test83 genų susiję su Low blood calcium levels
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Low blood calcium levels. 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 |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Visada | 1 ligoje |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Visada | 1 ligoje |
| CASRcalcium sensing receptor | Visada | 2 ligose |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Visada | 2 ligose |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Visada | 2 ligose |
| FAM111AFAM111 trypsin like peptidase A | Visada | 2 ligose |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| GCM2GCM transcription factor 2 | Visada | 2 ligose |
| GNA11G protein subunit alpha 11 | Visada | 2 ligose |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Visada | 1 ligoje |
| PTHparathyroid hormone | Visada | 1 ligoje |
| TBCEtubulin folding cofactor E | Visada | 4 ligose |
| TRPM6transient receptor potential cation channel subfamily M member 6 | Visada | 1 ligoje |
| GNASGNAS complex locus | Labai dažnai (80–99%) | 6 ligose |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Labai dažnai (80–99%) | 1 ligoje |
| RRAGDRas related GTP binding D | Labai dažnai (80–99%) | 2 ligose |
| STX16syntaxin 16 | Labai dažnai (80–99%) | 2 ligose |
| VDRvitamin D receptor | Labai dažnai (80–99%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| BTKBruton tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Dažnai (30–79%) | 1 ligoje |
| CAMKMTcalmodulin-lysine N-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CLDN16claudin 16 | Dažnai (30–79%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| GATA3GATA binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Dažnai (30–79%) | 1 ligoje |
| PREPLprolyl endopeptidase like | Dažnai (30–79%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SLC3A1solute carrier family 3 member 1 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 3 ligose |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Dažnai (30–79%) | 3 ligose |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 43 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| USP53ubiquitin specific peptidase 53 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Kartais (5–29%) | 3 ligose |
| CLCNKBchloride voltage-gated channel Kb | Kartais (5–29%) | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Kartais (5–29%) | 1 ligoje |
| DGCR2DiGeorge syndrome critical region gene 2 | Kartais (5–29%) | 1 ligoje |
| DGCR6DiGeorge syndrome critical region gene 6 | Kartais (5–29%) | 1 ligoje |
| DGCR8DGCR8 microprocessor complex subunit | Kartais (5–29%) | 1 ligoje |
| ESS2ess-2 spliceosome associated protein | Kartais (5–29%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXP3forkhead box P3 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| IL36RNinterleukin 36 receptor antagonist | Kartais (5–29%) | 1 ligoje |
| IVDisovaleryl-CoA dehydrogenase | Kartais (5–29%) | 1 ligoje |
| LPIN1lipin 1 | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Kartais (5–29%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Kartais (5–29%) | 2 ligose |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Kartais (5–29%) | 2 ligose |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SLC12A3solute carrier family 12 member 3 | Kartais (5–29%) | 1 ligoje |
| SNX10sorting nexin 10 | Kartais (5–29%) | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Kartais (5–29%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Retai (1–4 %) | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Retai (1–4 %) | 1 ligoje |
| FGF23fibroblast growth factor 23 | Retai (1–4 %) | 1 ligoje |
| CAV1caveolin 1 | Neužfiksuota | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Neužfiksuota | 1 ligoje |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Neužfiksuota | 1 ligoje |
| GNAS-AS1GNAS antisense RNA 1 | Neužfiksuota | 1 ligoje |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Neužfiksuota | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Neužfiksuota | 1 ligoje |
| IFT122intraflagellar transport 122 | Neužfiksuota | 1 ligoje |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Neužfiksuota | 1 ligoje |
| PLVAPplasmalemma vesicle associated protein | Neužfiksuota | 1 ligoje |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Neužfiksuota | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | 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.
Platesni požymiai
Iš kur tai žinoma
- 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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