Træk
Low blood calcium levels
Klinisk navn: Hypocalcemia
The concentration of calcium in the blood circulation is below the lower limit of normal.
Resumé
- Også kaldet
- 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
- Kropssystem
- Laboratory abnormality
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test83 gener knyttet til Low blood calcium levels
Ændringer i disse gener forårsager sjældne tilstande, hvor Low blood calcium levels ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altid | I 1 tilstand |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Altid | I 1 tilstand |
| CASRcalcium sensing receptor | Altid | I 2 tilstande |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Altid | I 2 tilstande |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Altid | I 2 tilstande |
| FAM111AFAM111 trypsin like peptidase A | Altid | I 2 tilstande |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| GCM2GCM transcription factor 2 | Altid | I 2 tilstande |
| GNA11G protein subunit alpha 11 | Altid | I 2 tilstande |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Altid | I 1 tilstand |
| PTHparathyroid hormone | Altid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Altid | I 4 tilstande |
| TRPM6transient receptor potential cation channel subfamily M member 6 | Altid | I 1 tilstand |
| GNASGNAS complex locus | Meget ofte (80–99 %) | I 6 tilstande |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| RRAGDRas related GTP binding D | Meget ofte (80–99 %) | I 2 tilstande |
| STX16syntaxin 16 | Meget ofte (80–99 %) | I 2 tilstande |
| VDRvitamin D receptor | Meget ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| BTKBruton tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ofte (30–79 %) | I 1 tilstand |
| CAMKMTcalmodulin-lysine N-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CLDN16claudin 16 | Ofte (30–79 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| GATA3GATA binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Ofte (30–79 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Ofte (30–79 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 3 tilstande |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Ofte (30–79 %) | I 3 tilstande |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
Vis 43 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| USP53ubiquitin specific peptidase 53 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Nogle gange (5–29 %) | I 3 tilstande |
| CLCNKBchloride voltage-gated channel Kb | Nogle gange (5–29 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP3forkhead box P3 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IL36RNinterleukin 36 receptor antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| LPIN1lipin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Nogle gange (5–29 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Nogle gange (5–29 %) | I 2 tilstande |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SNX10sorting nexin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| TNFSF11TNF superfamily member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Sjældent (1–4%) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Sjældent (1–4%) | I 1 tilstand |
| FGF23fibroblast growth factor 23 | Sjældent (1–4%) | I 1 tilstand |
| CAV1caveolin 1 | Ikke registreret | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ikke registreret | I 1 tilstand |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Ikke registreret | I 1 tilstand |
| GNAS-AS1GNAS antisense RNA 1 | Ikke registreret | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registreret | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registreret | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ikke registreret | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Ikke registreret | I 1 tilstand |
| PLVAPplasmalemma vesicle associated protein | Ikke registreret | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ikke registreret | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger