Požymis
Increased calcium level in kidney
Klinikinis pavadinimas: Nephrocalcinosis
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Santrauka
- Taip pat vadinama
- Too much calcium deposited in kidneys
- Kūno sistema
- Abnormality of the genitourinary system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Increased calcium level in kidney. 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 |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Visada | 2 ligose |
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| CLCN5Cl-/H+ antiporter 5 | Visada | 4 ligose |
| CLDN16claudin 16 | Visada | 1 ligoje |
| CLDN19claudin 19 | Visada | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Visada | 1 ligoje |
| SLC34A1solute carrier family 34 member 1 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Visada | 1 ligoje |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Labai dažnai (80–99%) | 1 ligoje |
| CDC73cell division cycle 73 | Labai dažnai (80–99%) | 3 ligose |
| CLPBClpB family mitochondrial disaggregase | Labai dažnai (80–99%) | 1 ligoje |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Labai dažnai (80–99%) | 2 ligose |
| GCM2GCM transcription factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| GRHPRglyoxylate and hydroxypyruvate reductase | Labai dažnai (80–99%) | 2 ligose |
| HOGA14-hydroxy-2-oxoglutarate aldolase 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Labai dažnai (80–99%) | 1 ligoje |
| MEN1menin 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC12A1solute carrier family 12 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Dažnai (30–79%) | 3 ligose |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| CASRcalcium sensing receptor | Dažnai (30–79%) | 2 ligose |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Dažnai (30–79%) | 2 ligose |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Dažnai (30–79%) | 1 ligoje |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MYO5Bmyosin VB | Dažnai (30–79%) | 1 ligoje |
| OXGR1oxoglutarate receptor 1 | Dažnai (30–79%) | 1 ligoje |
| PHEXphosphate regulating endopeptidase X-linked | Dažnai (30–79%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Dažnai (30–79%) | 2 ligose |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PTHparathyroid hormone | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 1 ligoje |
| RRAGDRas related GTP binding D | Dažnai (30–79%) | 2 ligose |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Dažnai (30–79%) | 2 ligose |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 57 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| STX3syntaxin 3 | Dažnai (30–79%) | 1 ligoje |
| TRNT1tRNA nucleotidyl transferase 1 | Dažnai (30–79%) | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Dažnai (30–79%) | 2 ligose |
| AIREautoimmune regulator | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Kartais (5–29%) | 1 ligoje |
| BTNL2butyrophilin like 2 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Kartais (5–29%) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Kartais (5–29%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 2 ligose |
| PTH1Rparathyroid hormone 1 receptor | Kartais (5–29%) | 2 ligose |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| SLC2A2solute carrier family 2 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 2 ligose |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 2 ligose |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Kartais (5–29%) | 2 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF687zinc finger protein 687 | Kartais (5–29%) | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| COL4A3collagen type IV alpha 3 chain | Neužfiksuota | 1 ligoje |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Neužfiksuota | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Neužfiksuota | 1 ligoje |
| FAHfumarylacetoacetate hydrolase | Neužfiksuota | 1 ligoje |
| GALNT3polypeptide N-acetylgalactosaminyltransferase 3 | Neužfiksuota | 1 ligoje |
| GATA3GATA binding protein 3 | Neužfiksuota | 1 ligoje |
| HNF4Ahepatocyte nuclear factor 4 alpha | Neužfiksuota | 1 ligoje |
| IGF2insulin like growth factor 2 | Neužfiksuota | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Neužfiksuota | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Neužfiksuota | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | 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.
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- 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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