Tunnus
Increased calcium level in kidney
Kliiniline nimetus: Nephrocalcinosis
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Kokkuvõte
- Teised nimetused
- Too much calcium deposited in kidneys
- Kehasüsteem
- Abnormality of the genitourinary system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Increased calcium level in kidney, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test97 geeni on seotud tunnusega Increased calcium level in kidney
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Increased calcium level in kidney. 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 |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Alati | Esineb 2 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Alati | Esineb 1 haiguses |
| CLCN5Cl-/H+ antiporter 5 | Alati | Esineb 4 haiguses |
| CLDN16claudin 16 | Alati | Esineb 1 haiguses |
| CLDN19claudin 19 | Alati | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Alati | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 1 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TRA2Btransformer 2 beta homolog | Alati | Esineb 1 haiguses |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDC73cell division cycle 73 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CLPBClpB family mitochondrial disaggregase | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| GCM2GCM transcription factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GRHPRglyoxylate and hydroxypyruvate reductase | Väga sageli (80–99%) | Esineb 2 haiguses |
| HOGA14-hydroxy-2-oxoglutarate aldolase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEN1menin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC12A1solute carrier family 12 member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC6ATP binding cassette subfamily C member 6 | Sageli (30–79%) | Esineb 3 haiguses |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| CASRcalcium sensing receptor | Sageli (30–79%) | Esineb 2 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FUT8fucosyltransferase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| GEMIN4gem nuclear organelle associated protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GNA11G protein subunit alpha 11 | Sageli (30–79%) | Esineb 1 haiguses |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYO5Bmyosin VB | Sageli (30–79%) | Esineb 1 haiguses |
| OXGR1oxoglutarate receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PHEXphosphate regulating endopeptidase X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sageli (30–79%) | Esineb 2 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PTHparathyroid hormone | Sageli (30–79%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RRAGDRas related GTP binding D | Sageli (30–79%) | Esineb 2 haiguses |
| SLC1A2solute carrier family 1 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Sageli (30–79%) | Esineb 2 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 57 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| STX3syntaxin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TRNT1tRNA nucleotidyl transferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33BVPS33B late endosome and lysosome associated | Sageli (30–79%) | Esineb 2 haiguses |
| AIREautoimmune regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 2 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEFVMEFV innate immunity regulator, pyrin | Mõnikord (5–29%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 2 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| RFC2replication factor C subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A2solute carrier family 2 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| STRADASTE20 related adaptor alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Mõnikord (5–29%) | Esineb 2 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF687zinc finger protein 687 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Pole registreeritud | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Pole registreeritud | Esineb 1 haiguses |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Pole registreeritud | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Pole registreeritud | Esineb 1 haiguses |
| FAHfumarylacetoacetate hydrolase | Pole registreeritud | Esineb 1 haiguses |
| GALNT3polypeptide N-acetylgalactosaminyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| GATA3GATA binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| HNF4Ahepatocyte nuclear factor 4 alpha | Pole registreeritud | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Pole registreeritud | Esineb 1 haiguses |
| SBDSSBDS ribosome maturation factor | Pole registreeritud | Esineb 1 haiguses |
| SRP54signal recognition particle 54 | 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.
Kitsamad tunnused
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