Egenskap
Kidney stone
Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae.
Sammendrag
- Også kalt
- Kidney stones, Nephrolithiasis, Renal calculi, Renal stones
- Kroppssystem
- Abnormality of the genitourinary system
ReferansegenomGRCh38hg38
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Få mitt Genome Test132 gener knyttet til Kidney stone
Endringer i disse genene forårsaker sjeldne tilstander der Kidney stone forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| APRTadenine phosphoribosyltransferase | Alltid | I 2 tilstander |
| CLDN2claudin 2 | Alltid | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Alltid | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Alltid | I 1 tilstand |
| HOXA13homeobox A13 | Alltid | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MYL9myosin light chain 9 | Alltid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SLC26A1solute carrier family 26 member 1 | Alltid | I 1 tilstand |
| AGXTalanine--glyoxylate aminotransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Svært ofte (80–99 %) | I 1 tilstand |
| CAMKMTcalmodulin-lysine N-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| CLDN19claudin 19 | Svært ofte (80–99 %) | I 2 tilstander |
| GRHPRglyoxylate and hydroxypyruvate reductase | Svært ofte (80–99 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Svært ofte (80–99 %) | I 2 tilstander |
| PLCD1phospholipase C delta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Svært ofte (80–99 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Svært ofte (80–99 %) | I 2 tilstander |
| SLC3A1solute carrier family 3 member 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 2 tilstander |
| CDC73cell division cycle 73 | Ofte (30–79 %) | I 3 tilstander |
| CLCN5Cl-/H+ antiporter 5 | Ofte (30–79 %) | I 3 tilstander |
| CLDN10claudin 10 | Ofte (30–79 %) | I 1 tilstand |
| GNASGNAS complex locus | Ofte (30–79 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Ofte (30–79 %) | I 2 tilstander |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| OXGR1oxoglutarate receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A1solute carrier family 1 member 1 | Ofte (30–79 %) | I 2 tilstander |
| SLC34A1solute carrier family 34 member 1 | Ofte (30–79 %) | I 2 tilstander |
| SLC34A3solute carrier family 34 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ofte (30–79 %) | I 1 tilstand |
| VDRvitamin D receptor | Ofte (30–79 %) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Noen ganger (5–29 %) | I 1 tilstand |
Vis 92 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ANTXR1ANTXR cell adhesion molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARSKarylsulfatase family member K | Noen ganger (5–29 %) | I 1 tilstand |
| ATP7BATPase copper transporting beta | Noen ganger (5–29 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Noen ganger (5–29 %) | I 2 tilstander |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Noen ganger (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Noen ganger (5–29 %) | I 1 tilstand |
| CLDN16claudin 16 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COQ6coenzyme Q6, monooxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| CTHcystathionine gamma-lyase | Noen ganger (5–29 %) | I 1 tilstand |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| GCM2GCM transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GINS3GINS complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KRT17keratin 17 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MOCOSmolybdenum cofactor sulfurase | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| PIDD1p53-induced death domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLGplasminogen | Noen ganger (5–29 %) | I 2 tilstander |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A9solute carrier family 2 member 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC5A1solute carrier family 5 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 2 tilstander |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| CEACAM3CEA cell adhesion molecule 3 | Sjelden (1–4%) | I 1 tilstand |
| CEACAM6CEA cell adhesion molecule 6 | Sjelden (1–4%) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Sjelden (1–4%) | I 1 tilstand |
| CLCA4chloride channel accessory 4 | Sjelden (1–4%) | I 1 tilstand |
| DCTN4dynactin subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| EDNRAendothelin receptor type A | Sjelden (1–4%) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Sjelden (1–4%) | I 1 tilstand |
| GSTM3glutathione S-transferase mu 3 | Sjelden (1–4%) | I 1 tilstand |
| HFEhomeostatic iron regulator | Sjelden (1–4%) | I 1 tilstand |
| HMOX1heme oxygenase 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Sjelden (1–4%) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Sjelden (1–4%) | I 1 tilstand |
| SERPINA1serpin family A member 1 | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC11A1solute carrier family 11 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC26A9solute carrier family 26 member 9 | Sjelden (1–4%) | I 1 tilstand |
| SLC6A14solute carrier family 6 member 14 | Sjelden (1–4%) | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Sjelden (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Sjelden (1–4%) | I 1 tilstand |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Ikke registrert | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registrert | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registrert | I 2 tilstander |
| IGF2insulin like growth factor 2 | Ikke registrert | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registrert | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registrert | I 1 tilstand |
| NHERF1NHERF family PDZ scaffold protein 1 | Ikke registrert | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Ikke registrert | I 1 tilstand |
| SIsucrase-isomaltase | Ikke registrert | I 1 tilstand |
| SLC7A9solute carrier family 7 member 9 | Ikke registrert | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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