Kenmerk
Kidney stone
Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae.
Samenvatting
- Ook bekend als
- Kidney stones, Nephrolithiasis, Renal calculi, Renal stones
- Lichaamssysteem
- Abnormality of the genitourinary system
ReferentiegenoomGRCh38hg38
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Mijn Genome Test bestellen132 genen gekoppeld aan Kidney stone
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Kidney stone voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| APRTadenine phosphoribosyltransferase | Altijd | In 2 aandoeningen |
| CLDN2claudin 2 | Altijd | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Altijd | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altijd | In 1 aandoening |
| HOXA13homeobox A13 | Altijd | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Altijd | In 1 aandoening |
| MYL9myosin light chain 9 | Altijd | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SERPINH1serpin family H member 1 | Altijd | In 1 aandoening |
| SLC26A1solute carrier family 26 member 1 | Altijd | In 1 aandoening |
| AGXTalanine--glyoxylate aminotransferase | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1B1ATPase H+ transporting V1 subunit B1 | Heel vaak (80–99%) | In 1 aandoening |
| CAMKMTcalmodulin-lysine N-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CLDN19claudin 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| GRHPRglyoxylate and hydroxypyruvate reductase | Heel vaak (80–99%) | In 1 aandoening |
| HNF1BHNF1 homeobox B | Heel vaak (80–99%) | In 2 aandoeningen |
| PLCD1phospholipase C delta 1 | Heel vaak (80–99%) | In 1 aandoening |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Heel vaak (80–99%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC3A1solute carrier family 3 member 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| ADAMTSL1ADAMTS like 1 | Vaak (30–79%) | In 1 aandoening |
| ARMC5armadillo repeat containing 5 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Vaak (30–79%) | In 2 aandoeningen |
| CDC73cell division cycle 73 | Vaak (30–79%) | In 3 aandoeningen |
| CLCN5Cl-/H+ antiporter 5 | Vaak (30–79%) | In 3 aandoeningen |
| CLDN10claudin 10 | Vaak (30–79%) | In 1 aandoening |
| GNASGNAS complex locus | Vaak (30–79%) | In 1 aandoening |
| HGDhomogentisate 1,2-dioxygenase | Vaak (30–79%) | In 2 aandoeningen |
| KDM1Alysine demethylase 1A | Vaak (30–79%) | In 1 aandoening |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Vaak (30–79%) | In 1 aandoening |
| OXGR1oxoglutarate receptor 1 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 1 aandoening |
| SLC1A1solute carrier family 1 member 1 | Vaak (30–79%) | In 2 aandoeningen |
| SLC34A1solute carrier family 34 member 1 | Vaak (30–79%) | In 2 aandoeningen |
| SLC34A3solute carrier family 34 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Vaak (30–79%) | In 1 aandoening |
| VDRvitamin D receptor | Vaak (30–79%) | In 1 aandoening |
| ACVR1activin A receptor type 1 | Soms (5–29%) | In 1 aandoening |
Toon nog 92 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ANTXR1ANTXR cell adhesion molecule 1 | Soms (5–29%) | In 1 aandoening |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Soms (5–29%) | In 1 aandoening |
| ARSKarylsulfatase family member K | Soms (5–29%) | In 1 aandoening |
| ATP7BATPase copper transporting beta | Soms (5–29%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CASRcalcium sensing receptor | Soms (5–29%) | In 2 aandoeningen |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Soms (5–29%) | In 1 aandoening |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Soms (5–29%) | In 1 aandoening |
| CHKAcholine kinase alpha | Soms (5–29%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Soms (5–29%) | In 1 aandoening |
| CLDN16claudin 16 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| COQ6coenzyme Q6, monooxygenase | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 2 aandoeningen |
| CTHcystathionine gamma-lyase | Soms (5–29%) | In 1 aandoening |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| GCM2GCM transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| GINS3GINS complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KRT17keratin 17 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| MEN1menin 1 | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Soms (5–29%) | In 1 aandoening |
| MOCOSmolybdenum cofactor sulfurase | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Soms (5–29%) | In 1 aandoening |
| PAX2paired box 2 | Soms (5–29%) | In 1 aandoening |
| PHEXphosphate regulating endopeptidase X-linked | Soms (5–29%) | In 1 aandoening |
| PIDD1p53-induced death domain protein 1 | Soms (5–29%) | In 1 aandoening |
| PLGplasminogen | Soms (5–29%) | In 2 aandoeningen |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| SLC2A9solute carrier family 2 member 9 | Soms (5–29%) | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Soms (5–29%) | In 2 aandoeningen |
| SLC5A1solute carrier family 5 member 1 | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 2 aandoeningen |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| CEACAM3CEA cell adhesion molecule 3 | Zelden (1–4%) | In 1 aandoening |
| CEACAM6CEA cell adhesion molecule 6 | Zelden (1–4%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Zelden (1–4%) | In 1 aandoening |
| CLCA4chloride channel accessory 4 | Zelden (1–4%) | In 1 aandoening |
| DCTN4dynactin subunit 4 | Zelden (1–4%) | In 1 aandoening |
| EDNRAendothelin receptor type A | Zelden (1–4%) | In 1 aandoening |
| GCLCglutamate-cysteine ligase catalytic subunit | Zelden (1–4%) | In 1 aandoening |
| GSTM3glutathione S-transferase mu 3 | Zelden (1–4%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Zelden (1–4%) | In 1 aandoening |
| HMOX1heme oxygenase 1 | Zelden (1–4%) | In 1 aandoening |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Zelden (1–4%) | In 1 aandoening |
| MIFmacrophage migration inhibitory factor | Zelden (1–4%) | In 1 aandoening |
| SERPINA1serpin family A member 1 | Zelden (1–4%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SLC11A1solute carrier family 11 member 1 | Zelden (1–4%) | In 1 aandoening |
| SLC26A9solute carrier family 26 member 9 | Zelden (1–4%) | In 1 aandoening |
| SLC6A14solute carrier family 6 member 14 | Zelden (1–4%) | In 1 aandoening |
| SLC9A3solute carrier family 9 member A3 | Zelden (1–4%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Zelden (1–4%) | In 1 aandoening |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Niet vastgelegd | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Niet vastgelegd | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Niet vastgelegd | In 1 aandoening |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Niet vastgelegd | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Niet vastgelegd | In 2 aandoeningen |
| IGF2insulin like growth factor 2 | Niet vastgelegd | In 1 aandoening |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Niet vastgelegd | In 1 aandoening |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Niet vastgelegd | In 1 aandoening |
| NHERF1NHERF family PDZ scaffold protein 1 | Niet vastgelegd | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Niet vastgelegd | In 1 aandoening |
| SIsucrase-isomaltase | Niet vastgelegd | In 1 aandoening |
| SLC7A9solute carrier family 7 member 9 | Niet vastgelegd | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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