Tunnus
Elevated urine calcium levels
Kliiniline nimetus: Hypercalciuria
Kokkuvõte
- Teised nimetused
- Hypercalcinuria
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Elevated urine calcium levels, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test66 geeni on seotud tunnusega Elevated urine calcium levels
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Elevated urine calcium levels. 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 |
|---|---|---|
| ADCY10adenylate cyclase 10 | Alati | Esineb 2 haiguses |
| CLDN19claudin 19 | Alati | Esineb 1 haiguses |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Alati | Esineb 1 haiguses |
| FGF23fibroblast growth factor 23 | Alati | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Alati | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Alati | Esineb 2 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| SLC12A1solute carrier family 12 member 1 | Alati | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 1 | Alati | Esineb 5 haiguses |
| SLC34A3solute carrier family 34 member 3 | Alati | Esineb 2 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Alati | Esineb 1 haiguses |
| CASRcalcium sensing receptor | Väga sageli (80–99%) | Esineb 4 haiguses |
| CDC73cell division cycle 73 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLDN16claudin 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GCM2GCM transcription factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GNA11G protein subunit alpha 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEN1menin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RRAGDRas related GTP binding D | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Sageli (30–79%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| BSNDbarttin CLCNK type accessory subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sageli (30–79%) | Esineb 1 haiguses |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Sageli (30–79%) | Esineb 1 haiguses |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Sageli (30–79%) | Esineb 1 haiguses |
| CLCN5Cl-/H+ antiporter 5 | Sageli (30–79%) | Esineb 4 haiguses |
| CLCNKAchloride voltage-gated channel Ka | Sageli (30–79%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Sageli (30–79%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 2 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HNF1BHNF1 homeobox B | Sageli (30–79%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 26 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NCF1neutrophil cytosolic factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Sageli (30–79%) | Esineb 2 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| RFC2replication factor C subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A2solute carrier family 2 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Sageli (30–79%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Sageli (30–79%) | Esineb 1 haiguses |
| BTNL2butyrophilin like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATMglycine amidinotransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC22A12solute carrier family 22 member 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A9solute carrier family 2 member 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ATP7BATPase copper transporting beta | Pole registreeritud | Esineb 1 haiguses |
| CFTRCF transmembrane conductance regulator | Pole registreeritud | Esineb 1 haiguses |
| FCGR2AFc gamma receptor IIa | Pole registreeritud | Esineb 1 haiguses |
| MAGED2MAGE family member D2 | Pole registreeritud | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Pole registreeritud | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | 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.
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