Tunnus
High urine lactic acid levels
Kliiniline nimetus: Lacticaciduria
An increased concentration of lactic acid in the urine.
Kokkuvõte
- Teised nimetused
- Increased urine lactate
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to High urine lactic acid levels, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test38 geeni on seotud tunnusega High urine lactic acid levels
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb High urine lactic acid 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 |
|---|---|---|
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alati | Esineb 1 haiguses |
| CA5Acarbonic anhydrase 5A | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| LIPT1lipoyltransferase 1 | Alati | Esineb 1 haiguses |
| LYRM4LYR motif containing 4 | Alati | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alati | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Alati | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Alati | Esineb 2 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Alati | Esineb 1 haiguses |
| SLC25A21solute carrier family 25 member 21 | Alati | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alati | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Alati | Esineb 1 haiguses |
| TRMUtRNA mitochondrial 2-thiouridylase | Alati | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Sageli (30–79%) | Esineb 1 haiguses |
| NFS1NFS1 cysteine desulfurase | Sageli (30–79%) | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Sageli (30–79%) | Esineb 1 haiguses |
| GATMglycine amidinotransferase | Pole registreeritud | Esineb 1 haiguses |
| LDHDlactate dehydrogenase D | Pole registreeritud | Esineb 1 haiguses |
| PET117PET117 cytochrome c oxidase chaperone | 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