Tunnus
Increased blood alanine
Kliiniline nimetus: Hyperalaninemia
An increased concentration of alanine in the blood.
Kokkuvõte
- Teised nimetused
- Increased serum alanine
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Increased blood alanine, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test71 geeni on seotud tunnusega Increased blood alanine
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Increased blood alanine. 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 |
|---|---|---|
| ATP5F1AATP synthase F1 subunit alpha | Alati | Esineb 3 haiguses |
| CA5Acarbonic anhydrase 5A | Alati | Esineb 1 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| COX8Acytochrome c oxidase subunit 8A | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| LIPT2lipoyl(octanoyl) transferase 2 | Alati | Esineb 1 haiguses |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alati | Esineb 1 haiguses |
| MIPEPmitochondrial intermediate peptidase | Alati | Esineb 1 haiguses |
| MRPS14mitochondrial ribosomal protein S14 | Alati | Esineb 1 haiguses |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alati | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Alati | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alati | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alati | Esineb 1 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Alati | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Alati | Esineb 1 haiguses |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Alati | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Alati | Esineb 1 haiguses |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1DATP synthase F1 subunit delta | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1EATP synthase F1 subunit epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5MKATP synthase membrane subunit k | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sageli (30–79%) | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Sageli (30–79%) | Esineb 1 haiguses |
| COX16cytochrome c oxidase assembly factor COX16 | Sageli (30–79%) | Esineb 1 haiguses |
| COX5Acytochrome c oxidase subunit 5A | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| DTYMKdeoxythymidylate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPL3mitochondrial ribosomal protein L3 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPL39mitochondrial ribosomal protein L39 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPS2mitochondrial ribosomal protein S2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MTO1mitochondrial tRNA translation optimization 1 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 31 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NAGSN-acetylglutamate synthase | Sageli (30–79%) | Esineb 2 haiguses |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFS1NFS1 cysteine desulfurase | Sageli (30–79%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 1 haiguses |
| SERAC1serine active site containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Sageli (30–79%) | Esineb 1 haiguses |
| TYMPthymidine phosphorylase | Sageli (30–79%) | Esineb 1 haiguses |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBP1fructose-bisphosphatase 1 | Harva (1–4%) | Esineb 1 haiguses |
| COQ9coenzyme Q9 | Pole registreeritud | Esineb 1 haiguses |
| PCpyruvate carboxylase | Pole registreeritud | Esineb 1 haiguses |
| PDHXpyruvate dehydrogenase complex component X | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | 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