Cecha
Abnormal urinary amino-acid findings
Nazwa kliniczna: Aminoaciduria
An increased concentration of an amino acid in the urine.
Podsumowanie
- Znana także jako
- High urine amino acid levels, Increased levels of animo acids in urine, Hyperaminoaciduria
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page$trait$nameOdczytaj geny powiązane z Abnormal urinary amino-acid findings oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test45 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 3 of these genesGATMEHHADHHNF4AAbout this report →
- Primary Mitochondrial DiseaseReads 17 of these genesBCS1LNFS1PET100SUCLA2COA8FARS2About this report →
- Dent Disease and Lowe SyndromeReads 2 of these genesOCRLCLCN5About this report →
- Urea Cycle DisorderReads 4 of these genesASLCPS1OTCSLC7A7About this report →
Show 41 more reports
- Leigh SyndromeReads 9 of these genesPET100SUCLA2FARS2COX10HIBCHNDUFAF6About this report →
- DNA Repair DiseaseReads 7 of these genesDDB2ERCC2ERCC3ERCC4ERCC5XPAAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 16 of these genesFDXRMARS1PET100SUCLA2OATFARS2About this report →
- GalactosemiaReads 2 of these genesGALEGALTAbout this report →
- AlkaptonuriaReads 1 of these genesHGDAbout this report →
- ARC Syndrome 1 (VPS33B)Reads 1 of these genesVPS33BAbout this report →
- ARC Syndrome 2 (VIPAS39)Reads 1 of these genesVIPAS39About this report →
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Gyrate Atrophy of the Choroid and RetinaReads 1 of these genesOATAbout this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- HIBCH DeficiencyReads 1 of these genesHIBCHAbout this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesNEU1NAGAAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesUMPSAbout this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGATMAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7BAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX1PEX5About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- PancreatitisReads 1 of these genesTRPV6About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Lysosomal Storage DiseaseReads 3 of these genesCTNSNEU1NAGAAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesERCC2ERCC5About this report →
- Hyper-IgE SyndromeReads 1 of these genesSPINK5About this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesCASRAbout this report →
- Thyroid CancerReads 2 of these genesCASRTRPV6About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesTRNT1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesGCLCAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesMARS1SCO2SURF1About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPV6About this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesHNF4AAbout this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPEX1PEX5About this report →
- Diabetes MellitusReads 1 of these genesHNF4AAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGALEAbout this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesFARS2PEX1PEX5About this report →
- Female InfertilityReads 1 of these genesGALTAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesFARS2About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC35A1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesSPINK5About this report →
Odczytaj geny powiązane z Abnormal urinary amino-acid findings oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test66 genów powiązanych z Abnormal urinary amino-acid findings
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormal urinary amino-acid findings. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Zawsze | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Zawsze | W 2 chorobach |
| CTNScystinosin, lysosomal cystine transporter | Zawsze | W 3 chorobach |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| GATMglycine amidinotransferase | Zawsze | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| NFS1NFS1 cysteine desulfurase | Zawsze | W 1 chorobie |
| PET100PET100 cytochrome c oxidase chaperone | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| SPINK5serine peptidase inhibitor Kazal type 5 | Zawsze | W 2 chorobach |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Zawsze | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Zawsze | W 1 chorobie |
| ASLargininosuccinate lyase | Bardzo często (80–99%) | W 2 chorobach |
| CASRcalcium sensing receptor | Bardzo często (80–99%) | W 2 chorobach |
| CPS1carbamoyl-phosphate synthase 1 | Bardzo często (80–99%) | W 1 chorobie |
| GCLCglutamate-cysteine ligase catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| HGDhomogentisate 1,2-dioxygenase | Bardzo często (80–99%) | W 1 chorobie |
| NEU1neuraminidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Bardzo często (80–99%) | W 3 chorobach |
| OTCornithine transcarbamylase | Bardzo często (80–99%) | W 1 chorobie |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Bardzo często (80–99%) | W 2 chorobach |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Bardzo często (80–99%) | W 1 chorobie |
| UMPSuridine monophosphate synthetase | Bardzo często (80–99%) | W 1 chorobie |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| OATornithine aminotransferase | Często (30–79%) | W 1 chorobie |
| TRNT1tRNA nucleotidyl transferase 1 | Często (30–79%) | W 1 chorobie |
| ATP7BATPase copper transporting beta | Czasami (5–29%) | W 2 chorobach |
| DDB2damage specific DNA binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Czasami (5–29%) | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| FOCADfocadhesin | Czasami (5–29%) | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Czasami (5–29%) | W 1 chorobie |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Czasami (5–29%) | W 1 chorobie |
| CLCN5Cl-/H+ antiporter 5 | Nie odnotowano | W 2 chorobach |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Nie odnotowano | W 1 chorobie |
| COX15cytochrome c oxidase assembly factor COX15 | Nie odnotowano | W 1 chorobie |
Pokaż jeszcze 26 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| COX6B1cytochrome c oxidase subunit 6B1 | Nie odnotowano | W 1 chorobie |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Nie odnotowano | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Nie odnotowano | W 1 chorobie |
| FHfumarate hydratase | Nie odnotowano | W 1 chorobie |
| FTCDformimidoyltransferase cyclodeaminase | Nie odnotowano | W 1 chorobie |
| GALEUDP-galactose-4-epimerase | Nie odnotowano | W 1 chorobie |
| GALTgalactose-1-phosphate uridylyltransferase | Nie odnotowano | W 1 chorobie |
| GLYCTKglycerate kinase | Nie odnotowano | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Nie odnotowano | W 1 chorobie |
| HNF4Ahepatocyte nuclear factor 4 alpha | Nie odnotowano | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Nie odnotowano | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nie odnotowano | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Nie odnotowano | W 1 chorobie |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Nie odnotowano | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Nie odnotowano | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Nie odnotowano | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nie odnotowano | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Nie odnotowano | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Nie odnotowano | W 1 chorobie |
| SLC19A2solute carrier family 19 member 2 | Nie odnotowano | W 1 chorobie |
| SLC1A1solute carrier family 1 member 1 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Nie odnotowano | W 1 chorobie |
| SURF1SURF1 cytochrome c oxidase assembly factor | Nie odnotowano | W 1 chorobie |
| TACO1translational activator of cytochrome c oxidase I | Nie odnotowano | W 1 chorobie |
| TK2thymidine kinase 2 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.19-9814e911.
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