AtlasCecha
Abnormal function of filtrating structures in kidney
Nazwa kliniczna: Renal tubular dysfunction
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Podsumowanie
- Znana także jako
- Renal tubular defect
- Układ organizmu
- Abnormality of the genitourinary system
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library(jsonlite)
url <- "https://dantelabs.com/traits/renal-tubular-dysfunction.json"
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page$trait$nameOdczytaj geny powiązane z Abnormal function of filtrating structures in kidney oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test36 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.
- Maturity-Onset Diabetes Of The YoungReads 5 of these genesABCC8GCKINSKCNJ11PDX1About this report →
- Neonatal Diabetes MellitusReads 6 of these genesABCC8GCKINSKCNJ11PDX1SLC2A2About this report →
- Diabetes MellitusReads 6 of these genesABCC8GCKINSKCNJ11PDX1SLC2A2About this report →
- Fanconi Renotubular Syndrome and Renal GlucosuriaReads 2 of these genesSLC5A2GATMAbout this report →
Show 32 more reports
- ARC Syndrome 1 (VPS33B)Reads 1 of these genesVPS33BAbout this report →
- ARC Syndrome 2 (VIPAS39)Reads 1 of these genesVIPAS39About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- PDX1-Related Pancreatic AgenesisReads 1 of these genesPDX1About this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- HyperinsulinismReads 3 of these genesABCC8GCKKCNJ11About this report →
- Primary Mitochondrial DiseaseReads 10 of these genesCOA8TRMT5COX10COX15COX6B1FASTKD2About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 2 of these genesPHEXSLC34A3About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 1 of these genesSTAT3About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGATMAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7BAbout this report →
- Familial Periodic ParalysisReads 1 of these genesKCNJ2About this report →
- Familial Atrial FibrillationReads 1 of these genesKCNJ2About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNJ2About this report →
- Leigh SyndromeReads 4 of these genesCOX10SCO2SURF1TACO1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesIARS2COX10PEX19SCO2SURF1TACO1About this report →
- Hyper-IgE SyndromeReads 1 of these genesSTAT3About this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- Urea Cycle DisorderReads 1 of these genesSLC7A7About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMUTAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX19About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC2A2About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesKCNJ5About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesSCO2SURF1About this report →
- Autoimmune DiseaseReads 1 of these genesSTAT3About this report →
- Thyroid CancerReads 1 of these genesGNASAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesCTNSAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX19About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesSTAT3About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesPEX19About this report →
Odczytaj geny powiązane z Abnormal function of filtrating structures in kidney oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test34 genów powiązanych z Abnormal function of filtrating structures in kidney
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormal function of filtrating structures in kidney. 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 |
|---|---|---|
| SLC5A2solute carrier family 5 member 2 | Zawsze | W 1 chorobie |
| CTNScystinosin, lysosomal cystine transporter | Bardzo często (80–99%) | W 1 chorobie |
| COA8cytochrome c oxidase assembly factor 8 | Często (30–79%) | W 1 chorobie |
| GNASGNAS complex locus | Często (30–79%) | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Często (30–79%) | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Często (30–79%) | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Często (30–79%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| GCKglucokinase | Czasami (5–29%) | W 1 chorobie |
| INSinsulin | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| MMUTmethylmalonyl-CoA mutase | Czasami (5–29%) | W 1 chorobie |
| PDX1pancreatic and duodenal homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Rzadko (1–4%) | W 1 chorobie |
| ATP7BATPase copper transporting beta | Nie odnotowano | W 1 chorobie |
| 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 |
| COX6B1cytochrome c oxidase subunit 6B1 | Nie odnotowano | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Nie odnotowano | W 1 chorobie |
| GATMglycine amidinotransferase | 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 |
| PEX19peroxisomal biogenesis factor 19 | Nie odnotowano | W 1 chorobie |
| PHEXphosphate regulating endopeptidase X-linked | 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 |
| SLC2A2solute carrier family 2 member 2 | Nie odnotowano | W 1 chorobie |
| SLC34A3solute carrier family 34 member 3 | 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 |
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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