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Term:
renal tubular transport disease (DOID:447)
Annotations: Rat: (93) Mouse: (99) Human: (115) Chinchilla: (80) Bonobo: (86) Dog: (90) Squirrel: (84) Pig: (86)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
AIDS-Associated Nephropathy  
Alpha-Fetoprotein Deficiency  
Alsing Syndrome 
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
anuria +   
Arene Oxide Detoxification Defect 
Arnold Stickler Bourne Syndrome 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
atheroembolism of kidney 
Autoimmune Interstitial Lung, Joint, and Kidney Disease  
Bifid Nose with or without Anorectal And Renal Anomalies  
bilirubin metabolic disorder +   
Blue Diaper Syndrome 
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
CAKUT1  
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
CHITOTRIOSIDASE DEFICIENCY  
Chromate Resistance 
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
Complement Factor H Deficiency  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
cystic kidney disease +   
cytochrome-c oxidase deficiency disease +   
Deafness Hyperuricemia Neurologic Ataxia 
Defect in Hyaluronan Metabolism 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
diabetes insipidus +   
Diabetic Nephropathies  
Dimauro Disease  
dioctophymiasis 
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
Familial Hypokalemia 
familial juvenile hyperuricemic nephropathy +   
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Glomerular Diseases +   
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycerol kinase deficiency  
Glycoprotein Storage Disease  
Glyoxalase II Deficiency 
Goodpasture syndrome +   
Gordon Holmes syndrome  
granulomatosis with polyangiitis +   
Greenberg dysplasia  
Hantavirus hemorrhagic fever with renal syndrome +   
Hereditary Hyperbilirubinemia +   
Herrmann Syndrome 
Hydranencephaly with Renal Aplasia-Dysplasia  
hydronephrosis +   
Hypercalcemia, Infantile, 1  
Hyperoxaluria +   
Hypoadiponectinemia  
hypophosphatemic nephrolithiasis/osteoporosis +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
immunodeficiency 43  
Infundibulopelvic Dysgenesis 
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Jejunal Atresia with Renal Adysplasia 
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 9  
Kallikrein, Decreased Urinary Activity of  
kidney cortex disease +  
kidney failure +   
kidney hypertrophy 
Kidney Neoplasms +   
kidney papillary necrosis 
Lachiewicz Sibley Syndrome 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
Lipoprotein Glomerulopathy  
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus  
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
nephritis +   
nephrocalcinosis +   
nephrogenic diabetes insipidus +   
nephrolithiasis +   
nephronophthisis-like nephropathy 1  
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrosclerosis +   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
obstructive nephropathy  
orthostatic proteinuria 
overhydrated hereditary stomatocytosis  
perinephritis 
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
progeria +   
Proguanil, Poor Metabolism of  
proteinuria +   
purine-pyrimidine metabolic disorder +   
pyelitis +   
pyrimidine metabolic disorder +   
Radiation Nephropathy  
Radio Renal Syndrome 
renal agenesis +   
renal artery disease +   
renal artery obstruction +   
Renal Dysplasia - Limb Defects Syndrome 
renal fibrosis +   
renal hypertension +   
renal hypoplasia +   
renal infectious disease 
Renal Ischemia  
Renal Nutcracker Syndrome 
renal osteodystrophy  
renal tuberculosis  
Renal Tubular Dysgenesis  
renal tubular transport disease +   
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
Retinol-Binding Protein Deficiency 
secondary hyperparathyroidism of renal origin 
SEDOHEPTULOKINASE DEFICIENCY  
Selig Benacerraf Greene Syndrome 
sepiapterin reductase deficiency  
Siegler Brewer Carey Syndrome 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
stricture or kinking of ureter 
Succinic Acidemia 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thyrocerebral-Retinal Syndrome 
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethylaminuria  
Trypsinogen Deficiency 
uremia +   
Uridine-Cytidineuria  
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity  
Webb-Dattani Syndrome  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Zellweger syndrome +   

Synonyms
Exact Synonyms: Kidney Tubular Transport, Inborn Error ;   Kidney Tubular Transport, Inborn Errors ;   Renal Tubular Transport Errors ;   Renal Tubular Transport, Inborn Error ;   Renal Tubular Transport, Inborn Errors ;   inborn renal tubular transport disorder
Primary IDs: MESH:D015499
Alternate IDs: RDO:0001805
Definition Sources: MESH:D015499

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.