Renal Tubular Transport, Inborn Errors [vrozené poruchy tubulárního transportu]

topical
36
Terms

ledviny - vrozené poruchy tubulárního transportu

 

Kidney Tubular Transport, Inborn Error
Kidney Tubular Transport, Inborn Errors
Renal Tubular Transport Errors
Renal Tubular Transport, Inborn Error

Persistent link   https://www.medvik.cz/link/D015499
Definition

Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.

Annotation
general or unspecified; prefer specifics; coordinate with specific metabolite /metab
DUI
D015499 MeSH Browser
CUI
M0023861
History note
65
Public note
65

Allowable subheadings

BL
blood 5
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 5
DI
diagnosis 13
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy 1
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 3
EH
ethnology 1
ET
etiology 2
GE
genetics 21
HI
history
IM
immunology
ME
metabolism 4
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 3
UR
urine 2
VE
veterinary
VI
virology

C Diseases
C12 Urogenital Diseases 6
C12.050 Female Urogenital Diseases and Pregnancy Complications 132
C12.050.351 Female Urogenital Diseases 153
C12.050.351.968 Urologic Diseases 834
C12.050.351.968.419 Kidney Diseases 3 060
C12.050.351.968.419.050 AIDS-Associated Nephropathy 5
C12.050.351.968.419.078 Anuria 74
C12.050.351.968.419.135 Diabetes Insipidus 173
C12.050.351.968.419.192 Diabetic Nephropathies 984
C12.050.351.968.419.291 Hepatorenal Syndrome 91
C12.050.351.968.419.307 Hydronephrosis 232
C12.050.351.968.419.313 Hyperoxaluria 23
C12.050.351.968.419.331 Hypertension, Renal 332
C12.050.351.968.419.393 Kidney Cortex Necrosis 10
C12.050.351.968.419.403 Kidney Diseases, Cystic 148
C12.050.351.968.419.473 Kidney Neoplasms 2 092
C12.050.351.968.419.493 Kidney Papillary Necrosis 12
C12.050.351.968.419.570 Nephritis 159
C12.050.351.968.419.590 Nephrocalcinosis 46
C12.050.351.968.419.600 Nephrolithiasis 254
C12.050.351.968.419.610 Nephrosclerosis 45
C12.050.351.968.419.630 Nephrosis 30
C12.050.351.968.419.685 Perinephritis 1
C12.050.351.968.419.775 Renal Artery Obstruction 183
C12.050.351.968.419.780 Renal Insufficiency 1 026
C12.050.351.968.419.787 Renal Nutcracker Syndrome 2
C12.050.351.968.419.795 Chronic Kidney Disease-Mineral and Bone Disorder 146
C12.050.351.968.419.815 Renal Tubular Transport, Inborn Errors 36
C12.050.351.968.419.815.093 Acidosis, Renal Tubular 59
C12.050.351.968.419.815.279 Bartter Syndrome 19
C12.050.351.968.419.815.364 Dent Disease 1
C12.050.351.968.419.815.450 Fanconi Syndrome 23
C12.050.351.968.419.815.491 Gitelman Syndrome 17
C12.050.351.968.419.815.532 Glycosuria, Renal 36
C12.050.351.968.419.815.647 Hypophosphatemia, Familial 12
C12.050.351.968.419.815.683 Liddle Syndrome 4
C12.050.351.968.419.815.720 Oculocerebrorenal Syndrome 9
C12.050.351.968.419.815.770 Pseudohypoaldosteronism 9
C12.050.351.968.419.815.885 Renal Aminoacidurias 27
C12.050.351.968.419.912 Tuberculosis, Renal 33
C12.050.351.968.419.936 Uremia 227
C12.050.351.968.419.978 Zellweger Syndrome 10
C12.200 Male Urogenital Diseases 200
C12.200.777 Urologic Diseases 834
C12.200.777.419 Kidney Diseases 3 060
C12.200.777.419.050 AIDS-Associated Nephropathy 5
C12.200.777.419.078 Anuria 74
C12.200.777.419.080 Chronic Kidney Disease-Mineral and Bone Disorder 146
C12.200.777.419.135 Diabetes Insipidus 173
C12.200.777.419.192 Diabetic Nephropathies 984
C12.200.777.419.291 Hepatorenal Syndrome 91
C12.200.777.419.307 Hydronephrosis 232
C12.200.777.419.313 Hyperoxaluria 23
C12.200.777.419.331 Hypertension, Renal 332
C12.200.777.419.393 Kidney Cortex Necrosis 10
C12.200.777.419.403 Kidney Diseases, Cystic 148
C12.200.777.419.473 Kidney Neoplasms 2 092
C12.200.777.419.493 Kidney Papillary Necrosis 12
C12.200.777.419.570 Nephritis 159
C12.200.777.419.590 Nephrocalcinosis 46
C12.200.777.419.600 Nephrolithiasis 254
C12.200.777.419.610 Nephrosclerosis 45
C12.200.777.419.630 Nephrosis 30
C12.200.777.419.685 Perinephritis 1
C12.200.777.419.775 Renal Artery Obstruction 183
C12.200.777.419.780 Renal Insufficiency 1 026
C12.200.777.419.787 Renal Nutcracker Syndrome 2
C12.200.777.419.815 Renal Tubular Transport, Inborn Errors 36
C12.200.777.419.815.093 Acidosis, Renal Tubular 59
C12.200.777.419.815.279 Bartter Syndrome 19
C12.200.777.419.815.364 Dent Disease 1
C12.200.777.419.815.450 Fanconi Syndrome 23
C12.200.777.419.815.491 Gitelman Syndrome 17
C12.200.777.419.815.532 Glycosuria, Renal 36
C12.200.777.419.815.647 Hypophosphatemia, Familial 12
C12.200.777.419.815.683 Liddle Syndrome 4
C12.200.777.419.815.720 Oculocerebrorenal Syndrome 9
C12.200.777.419.815.770 Pseudohypoaldosteronism 9
C12.200.777.419.815.885 Renal Aminoacidurias 27
C12.200.777.419.912 Tuberculosis, Renal 33
C12.200.777.419.936 Uremia 227
C12.200.777.419.978 Zellweger Syndrome 10
C12.950 Urologic Diseases 834
C12.950.419 Kidney Diseases 3 060
C12.950.419.050 AIDS-Associated Nephropathy 5
C12.950.419.078 Anuria 74
C12.950.419.135 Diabetes Insipidus 173
C12.950.419.192 Diabetic Nephropathies 984
C12.950.419.291 Hepatorenal Syndrome 91
C12.950.419.307 Hydronephrosis 232
C12.950.419.313 Hyperoxaluria 23
C12.950.419.331 Hypertension, Renal 332
C12.950.419.393 Kidney Cortex Necrosis 10
C12.950.419.403 Kidney Diseases, Cystic 148
C12.950.419.473 Kidney Neoplasms 2 092
C12.950.419.493 Kidney Papillary Necrosis 12
C12.950.419.570 Nephritis 159
C12.950.419.590 Nephrocalcinosis 46
C12.950.419.600 Nephrolithiasis 254
C12.950.419.610 Nephrosclerosis 45
C12.950.419.630 Nephrosis 30
C12.950.419.685 Perinephritis 1
C12.950.419.775 Renal Artery Obstruction 183
C12.950.419.780 Renal Insufficiency 1 026
C12.950.419.787 Renal Nutcracker Syndrome 2
C12.950.419.795 Chronic Kidney Disease-Mineral and Bone Disorder 146
C12.950.419.815 Renal Tubular Transport, Inborn Errors 36
C12.950.419.815.093 Acidosis, Renal Tubular 59
C12.950.419.815.279 Bartter Syndrome 19
C12.950.419.815.364 Dent Disease 1
C12.950.419.815.450 Fanconi Syndrome 23
C12.950.419.815.491 Gitelman Syndrome 17
C12.950.419.815.532 Glycosuria, Renal 36
C12.950.419.815.647 Hypophosphatemia, Familial 12
C12.950.419.815.683 Liddle Syndrome 4
C12.950.419.815.720 Oculocerebrorenal Syndrome 9
C12.950.419.815.770 Pseudohypoaldosteronism 9
C12.950.419.815.885 Renal Aminoacidurias 27
C12.950.419.912 Tuberculosis, Renal 33
C12.950.419.936 Uremia 227
C12.950.419.978 Zellweger Syndrome 10
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.033 Adrenal Hyperplasia, Congenital 225
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 83
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 47
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 61
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.290 Eye Diseases, Hereditary 57
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322 Genetic Diseases, X-Linked 59
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 46
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 5
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.151 Amino Acid Transport Disorders, Inborn 1
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.240 Cytochrome-c Oxidase Deficiency 27
C16.320.565.300 Hyperbilirubinemia, Hereditary 35
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors 40
C16.320.565.893 Renal Tubular Transport, Inborn Errors 36
C16.320.565.925 Steroid Metabolism, Inborn Errors 7
C16.320.577 Muscular Dystrophies 140
C16.320.590 Myasthenic Syndromes, Congenital 20
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 123
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 46
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.831.093 Acidosis, Renal Tubular 59
C16.320.831.271 Dent Disease 1
C16.320.831.450 Fanconi Syndrome 23
C16.320.831.491 Gitelman Syndrome 17
C16.320.831.532 Glycosuria, Renal 36
C16.320.831.647 Hypophosphatemia, Familial 12
C16.320.831.698 Liddle Syndrome 4
C16.320.831.750 Oculocerebrorenal Syndrome 9
C16.320.831.770 Pseudohypoaldosteronism 9
C16.320.831.885 Renal Aminoacidurias 27
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.151 Amino Acid Transport Disorders, Inborn 1
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.300 Hyperbilirubinemia, Hereditary 35
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors 40
C18.452.648.893 Renal Tubular Transport, Inborn Errors 36
C18.452.648.925 Steroid Metabolism, Inborn Errors 7

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