Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

solute carrier family 16 (monocarboxylic acid transporters), member 10
TAT1,  2610103N14Rik,  Mct10,  PRO0813

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc16a10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc16a10 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperglycinuria, Glycosuria OMIM:138070
Elevated urinary cytidine, Elevated uridine in urine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Abnormality of urine homeostasis OMIM:260800
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Hyperprolinemia, Type Ii
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239510
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Tiglic Acidemia
Aminoaciduria OMIM:275190
Ornithinuria, Cystinuria, Nephrolithiasis, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Carnosinuria OMIM:212200
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Hyperlysinuria OMIM:236900
Hyperthreoninuria OMIM:273770
Citrullinuria, Histidinuria, Hyperlysinuria, Saccharopinuria OMIM:268700
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria OMIM:219500
Aminoaciduria ORPHA:716
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Camptodactyly 1
Increased urinary taurine OMIM:114200
Cataract 47
Glycosuria OMIM:612018
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Elevated urinary catecholamines ORPHA:635
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... OMIM:619468
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy ORPHA:69076
Renal Glucosuria
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Hyperlysinuria, Cystinuria OMIM:222350
Increased urinary taurine OMIM:237400
Carnosinuria OMIM:236130
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:266900
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Gastric Cancer
Increased level of L-fucose in urine OMIM:613659
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Valinuria OMIM:277100
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia OMIM:606996
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Gracile Syndrome
Aminoaciduria OMIM:603358
Cystathioninuria, Nephrolithiasis ORPHA:212
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Type 1 Diabetes Mellitus
Polyuria, Polyphagia, Polydipsia OMIM:222100
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Diaminoaciduria ORPHA:90
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria OMIM:238750
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Renal phosphate wasting, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Aminoaciduria, ... OMIM:616026
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria, Polydipsia OMIM:304900
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Rowley-Rosenberg Syndrome
Aminoaciduria OMIM:268500
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Hypotonia-Cystinuria Syndrome
Cystinuria, Polyphagia, Nephrolithiasis ORPHA:163690
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... ORPHA:93101
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Tryptophanuria OMIM:600627
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Glucose/Galactose Malabsorption
Glycosuria, Abnormal oral glucose tolerance OMIM:606824
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Ketonuria ORPHA:2089
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... OMIM:248250
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Hyperlysinuria, Citrullinuria, Cystinuria ORPHA:3124
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Hyperhistidinemia, Histidinuria ORPHA:2157
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Hyperhistidinemia, Histidinuria OMIM:235800
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Glycine Encephalopathy
Hyperglycinuria OMIM:605899
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Lacticaciduria OMIM:619386
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Polydipsia OMIM:613677
Ochoa Syndrome
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... ORPHA:2704
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polydipsia, Aminoaciduria, Polyuria, Hypercalciuria OMIM:239200
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... OMIM:613550
Galactosemia I
Increased level of galactitol in urine, Aminoaciduria, Albuminuria, Galactosuria OMIM:230400
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Dysphagia, Abnormal urinary acylglycine profile ORPHA:391417
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612926
Hypercalcemia, Infantile, 1
Hypercalciuria, Polyuria, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Hypersarcosinuria ORPHA:3129
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Renal tubular dysfunction, Polydipsia, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency ORPHA:213
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Hypocalciuria, Renal potassiu... OMIM:612780
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
2P21 Microdeletion Syndrome
Cystinuria, Nephrolithiasis ORPHA:163693
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria, Polydipsia OMIM:125800
Fanconi-Bickel Syndrome
Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubul... ORPHA:2088
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria, Polydipsia OMIM:304800
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria OMIM:309541
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Helix Syndrome
Polydipsia, Nephrolithiasis, Hypocalciuria, Polyuria, Renal insufficiency OMIM:617671
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Dysphagia, Hydronephrosis OMIM:617913
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Acute kidney injur... ORPHA:79233
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wasting, Polyuria OMIM:613845
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Dysphagia, Organic aciduria OMIM:255100
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc... ORPHA:263455
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria OMIM:250940
D-Glyceric Aciduria
Aminoaciduria OMIM:220120
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Polydipsia, Proximal tubulopathy, Elevated circulating creatinine concent... ORPHA:411634
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Bardet-Biedl Syndrome 17
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria OMIM:615994
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria OMIM:236270
Bartter Syndrome, Type 3
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... OMIM:607364
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine OMIM:271980
Wilson Disease
Hyperphosphaturia, Dysphagia, Renal tubular dysfunction, Nephrolithiasis, Glycosuria, Aminoacidur... OMIM:277900
East Syndrome
Renal salt wasting, Renal sodium wasting, Polydipsia, Salt craving, Abnormal urinary electrolyte ... ORPHA:199343
Riboflavin Deficiency
Dicarboxylic aciduria OMIM:615026
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Distal Renal Tubular Acidosis
Hyperphosphaturia, Polydipsia, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular filtr... ORPHA:18
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency, Hyperchlo... OMIM:613090
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria OMIM:210550
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Polyuria, Hypercalciuria OMIM:300971
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Polydipsia, Neph... ORPHA:47159
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Hypoglycemia, Proximal tu... OMIM:231680
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria OMIM:276710
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Nephrogenic Diabetes Insipidus
Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insuffic... ORPHA:223
C3 Glomerulopathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage 5 chronic kid... ORPHA:329918
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria OMIM:227810
Hyperprolinemia Type 2
Prolinuria, Dysphagia, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Rena... ORPHA:79101
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... OMIM:220110
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Polydipsia, Abnormal tubulo... ORPHA:411629
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... ORPHA:567548
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... ORPHA:436271
Pancreatic Cancer
Increased level of L-fucose in urine OMIM:260350
Hypotonia-Cystinuria Syndrome
Cystinuria, Polyphagia, Nephrolithiasis OMIM:606407
Gitelman Syndrome
Polydipsia, Salt craving, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, R... OMIM:263800
Central Diabetes Insipidus
Nocturia, Polydipsia ORPHA:178029
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency OMIM:204690
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria OMIM:140350
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Renal insufficiency, Polydipsia, Nephrocalcinosis ORPHA:320
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaire... OMIM:137920
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Isovaleric Acidemia
Hyperglycinuria OMIM:243500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine OMIM:300539
Cystinosis, Nephropathic
Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Polydipsia, Nephrolithiasis, Glycos... OMIM:219800
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... OMIM:607665
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... ORPHA:2298
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia ORPHA:251274
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color ORPHA:2116
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Prote... ORPHA:275555
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary thiosulfate, Absent urinary urothione, Decreased urinary urate, In... OMIM:252150
D-Glyceric Aciduria
Hyperglycinuria ORPHA:941
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria OMIM:614857
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Methylmalonic aciduria, Homocystinuria, Hematuria, Hemolytic-uremic syndrome, N... OMIM:277400
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloridur... OMIM:241200
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Ketonuria OMIM:251120
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... OMIM:613095
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Hyperglycemia, Glycosuria, Abnormality of the up... ORPHA:99885
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria OMIM:277410
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninuria, Methylmalonic aciduria OMIM:277380
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tu... OMIM:229600
Fumarase Deficiency
Aminoaciduria OMIM:606812
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Increased urinary potassium, Hyperprostaglandinuria, Hyperchloriduria, Renal po... OMIM:601678
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria ORPHA:6
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Renal cyst, ... ORPHA:730
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine OMIM:615501
Seckel Syndrome 10
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Diabetes mellitus OMIM:617253
Propionic Acidemia
Organic aciduria ORPHA:35
Glutaric Acidemia Type 3
Glutaric aciduria, Ketonuria ORPHA:35706
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria OMIM:251880
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentra... OMIM:602088
Myasthenia Gravis
Glycosuria ORPHA:589
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria OMIM:207900
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... ORPHA:93111
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria OMIM:239000
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... OMIM:220150
Leigh Syndrome
Ethylmalonic aciduria, Dysphagia, Generalized aminoaciduria, Renal tubular dysfunction, Methylmal... ORPHA:506
Oroticaciduria, Diaminoaciduria OMIM:207800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia ORPHA:369929
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria OMIM:264700
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, R... ORPHA:99845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Acute kidney injury, Elevated circulating creatinine concentration, Hemolytic-uremic synd... OMIM:235400
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria OMIM:214100
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Propionic Acidemia
Increased level of hippuric acid in urine, Hyperglycinuria OMIM:606054
Familial Cold Urticaria
Polydipsia ORPHA:47045
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:99880
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Homocystinuria OMIM:236200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria OMIM:619055
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output ORPHA:542323
Aminoaciduria, Nephrolithiasis ORPHA:56
Parathyroid Carcinoma
Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... ORPHA:143
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Dysphagia, Argininuria, Cystinuria, Hyperlysinuria, Decreased urine alpha-ketoglutarate concentra... ORPHA:2203
Interstitial Lung And Liver Disease
Aminoaciduria OMIM:615486
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Polyuria OMIM:618183
Lysinuric Protein Intolerance
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease OMIM:222700
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria ORPHA:289157
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Hemoglobinuria, Glycosuria, Acute kidney injury, Chronic kidney disease, ... ORPHA:447
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Sterile pyuria... ORPHA:91500
Wolfram Syndrome
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Nephr... ORPHA:3463
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria ORPHA:85276
Hyposthenuria, Polydipsia ORPHA:95513
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Proximal renal tubular acidosis, Aminoaciduria, Protei... OMIM:309000
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Pearson Syndrome
Lacticaciduria, Renal cyst, Glycosuria, Diabetes mellitus, Proteinuria, Renal insufficiency ORPHA:699
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, 3-Methylglutaric aciduria, Organic ... OMIM:246450
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Ornithinuria, Decreased glomerular filtration rate,... ORPHA:470
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Elevated circulating creatinine concentratio... ORPHA:93126
Nephrolithiasis, Calcium Oxalate
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Polydip... ORPHA:358
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia, Dysuria, Abnormality of the urethra, Renal insufficiency ORPHA:537
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Scorpion Envenomation
Hyperglycemia, Acute kidney injury, Glycosuria, Ketonuria ORPHA:466677
Hemorrhagic Fever-Renal Syndrome
Decreased urine output, Tubulointerstitial nephritis, Anuria, Elevated circulating creatinine con... ORPHA:340
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Erdheim-Chester Disease
Hydronephrosis, Dysuria, Renal insufficiency, Polydipsia ORPHA:35687
Duplication Of Urethra
Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C... ORPHA:237
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dysphagia ORPHA:220393
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... OMIM:211900
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia ORPHA:525731
Oculocerebrorenal Syndrome Of Lowe
Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Oligosacchariduria... ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Acute kidney inju... ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, ... OMIM:619355
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria ORPHA:395
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria OMIM:615751
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Dicarboxylic aciduria ORPHA:159
Orotic Aciduria
Hematuria, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Complex organic aciduria, 3-Methylglutaric aciduria OMIM:557000
Atypical Werner Syndrome
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... ORPHA:79474
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Elevated circulating creatinine concentration, Hemoglobinuria ORPHA:90038
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Renal insufficiency, Oliguria ORPHA:727
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Ketonuria OMIM:261680
Zttk Syndrome
Horseshoe kidney, Polyuria, Unilateral renal agenesis OMIM:617140
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... ORPHA:416
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Ureteral duplication, Diabetes mellitus, Glycosuria OMIM:600001
Rabson-Mendenhall Syndrome
Polydipsia, Long penis, Nephrocalcinosis ORPHA:769
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria OMIM:210200
Glutaric Acidemia I
Glutaric aciduria, Ketonuria OMIM:231670
Richards-Rundle Syndrome
Ketonuria OMIM:245100
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oral bolus formation, Generalized aminoaciduria, Impaired oropharyngeal swallow response ORPHA:404454
Acute Monoblastic/Monocytic Leukemia
Oliguria ORPHA:514
Whipple Disease
Polydipsia ORPHA:3452
Abnormality of renal excretion, Acute kidney injury, Decreased urine output ORPHA:173
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithelial necrosis, ... ORPHA:31826
Brain-Lung-Thyroid Syndrome
Hypospadias, Abnormal drinking behavior, Megacystis, Abnormal eating behavior, Vesicoureteral reflux ORPHA:209905
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Lacticaciduria OMIM:619167
Methylmalonic Aciduria, Cblb Type
Methylmalonic aciduria, Ketonuria OMIM:251110
Lujo Hemorrhagic Fever
Microscopic hematuria, Renal insufficiency, Dysphagia, Oliguria ORPHA:319213
Methylmalonic Aciduria, Cbla Type
Methylmalonic aciduria, Ketonuria OMIM:251100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Infection-Related Hemolytic Uremic Syndrome
Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephrotic range proteinuria ORPHA:544482
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia ORPHA:289176
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, 3-Methylglutaconic aciduria, Aciduria OMIM:203700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Enuresis, Polydipsia, Polyphagia ORPHA:293987
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Beta-Ketothiolase Deficiency
Oral aversion, Ketonuria ORPHA:134
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Myoglobinuria, Ketonuria OMIM:616878
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dysphagia, Ketonuria ORPHA:480864
Yellow Fever
Anuria, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency ORPHA:99829
Aspartylglucosaminuria ORPHA:93
Aspartylglucosaminuria OMIM:208400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic aciduria, Hemolytic-uremic syndrome, Glomerulopathy, Renal insufficiency, Ketonuria ORPHA:79282
Citrullinemia, Classic
Oroticaciduria OMIM:215700
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria ORPHA:20
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Increased urinary glycerol, Ketonuria ORPHA:247598
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc16a10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc16a10.

No publications found that use IMPC mice or data for Slc16a10.

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MGI Allele Allele Type Produced
Slc16a10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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