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Gene: Slc16a10 MGI:1919722

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 16 (monocarboxylic acid transporters), member 10

Synonyms:

TAT1, 2610103N14Rik, Mct10, PRO0813

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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.

Human diseases associated with Slc16a10 (0 diseases)
Human diseases predicted to be associated with Slc16a10 (403 diseases)

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	Matching phenotypes	Source
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Carnosinemia	Carnosinuria	OMIM:212200
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Threoninemia	Hyperthreoninuria	OMIM:273770
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder	OMIM:204750
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Cataract 47	Glycosuria	OMIM:612018
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe...	OMIM:239500
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Homocarnosinosis	Carnosinuria	OMIM:236130
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinuria	OMIM:238700
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Gracile Syndrome	Aminoaciduria	OMIM:603358
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Valinemia	Valinuria	OMIM:277100
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria	OMIM:222100
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Galactosemia Iii	Aminoaciduria, Galactosuria	OMIM:230350
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria	OMIM:605899
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Argininemia	Diaminoaciduria	ORPHA:90
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Hypertryptophanemia	Hypersexuality, Aggressive behavior, Tryptophanuria	OMIM:600627
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Methionine Malabsorption Syndrome	Aminoaciduria	OMIM:250900
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Familial Renal Glucosuria	Recurrent urinary tract infections, Insulin resistance, Renal tubular dysfunction, Enuresis, Glyc...	ORPHA:69076
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ...	OMIM:618314
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Aminoaciduria, Lacticaciduria, Anorexia	OMIM:619386
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid...	OMIM:271980
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated...	OMIM:220150
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Polyuria	OMIM:613677
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia	OMIM:239200
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,...	OMIM:616026
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Dysphagia	ORPHA:391417
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Polydips...	ORPHA:213
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria	OMIM:609560
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Lipoyltransferase 1 Deficiency	Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Agitation, Increased urinary sulfite level	OMIM:272300
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Mody	Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli...	ORPHA:552
Leber Congenital Amaurosis 1	Hyperthreoninuria, Eye poking	OMIM:204000
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163693
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Megacystis, Polyuria	OMIM:304800
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami...	ORPHA:2088
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Polydi...	OMIM:612780
Central Diabetes Insipidus	Polydipsia, Nocturia, Anorexia	ORPHA:178029
Helix Syndrome	Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia	OMIM:617671
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy	OMIM:613404
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Aggressive behavior, Prol...	ORPHA:79101
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria	OMIM:250940
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Hawkinsinuria	Hypertyrosinemia, Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, ...	OMIM:140350
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Hyperinsulinemia, Renal Fanconi syndrome, Fasting hypoglycemia, Glycosuria, Hyperins...	ORPHA:263455
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte...	ORPHA:199343
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Mac...	ORPHA:79233
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria	OMIM:276710
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,...	ORPHA:320
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Methylmalonic aciduria	OMIM:236270
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Dysphagia	OMIM:255100
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R...	OMIM:263800
Hypotonia-Cystinuria Syndrome	Polyphagia, Cystine crystalluria, Nephrolithiasis, Cystinuria	OMIM:606407
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Pancreatic Cancer	Increased level of L-fucose in urine	OMIM:260350
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5...	OMIM:219800
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M...	OMIM:614105
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia...	OMIM:137920
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria	OMIM:560000
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor...	OMIM:208085
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria	OMIM:615330
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria, Impulsivity	ORPHA:35706
Pyruvate Dehydrogenase Phosphatase Deficiency	Lacticaciduria	ORPHA:79246
Insulin-Resistance Syndrome Type B	Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H...	ORPHA:2298
D-Glyceric Aciduria	Aminoaciduria, Tongue thrusting, Micropenis	OMIM:220120
Argininemia	Hyperactivity, Diaminoaciduria, Oroticaciduria, Anorexia	OMIM:207800
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria	OMIM:612073
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hypernatriuria, Hyposthenuria	OMIM:300539
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Familial Hyperaldosteronism Type Iii	Polydipsia, Hypercalciuria	ORPHA:251274
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy...	OMIM:605711
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium	ORPHA:231580
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Homocitrullinuria	OMIM:238970
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Glycosuria	OMIM:617253
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria	OMIM:616034
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine	OMIM:615501
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ...	OMIM:229600
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:601678
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria	OMIM:277410
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria	ORPHA:6
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Dysphagia, Hydronephrosis	OMIM:617913
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria	OMIM:614857
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Propionic Acidemia	Organic aciduria	ORPHA:35
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	OMIM:207900
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino...	OMIM:277900
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria	OMIM:602080
Leigh Syndrome	Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren...	ORPHA:506
D-Lactic Aciduria With Gout	Lacticaciduria	OMIM:245450
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria	OMIM:606054
Myasthenia Gravis	Glycosuria	ORPHA:589
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis	ORPHA:369929
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Fumarase Deficiency	Elevated urine fumaric acid level, Aminoaciduria, Bilateral fetal pyelectasis, Increased urine su...	OMIM:606812
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Renal tubular dysfunction, Glucose intolerance, Glycosuria	OMIM:616539
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:99880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Elevated circulating creatinine concentration, Acute kidney in...	OMIM:235400
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Homocystinuria	OMIM:236200
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level	OMIM:239000
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Aggressive behavior	OMIM:612736
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:143
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria	OMIM:264700
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal inte...	ORPHA:91500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria	OMIM:619055
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Lysinuric Protein Intolerance	Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease, Hyperlysinuria	OMIM:222700
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output	ORPHA:542323
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninuria, Homocystinuria, Methylmalonic aciduria	OMIM:277380
Hyperlysinemia	Hyperactivity, Argininuria, Cystinuria, Decreased urine alpha-ketoglutarate concentration, Hyperl...	ORPHA:2203
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul...	OMIM:309000
Combined Oxidative Phosphorylation Deficiency 36	Aciduria	OMIM:617950
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Interstitial Lung And Liver Disease	Aminoaciduria	OMIM:615486
Panhypophysitis	Polydipsia, Hyposthenuria	ORPHA:95513
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly...	ORPHA:3463
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria	OMIM:251880
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria	ORPHA:289157
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Renal dysplasia	OMIM:618183
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ...	ORPHA:340
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia	ORPHA:3157
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatinine concentr...	OMIM:613095
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia	ORPHA:537
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria	OMIM:210200
Pearson Syndrome	Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci...	OMIM:615751
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia	ORPHA:514
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Microscopi...	OMIM:274150
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ...	ORPHA:358
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Erdheim-Chester Disease	Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria	ORPHA:35687
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Polyphagia	ORPHA:525731
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Dysphagia	ORPHA:220393
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria	OMIM:124000
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Scorpion Envenomation	Hyperglycemia, Ketonuria, Acute kidney injury, Glycosuria	ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add...	ORPHA:31826
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha...	ORPHA:399
Lassa Fever	Oliguria, Dysphagia	ORPHA:99824
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease...	ORPHA:731
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,...	ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a...	OMIM:619355
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ...	OMIM:211900
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria	ORPHA:395
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria	OMIM:258900
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria	ORPHA:159
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Whipple Disease	Polydipsia, Anorexia	ORPHA:3452
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Elevated circulating creatinine concentration, Acute kidney injury	ORPHA:90038
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Xeroderma Pigmentosum	Aminoaciduria	ORPHA:910
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Polydipsia, Long penis	ORPHA:769
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Impaired oropharyngeal swallow response, Impaired oral bolus formation, Generalized aminoaciduria	ORPHA:404454
Cholera	Decreased urine output, Abnormality of renal excretion, Acute kidney injury	ORPHA:173
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis	OMIM:261680
Methylmalonic Aciduria, Cbla Type	Elevated urine 2-methylcitric acid level, Ketonuria, Elevated urine 3-hydroxypropionic acid level...	OMIM:251100
Porphyria Cutanea Tarda	Increased urinary porphobilinogen, Addictive alcohol use, Stage 5 chronic kidney disease, Porphyr...	ORPHA:101330
Acute Promyelocytic Leukemia	Hematuria, Addictive alcohol use, Anorexia	ORPHA:520
Lipodystrophy, Familial Partial, Type 7	Polyuria, Dysphagia	OMIM:606721
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia	ORPHA:293987
Glutaric Acidemia I	Glutaric aciduria, Ketonuria	OMIM:231670
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria	OMIM:619167
Isolated Osteopoikilosis	Addictive alcohol use, Abnormality of the kidney	ORPHA:166119
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria	ORPHA:79644
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia	ORPHA:319213
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria, Dysphagia	OMIM:616457
Beta-Ketothiolase Deficiency	Oral aversion, Ketonuria, Agitation, Anorexia	ORPHA:134
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria	OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria	OMIM:615453
Infection-Related Hemolytic Uremic Syndrome	Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output	ORPHA:544482
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype...	OMIM:619991
Sepsis In Premature Infants	Oliguria, Reversible renal failure	ORPHA:90051
Colchicine Poisoning	Renal insufficiency, Oliguria	ORPHA:31824
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria, Oral-pharyngeal dysphagia	OMIM:616878
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion	ORPHA:289176
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Dysphagia	ORPHA:480864
Methanol Poisoning	Addictive alcohol use	ORPHA:31825
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatinine concentration, Acute kidney injury	ORPHA:99829
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Anorexia	ORPHA:20
Aspartylglucosaminuria	Aspartylglucosaminuria	ORPHA:93
Aspartylglucosaminuria	Aspartylglucosaminuria	OMIM:208400
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Increased urinary glycerol, Ketonuria	ORPHA:247598
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Methylmalonic aciduria	ORPHA:79282
Acute Lung Injury	Addictive alcohol use	ORPHA:178320
Herpes Simplex Virus Encephalitis	Addictive alcohol use	ORPHA:1930
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use	ORPHA:36238
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria	ORPHA:466650
Acquired Aneurysmal Subarachnoid Hemorrhage	Addictive alcohol use	ORPHA:90065
Cirrhotic Cardiomyopathy	Addictive alcohol use	ORPHA:57777
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Dysphagia	OMIM:220111

Histopathology

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
Slc16a10^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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