Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cltrn MGI:1926234

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

collectrin, amino acid transport regulator

Synonyms:

NX=17, 0610008J07Rik, collectrin, NX17, Tmem27

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 Cltrn 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 Cltrn (1 diseases)
Human diseases predicted to be associated with Cltrn (556 diseases)

The table below shows human diseases associated to Cltrn by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hartnup Disease		Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116

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

Disease	Matching phenotypes	Source
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Hawkinsinuria	Hypertyrosinemia, Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, ...	OMIM:140350
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Hyper-Beta-Alaninemia	Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia	OMIM:237400
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Tyrosinemia, Type Iii	Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, H...	OMIM:276710
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Galactosemia Iii	Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase activity, Hypergalactosemia, ...	OMIM:230350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Jaundice, Low p...	OMIM:615751
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Valinemia	Hypervalinemia, Valinuria, Failure to thrive	OMIM:277100
Camptodactyly 1	Increased urinary taurine, Camptodactyly of finger	OMIM:114200
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	OMIM:619468
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ...	OMIM:606528
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl...	OMIM:617156
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity, Hyperlysinuria	OMIM:238700
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,...	OMIM:619386
Stimmler Syndrome	Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology	ORPHA:3199
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated c...	OMIM:615158
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Methylmalonic ...	OMIM:277410
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Hyperphenylalaninemia, Bh4-Deficient, D	Elevated urinary 7-biopterin level, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder	OMIM:204750
Carnosinemia	Carnosinuria	OMIM:212200
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Hypertryptophanemia	Camptodactyly of finger, Hypertryptophanemia, Aggressive behavior, Hypersexuality, Tryptophanuria	OMIM:600627
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Weight loss	ORPHA:79238
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased methionine synthase activity, Renal insufficiency, Hypomethioni...	OMIM:277400
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad...	ORPHA:223
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
5-Oxoprolinase Deficiency	Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu...	OMIM:260005
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Tyrosinemia, Type I	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hypertyrosinemia, Hypo...	OMIM:276700
Hawkinsinuria	Abnormal circulating tyrosine concentration, Failure to thrive, 4-hydroxyphenylacetic aciduria, 4...	ORPHA:2118
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive	OMIM:304800
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia	OMIM:605899
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Phenylketonuria	Aminoaciduria	ORPHA:716
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth...	OMIM:231900
Homocarnosinosis	Carnosinuria	OMIM:236130
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria, N...	OMIM:606407
Galactosemia I	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:230400
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Decre...	OMIM:251110
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic ac...	OMIM:251100
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid...	OMIM:271980
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Fai...	ORPHA:3008
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocystinemia, Failure to thrive...	OMIM:250940
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas...	OMIM:613845
Tyrosinemia Type 1	Acute hepatic failure, Generalized aminoaciduria	ORPHA:882
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, H...	OMIM:616026
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Methylmalonic aciduria, Hyperhomocystinemia, Failure to thrive, Homocysti...	OMIM:309541
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Ketonuria, Hypouricemia, Elevated...	OMIM:227810
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Bilateral fetal pyelectasis, Decreased fu...	OMIM:606812
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, ...	OMIM:613404
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
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
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial...	OMIM:124000
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive	ORPHA:163693
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminot...	ORPHA:2088
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Cerebral Creatine Deficiency Syndrome 3	Failure to thrive, Organic aciduria	OMIM:612718
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level	OMIM:266130
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Methylmalonic ...	OMIM:236270
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Jaundice	ORPHA:33574
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre...	OMIM:610600
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia	ORPHA:178029
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulat...	ORPHA:94093
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79101
Webb-Dattani Syndrome	Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis	OMIM:615926
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E...	OMIM:605850
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria...	OMIM:604273
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti...	ORPHA:276580
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Elevated ...	OMIM:261600
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Sulfite oxidase deficiency,...	OMIM:272300
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi...	OMIM:614736
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Mitochondrial Dna-Associated Leigh Syndrome	Failure to thrive, Multiple glomerular cysts, Abnormality of Krebs cycle metabolism, Low plasma c...	ORPHA:255210
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Sarcosinemia	Hypersarcosinuria, Hypersarcosinemia	ORPHA:3129
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Glutathionuria	Reduced gamma-glutamyltransferase level, Urinary incontinence, Glutathionuria	OMIM:231950
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Failure to thrive	OMIM:264350
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating enzyme concentration or activity, Ankle flexion ...	ORPHA:100924
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Familial Expansile Osteolysis	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration	OMIM:174810
Hereditary Coproporphyria	Dark urine, Hyponatremia, Abnormal circulating porphyrin concentration, Porphyrinuria, Atypical s...	ORPHA:79273
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating reni...	OMIM:613677
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive	OMIM:203400
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po...	ORPHA:71526
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Dysphagia	ORPHA:391417
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciu...	OMIM:612780
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Bardet-Biedl Syndrome 9	Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Leber Congenital Amaurosis 1	Hyperthreoninuria, Eye poking, Hyperthreoninemia	OMIM:204000
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia...	OMIM:603471
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Leptin Deficiency Or Dysfunction	Micropenis, Polyphagia, Obesity	OMIM:614962
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Chondrocalcinosis, Hypoca...	OMIM:263800
D-Glyceric Aciduria	Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Tongue thrusting, Nonketotic hyperglyc...	OMIM:220120
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia	OMIM:617885
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ...	OMIM:601678
Hereditary Leiomyomatosis And Renal Cell Cancer	Renal cell carcinoma, Decreased fumarate hydratase activity	OMIM:150800
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c...	OMIM:617950
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Inguinal herni...	OMIM:614857
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive	OMIM:614520
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failure to thrive, ...	OMIM:238970
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Diabetes mellitus	OMIM:249270
Teratoma, Pineal	Polyuria	OMIM:273120
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
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,...	OMIM:210210
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa...	OMIM:241200
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Ketotic h...	ORPHA:361
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Failure to thrive, Proximal tubulopathy, Polyuria	OMIM:560000
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H...	OMIM:252150
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact...	OMIM:615547
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria...	ORPHA:18
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp...	ORPHA:2089
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
2,4-Dienoyl-Coa Reductase Deficiency	Failure to thrive, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reductase activity, Decreased pl...	OMIM:616034
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly...	OMIM:617671
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Elevated circ...	OMIM:605711
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:255100
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Increased urinary tauri...	OMIM:615501
Pyruvate Dehydrogenase Phosphatase Deficiency	Hyperalaninemia, Lacticaciduria, Hyperprolinemia	ORPHA:79246
Porphyria Variegata	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Neurogenic ...	ORPHA:79473
Argininosuccinic Aciduria	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminem...	OMIM:207900
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Beta-aminoisobutyric aciduria, Hyperglycinemia	OMIM:615330
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Glutaric Acidemia Type 3	Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ...	ORPHA:35706
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia	OMIM:201450
Wolcott-Rallison Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hyponatremia, Neonatal...	ORPHA:1667
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Temple Syndrome	Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia	ORPHA:254516
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Self-injurious behavior, Poly...	ORPHA:228402
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Elevate...	OMIM:239000
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis, Obesity, Polydipsia	OMIM:615994
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Renal salt wasting	OMIM:300200
Propionic Acidemia	Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hypergl...	OMIM:606054
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Jaundice...	OMIM:229600
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Salt craving, Decreased circulating cortisol level, Hypercalce...	ORPHA:95409
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Methylmalonic aciduria, Elevated ...	OMIM:614105
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Wagro Syndrome	Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp...	OMIM:612469
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia, Hypoglycemia	OMIM:608688
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Acute Intermittent Porphyria	Dark urine, Restlessness, Renal insufficiency, Abnormal circulating enzyme concentration or activ...	ORPHA:79276
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Bruck Syndrome 2	Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydrox...	OMIM:609220
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Jaundice, Hepatitis, Hematuria, Cellulitis	ORPHA:549
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a...	OMIM:617913
Canavan Disease	Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent...	OMIM:271900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Amin...	OMIM:619055
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Portal hypertension, Elevated cir...	OMIM:251880
Leptin Receptor Deficiency	Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia	OMIM:614963
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Decreased methionine synthase activity, Small for gestational age, Cystat...	OMIM:277380
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating alkaline phosphatase concentration, Hypocalcemia,...	OMIM:264700
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Acute kidney injury, Neuromuscular dysphagia	ORPHA:449285
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Jaundice, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Elevated ...	OMIM:214110
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper...	OMIM:251120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat...	OMIM:619355
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria	OMIM:207800
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre...	ORPHA:97279
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodys...	OMIM:608594
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Failure to thrive, Multiple joint contract...	ORPHA:506
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Obesity, Hypoglycemic seizures, Hyperbilirubinemia, Polyphagia	OMIM:609734
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Homoc...	OMIM:236200
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:66628
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal...	ORPHA:90791
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Hyperlysinemia	Abnormal circulating enzyme concentration or activity, Hyperactivity, Failure to thrive, Argininu...	ORPHA:2203
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodys...	OMIM:269700
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure...	ORPHA:199296
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:179494
Interstitial Lung And Liver Disease	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:615486
Friedreich Ataxia	Diabetes mellitus, Decreased pyruvate carboxylase activity	OMIM:229300
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Steatorrhea, Failure to thr...	ORPHA:95427
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Generalized aminoaciduria, Hypocalcemia, Hypophosph...	ORPHA:289157
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An...	ORPHA:85138
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Elevated hepatic iron concentration	OMIM:614946
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Lysinuric Protein Intolerance	Failure to thrive, Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic k...	OMIM:222700
Pseudohypoparathyroidism Type 1C	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi...	ORPHA:79444
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hyperglycinemia, Lacticaciduria	OMIM:619063
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Hypercalcemia	OMIM:602080
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite...	OMIM:252160
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive	OMIM:177735
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Organic aciduria, Hypoglycemia	OMIM:614741
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Elevated circulating alanine ami...	OMIM:261680
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia	OMIM:619003
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentr...	ORPHA:159
Alg8-Cdg	Elevated hepatic transaminase, Hyponatremia, Abnormality of subcutaneous fat tissue, Small for ge...	ORPHA:79325
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Shigellosis	Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Ur...	ORPHA:810
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Increased circ...	ORPHA:79644
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Prolonged neonatal jaundice, Dysphagia, Elevated circula...	OMIM:214100
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Hypomethioninemia, Hyperhomocystinemia, Cy...	ORPHA:395
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Anorexia, Hyperk...	ORPHA:199299
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Autism, Susceptibility To, 3	Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mell...	ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome	Obesity, Abdominal obesity, Type II diabetes mellitus, Skin-picking, Abnormal temper tantrums, Mi...	ORPHA:398079
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma...	ORPHA:534
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Hyperkalemia, Microp...	OMIM:617053
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ab...	ORPHA:168558
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa...	OMIM:210200
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Anorexia, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:91500
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ab...	ORPHA:289548
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, O...	ORPHA:293987
Pseudohypoparathyroidism Type 1A	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi...	ORPHA:79443
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, E...	ORPHA:340
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Panhypophysitis	Hyponatremia, Polydipsia, Hyposthenuria, Decreased circulating cortisol level	ORPHA:95513
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Hyperphenylalaninemia, Bh4-Deficient, C	Hyperphenylalaninemia, Dysphagia	OMIM:261630
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hyperactivity, Jaundice, Polydipsia, Failure to thrive, Polyphagia	ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr...	OMIM:156200
Hartsfield Syndrome	Micropenis, Hypernatremia, Hypospadias	OMIM:615465
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyp...	OMIM:620358
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy...	OMIM:615453
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79324
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin...	OMIM:603553
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Hyposthenuria	ORPHA:95512
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Hypospadias, Inguinal hernia, Unilateral renal agenesis, Aggressive...	ORPHA:96121
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Abnormal circulating carnitine concentration, Renal tubular acidosis, Decrease...	ORPHA:431361
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Anorexia, Hepatitis, Weight loss, Hypoalbu...	OMIM:619381
Prader-Willi Syndrome	Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi...	OMIM:176270
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Glutaric Acidemia I	Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidase activity, El...	OMIM:231670
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, 3-Met...	OMIM:246450
Angelman Syndrome	Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr...	ORPHA:72
Adnp Syndrome	Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Aggressive behavior, O...	ORPHA:404448
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Hyposthenuria	ORPHA:91355
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injur...	ORPHA:544482
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Hydroxykynureninuria	Renal tubular acidosis, Abnormal repetitive mannerisms, Abnormal circulating tryptophan concentra...	ORPHA:79155
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Whipple Disease	Hyponatremia, Cachexia, Anorexia, Insulin resistance, Polydipsia	ORPHA:3452
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious...	ORPHA:177904
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation	ORPHA:251028
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious...	ORPHA:177901
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal...	ORPHA:98754
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Luscan-Lumish Syndrome	Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Oliguria, Anorexia, Weight loss	ORPHA:514
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli...	OMIM:613070
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Portal hypertension, Jaund...	ORPHA:731
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Failure...	ORPHA:90790
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney	ORPHA:1764
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Failure to thrive, Limb joint contracture, Small for gestational a...	ORPHA:404454
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Liver Disease, Severe Congenital	Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Hypospadias, Hype...	OMIM:619991
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Organic aciduria, Anorexia, Weight loss	ORPHA:79242
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Inguinal hernia, Galactosuria	ORPHA:85276
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Lo...	ORPHA:90794
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus	OMIM:618252
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Recurrent urinary tract infections, Abnormal repetitive mannerisms, Bruxism, Obesi...	OMIM:615873
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:26791
Holoprosencephaly	Hyponatremia, Omphalocele, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Con...	ORPHA:2162
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Hypospadias, Abnormality of the kidney, Abnormality of alkaline ...	OMIM:137920
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:311250
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral av...	ORPHA:134
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior	OMIM:612716
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity	OMIM:620155
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Hyperphenylalaninemia, Dysphagia	OMIM:261640
Systemic Capillary Leak Syndrome	Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Citrullinemia, Classic	Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated pla...	OMIM:215700
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Prader-Willi Syndrome	Diabetes mellitus, Abdominal obesity, Attention deficit hyperactivity disorder, Failure to thrive...	ORPHA:739
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
D-Lactic Aciduria With Gout	Inguinal hernia, Lacticaciduria	OMIM:245450
Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive, Reduced orotidine 5-prime...	OMIM:258900
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615595
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
X-Linked Acrogigantism	Increased body mass index, Abnormal oral glucose tolerance, Fasting hyperinsulinemia, Polyphagia	ORPHA:300373
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Xeroderma Pigmentosum	Aminoaciduria, Failure to thrive	ORPHA:910
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Flexion contracture, Oliguria, Dysphagia	ORPHA:220393
Lassa Fever	Jaundice, Oliguria, Dysphagia	ORPHA:99824
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Flexion contracture, Horseshoe kidney, Failure to thrive	OMIM:617140
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Elevated alkaline phosphatase of bone origin, ...	ORPHA:289176
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Recurrent hypoglycemia, Failure...	ORPHA:293978
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	ORPHA:480864
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Sepsis In Premature Infants	Small for gestational age, Elevated circulating C-reactive protein concentration, Jaundice, Oligu...	ORPHA:90051
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Pituitary Apoplexy	Hyponatremia, Increased circulating cortisol level, Hypoglycemia	ORPHA:95613
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Dysphagia	OMIM:233910
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protein conce...	ORPHA:319213
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Polyphagia,...	ORPHA:1606
Dystonia, Dopa-Responsive	Transient hyperphenylalaninemia	OMIM:128230
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Nonketotic hypoglycemia, Ketonuria, Anorexia, Jaundice, Hyperammon...	ORPHA:20
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:167
Developmental And Epileptic Encephalopathy 50	Oroticaciduria, Hyperammonemia, Renal tubular acidosis, Dysphagia, Failure to thrive	OMIM:616457
Gangliocytoma	Polyphagia	ORPHA:251937
Craniopharyngioma	Polyphagia, Type II diabetes mellitus, Obesity	ORPHA:54595
Japanese Encephalitis	Hyponatremia, Elbow flexion contracture, Anorexia	ORPHA:79139
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3...	OMIM:251900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hypogl...	ORPHA:79282
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Failure to thrive, Oroticaciduria, Hepatitis, Hyperammonemia, Hype...	ORPHA:415
Classic Phenylketonuria	Self-injurious behavior, Attention deficit hyperactivity disorder, Hyperphenylalaninemia	ORPHA:79254
Friedreich Ataxia 2	Diabetic ketoacidosis, Decreased pyruvate carboxylase activity	OMIM:601992
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating aspartate aminotransferase concentration, Eleva...	ORPHA:99829
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Aggressive behavior, Ectopic kidney, Obesity, Camptodactyly...	OMIM:607872
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Elevated gamma-glutamyltransferase l...	ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Hypoglycemia, Small for gestatio...	OMIM:201750
Pearson Syndrome	Elevated hepatic transaminase, Renal insufficiency, Diabetes mellitus, Proteinuria, Small for ges...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria	OMIM:619167
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, De...	ORPHA:466650
Scorpion Envenomation	Restlessness, Ketonuria, Increased circulating NT-proBNP concentration, Elevated circulating aspa...	ORPHA:466677
Aspartylglucosaminuria	Umbilical hernia, Inguinal hernia, Aspartylglucosaminuria	ORPHA:93
Aspartylglucosaminuria	Aspartylglucosaminuria, Hernia	OMIM:208400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive, Aciduria, Jaundice, 3-Me...	OMIM:203700
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Transient hyperphenylalaninemia, Compulsive behaviors	ORPHA:98808
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Hyperammonemia,...	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 Cltrn

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 Cltrn.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Collectrin (Tmem27) deficiency in proximal tubules causes hypertension in mice and a TMEM27 variant associates with blood pressure in males in a Latino cohort.	American journal of physiology. Renal physiology (October 2022)	Cltrn^{tm1c(EUCOMM)Wtsi} Cltrn^{tm1a(EUCOMM)Wtsi}	36264884

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cltrn^{tm40973(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cltrn^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cltrn^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cltrn^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us