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Gene: Akr1b1 MGI:1353494

Gene Summary

Name:

aldo-keto reductase family 1 member B

Synonyms:

ALR2, Aldor1, AR, Aldr1, Ahr-1, Ahr1, Akr1b3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

No results meet the p-value threshold

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Viewing: all phenotypes

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.

Eye Morphology

VIP of right fundus

14 Images

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Eye Morphology

VIP of left eye

14 Images

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Eye Morphology

VIP of right eye

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

VIP of left fundus

14 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Akr1b1 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 Akr1b1 (0 diseases)
Human diseases predicted to be associated with Akr1b1 (808 diseases)

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

The table below shows human diseases predicted to be associated to Akr1b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,...	OMIM:143880
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia	OMIM:145980
Renal Glucosuria	Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria	OMIM:233100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia	OMIM:239199
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria	OMIM:606996
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ...	OMIM:619468
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Polydipsia, Stage 5 chronic kidney di...	OMIM:256100
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Nephronophthisis 9	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts	OMIM:613824
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Nephronophthisis 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R...	OMIM:604387
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia	OMIM:211000
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures	ORPHA:2239
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Nephronophthisis 4	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul...	OMIM:606966
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ...	OMIM:618314
Type 1 Diabetes Mellitus	Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyuria	OMIM:222100
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary...	ORPHA:93101
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Xerostomia, Polydipsia, Renal insufficiency, Nephrolithiasis, Hyp...	OMIM:617671
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav...	OMIM:612780
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia	ORPHA:419
Senior-Loken Syndrome 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu...	OMIM:606995
Idiopathic Hypercalciuria	Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria	ORPHA:2197
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria	OMIM:612286
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:266900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency	ORPHA:2668
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho...	ORPHA:405
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ...	ORPHA:2843
Dibasic Amino Aciduria I	Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria	OMIM:222690
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper...	ORPHA:99879
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal...	OMIM:602522
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Polyhydramnios, ...	OMIM:300971
Ochoa Syndrome	Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena...	ORPHA:2704
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria	OMIM:613677
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Hyperprolinemia, Type Ii	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid...	OMIM:239510
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis	ORPHA:33111
Central Diabetes Insipidus	Polydipsia, Nocturia, Hyponatremia, Anorexia, Dehydration	ORPHA:178029
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Hypomagnesemia, Hypokalemia, Salt c...	OMIM:263800
Saccharopinuria	Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria...	OMIM:268700
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di...	OMIM:613550
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Hypernatremic ...	ORPHA:223
East Syndrome	Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ...	ORPHA:199343
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia	ORPHA:94086
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Attention deficit hyperactivity disorder, 2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria	OMIM:204750
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Megacystis, Polyuria, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Megacystis, Polyuria, Hypertonic dehydration	OMIM:304800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia,...	OMIM:613845
Carnosinemia	Carnosinuria	OMIM:212200
Hyperprolinemia, Type I	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi...	OMIM:239500
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Renal insufficiency, Decreased circulating renin level, Hypokalemia...	ORPHA:320
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re...	ORPHA:2260
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Cystinosis	Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur...	ORPHA:213
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Adamantinoma	Hypercalcemia	ORPHA:55881
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,...	ORPHA:84081
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Indolylacroyl Glycinuria With Impaired Intellectual Development	Hyperglycinuria	OMIM:243050
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, ...	OMIM:239200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia	OMIM:614732
Camptodactyly-Taurinuria Syndrome	Aminoaciduria, Increased urinary taurine	ORPHA:1325
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P...	ORPHA:411634
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Rhabdoid Tumor	Hematuria, Weight loss, Hypercalcemia, Renal neoplasm	ORPHA:69077
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney...	OMIM:145001
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur...	ORPHA:18
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ...	OMIM:603358
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland...	OMIM:601678
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria, Polydipsia	ORPHA:251274
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E...	ORPHA:94080
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo...	ORPHA:157215
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Hyperphosphatemia, Nephrolithiasis, Polyuria, Hypercalcemia	OMIM:617994
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Bardet-Biedl Syndrome 9	Polyphagia, Polydipsia, Renal insufficiency	OMIM:615986
Homocarnosinosis	Carnosinuria	OMIM:236130
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Hydroxykynureninuria	Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level	OMIM:236800
Hartnup Disorder	Attention deficit hyperactivity disorder, Elevated urinary indoleacetic acid level, Hyperactivity...	OMIM:234500
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Failure...	OMIM:227810
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria	OMIM:260005
Infantile Nephropathic Cystinosis	Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal...	ORPHA:411629
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro...	ORPHA:47159
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia	ORPHA:147
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia, Failure to thrive, Nephrolithiasis	ORPHA:163693
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H...	OMIM:179800
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:241200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Failure to thrive, Hypophosphatemic rickets, Re...	OMIM:241530
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level	OMIM:229100
Bardet-Biedl Syndrome 17	Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tu...	ORPHA:2088
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia	ORPHA:469
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Oculoskeletodental Syndrome	Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia, Small for ges...	OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva...	ORPHA:284426
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal...	ORPHA:73224
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Hypophosphatasia, Infantile	Nephrocalcinosis, Phosphoethanolaminuria, Failure to thrive, Elevated plasma pyrophosphate, Hyper...	OMIM:241500
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia	OMIM:238750
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Alpha-Methylacetoacetic Aciduria	Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration	OMIM:203750
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Renal tubular dysfunction	OMIM:606528
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Gitelman Syndrome	Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Failure to thrive, Hypomagnesemia,...	ORPHA:358
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic...	OMIM:603860
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level	OMIM:610600
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency	ORPHA:474
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Arima Syndrome	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr...	OMIM:243910
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level	OMIM:203400
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Dysphagia, Aminoacidu...	OMIM:219800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
Hypokalemic Tubulopathy And Deafness	Renal salt wasting, Increased circulating renin level	OMIM:619406
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Dehydration	OMIM:560000
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia	OMIM:156400
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias...	ORPHA:99880
Phenylketonuria	Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El...	OMIM:261600
Muscular Dystrophy, Cardiac Type	Carnosinuria, Elevated circulating creatine kinase concentration	OMIM:309930
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Polydipsia, Nephrolithiasis	ORPHA:369929
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Ma...	ORPHA:251004
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ...	ORPHA:93111
Idiopathic Achalasia	Weight loss, Decreased circulating prealbumin concentration	ORPHA:930
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Anorexia, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulat...	OMIM:619386
Parathyroid Carcinoma	Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias...	ORPHA:143
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Hyperc...	OMIM:239000
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys...	ORPHA:3124
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Weight loss, Hypercalcemia	ORPHA:97289
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Hypotonia-Cystinuria Syndrome	Polyphagia, Cystinuria, Nephrolithiasis	ORPHA:163690
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Oligohydramnios, Abnormal renal corticomedullary d...	OMIM:616733
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Anasarca, Hypomagnesemia, Ascites, Pleural effusion, Hypocalcemia, Hyponatremia,...	OMIM:618183
Colchicine Poisoning	Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp...	ORPHA:31824
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ...	ORPHA:416
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration	OMIM:264350
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormal temper tantrums, Hypocalciuria, Hypophosphaturia, Aggressive behavior, Attention deficit...	ORPHA:73223
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Pulmonary Blastoma	Weight loss	ORPHA:64741
Hyperlysinemia, Type I	Hypoornithinemia, Hyperlysinuria, Cystinuria, Hyperlysinemia, Hyperactivity, Ornithinuria, Argini...	OMIM:238700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias	OMIM:201910
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Nep...	ORPHA:29073
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypophosphatemia, Hypocalciuria	ORPHA:89936
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia	ORPHA:398063
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Spinal Cord Injury	Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros...	OMIM:619902
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Acute Adrenal Insufficiency	Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium,...	ORPHA:95409
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Pheochromocytoma	Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Elevated urine N-acetylaspartic acid level, In...	OMIM:618384
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Failure to thrive	ORPHA:172
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Failure to thrive	OMIM:614736
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased le...	OMIM:271980
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Joubert Syndrome 6	Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis	OMIM:610688
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, We...	ORPHA:79102
Panhypophysitis	Hyponatremia, Polydipsia, Hyposthenuria	ORPHA:95513
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin ...	ORPHA:556037
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Hypocalcemia, Nephrolithiasis, Cystinuria	OMIM:606407
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypophosphatemia, Hypocalcemia	ORPHA:89937
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Infantile Myofibromatosis	Hypercalcemia, Abnormality of the kidney	ORPHA:2591
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Nocturia, Increased blood urea nit...	OMIM:223360
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal...	OMIM:615398
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology	ORPHA:85447
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra...	OMIM:611489
Renal Tubular Dysgenesis	Renotubular dysgenesis, Oligohydramnios, Abnormality of the urinary system, Anuria	OMIM:267430
Familial Cold Urticaria	Polydipsia, Dehydration	ORPHA:47045
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph...	OMIM:616026
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Familial Isolated Hypoparathyroidism	Nephropathy, Hypocalcemia	ORPHA:2238
Erdheim-Chester Disease	Polydipsia, Pleural effusion, Joint swelling, Renal insufficiency, Hydronephrosis, Dysuria	ORPHA:35687
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia	ORPHA:403
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	ORPHA:556030
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Oli...	OMIM:208085
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia	ORPHA:23
Wolfram Syndrome	Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, D...	ORPHA:3463
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Increased level of...	OMIM:230400
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Lacticaciduria, Alaninuria, Hyperg...	OMIM:616299
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir...	ORPHA:94093
Familial Hypoaldosteronism	Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re...	ORPHA:427
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia	ORPHA:90362
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Ascites, Reduced r...	ORPHA:731
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,...	ORPHA:85450
Toxic Epidermal Necrolysis	Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria	ORPHA:537
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Renal insufficienc...	OMIM:263200
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	OMIM:612462
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia	ORPHA:3157
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria	OMIM:604273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Nephrotic syndrome, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, ...	ORPHA:37042
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hypercalciuria, Hypertr...	ORPHA:369837
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Laryngeal Neuroendocrine Tumor	Weight loss, Elevated circulating carcinoembryonic antigen concentration	ORPHA:100083
Histidinuria Due To A Renal Tubular Defect	Histidinuria, Impaired histidine renal tubular absorption	OMIM:235830
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Addison Disease	Failure to thrive, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Weight loss, Renal s...	ORPHA:85138
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Impaired histidine renal tubular absorption	ORPHA:2158
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Pleural effusion, Pulmonary edema, Abnormal renal tubule morpholog...	ORPHA:188
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Monosomy 13Q34	Obesity, Hypercalcemia, Fetal pyelectasis	ORPHA:96168
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Abnormal medullary pyramid morphology	ORPHA:79243
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, Co...	OMIM:613404
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Failure to thrive, Hyperbilirubinemia, Renal Fanconi syndrome, Hyperca...	OMIM:557000
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata...	OMIM:219730
Tyrosinemia, Type Ii	4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia	OMIM:276600
Wilson Disease	Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Edema, Ascites, Hyperbilirubinemia, Hyp...	OMIM:277900
Diencephalic Syndrome	Cachexia, Long penis, Decreased body weight	ORPHA:1672
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Failure to thrive	ORPHA:476126
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Hereditary Orotic Aciduria	Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria	ORPHA:30
Whipple Disease	Hyponatremia, Polydipsia, Pedal edema, Anorexia	ORPHA:3452
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis, Polydipsia, Hypokalemia, Increased C-peptide level	ORPHA:769
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting, Dehydration	OMIM:300200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration	ORPHA:1933
Multiple Endocrine Neoplasia Type 2	Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Elevated urinary c...	ORPHA:653
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Nephroblastoma	Hematuria, Weight loss, Nephroblastoma	ORPHA:654
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy...	ORPHA:94089
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Late-Onset Isolated Acth Deficiency	Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hypercalcemia	ORPHA:199299
Cholera	Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, D...	ORPHA:173
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Generalized Pustular Psoriasis	Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C...	ORPHA:247353
Pediatric-Onset Graves Disease	Polyphagia, Oligohydramnios, Polydipsia, Hyperactivity	ORPHA:525731
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Failure to ...	ORPHA:534
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Oliguria, Anorexia	ORPHA:514
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia	ORPHA:352540
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria, Hyperornithinemia	ORPHA:414
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Pearson Syndrome	Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Proteinuria, Renal cy...	ORPHA:699
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural e...	ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Liposarcoma	Weight loss, Abnormality of the kidney	ORPHA:69078
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Polyhydramnios, Reduced renal corticomedullary differentiation	OMIM:618541
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Chronic Hiccup	Weight loss	ORPHA:396
Familial Glucocorticoid Deficiency	Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Anorexia, Renal salt wasting, H...	ORPHA:361
Diffuse Cutaneous Systemic Sclerosis	Xerostomia, Oliguria, Renal insufficiency, Dysphagia	ORPHA:220393
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Failure to thrive, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Lassa Fever	Facial edema, Oliguria, Dysphagia	ORPHA:99824
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco...	ORPHA:436271
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce...	ORPHA:159
Leprechaunism	Nephrocalcinosis, Long penis, Failure to thrive, Decreased body weight, Hypokalemia, Hypercalciur...	ORPHA:508
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter...	ORPHA:1578
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Pseudo-Torch Syndrome 2	Ascites, Abnormal renal corticomedullary differentiation, Pleural effusion	OMIM:617397
Isaacs Syndrome	Weight loss	ORPHA:84142
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Pulmonary edema, Addicti...	ORPHA:31826
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Holocarboxylase Synthetase Deficiency	Organic aciduria, Weight loss, Hyperammonemia	ORPHA:79242
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Polydipsia, Hyperlipidemia, Hyponatremia, Polyphagia, Aggressive behavio...	ORPHA:293987
Citrullinemia, Type Ii, Adult-Onset	Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Cerebral edema, Argininosuccinic aciduria...	OMIM:603471
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Gracile Bone Dysplasia	Micropenis, Hypocalcemia, Failure to thrive	OMIM:602361
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Weight loss, Hypercalcemia	ORPHA:913
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Polyhydramnios, Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria	ORPHA:90060
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, A...	OMIM:307800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Mulibrey Nanism	Cachexia	ORPHA:2576
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hydroneph...	OMIM:617913
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperactivity, Hyperechogenic kidneys	OMIM:620047
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco...	OMIM:220110
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Vesicoureteral reflux, Hydronephros...	ORPHA:2237
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the kidney	ORPHA:767
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney, Dehydration	ORPHA:634
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Oliguria, Renal insufficiency	ORPHA:727
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia, Nephrolithiasis	ORPHA:93160
X-Linked Agammaglobulinemia	Weight loss, Hypocalcemia, Failure to thrive	ORPHA:47
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ...	OMIM:252150
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Osteootohepatoenteric Syndrome	Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Proteinuria, Grade II ve...	OMIM:619377
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Beckwith-Wiedemann Syndrome	Nephropathy, Obesity, Large for gestational age, Vesicoureteral reflux, Nephroblastoma, Nephrolit...	ORPHA:116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Aneurysm Of Sinus Of Valsalva	Oliguria, Edema	ORPHA:1054
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati...	ORPHA:42
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia, Failure to thrive	OMIM:600081
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ...	ORPHA:49041
Adrenocortical Carcinoma	Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis, Increased body w...	ORPHA:1501
Sialidosis Type 1	Aminoaciduria, Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosac...	ORPHA:812
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Dehydration...	ORPHA:90791
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Majeed Syndrome	Failure to thrive, Proteinuria, Glomerulopathy, Cachexia, Weight loss, Microscopic hematuria	ORPHA:77297
Cystic Fibrosis	Hypercalciuria, Dehydration	OMIM:219700
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni...	ORPHA:171876
Argininemia	Oroticaciduria, Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Diaminoaciduria	OMIM:207800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Pseudohypoparathyroidism, Type Ia	Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Obesity, Hyperphospha...	OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Sarcoidosis	Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Weight loss, Tubulointers...	ORPHA:797
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Abn...	ORPHA:289176
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Hypercalcemia, Weight loss, Nephrolithiasis	ORPHA:652
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome	ORPHA:330001
Williams Syndrome	Failure to thrive in infancy, Obesity, Renal insufficiency, Renal duplication, Multiple renal cys...	ORPHA:904
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Failure to thrive, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the kidney	ORPHA:54251
Infection-Related Hemolytic Uremic Syndrome	Generalized edema, Acute kidney injury, Oliguria, Anuria, Edema, Hypocalcemia, Hyponatremia, Decr...	ORPHA:544482
Williams-Beuren Syndrome	Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thri...	OMIM:194050
Lujo Hemorrhagic Fever	Facial edema, Periorbital edema, Generalized edema, Oliguria, Renal insufficiency, Dysphagia, Ele...	ORPHA:319213
Vipoma	Hypokalemia, Weight loss, Hypercalcemia	ORPHA:97282
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Hypocalcemia, Micropenis, Hypospadias, Small for gestational age	OMIM:607143
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy...	ORPHA:90795
Ppoma	Weight loss, Hypercalcemia	ORPHA:97278
Moynahan Syndrome	Cachexia	ORPHA:2574
D-Glyceric Aciduria	Aminoaciduria, Tongue thrusting, Micropenis, Elevated circulating D-glyceric concentration, Nonke...	OMIM:220120
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Hypercalciuria, Pleural effusion, Anorexia	OMIM:181000
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,...	OMIM:229600
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:163200
Zttk Syndrome	Horseshoe kidney, Unilateral renal agenesis, Polyuria	OMIM:617140
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Huntington Disease-Like 2	Weight loss	OMIM:606438
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria, Methyl...	OMIM:612073
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ...	ORPHA:26793
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia	ORPHA:276152
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss	ORPHA:2126
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Lipodystrophy, Familial Partial, Type 7	Pleural effusion, Hypercholesterolemia, Polyuria, Hypertriglyceridemia, Dysphagia	OMIM:606721
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	ORPHA:79444
Somatostatinoma	Weight loss, Hypercalcemia	ORPHA:97283
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria, Hyperammonemia, Increased circulating argininosuccinic acid, Hyper...	OMIM:207900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Oligohydramnios, Fetal mega...	OMIM:619351
Fatal Familial Insomnia	Weight loss, Urinary retention	OMIM:600072
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ...	OMIM:619488
Al Amyloidosis	Hypoalbuminemia, Renal insufficiency, Proteinuria, Increased circulating NT-proBNP concentration,...	ORPHA:85443
Grfoma	Weight loss, Hypercalcemia	ORPHA:97261
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tra...	OMIM:619487
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Lysosomal Acid Lipase Deficiency	Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Hyponatremia, Cachexia...	ORPHA:275761
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Weight loss, Hydronephrosis	ORPHA:449400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur...	ORPHA:168558
Cornelia De Lange Syndrome 1	Self-injurious behavior, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesico...	OMIM:122470
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Renal m...	OMIM:277000
Brain-Lung-Thyroid Syndrome	Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking behavior, Hyperact...	ORPHA:209905
Yao Syndrome	Weight loss, Nephrolithiasis	OMIM:617321
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur...	ORPHA:289548
Glucagonoma	Weight loss, Hypercalcemia	ORPHA:97280
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Kenny-Caffey Syndrome, Type 2	Small for gestational age, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Vesicoureteral reflux	ORPHA:3208
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Abnormal circulating lipid concentration, Hyperlipoproteinemia	ORPHA:1979
Timothy Syndrome	Hypocalcemia	OMIM:601005
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Osteogenesis Imperfecta	Hypercalciuria, Small for gestational age, Nephrolithiasis	ORPHA:666
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria	ORPHA:71273
Sanjad-Sakati Syndrome	Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Juvenile Huntington Disease	Weight loss	ORPHA:248111
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria...	ORPHA:1018
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio...	ORPHA:36234
Castleman Disease	Ureteral obstruction, Renal insufficiency, Hematuria, Weight loss, Elevated circulating C-reactiv...	ORPHA:160
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Glomerulonephritis, Tubu...	ORPHA:470
Follicular Lymphoma	Weight loss	ORPHA:545
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Failure to thrive	OMIM:259700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis	OMIM:616084
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Elevated hepatic iron concentration	OMIM:614946
Pleural Mesothelioma	Weight loss	ORPHA:50251
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia	OMIM:235255
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla...	ORPHA:449395
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Tuberous Sclerosis 2	Renal angiomyolipoma, Attention deficit hyperactivity disorder, Renal cyst, Renal cell carcinoma,...	OMIM:613254
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Opsismodysplasia	Renal phosphate wasting, Oligohydramnios, Hypophosphatemia, Polyhydramnios, Edema	OMIM:258480
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Elevated circulating long chain fatty acid concentration, Palpebral edema, Polycys...	OMIM:214110
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Simple Cryoglobulinemia	Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight loss, Abnormality...	ORPHA:91139
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype...	ORPHA:90041
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Renal tubular dysfunction, Abnorm...	ORPHA:99885
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index	ORPHA:399
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure, Edema	ORPHA:90051
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hydronephrosis, Abnormal renal morphology, Micropenis, Hypoproteinemia	ORPHA:1655
Celiac Disease, Susceptibility To, 1	Weight loss, Hypocalcemia, Failure to thrive	OMIM:212750
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Nephrotic syndrome, Weight loss, Renal insufficiency	ORPHA:139402
Perry Syndrome	Weight loss	ORPHA:178509
Double Outlet Right Ventricle	Hypocalcemia, Failure to thrive	ORPHA:3426
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage...	OMIM:309000
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia	OMIM:610965
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	ORPHA:79443
Pyomyositis	Weight loss, Renal insufficiency	ORPHA:764
Pfapa Syndrome	Weight loss	ORPHA:42642
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss, Hyperalaninemia	ORPHA:298
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Proteinur...	ORPHA:829
Secondary Short Bowel Syndrome	Abnormal blood ion concentration, Low plasma citrulline, Weight loss, Failure to thrive	ORPHA:95427
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia	ORPHA:2070
Beta-Ketothiolase Deficiency	Weight loss, Ketonuria, Hyperammonemia, Hyperuricemia	ORPHA:134
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Macular edema, Sterile pyuria, Beta 2-microglobulinuria, Anorexia, Elevated circul...	ORPHA:91500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Failure to thrive, Hypomagnesemia, Hypocalcemia, Micropenis, Pelvic ki...	OMIM:619503
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra...	ORPHA:2298
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Tubulointerstitial neph...	ORPHA:183
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Ascites, Hyperbilirubinemia, Bilateral fetal py...	OMIM:606812
Mccune-Albright Syndrome	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Renal tubular dysfunction	ORPHA:562
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Renpenning Syndrome	Cachexia, Hypospadias	ORPHA:3242
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal...	OMIM:118450
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria, Edema	ORPHA:97292
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Elevated ...	ORPHA:2785
Mcdonough Syndrome	Cachexia	ORPHA:2471
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia	ORPHA:2494
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Oroticaciduria, Stag...	OMIM:222700
Imerslund-Gräsbeck Syndrome	Proteinuria, Weight loss, Failure to thrive	ORPHA:35858
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin...	ORPHA:466650
Polymyositis	Abnormal renal tubule morphology, Weight loss, Elevated circulating creatine kinase concentration	ORPHA:732
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive	ORPHA:1842
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypoalbuminemia	OMIM:619055
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Abnormality of the urinary system	ORPHA:702
Kanzaki Disease	Aminoaciduria, Increased urinary O-linked sialopeptides, Lymphedema	OMIM:609242
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Cap Polyposis	Weight loss	ORPHA:160148
Cranioectodermal Dysplasia 1	Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Aredyld Syndrome	Abnormality of the ureter, Cachexia	ORPHA:1133
Sotos Syndrome	Hypospadias, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction o...	ORPHA:821
Thymic Carcinoma	Weight loss	ORPHA:99868
Christianson Syndrome	Cachexia	ORPHA:85278
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Hypocalcemia, Failure to thrive	ORPHA:175
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss, Organic aciduria, Increased erythrocyte protoporphyrin concentration	OMIM:301310
Graves Disease	Weight loss	OMIM:275000
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Osteosarcoma	Weight loss	ORPHA:668
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hydronephrosis, Dysphagia, Elevated circulating long chain fatty acid concentratio...	OMIM:214100
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hyperkalemia, Hypernatriuria, Hyponatremia, Urogenital sinus anomaly, Renal salt wast...	ORPHA:90794
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Cystic Echinococcosis	Renal cyst, Hyperbilirubinemia, Membranous nephropathy, Weight loss	ORPHA:400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Acute Promyelocytic Leukemia	Hematuria, Weight loss	ORPHA:520
Chronic Beryllium Disease	Weight loss	ORPHA:133
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Hyperammonemia, Hyperuricemia, Weight loss	ORPHA:20
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated transferrin saturation, Weight loss, Increased circulat...	ORPHA:465508
Anemia, Congenital Dyserythropoietic, Type Iv	Hyperbilirubinemia, Reduced haptoglobin level, Weight loss, Micropenis, Unconjugated hyperbilirub...	OMIM:613673
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Recurrent urinary tract infections, Slender build, Hypocalcem...	OMIM:613658
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Takayasu Arteritis	Weight loss	ORPHA:3287
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia	OMIM:300712
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Interstitial Lung And Liver Disease	Aminoaciduria, Hyperammonemia	OMIM:615486
Giant Cell Arteritis	Hematuria, Weight loss, Renal insufficiency	ORPHA:397
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias	ORPHA:163979
Felty Syndrome	Weight loss, Recurrent urinary tract infections	ORPHA:47612
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Kaposi Sarcoma	Weight loss	ORPHA:33276
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Bullous Pemphigoid	Weight loss	ORPHA:703
Wilson Disease	Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
Lymphoid Interstitial Pneumonia	Weight loss, Enlarged kidney, Failure to thrive	ORPHA:79128
X-Linked Creatine Transporter Deficiency	Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
19Q13.11 Microdeletion Syndrome	Cachexia, Hypospadias, Failure to thrive	ORPHA:217346
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Silver-Russell Syndrome	Abnormality of the urinary system, Failure to thrive in infancy, Obesity, Cachexia, Hypospadias	ORPHA:813
Yellow Fever	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R...	ORPHA:99829
Liver Disease, Severe Congenital	Aminoaciduria, Hypospadias, Failure to thrive, Increased circulating ferritin concentration, Recu...	OMIM:619991
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Postinfectious Vasculitis	Elevated haptoglobin level, Hematuria, Proteinuria, Abnormal circulating protein concentration, W...	ORPHA:48435
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Organic aciduria	ORPHA:85276
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, W...	ORPHA:900
Tetrasomy 12P	Cachexia	ORPHA:884
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Failure to thrive, Recurrent urinary tract infections	ORPHA:83471
Hennekam Syndrome	Horseshoe kidney, Ectopic kidney, Hypocalcemia	ORPHA:2136
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Hypospadias	ORPHA:251071
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Stevens-Johnson Syndrome	Dysuria, Weight loss, Renal insufficiency, Abnormality of the urethra	ORPHA:36426
Caroli Disease	Polycystic kidney dysplasia, Weight loss, Conjugated hyperbilirubinemia	ORPHA:53035
Thymoma	Weight loss, Glomerulonephritis	ORPHA:99867
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Slender build, Cachexia, Weight loss, Elevated c...	OMIM:603041
22Q11.2 Deletion Syndrome	Renal hypoplasia, Failure to thrive, Obesity, Vesicoureteral reflux, Hypocalcemia, Multiple renal...	ORPHA:567
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Weight loss, Elevated circulating alpha-fetoprotein concent...	ORPHA:370348
Perry Syndrome	Weight loss	OMIM:168605
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Joint swelling, Nephrolithiasis	ORPHA:56
Oromandibular Dystonia	Weight loss	ORPHA:93958
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Congenital Tufting Enteropathy	Weight loss, Failure to thrive	ORPHA:92050
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Increased circulating surfactant protein level, Weight loss	ORPHA:60025
Gm1 Gangliosidosis	Weight loss, Failure to thrive	ORPHA:354
Loeffler Endocarditis	Weight loss	ORPHA:75566
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder	ORPHA:411602
Wolman Disease	Cachexia	ORPHA:75233
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Riddle Syndrome	Enuresis nocturna, Weight loss, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Weight loss, Lupus nephritis, Pyuria	ORPHA:536
Juvenile Dermatomyositis	Elevated circulating C-reactive protein concentration, Weight loss, Calcinosis, Elevated circulat...	ORPHA:93672
Malignant Atrophic Papulosis	Weight loss, Abnormality of the lower urinary tract	ORPHA:679
Pneumocystosis	Weight loss	ORPHA:723
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Obesity	ORPHA:85293
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Short Syndrome	Weight loss	ORPHA:3163
Q Fever	Hematuria, Weight loss	ORPHA:781
Hermansky-Pudlak Syndrome	Weight loss, Renal insufficiency	ORPHA:79430
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Pemphigus Vulgaris	Weight loss	ORPHA:704
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Hypertyrosinemia, Aminoaciduria, Lacticaciduria	OMIM:124000
Klatskin Tumor	Weight loss	ORPHA:99978
Familial Colorectal Cancer Type X	Weight loss, Abnormal circulating creatine concentration	ORPHA:440437
Digeorge Syndrome	Unilateral renal agenesis, Obesity, Renal insufficiency, Hypocalcemia, Hydronephrosis, Renal dysp...	OMIM:188400
Primary Myelofibrosis	Cachexia	ORPHA:824
Aicardi-Goutieres Syndrome 7	Nephrotic syndrome, Weight loss, Increased circulating ferritin concentration	OMIM:615846
Alveolar Echinococcosis	Abnormal bladder morphology, Renal cyst, Weight loss	ORPHA:284
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Acrodermatitis Enteropathica	Weight loss, Failure to thrive	ORPHA:37
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Microsporidiosis	Nephritis, Urethritis, Abnormality of the urinary system physiology, Cachexia, Weight loss	ORPHA:2552
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi...	ORPHA:84
Primary Sclerosing Cholangitis	Hypoalbuminemia, Weight loss, Renal insufficiency	ORPHA:171
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Mildly elevated creatine kinase	OMIM:607459
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephrocalcinosis, Hypophosphatemi...	ORPHA:51608
Rett Syndrome	Cachexia	OMIM:312750
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Hyperuricemia, Proteinuria, Cac...	ORPHA:191
Schwartz-Jampel Syndrome	Abnormality of the urinary system, Abnormality of the ureter, Decreased body weight, Nephrolithia...	ORPHA:800
Xeroderma Pigmentosum	Aminoaciduria	ORPHA:910
Reactive Arthritis	Weight loss, Recurrent urinary tract infections	ORPHA:29207
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Brucellosis	Failure to thrive, Intrarenal abscess, Weight loss, Glomerulonephritis, Elevated circulating C-re...	ORPHA:1304
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Poems Syndrome	Weight loss	ORPHA:2905
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Hypocalcemia	OMIM:620330
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Pancreatoblastoma	Weight loss	ORPHA:677
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract, Cachexia	ORPHA:3380
Johanson-Blizzard Syndrome	Small for gestational age, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentrat...	OMIM:243800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Oculopharyngodistal Myopathy 1	Weight loss, Elevated circulating creatine kinase concentration	OMIM:164310
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Behçet Disease	Glomerulopathy, Weight loss, Renal insufficiency	ORPHA:117
Polycythemia Vera	Weight loss	ORPHA:729
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hypocalcemia, Hydronephrosis, Micropenis	OMIM:214800
Familial Thrombocytosis	Weight loss	ORPHA:71493
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Tropical Pancreatitis	Weight loss	ORPHA:103918
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Nijmegen Breakage Syndrome	Cachexia, Pollakisuria	ORPHA:647
Lynch Syndrome	Renal neoplasm, Weight loss	ORPHA:144
Chronic Graft Versus Host Disease	Hematuria, Urinary bladder inflammation, Weight loss, Phimosis	ORPHA:99921
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Weight loss	ORPHA:79078
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Weight loss, Hypernatremia, Hypoalbuminemia	OMIM:619381
Mucolipidosis Type Ii	Weight loss	ORPHA:576
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Camurati-Engelmann Disease	Slender build, Cachexia, Urinary retention	ORPHA:1328
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia	ORPHA:79076
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Immunodeficiency 31C	Weight loss	OMIM:614162
Malt Lymphoma	Weight loss	ORPHA:52417
Seckel Syndrome	Cachexia	ORPHA:808
Rat-Bite Fever	Weight loss	ORPHA:31205
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	ORPHA:2020
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:50918
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ...	ORPHA:99889
African Trypanosomiasis	Urinary incontinence, Weight loss, Renal insufficiency	ORPHA:3385
Dermatomyositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:221
Choreoacanthocytosis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:2388
Nocardiosis	Weight loss	ORPHA:31204
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Proteus Syndrome	Renal cyst, Cachexia, Long penis, Enlarged kidney	ORPHA:744
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia	ORPHA:2072
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Cachexia	ORPHA:75565
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649

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 Akr1b1

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 Akr1b1.

No publications found that use IMPC mice or data for Akr1b1.

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
Akr1b1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Akr1b1^em1(IMPC)Bay	Exon Deletion	Mice
Akr1b1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Akr1b1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	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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Gene: Akr1b1 MGI:1353494

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Akr1b1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data