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Gene: Akr1b1 MGI:1353494

Gene Summary

Name:

aldo-keto reductase family 1 member B

Synonyms:

ALR2, AR, Aldor1, 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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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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 left fundus

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right eye

14 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 (803 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	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria	OMIM:145980
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive	OMIM:239199
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal...	OMIM:617671
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu...	OMIM:612780
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive	OMIM:602722
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ...	OMIM:602522
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium...	OMIM:613090
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Central Diabetes Insipidus	Hyponatremia, Anorexia, Dehydration, Polydipsia, Nocturia	ORPHA:178029
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ...	OMIM:263800
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Anorexia, Polyhydramnios, Functional...	ORPHA:223
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu...	ORPHA:199343
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder	OMIM:204750
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia	OMIM:304800
Carnosinemia	Carnosinuria	OMIM:212200
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Cystinosis	Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Hypokale...	ORPHA:213
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Adamantinoma	Hypercalcemia	ORPHA:55881
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia, Micropenis, Hypospadias, Hypercalciuria	OMIM:614732
Hyper-Beta-Alaninemia	Increased urinary taurine, Hyperbeta-alaninemia	OMIM:237400
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phenylketonuria	Aminoaciduria	ORPHA:716
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Rhabdoid Tumor	Hematuria, Renal neoplasm, Hypercalcemia, Weight loss	ORPHA:69077
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ...	OMIM:601678
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity, Hyperlysinuria	OMIM:238700
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri...	ORPHA:157215
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Homocarnosinosis	Carnosinuria	OMIM:236130
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium	ORPHA:231580
Familial Hyperaldosteronism Type Iii	Hypokalemia, Polydipsia, Hypercalciuria	ORPHA:251274
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
2P21 Microdeletion Syndrome	Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163693
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Polyhydramnios, Renal salt wasting,...	OMIM:241200
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo...	ORPHA:73224
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Galactosemia Iii	Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Small for gestational age, Hypercalciuria, Mucopolysacchariduria, ...	OMIM:618440
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia	OMIM:605899
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ...	ORPHA:358
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive	OMIM:610600
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive	OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig...	OMIM:219800
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
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
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Dehydration	OMIM:560000
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:99880
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Galactose Epimerase Deficiency	Aminoaciduria	ORPHA:79238
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E...	OMIM:605850
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi...	OMIM:619386
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:143
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Edema, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasi...	ORPHA:97362
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Polydipsia, Nephrolithiasis	ORPHA:369929
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Cystinuria	ORPHA:163690
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ...	OMIM:613159
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Weight loss	ORPHA:97289
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Anasarca, Hyp...	OMIM:618183
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Renal salt wasting	OMIM:264350
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abnormal temper tantrums, Atte...	ORPHA:73223
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate...	OMIM:619743
Multiple Myeloma	Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ...	ORPHA:29073
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Pulmonary Blastoma	Weight loss	ORPHA:64741
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Hypophosphatemia	ORPHA:89936
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting...	ORPHA:95409
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Pheochromocytoma	Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Tuberculosis	Weight loss	ORPHA:3389
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting	OMIM:614736
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia	ORPHA:172
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid...	OMIM:271980
Joubert Syndrome 6	Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Panhypophysitis	Hyponatremia, Polydipsia, Hyposthenuria	ORPHA:95513
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria	OMIM:606407
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine	OMIM:266130
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu...	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	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc...	OMIM:615398
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios	OMIM:267430
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t...	ORPHA:556037
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Attrv30M Amyloidosis	Nephropathy, Abnormal renal physiology, Weight loss	ORPHA:85447
Familial Cold Urticaria	Polydipsia, Dehydration	ORPHA:47045
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ...	OMIM:616026
Familial Isolated Hypoparathyroidism	Nephropathy, Hypocalcemia	ORPHA:2238
Galactosemia I	Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve...	OMIM:230400
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia	ORPHA:403
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur...	OMIM:208085
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Erdheim-Chester Disease	Renal insufficiency, Polydipsia, Dysuria, Joint swelling, Pleural effusion, Hydronephrosis	ORPHA:35687
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly...	ORPHA:3463
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Renal sodium wasting	ORPHA:556030
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ...	OMIM:277900
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ...	ORPHA:731
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota...	OMIM:616299
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ...	OMIM:263200
Pseudohypoparathyroidism, Type Ic	Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, ...	OMIM:612462
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia	ORPHA:537
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnor...	ORPHA:369837
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia	ORPHA:3157
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Addison Disease	Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Weigh...	ORPHA:85138
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Tubulointerstitial neph...	ORPHA:37042
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:36913
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Abnormal medullary pyramid morphology	ORPHA:79243
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur...	OMIM:613404
Joubert Syndrome 5	Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ...	OMIM:610188
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com...	OMIM:557000
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy...	OMIM:219730
Monosomy 13Q34	Fetal pyelectasis, Hypercalcemia, Obesity	ORPHA:96168
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Failure to thrive, Urinary incontinence	ORPHA:476126
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Systemic Capillary Leak Syndrome	Renal insufficiency, Pulmonary edema, Oliguria, Pedal edema, Pleural effusion, Abnormal renal tub...	ORPHA:188
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Adrenal Hypoplasia, Congenital	Hyponatremia, Dehydration, Renal salt wasting	OMIM:300200
Rabson-Mendenhall Syndrome	Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level	ORPHA:769
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Failure to thrive	ORPHA:199299
Whipple Disease	Hyponatremia, Polydipsia, Anorexia, Pedal edema	ORPHA:3452
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper...	ORPHA:653
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Nephroblastoma	Hematuria, Nephroblastoma, Weight loss	ORPHA:654
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo...	ORPHA:173
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Polyphagia, Oligohydramnios	ORPHA:525731
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub...	ORPHA:534
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Oliguria, Anorexia	ORPHA:514
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion, Acute kidney...	ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Pearson Syndrome	Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena...	ORPHA:699
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Polyhydramnios	OMIM:618541
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Chronic Hiccup	Weight loss	ORPHA:396
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, H...	OMIM:307800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Enuresis, Self-injurious behavio...	ORPHA:293987
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures	OMIM:264700
Leprechaunism	Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Dec...	ORPHA:508
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Xerostomia, Oliguria, Dysphagia	ORPHA:220393
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp...	ORPHA:361
Lassa Fever	Facial edema, Oliguria, Dysphagia	ORPHA:99824
Pseudo-Torch Syndrome 2	Pleural effusion, Ascites, Abnormal renal corticomedullary differentiation	OMIM:617397
Isaacs Syndrome	Weight loss	ORPHA:84142
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Holocarboxylase Synthetase Deficiency	Organic aciduria, Hyperammonemia, Weight loss	ORPHA:79242
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm...	OMIM:603471
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc...	ORPHA:1578
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Weight loss	ORPHA:913
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ...	ORPHA:340
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231625
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Polyhydramnios	OMIM:300990
Gracile Bone Dysplasia	Micropenis, Failure to thrive, Hypocalcemia	OMIM:602361
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a...	OMIM:617913
Mulibrey Nanism	Cachexia	ORPHA:2576
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity	OMIM:620047
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94089
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Polyarteritis Nodosa	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d...	ORPHA:2237
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures	ORPHA:289157
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Nephrolithiasis, Hypophosphatemia	ORPHA:93160
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Weight loss	ORPHA:47
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational...	ORPHA:116
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney	ORPHA:634
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Dehydration, Hemoglobinuria,...	ORPHA:90038
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria	OMIM:207800
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss	ORPHA:90060
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina...	ORPHA:42
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ...	OMIM:619377
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of...	ORPHA:1501
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r...	ORPHA:90791
Aneurysm Of Sinus Of Valsalva	Oliguria, Edema	ORPHA:1054
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Hypercalce...	OMIM:194050
Majeed Syndrome	Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Hypercalcemia, Nephrolithiasis, Weight loss	ORPHA:652
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni...	ORPHA:171876
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administr...	OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Sarcoidosis	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosi...	ORPHA:797
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:54251
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Edema, Hyperkalemia, Oliguria, Pleural empyema, Hypocalcemia, Acute kidney ...	ORPHA:544482
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
D-Glyceric Aciduria	Aminoaciduria, Tongue thrusting, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R...	ORPHA:289176
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypospadias, Hypocalcemia, Micropenis, Failure to thrive	OMIM:607143
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr...	ORPHA:90795
Lujo Hemorrhagic Fever	Renal insufficiency, Elevated circulating C-reactive protein concentration, Facial edema, Periorb...	ORPHA:319213
Moynahan Syndrome	Cachexia	ORPHA:2574
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Vipoma	Hypokalemia, Hypercalcemia, Weight loss	ORPHA:97282
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methyl...	OMIM:612073
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia	ORPHA:276152
Cystic Fibrosis	Hypercalciuria, Dehydration	OMIM:219700
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Hypercalciuria, Anorexia	OMIM:181000
Huntington Disease-Like 2	Weight loss	OMIM:606438
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Pseudohypoparathyroidism Type 1C	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi...	ORPHA:79444
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss	ORPHA:2126
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Somatostatinoma	Hypercalcemia, Weight loss	ORPHA:97283
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity, Oligohydr...	OMIM:619351
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Dysphagia, Hypercholesterolemia, Pleural effusion	OMIM:606721
Argininosuccinic Aciduria	Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, ...	OMIM:207900
Yao Syndrome	Nephrolithiasis, Weight loss	OMIM:617321
Fatal Familial Insomnia	Urinary retention, Weight loss	OMIM:600072
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Edema, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduce...	OMIM:266920
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Oral-pharyngeal dysph...	OMIM:619488
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati...	ORPHA:168558
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen...	ORPHA:275761
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t...	ORPHA:85443
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Glucagonoma	Hypercalcemia, Weight loss	ORPHA:97280
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati...	ORPHA:289548
Igg4-Related Aortitis	Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:449400
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Acute Promyelocytic Leukemia	Hematuria, Addictive alcohol use, Anorexia	ORPHA:520
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Weight loss	ORPHA:3208
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hypocalcemia	OMIM:259700
Sanjad-Sakati Syndrome	Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Small for gestational age, Hypocalcemia	OMIM:127000
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria	ORPHA:71273
Osteogenesis Imperfecta	Hypercalciuria, Small for gestational age, Nephrolithiasis	ORPHA:666
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating...	ORPHA:36234
Timothy Syndrome	Hypocalcemia	OMIM:601005
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Elevated hepatic iron concentration	OMIM:614946
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Follicular Lymphoma	Weight loss	ORPHA:545
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia	OMIM:235255
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Attention de...	OMIM:613254
Peroxisome Biogenesis Disorder 2A (Zellweger)	Elevated circulating long chain fatty acid concentration, Aminoaciduria, Palpebral edema, Polycys...	OMIM:214110
Opsismodysplasia	Polyhydramnios, Edema, Renal phosphate wasting, Hypophosphatemia, Oligohydramnios	OMIM:258480
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure, Edema	ORPHA:90051
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Celiac Disease, Susceptibility To, 1	Failure to thrive, Hypocalcemia, Weight loss	OMIM:212750
Pleural Mesothelioma	Weight loss	ORPHA:50251
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri...	ORPHA:160
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Pseudohypoparathyroidism Type 1A	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi...	ORPHA:79443
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis	ORPHA:1655
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Gaisböck Syndrome	Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r...	ORPHA:90041
Perry Syndrome	Weight loss	ORPHA:178509
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss	ORPHA:139402
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Pyomyositis	Renal insufficiency, Weight loss	ORPHA:764
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive	OMIM:610965
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hyperalaninemia, Cachexia, Weight loss	ORPHA:298
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Pfapa Syndrome	Weight loss	ORPHA:42642
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ...	ORPHA:99885
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Secondary Short Bowel Syndrome	Failure to thrive, Low plasma citrulline, Abnormal blood ion concentration, Weight loss	ORPHA:95427
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ...	ORPHA:91500
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Mccune-Albright Syndrome	Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hypophosphatemia	ORPHA:562
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body...	ORPHA:2298
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido...	ORPHA:2785
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2070
Beta-Ketothiolase Deficiency	Ketonuria, Hyperuricemia, Hyperammonemia, Weight loss	ORPHA:134
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5...	OMIM:118450
Renpenning Syndrome	Hypospadias, Cachexia	ORPHA:3242
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph...	ORPHA:183
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Unilateral renal agenesis, Urinary urgency, Hypocalcemia, Hypomagnesemia, Micr...	OMIM:619503
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydramnios, Elevated urine fuma...	OMIM:606812
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Hype...	OMIM:222700
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Mcdonough Syndrome	Cachexia	ORPHA:2471
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Polymyositis	Weight loss, Elevated circulating creatine kinase concentration, Abnormal renal tubule morphology	ORPHA:732
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia	ORPHA:702
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Cap Polyposis	Weight loss	ORPHA:160148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Aredyld Syndrome	Abnormality of the ureter, Cachexia	ORPHA:1133
Bullous Pemphigoid	Weight loss	ORPHA:703
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria, Lymphedema	OMIM:609242
Christianson Syndrome	Cachexia	ORPHA:85278
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Osteosarcoma	Weight loss	ORPHA:668
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Elevated circulating long chain fatty acid co...	OMIM:214100
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Alkaptonuria	Joint swelling, Aminoaciduria, Nephrolithiasis	ORPHA:56
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Thymic Carcinoma	Weight loss	ORPHA:99868
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated urinary epineph...	ORPHA:90794
Cystic Echinococcosis	Membranous nephropathy, Hyperbilirubinemia, Renal cyst, Weight loss	ORPHA:400
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Cartilage-Hair Hypoplasia	Failure to thrive, Mucopolysacchariduria, Hypocalcemia	ORPHA:175
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Hyperuricemia	ORPHA:20
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,...	OMIM:233450
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:465508
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduce...	OMIM:613673
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Takayasu Arteritis	Weight loss	ORPHA:3287
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, Hematuria, Incr...	ORPHA:60025
Craniofacioskeletal Syndrome	Hypocalcemia, Hypospadias, Hydronephrosis	OMIM:300712
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unc...	OMIM:613658
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Chronic Beryllium Disease	Weight loss	ORPHA:133
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis	ORPHA:163979
Pemphigus Vulgaris	Weight loss	ORPHA:704
Giant Cell Arteritis	Hematuria, Renal insufficiency, Weight loss	ORPHA:397
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Felty Syndrome	Recurrent urinary tract infections, Weight loss	ORPHA:47612
Interstitial Lung And Liver Disease	Aminoaciduria, Hyperammonemia	OMIM:615486
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Kaposi Sarcoma	Weight loss	ORPHA:33276
Wilson Disease	Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:99829
Lymphoid Interstitial Pneumonia	Failure to thrive, Enlarged kidney, Weight loss	ORPHA:79128
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Liver Disease, Severe Congenital	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro...	OMIM:619991
Silver-Russell Syndrome	Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system	ORPHA:813
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Postinfectious Vasculitis	Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria...	ORPHA:48435
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Recurrent urinary tract infections, Failure to thrive	ORPHA:83471
Tetrasomy 12P	Cachexia	ORPHA:884
Hennekam Syndrome	Hypocalcemia, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react...	ORPHA:900
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k...	ORPHA:53035
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Familial Colorectal Cancer Type X	Renal neoplasm, Abnormal circulating creatine concentration, Weight loss	ORPHA:440437
8P23.1 Microdeletion Syndrome	Hypospadias, Obesity, Weight loss	ORPHA:251071
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh...	ORPHA:370348
Thymoma	Glomerulonephritis, Weight loss	ORPHA:99867
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
22Q11.2 Deletion Syndrome	Hypospadias, Renal hypoplasia, Obesity, Multiple renal cysts, Hypocalcemia, Polycystic kidney dys...	ORPHA:567
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Dysuria, Weight loss	ORPHA:36426
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Perry Syndrome	Weight loss	OMIM:168605
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Oromandibular Dystonia	Weight loss	ORPHA:93958
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Gm1 Gangliosidosis	Failure to thrive, Weight loss	ORPHA:354
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Loeffler Endocarditis	Weight loss	ORPHA:75566
Primary Hepatic Neuroendocrine Carcinoma	Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We...	ORPHA:100085
Wolman Disease	Cachexia	ORPHA:75233
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Riddle Syndrome	Weight loss, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna	ORPHA:420741
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Juvenile Dermatomyositis	Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p...	ORPHA:93672
Malignant Atrophic Papulosis	Abnormality of the lower urinary tract, Weight loss	ORPHA:679
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Obesity, Cachexia	ORPHA:85293
Short Syndrome	Weight loss	ORPHA:3163
Pneumocystosis	Weight loss	ORPHA:723
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria	OMIM:124000
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Q Fever	Hematuria, Weight loss	ORPHA:781
Hermansky-Pudlak Syndrome	Renal insufficiency, Weight loss	ORPHA:79430
Klatskin Tumor	Weight loss	ORPHA:99978
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Digeorge Syndrome	Renal insufficiency, Unilateral renal agenesis, Obesity, Hydronephrosis, Hypocalcemia, Renal dysp...	OMIM:188400
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Alveolar Echinococcosis	Abnormal bladder morphology, Renal cyst, Weight loss	ORPHA:284
Aicardi-Goutieres Syndrome 7	Nephrotic syndrome, Increased circulating ferritin concentration, Weight loss	OMIM:615846
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Primary Myelofibrosis	Cachexia	ORPHA:824
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Microsporidiosis	Cachexia, Urethritis, Weight loss, Abnormality of the urinary system physiology, Nephritis	ORPHA:2552
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Primary Sclerosing Cholangitis	Renal insufficiency, Hypoalbuminemia, Weight loss	ORPHA:171
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Edema, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Nephrocalcinosis...	ORPHA:51608
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Rett Syndrome	Cachexia	OMIM:312750
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
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli...	ORPHA:800
Xeroderma Pigmentosum	Aminoaciduria	ORPHA:910
Reactive Arthritis	Recurrent urinary tract infections, Weight loss	ORPHA:29207
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Brucellosis	Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive protein concentrat...	ORPHA:1304
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Poems Syndrome	Weight loss	ORPHA:2905
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Hydronephrosis	OMIM:620330
Trisomy 18	Cachexia, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Johanson-Blizzard Syndrome	Hypospadias, Small for gestational age, Urethrovaginal fistula, Increased VLDL cholesterol concen...	OMIM:243800
Polycythemia Vera	Weight loss	ORPHA:729
Lynch Syndrome	Weight loss	ORPHA:144
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Behçet Disease	Glomerulopathy, Renal insufficiency, Weight loss	ORPHA:117
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Charge Syndrome	Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Hydronephrosis	OMIM:214800
Familial Thrombocytosis	Weight loss	ORPHA:71493
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Tropical Pancreatitis	Weight loss	ORPHA:103918
Nijmegen Breakage Syndrome	Pollakisuria, Cachexia	ORPHA:647
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Weight loss	ORPHA:79078
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Camurati-Engelmann Disease	Slender build, Urinary retention, Cachexia	ORPHA:1328
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:619381
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Mucolipidosis Type Ii	Weight loss	ORPHA:576
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Chronic Graft Versus Host Disease	Hematuria, Urinary bladder inflammation, Weight loss, Phimosis	ORPHA:99921
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia	ORPHA:79076
Malt Lymphoma	Weight loss	ORPHA:52417
Seckel Syndrome	Cachexia	ORPHA:808
Immunodeficiency 31C	Weight loss	OMIM:614162
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Rat-Bite Fever	Weight loss	ORPHA:31205
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
African Trypanosomiasis	Renal insufficiency, Urinary incontinence, Weight loss	ORPHA:3385
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ...	ORPHA:99889
Dermatomyositis	Weight loss	ORPHA:221
Nocardiosis	Weight loss	ORPHA:31204
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:2388
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Proteus Syndrome	Cachexia, Long penis, Renal cyst	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	Failure to thrive, Cachexia	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

X-ray

X-ray

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Eye Morphology

Human diseases caused by Akr1b1 mutations

Histopathology

IMPC related publications

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