Gene Summary

Name:
aldo-keto reductase family 1, member B3 (aldose reductase)
Synonyms:
ALR2,  Aldor1,  AR,  Aldr1,  Ahr-1,  Ahr1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Akr1b3em1(IMPC)Bay HOM   Early adult 0.00

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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 eye

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Akr1b3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Akr1b3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia OMIM:145980
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:239199
Nephronophthisis 1
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... OMIM:256100
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... OMIM:619468
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... OMIM:145981
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... OMIM:143880
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia OMIM:222100
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Nephronophthisis 4
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:606966
Bartter Syndrome, Type 3
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Dehydration, Increased circula... OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula... OMIM:612780
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... ORPHA:93101
Nephronophthisis 3
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... OMIM:604387
Helix Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficienc... OMIM:617671
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis, Polydipsia OMIM:304900
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia OMIM:612286
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... ORPHA:99879
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... OMIM:266900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... OMIM:248250
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Polyhydramnios, Hyponat... OMIM:300971
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Saccharopinuria
Histidinuria, Citrullinuria, Elevated circulating sacchoropine concentration, Hyperlysinuria, Sac... OMIM:268700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Decreased circulating renin level OMIM:613677
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239510
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... ORPHA:94059
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Glucose-Galactose Malabsorption
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... ORPHA:35710
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Increas... OMIM:263800
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia OMIM:240150
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... OMIM:613845
East Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Increased circulating renin level, Renal m... ORPHA:199343
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... OMIM:248190
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephrogenic Diabetes Insipidus
Polydipsia, Hyposthenuria, Hydroureter, Hypernatremic dehydration, Hypernatremia, Functional abno... ORPHA:223
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Oligomeganephronia
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesi... ORPHA:2260
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis OMIM:125800
Carnosinemia
Carnosinuria OMIM:212200
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis OMIM:304800
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Central Diabetes Insipidus
Dehydration, Polydipsia, Nocturia, Hyponatremia ORPHA:178029
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circ... ORPHA:320
Camptodactyly 1
Increased urinary taurine OMIM:114200
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... ORPHA:1031
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis,... OMIM:239200
Pseudohypoparathyroidism, Type Ib
Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Cystinosis
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Dehydration,... ORPHA:213
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis OMIM:614732
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Phenylketonuria
Aminoaciduria ORPHA:716
Rhabdoid Tumor
Renal neoplasm, Weight loss, Hematuria, Hypercalcemia ORPHA:69077
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ... OMIM:603358
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... ORPHA:567548
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Polydipsia, Reduced renal corticomedullary differentiation... ORPHA:84081
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Hypercalciuria ORPHA:251274
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi... OMIM:601678
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Bartter Syndrome Type 4
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... ORPHA:89938
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... ORPHA:157215
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Distal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, De... ORPHA:18
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Homocarnosinosis
Carnosinuria OMIM:236130
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... ORPHA:94080
Proximal Renal Tubular Acidosis
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Hyperuricosuria, Dehydration, Glycosuria... ORPHA:47159
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Polydipsia, Hypokalemia, Increased urinary potassium ORPHA:231580
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Dehydration,... ORPHA:411629
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Bartter Syndrome, Type 2, Antenatal
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Polydipsia, Increased urinary potassium, Ren... OMIM:241200
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria ORPHA:163693
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciu... ORPHA:2088
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Hereditary Fructose Intolerance
Chronic kidney disease, Hypophosphatemia, Renal insufficiency, Hyperuricemia, Hypermagnesemia ORPHA:469
Nephronophthisis 15
Nephronophthisis OMIM:614845
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Hypophosphatasia, Infantile
Failure to thrive, Elevated plasma pyrophosphate, Phosphoethanolaminuria, Hypercalciuria, Hyperca... OMIM:241500
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Oculoskeletodental Syndrome
Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H... OMIM:618440
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... ORPHA:73224
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem... ORPHA:284426
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, F... OMIM:241530
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine OMIM:171420
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Hypercalciuria, Renal insufficiency, Hy... ORPHA:437
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, F... ORPHA:358
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:610600
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Cystinosis, Nephropathic
Polydipsia, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, ... OMIM:219800
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Edema, Stag... OMIM:615573
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:203400
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level OMIM:300539
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Polyhydramnios, Hy... OMIM:618183
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Polyuria, Proximal tubulopathy OMIM:560000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... OMIM:134600
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e... ORPHA:276621
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal ... ORPHA:99880
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis OMIM:156400
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia, Hypokalemia ORPHA:369929
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Parathyroid Carcinoma
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal ... ORPHA:143
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy... ORPHA:439232
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, Re... ORPHA:93111
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hyper... OMIM:239000
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... OMIM:605850
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Oligohydramnios, Elevated circulating creatinine... OMIM:616733
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Polyphagia, Cystinuria ORPHA:163690
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis ORPHA:428
Saccharopinuria
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Hyperlysinuria, Abnormality of circula... ORPHA:3124
Rhyns Syndrome
Chronic kidney disease, Renal insufficiency, Nephronophthisis OMIM:602152
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... ORPHA:31824
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Calcium nephrolithiasis ORPHA:97289
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular basement membrane disint... OMIM:613159
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... ORPHA:99845
Primary Hyperoxaluria
Failure to thrive, Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalci... ORPHA:416
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Eleva... OMIM:619743
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia ORPHA:89936
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:264350
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:398063
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Multiple Myeloma
Nephrotic syndrome, Hyperproteinemia, Nephropathy, Elevated circulating creatinine concentration,... ORPHA:29073
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... OMIM:616307
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Hypercalcem... ORPHA:29072
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concentration, Hyperglycinemi... OMIM:619386
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... OMIM:619902
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Pulmonary Blastoma
Weight loss ORPHA:64741
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... OMIM:241150
Acute Adrenal Insufficiency
Failure to thrive, Increased circulating renin level, Renal insufficiency, Hyponatremia, Hyperuri... ORPHA:95409
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic aciduria, Homocystinuria, Methylmalonic acidemia OMIM:309541
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss OMIM:612075
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Bence Jones Proteinuria ORPHA:100024
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Tuberculosis
Weight loss ORPHA:3389
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis OMIM:171300
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary retention, Transie... ORPHA:79102
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria OMIM:615398
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperka... ORPHA:556037
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... ORPHA:411536
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Cystine crystalluria OMIM:606407
Infantile Myofibromatosis
Abnormality of the kidney, Hypercalcemia ORPHA:2591
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Panhypophysitis
Hyposthenuria, Hyponatremia, Polydipsia ORPHA:95513
Galactosemia I
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... OMIM:230400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Dehydration, Tubulointerstitial fibrosis, Enla... OMIM:263200
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Oligohydramnios, Renotubular dysgenesis OMIM:267430
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary differentiation, Am... OMIM:208085
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Orthostatic Hypotension 1
Nocturia, Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Familial Cold Urticaria
Dehydration, Polydipsia ORPHA:47045
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... OMIM:616026
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Generali... OMIM:227810
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Attrv30M Amyloidosis
Weight loss, Nephropathy, Abnormal renal physiology ORPHA:85447
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia ORPHA:23
Wolfram Syndrome
Dysuria, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infections, Nephr... ORPHA:3463
Early-Onset Familial Hypoaldosteronism
Dehydration, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperkalemia ORPHA:556030
Erdheim-Chester Disease
Dysuria, Joint swelling, Polydipsia, Renal insufficiency, Hydronephrosis, Pleural effusion ORPHA:35687
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia, Hypocalcemia ORPHA:1438
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, E... ORPHA:731
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Familial Hypoaldosteronism
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... ORPHA:427
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... OMIM:277900
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Aminoaciduria OMIM:604273
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, St... OMIM:216360
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:90362
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Hypert... ORPHA:369837
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Methylmalonic acidemi... OMIM:612073
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Dysphagia, Renal hypoplasia, Hydronephrosis, Calcinosis OMIM:617913
Toxic Epidermal Necrolysis
Dysuria, Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia ORPHA:537
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated hyperbilirubinemia, Pr... OMIM:613404
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... OMIM:211900
Addison Disease
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... ORPHA:85138
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Autoimmune Hypoparathyroidism
Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Cachexia, Decreased prealbumin level, Membranou... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Hyperbilirubinemia, 3-Methylglutaric aciduria, Small for gestational age, Hype... OMIM:557000
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
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
Failure to thrive, Hypercalcemia, Urinary incontinence ORPHA:476126
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Aminoaciduria ORPHA:1933
Rabson-Mendenhall Syndrome
Polydipsia, Hypokalemia, Increased C-peptide level, Long penis, Nephrocalcinosis ORPHA:769
Systemic Capillary Leak Syndrome
Pulmonary edema, Abnormal renal tubule morphology, Oliguria, Pedal edema, Renal insufficiency, Pl... ORPHA:188
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Multiple Endocrine Neoplasia Type 2
Nephrolithiasis, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamines, Hyperca... ORPHA:653
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Nephroblastoma
Weight loss, Nephroblastoma, Hematuria ORPHA:654
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Dehydration, Abnormal blood ion concen... ORPHA:173
Whipple Disease
Polydipsia, Pedal edema, Hyponatremia ORPHA:3452
Adrenal Hypoplasia, Congenital
Dehydration, Hyponatremia, Renal salt wasting OMIM:300200
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A... ORPHA:94089
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Monosomy 13Q34
Fetal pyelectasis, Infantile hypercalcemia, Obesity ORPHA:96168
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hyponatremia, Hypercalcemia, Hyperuricemia, Weight loss ORPHA:199299
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic ac... OMIM:256700
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Arima Syndrome
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic kidney dysplasia... OMIM:243910
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney ... ORPHA:542323
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:352540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... OMIM:235400
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Small for gestationa... ORPHA:699
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Oligohydramnios ORPHA:525731
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria ORPHA:414
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Failure to thrive, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoacidu... ORPHA:534
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... OMIM:610188
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Huntington Disease-Like 2
Weight loss ORPHA:98934
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Reduced renal corticomedullary differentiation OMIM:618541
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Abnormality of medullary pyramid morphology ORPHA:79243
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... ORPHA:436271
Leprechaunism
Failure to thrive, Hypokalemia, Decreased body weight, Hypercalciuria, Long penis, Increased circ... ORPHA:508
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chronic Hiccup
Weight loss ORPHA:396
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Dysphagia, Xerostomia, Renal insufficiency ORPHA:220393
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Isaacs Syndrome
Weight loss ORPHA:84142
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss, Hypercalcemia ORPHA:913
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... ORPHA:103910
Lassa Fever
Oliguria, Dysphagia, Facial edema ORPHA:99824
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia OMIM:613239
Holocarboxylase Synthetase Deficiency
Organic aciduria, Weight loss, Hyperammonemia ORPHA:79242
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia OMIM:188580
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation, Ascites, Pleural effusion OMIM:617397
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Citrullinemia, Type Ii, Adult-Onset
Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Hypertriglyceridemia, Elevated plasm... OMIM:603471
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Micropenis OMIM:602361
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Microscopic nephrocalcinosis, Hypercalciuria OMIM:219721
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:614099
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid concentration, Generalized a... OMIM:231680
Familial Glucocorticoid Deficiency
Failure to thrive, Recurrent urinary tract infections, Hypernatriuria, Hyponatremia, Weight loss,... ORPHA:361
Pseudohypoparathyroidism, Type Ic
Obesity, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administr... OMIM:612462
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Pulmonary edema, Hematuria, Renal insufficiency, Decreas... ORPHA:31826
Spinocerebellar Ataxia 48
Cachexia, Urinary incontinence OMIM:618093
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Small for gestational age, Micropenis, Hypospadias OMIM:607143
Joubert Syndrome 2
Renal cyst, Renal insufficiency, Nephronophthisis OMIM:608091
Hypouricemia, Renal, 1
Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosi... OMIM:220150
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... OMIM:220110
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... ORPHA:2237
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Polyarteritis Nodosa
Abnormality of the kidney, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:767
Wild Type Attr Amyloidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Weight loss ORPHA:330001
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pulmonary edema, Decreased glomerular filtration rate, Glomerulonephritis... ORPHA:340
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures ORPHA:289157
Acute Monoblastic/Monocytic Leukemia
Oliguria, Periorbital edema ORPHA:514
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypophosphatemia, Hypocalcemia ORPHA:93160
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis OMIM:241410
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Polyphagia, Hyponatremia, Enuresis ORPHA:293987
Microscopic Polyangiitis
Glomerulopathy, Oliguria, Hematuria, Renal insufficiency ORPHA:727
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Hypocalcemia ORPHA:47
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Netherton Syndrome
Dehydration, Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Dehydration, Elevated circulating creatinine concentration, Unconjug... ORPHA:90038
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Aminoaciduria, Increased urinary O-linked sialo... ORPHA:812
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Congenital megaureter, Elevated alpha-fetoprotein, Nephroblastoma, Ureteral dupl... ORPHA:116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Weight loss, Increas... OMIM:619377
Mastocytosis
Hypercalcemia ORPHA:98292
Molybdenum Cofactor Deficiency, Complementation Group A
Increased urinary taurine, Absent urinary urothione, Xanthinuria, Decreased urinary sulfate, Incr... OMIM:252150
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia, Weight loss ORPHA:88673
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased plasma to... ORPHA:42
Diffuse Alveolar Hemorrhage
Weight loss, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Pseudohypoparathyroidism, Type Ia
Obesity, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administr... OMIM:103580
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... ORPHA:289176
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Majeed Syndrome
Failure to thrive, Cachexia, Proteinuria, Glomerulopathy, Weight loss, Microscopic hematuria ORPHA:77297
Aneurysm Of Sinus Of Valsalva
Oliguria, Edema ORPHA:1054
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:54251
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Dehydration, Increased circulating renin level, Penoscrotal hypospadias, Hyponatremi... ORPHA:90791
Vipoma
Weight loss, Hypokalemia, Hypercalcemia ORPHA:97282
Ppoma
Weight loss, Hypercalcemia ORPHA:97278
Timothy Syndrome
Hypocalcemia OMIM:601005
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Multiple glom... ORPHA:1505
Huntington Disease-Like 2
Weight loss OMIM:606438
Adrenocortical Carcinoma
Hypokalemia, Increased body weight, Weight loss, Abnormality of urine homeostasis, Increased urin... ORPHA:1501
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Sarcoidosis
Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia... ORPHA:797
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Generalized edema, Pleural empyema, Hyperkalemia, Olig... ORPHA:544482
Fructose Intolerance, Hereditary
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... OMIM:229600
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876