Gene Summary

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of left eye

14 Images

Eye Morphology

VIP of right eye

14 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, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... OMIM:616963
Idiopathic Hypercalciuria
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... ORPHA:2197
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... OMIM:143880
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia OMIM:233100
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria OMIM:145980
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis, Polydipsia OMIM:606996
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Failure to thrive, Hypercalcemia, Nephrocalcinosis, Hypercalciuria OMIM:239199
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... OMIM:145981
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia OMIM:154020
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Bartter Syndrome, Type 3
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... OMIM:607364
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hypercalciuria ORPHA:2239
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Type 1 Diabetes Mellitus
Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia OMIM:222100
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... OMIM:601198
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Helix Syndrome
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolit... OMIM:617671
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... OMIM:300555
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Polyuri... OMIM:612780
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... OMIM:600740
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria OMIM:612286
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi... OMIM:606995
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho... ORPHA:405
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Hypercalciuria OMIM:602722
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... ORPHA:99879
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Bartter Syndrome, Type 5, Antenatal, Transient
Polyhydramnios, Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypoc... OMIM:300971
Hypomagnesemia 3, Renal
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... OMIM:248250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Polyhydramnios, Hydrops fetalis, Hypokalemia, Renal salt wa... OMIM:602522
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Polyuria, Polydipsia, Hypercalciuria OMIM:613677
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Threoninemia
Hyperthreoninemia, Hyperthreoninuria OMIM:273770
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Polyhydramnios, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urin... OMIM:613090
Uremic Pruritus
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... ORPHA:94059
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Glucose-Galactose Malabsorption
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... ORPHA:35710
Gitelman Syndrome
Hypokalemia, Nocturia, Increased circulating renin level, Polyuria, Hypocalciuria, Salt craving, ... OMIM:263800
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... OMIM:613550
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... OMIM:248190
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Saccharopinuria
Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine concentration, Saccharopinuria, C... OMIM:268700
East Syndrome
Renal sodium wasting, Hypokalemia, Renal salt wasting, Abnormal urinary electrolyte concentration... ORPHA:199343
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci... OMIM:613388
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Blue Diaper Syndrome
Hyperphosphatemia, Blue urine, Hypercalcemia, Nephrocalcinosis, Increased body weight ORPHA:94086
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Nephrocalcinosis, Renal ins... ORPHA:320
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Joubert Syndrome 4
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... OMIM:609583
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hyposthenuria, Enuresis nocturna, Hypernatremic dehydration, Hydroureter, Renal i... ORPHA:223
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polyuria, Megacystis, Hypernatremia, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Polyuria, Megacystis, Hypernatremia, Polydipsia OMIM:304800
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Polyuria, Hy... OMIM:613845
Carnosinemia
Carnosinuria OMIM:212200
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Central Diabetes Insipidus
Dehydration, Nocturia, Polydipsia, Hyponatremia ORPHA:178029
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Attention deficit hyperactivity disorder OMIM:204750
Camptodactyly 1
Increased urinary taurine OMIM:114200
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... OMIM:619113
Enamel-Renal Syndrome
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... ORPHA:1031
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Polydipsia, Hypercalcem... OMIM:239200
Adamantinoma
Hypercalcemia ORPHA:55881
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Cystinosis
Aminoaciduria, Hypophosphatemia, Hypokalemia, Nephropathy, Polydipsia, Proteinuria, Dehydration, ... ORPHA:213
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administration, Hypocalcemia OMIM:603233
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... ORPHA:3337
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria OMIM:614732
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Phenylketonuria
Aminoaciduria ORPHA:716
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypercalcemia, Weight loss ORPHA:69077
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... ORPHA:411634
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239500
Senior-Boichis Syndrome
Increased total bilirubin, Abnormal renal insterstitial morphology, Stage 5 chronic kidney diseas... ORPHA:84081
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease ORPHA:3156
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... OMIM:300009
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... OMIM:615862
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hyperlysinemia, Type I
Hyperlysinemia, Hyperlysinuria, Hyperactivity OMIM:238700
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Gracile Syndrome
Aminoaciduria, Increased serum pyruvate, Increased circulating ferritin concentration, Increased ... OMIM:603358
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... ORPHA:567548
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyposthenuria, Small for gestational age, Hyperprostaglandinuri... OMIM:601678
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphaturia, Hypophosphate... ORPHA:157215
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Hypokal... ORPHA:18
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Homocarnosinosis
Carnosinuria OMIM:236130
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Non-Functioning Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Hypercalcemia, E... ORPHA:94080
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Polydipsia ORPHA:231580
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Proximal tubulopathy, Hypophosphatemia, Hypophosphatemic rickets, Low-mo... OMIM:300554
Bardet-Biedl Syndrome 9
Renal insufficiency, Polyphagia, Polydipsia OMIM:615986
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... ORPHA:411629
Bartter Syndrome Type 4
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka... ORPHA:89938
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Hydroxykynureninuria
Aminoaciduria OMIM:236800
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Nephronophthisis 15
Nephronophthisis OMIM:614845
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis, Polydipsia OMIM:615994
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Polyhydramnios, Hyposthenuria, Hyperprostaglandinuria, Hypokale... OMIM:241200
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypercalci... OMIM:241530
Valinemia
Valinuria, Hypervalinemia OMIM:277100
Hartnup Disorder
Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... ORPHA:2088
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Nephronophthisis 19
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth... OMIM:616217
Hereditary Fructose Intolerance
Hyperuricemia, Hypophosphatemia, Hypermagnesemia, Renal insufficiency, Chronic kidney disease ORPHA:469
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypocalcemic tetany, Hypermagnesiuria, Nephrocalcinosis, Hypoc... ORPHA:73224
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Phosphoethanolaminuria, Elevated urine pyrophosphate, Failure to t... OMIM:241500
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Oculoskeletodental Syndrome
Small for gestational age, Renal agenesis, Mucopolysacchariduria, Hypercalcemia, Hypocalcemia, Hy... OMIM:618440
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency OMIM:204690
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Galactosuria OMIM:230350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalciuria, Hypercalcemia, Nephr... ORPHA:437
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia OMIM:171420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Edema, Prot... OMIM:614131
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Gitelman Syndrome
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Hypokalemia, Hypocalc... ORPHA:358
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... OMIM:603860
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Hyponatremia OMIM:610600
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria OMIM:238750
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... OMIM:219800
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... OMIM:243910
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Hyponatremia OMIM:203400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... OMIM:300539
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:94090
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Impulsivity, Restlessness, Hyperglycinuria OMIM:605899
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... OMIM:134600
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
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypercalciuria OMIM:156400
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... ORPHA:276621
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... ORPHA:99880
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Muscular Dystrophy, Cardiac Type
Carnosinuria, Elevated circulating creatine kinase concentration OMIM:309930
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... ORPHA:93111
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... ORPHA:439232
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Parathyroid Carcinoma
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... ORPHA:143
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... OMIM:605850
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hyperkalemia,... ORPHA:97362
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... ORPHA:251004
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Failure to thrive, Increased urine deoxypyri... OMIM:239000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis, Polydipsia ORPHA:369929
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine... OMIM:616733
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Nephrocalcinosis, Hypocalcemia, Hypomagnesemia, Hypercalciuria, Hypermagnesiuria ORPHA:428
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... ORPHA:3124
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Polyphagia ORPHA:163690
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Renal dysplasia, Pericardial effusion, Pleural effusion, Polyuria, Hyponatremia, ... OMIM:618183
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Hyponatr... ORPHA:31824
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Calcium nephrolithiasis ORPHA:97289
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... OMIM:613159
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Primary Hyperoxaluria
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... ORPHA:416
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... ORPHA:99845
Xanthinuria, Type Ii
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... OMIM:603592
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... OMIM:618913
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Pulmonary Blastoma
Weight loss ORPHA:64741
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Refractory Celiac Disease
Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Stage 3 chronic kidney disease, Hypophosphatemia, Medullary nephrocalcinosi... OMIM:619743
Multiple Myeloma
Weight loss, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Nephropathy, Hy... ORPHA:29073
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Elevated urinary N-acetylaspartic acid level, ... OMIM:618384
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,... ORPHA:29072
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... OMIM:616307
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal... OMIM:241150
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... OMIM:619902
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypocalcemia, Hypercalcemia ORPHA:557003
Acute Adrenal Insufficiency
Hyperuricemia, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating renin level, ... ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Pheochromocytoma
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis OMIM:171300
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Weight loss, Cachexia, Failure to thrive OMIM:612075
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Hypophosphaturia, Hypocalciuria, Attention deficit hyperactivity disorder ORPHA:73223
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Edema, Pro... OMIM:614196
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Edema, Diffuse mesangial sclerosis, Proteinur... OMIM:610725
Tuberculosis
Weight loss ORPHA:3389
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:614736
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hyperphosphaturia, Hypocalcemia ORPHA:89937
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Cystinuria, Failure to thrive, Hypocalcemia, Nephrolithiasis OMIM:606407
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Panhypophysitis
Hyposthenuria, Polydipsia, Hyponatremia ORPHA:95513
Infantile Myofibromatosis
Abnormality of the kidney, Hypercalcemia ORPHA:2591
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Nocturia OMIM:223360
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Oligohydramnios, Reduced renal cort... OMIM:208085
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Large for gestational age, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercal... OMIM:615398
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Weight loss, Hyperkalemia, M... ORPHA:79102
Renal Tubular Dysgenesis
Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Oligohydramnios OMIM:267430
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... ORPHA:556037
Familial Cold Urticaria
Polydipsia, Dehydration ORPHA:47045
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Galactosemia I
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... OMIM:230400
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Nephrocalcinosis, Proteinuria, Hy... OMIM:616026
Fanconi-Bickel Syndrome
Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Failure ... OMIM:227810
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Erdheim-Chester Disease
Dysuria, Pleural effusion, Joint swelling, Renal insufficiency, Polydipsia, Hydronephrosis ORPHA:35687
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormality of the urinary system, Poly... ORPHA:3463
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Dehydration, Hyponatremia ORPHA:556030
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hypoargininemia, Hyperglutaminemia ORPHA:23
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia, Cachexia ORPHA:1438
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... ORPHA:731
Primary Intestinal Lymphangiectasia
Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... ORPHA:427
Wilson Disease
Aminoaciduria, Pedal edema, Glycosuria, Hyperphosphaturia, Decreased circulating ceruloplasmin co... OMIM:277900
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... ORPHA:85450
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Alaninuria, Lacticaciduria, Hyperprolinemia, Hyperglutaminuria, Hyperg... OMIM:616299
Neuroleptic Malignant Syndrome
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Hypoc... ORPHA:94093
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... ORPHA:411536
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hy... OMIM:612462
Coach Syndrome 1
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... OMIM:216360
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Renal dysplasia, Obesity, Renal cyst, Hypercalcemia, Abnormality of the ur... ORPHA:369837
Toxic Epidermal Necrolysis
Dysuria, Dysphagia, Renal insufficiency, Abnormality of the urethra, Polydipsia ORPHA:537
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Addison Disease
Hyperuricemia, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating renin level, ... ORPHA:85138
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Failure to thrive in infancy, Decreased prealbumin level, Nephrotic... ORPHA:37042
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria, Co... OMIM:613404
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Calcium nephrolithiasis, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hyperbilirubinemia, Failure to thrive, Complex organic aciduria, 3-Met... OMIM:557000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology, Increased serum pyruvate ORPHA:79243
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria, Methylmalonic acidemia, Elevated circulating creatine kina... OMIM:612073
Monosomy 13Q34
Obesity, Hypercalcemia, Fetal pyelectasis ORPHA:96168
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis, Decreased renal tubular phosphate excretion, Nephrocalcinosis, Inc... OMIM:211900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Systemic Capillary Leak Syndrome
Pedal edema, Pulmonary edema, Abnormal renal tubule morphology, Pleural effusion, Oliguria, Renal... ORPHA:188
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia, Long penis, Nephrocalcinosis, Polydipsia ORPHA:769
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Failure to thrive, Hypercalcemia ORPHA:476126
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Elevated urinary epineph... ORPHA:653
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia ORPHA:199299
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Adrenal Hypoplasia, Congenital
Dehydration, Renal salt wasting, Hyponatremia OMIM:300200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration ORPHA:1933
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Nephroblastoma
Nephroblastoma, Hematuria, Weight loss ORPHA:654
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Hypokalemia, Abnorma... ORPHA:173
Pediatric-Onset Graves Disease
Hyperactivity, Polyphagia, Polydipsia, Oligohydramnios ORPHA:525731
Whipple Disease
Pedal edema, Polydipsia, Hyponatremia ORPHA:3452
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Polyhydramnios OMIM:219730
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Weight loss, Abnormality... OMIM:256700
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia ORPHA:352540
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... OMIM:610188
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Obesity, Hypocalcemia ORPHA:79445
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Pleural effusio... ORPHA:542323
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Pearson Syndrome
Hyperalaninemia, Glycosuria, Small for gestational age, Hypophosphatemia, Hypokalemia, Hypocalcem... ORPHA:699
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hypophosph... ORPHA:534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... OMIM:235400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Polyhydramnios OMIM:618541
Duplication Of Urethra
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... ORPHA:237
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosph... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia OMIM:264700
Diffuse Cutaneous Systemic Sclerosis
Xerostomia, Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Ethylene Glycol Poisoning
Cerebral edema, Pulmonary edema, Decreased urine output, Renal tubular epithelial necrosis, Hemat... ORPHA:31826
Leprechaunism
Decreased body weight, Enlarged kidney, Hypokalemia, Increased circulating renin level, Long peni... ORPHA:508
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Dicarboxylic acidur... ORPHA:159
Lassa Fever
Facial edema, Oliguria, Dysphagia ORPHA:99824
Chronic Hiccup
Weight loss ORPHA:396
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... ORPHA:103910
Isaacs Syndrome
Weight loss ORPHA:84142
Zollinger-Ellison Syndrome
Weight loss, Hypercalcemia, Increased urinary cortisol level ORPHA:913
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Weight loss ORPHA:79242
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Acute tubulointerstitial nephritis, Pulm... ORPHA:340
Pseudo-Torch Syndrome 2
Pleural effusion, Abnormal renal corticomedullary differentiation, Ascites OMIM:617397
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Cerebral edema, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia... OMIM:603471
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Micropenis OMIM:602361
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Decreased circulating renin level, Hypokalemia ORPHA:231625
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Familial Glucocorticoid Deficiency
Weight loss, Recurrent urinary tract infections, Hyperkalemia, Hypernatriuria, Renal salt wasting... ORPHA:361
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperactivity, Hyperechogenic kidneys OMIM:620047
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypospadias, Hypocalcemia, Micropenis OMIM:607143
Mulibrey Nanism
Cachexia ORPHA:2576
Wild Type Attr Amyloidosis
Weight loss, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Polyarteritis Nodosa
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Acute Monoblastic/Monocytic Leukemia
Oliguria, Periorbital edema ORPHA:514
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Hyponatremia, Calcinosis, Hypokalemia, Renal artery stenosis, Dysphagia, Renal hyp... OMIM:617913
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... OMIM:231680
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... ORPHA:2237
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:614099
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:94089
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Hematuria, Oliguria ORPHA:727
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Polyphagia, Hyperlipidemia, Hyponatremia, Enuresis, Polydipsia ORPHA:293987
Hepatocellular Carcinoma
Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... ORPHA:90038
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Large for gestatio... ORPHA:116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Cachexia, Proteinuria ORPHA:2774
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Dehydration, Hydronephrosis ORPHA:634
Mastocytosis
Hypercalcemia ORPHA:98292
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia, Hypocalcemia OMIM:600081
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Failure to thrive, Increased serum bile... OMIM:619377
Aneurysm Of Sinus Of Valsalva
Edema, Oliguria ORPHA:1054
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Weight loss ORPHA:90060
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... ORPHA:49041
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hypospadias, Penoscrotal hyp... ORPHA:90791
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Cachexia, Dicarboxylic aciduria, Elevated circulating cre... ORPHA:42
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micropenis, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphospha... OMIM:103580
Majeed Syndrome
Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria ORPHA:77297
Multiple Endocrine Neoplasia Type 1
Weight loss, Nephrolithiasis, Hypercalcemia, Hypercalciuria ORPHA:652
Ppoma
Hypercalcemia, Weight loss ORPHA:97278
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ... ORPHA:171876
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Polyhydramnios, Abnormality of the kidney, Polycystic kidney dysplasia,... ORPHA:1505
Williams-Beuren Syndrome
Failure to thrive in infancy, Vesicoureteral reflux, Recurrent urinary tract infections, Nephroca... OMIM:194050
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hypocalcemic tetany, Abnormality of renal excretion, Hyperphosphaturia, ... ORPHA:289176
Sarcoidosis
Tubulointerstitial nephritis, Weight loss, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, ... ORPHA:797
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Timothy Syndrome
Hypocalcemia OMIM:601005
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Adrenocortical Carcinoma
Weight loss, Hypokalemia, Abnormality of urine homeostasis, Increased urinary cortisol level, Inc... ORPHA:1501
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Vipoma