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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right eye

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of right fundus

14 Images

Eye Morphology

VIP of left fundus

14 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of left 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
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocal... OMIM:616963
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Renal Glucosuria
Glycosuria, Enuresis nocturna, Polyuria, Polyphagia, Polydipsia OMIM:233100
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypercalcemia, Hypercalciuria, Hypermagnesemia, Hypocalciuria OMIM:145980
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Failure to thrive OMIM:239199
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:145981
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Failure to ... OMIM:143880
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Small Cell Carcinoma Of The Bladder
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria ORPHA:284400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:2239
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Salt craving, Enuresis, Polyuria, Renal salt wast... OMIM:612780
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Polydipsia, Hypermagnesemia, Xerosto... OMIM:617671
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalce... ORPHA:405
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting OMIM:612286
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Polydipsia, Nep... OMIM:606995
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hypercalcemia, Proteinuria ORPHA:2668
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Failure to thrive OMIM:602722
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Saccharopinuria
Elevated circulating sacchoropine concentration, Saccharopinuria, Hyperlysinuria, Citrullinuria, ... OMIM:268700
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level, Polydipsia OMIM:613677
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney disease, Stage 5 ch... ORPHA:94059
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Po... ORPHA:2704
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Glucose-Galactose Malabsorption
Nephrolithiasis, Hypercalcemia, Hematuria, Failure to thrive, Renal insufficiency, Hypernatremia,... ORPHA:35710
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Enuresis, Polyuria, Nocturia, Salt cr... OMIM:263800
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Dibasic Amino Aciduria I
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria OMIM:222690
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, F... OMIM:613845
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
East Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Enuresis, Renal salt wasting, Salt cr... ORPHA:199343
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Tiglic Acidemia
Aminoaciduria OMIM:275190
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Blue urine, Hyperphosphatemia, Increased body weight ORPHA:94086
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Polyhydramn... ORPHA:223
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalciuria, Hypospadias, Hypercalcemia OMIM:614732
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polyuria, Megacystis, Polydipsia, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Polyuria, Megacystis, Polydipsia, Hypernatremia OMIM:304800
Carnosinemia
Carnosinuria OMIM:212200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Decreased circulating renin l... ORPHA:320
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Central Diabetes Insipidus
Dehydration, Polydipsia, Nocturia, Hyponatremia ORPHA:178029
Camptodactyly 1
Increased urinary taurine OMIM:114200
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Renal phosphate wasting OMIM:241519
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Hyperphosphaturia, Aminoaciduria, Calcinosis, Polydipsia... OMIM:239200
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Polydipsia, Aminoaciduria, Nephropathy, Rena... ORPHA:213
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Weight loss, Hyperuricosuria, Hypercalciuria,... ORPHA:3337
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Phenylketonuria
Aminoaciduria ORPHA:716
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Rhabdoid Tumor
Hypercalcemia, Renal neoplasm, Weight loss, Hematuria ORPHA:69077
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Senior-Loken Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Hypercalcemia, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum iron, Increased seru... OMIM:603358
Diaminopentanuria
Cystinuria, Hyperlysinuria OMIM:222350
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Ascites,... ORPHA:84081
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Hypokalemia ORPHA:251274
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal glo... ORPHA:567548
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Hypercalciuria, Increased circulatin... OMIM:601678
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Distal Renal Tubular Acidosis
Renal cyst, Nephrocalcinosis, Hypermagnesiuria, Nephrolithiasis, Hypokalemia, Hypocitraturia, Hyp... ORPHA:18
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Increased circulati... ORPHA:157215
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Homocarnosinosis
Carnosinuria OMIM:236130
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231580
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary dopamine, Hematuria, Elevated urinary epinephrine, Elevated urina... ORPHA:94080
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Polydipsia, Stage 5 chronic kidney disease OMIM:615994
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Failure to thrive, Cachexia, Weight loss OMIM:612075
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239500
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Hypercalciuria, Increased circulatin... OMIM:241200
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Cystinuria, Nephrolithiasis ORPHA:163693
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication ORPHA:147
Valinemia
Valinuria, Hypervalinemia OMIM:277100
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Cystathioninuria
Cystathioninuria, Cystathioninemia, Nephrolithiasis ORPHA:212
Hereditary Fructose Intolerance
Chronic kidney disease, Hyperuricemia, Renal insufficiency, Hypermagnesemia, Hypophosphatemia ORPHA:469
Nephronophthisis 15
Nephronophthisis OMIM:614845
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalcemia, Hyp... OMIM:241500
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hype... ORPHA:73224
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Renal salt wasting, Hyponatremia OMIM:614736
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Small for gestational age, Hypercalciuria, Hypocalcemia, Mucopolys... OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Acute kidney injury, Elevated creatine kinase after exercise, Chronic kidney disea... ORPHA:284426
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Renal phosphate wasting OMIM:612089
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypercalciuria, Hypophosphatemic rickets, Failure to thrive, Calcium n... OMIM:241530
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency, Impaired renal concentrating ability OMIM:204690
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Hyperuricemia, Rena... OMIM:603860
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Gitelman Syndrome
Renal tubular acidosis, Hypokalemia, Renal Fanconi syndrome, Decreased urinary potassium, Protein... ORPHA:358
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypophosphatemic Rickets
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Hyperphosphaturia, Renal insufficiency, Renal ph... ORPHA:437
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thrive OMIM:610600
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria OMIM:238750
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Failure to thrive OMIM:203400
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Edema, Focal se... OMIM:615573
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Proteinuria, Polyuria, Hypophosphatemic rickets, Microscopic hematuria, ... OMIM:219800
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hyponatremia, Ascites, Hypocalcemia, Polyuria, Pleural effusion, Renal dysplasia, Polyh... OMIM:618183
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated ... ORPHA:276621
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia OMIM:156400
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, In... ORPHA:99880
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Obesity, Macroscopic ... ORPHA:251004
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypokalemia, Nephrolithiasis ORPHA:369929
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, In... ORPHA:143
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Oligohydramnios, Elevated circulating creatinine concentration, Abnormal renal c... OMIM:616733
Aapoaiv Amyloidosis
Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuria,... ORPHA:439232
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Failure to thrive, Hyperphosphatemia, Hydroxypr... OMIM:239000
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating N,N-dimethylglycine conc... OMIM:605850
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis OMIM:266920
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Hyperuricemia, Mul... ORPHA:93111
Colchicine Poisoning
Oliguria, Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphat... ORPHA:31824
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Nephrolithiasis ORPHA:163690
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Rhyns Syndrome
Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss, Hypercalcemia ORPHA:97289
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Renal corticom... OMIM:613159
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... ORPHA:99845
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Failure to thrive,... ORPHA:416
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proximal tubulo... OMIM:241150
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Pulmonary Blastoma
Weight loss ORPHA:64741
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:398063
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Hypercalcemia, Elevated ... ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperamylasemia, Elevated circulating creatine kinase concentration, Aminoaciduri... OMIM:619386
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Acute Adrenal Insufficiency
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:95409
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Cachexia OMIM:175500
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Rowley-Rosenberg Syndrome
Aminoaciduria OMIM:268500
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Weight loss, Nephropathy ORPHA:100024
Tuberculosis
Weight loss ORPHA:3389
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Edema, Focal segme... OMIM:614196
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in plasma, Increased level of gal... OMIM:230400
Pheochromocytoma
Hypercalcemia, Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Hyperphosphaturia ORPHA:89937
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Cystinuria, Nephrolithiasis OMIM:606407
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Nephrocalcinosis, Renal cyst OMIM:615398
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Decreased urinary potassium,... ORPHA:79102
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal sodium wa... ORPHA:556037
Infantile Myofibromatosis
Abnormality of the kidney, Hypercalcemia ORPHA:2591
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Panhypophysitis
Polydipsia, Hyponatremia, Hyposthenuria ORPHA:95513
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Renal Tubular Dysgenesis
Anuria, Renotubular dysgenesis, Oligohydramnios, Abnormality of the urinary system OMIM:267430
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Familial Cold Urticaria
Dehydration, Polydipsia ORPHA:47045
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoph... OMIM:616026
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal sodium wasting, Dehydration ORPHA:556030
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Wolfram Syndrome
Dysuria, Recurrent urinary tract infections, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Argininosuccinic Aciduria
Oroticaciduria, Hypoargininemia, Aminoaciduria, Hyperglutaminemia, Hyperammonemia ORPHA:23
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Increased serum bile a... ORPHA:731
Erdheim-Chester Disease
Dysuria, Hydronephrosis, Pleural effusion, Renal insufficiency, Polydipsia, Joint swelling ORPHA:35687
Neuroleptic Malignant Syndrome
Hypernatremia, Hyponatremia, Acute kidney injury, Proteinuria, Hyperkalemia, Hypocalcemia, Myoglo... ORPHA:94093
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Elevated circulating creatinine concentration, Decreased circulating apolipop... ORPHA:85450
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:90362
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis OMIM:278300
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Obesity, Renal dysplasia, Abnormalit... ORPHA:369837
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria, Calcinosis, Dysphagia OMIM:617913
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Toxic Epidermal Necrolysis
Dysuria, Dysphagia, Renal insufficiency, Polydipsia, Abnormality of the urethra ORPHA:537
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Addison Disease
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:85138
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... OMIM:211900
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nephrotic syndrome, Failure to thrive in infancy, Abnormal blood ion concentration, Hypocalcemia,... ORPHA:37042
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithiasis ORPHA:36913
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Renal Fanconi syndrome, Small for gestational age, Hypercalciuria, Com... OMIM:557000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Diencephalic Syndrome
Decreased body weight, Long penis, Cachexia ORPHA:1672
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Failure to thrive, Hypercalcemia ORPHA:476126
Rabson-Mendenhall Syndrome
Hypokalemia, Increased C-peptide level, Nephrocalcinosis, Long penis, Polydipsia ORPHA:769
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria, Methylmalonic acidemia OMIM:309541
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Pleural effusion, Pedal edema, Renal insufficiency, P... ORPHA:188
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Elevated urinary... ORPHA:653
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology, Increased serum pyruvate ORPHA:79243
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Nephroblastoma
Weight loss, Nephroblastoma, Hematuria ORPHA:654
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... OMIM:617641
Adrenal Hypoplasia, Congenital
Dehydration, Renal salt wasting, Hyponatremia OMIM:300200
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic A... ORPHA:94089
Whipple Disease
Polydipsia, Pedal edema, Hyponatremia ORPHA:3452
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
D-Glyceric Aciduria
Aminoaciduria, Nonketotic hyperglycinemia OMIM:220120
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Monosomy 13Q34
Fetal pyelectasis, Obesity, Infantile hypercalcemia ORPHA:96168
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamines, Elevated urinary dopamine, Elevated urinary homovanillic acid, E... OMIM:256700
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Arima Syndrome
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Renal t... OMIM:243910
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Failure to thrive, Weight loss ORPHA:199299
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Pearson Syndrome
Glycosuria, Renal cyst, Lacticaciduria, Hypokalemia, Small for gestational age, Proteinuria, Hypo... ORPHA:699
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal tubular dysfunction, Renal phosphate wasting OMIM:307800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... OMIM:235400
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Oligohydramnios ORPHA:525731
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Decreased urine output, Acute kidney injury, Pleur... ORPHA:542323
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Hypokalemia, Nephrocalcinosis, Hyponatremia, Nephrolithiasis, H... ORPHA:534
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated ... ORPHA:159
Huntington Disease-Like 2
Weight loss ORPHA:98934
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Conjugated hyperbi... OMIM:210550
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Abnormal circulating biopterin concentration, Hypom... ORPHA:1578
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypokalemia, Decreased body weight, Increased circulating reni... ORPHA:508
Joubert Syndrome 2
Nephronophthisis, Abnormal renal physiology, Renal cyst OMIM:608091
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Xerostomia, Dysphagia, Renal insufficiency ORPHA:220393
Chronic Hiccup
Weight loss ORPHA:396
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss, Hypercalcemia ORPHA:913
Holocarboxylase Synthetase Deficiency
Organic aciduria, Weight loss, Hyperammonemia ORPHA:79242
Isaacs Syndrome
Weight loss ORPHA:84142
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Polyhydramnios, Renal dysplasia, Nephrocalcinosis OMIM:300990
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:614099
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hypertri... OMIM:603471
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypercalciuria, Microscopic nephrocalcinosis, Hypospadias OMIM:219721
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Micropenis, Hypocalcemia, Failure to thrive, Hypospadias OMIM:607143
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting, Failure to thrive, Recurrent urinary tract infect... ORPHA:361
Gracile Bone Dysplasia
Micropenis, Failure to thrive, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administr... OMIM:612462
Ethylene Glycol Poisoning
Cerebral edema, Renal tubular dysfunction, Decreased urine output, Hematuria, Hyperkalemia, Hypoc... ORPHA:31826
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231625
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hypocalcemic seizures, Hydronephrosis, Hypocalcemia, Polycystic kidney... ORPHA:2237
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Mulibrey Nanism
Cachexia ORPHA:2576
Lassa Fever
Oliguria, Dysphagia, Facial edema ORPHA:99824
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Failure to thrive, Hypophosphatemia ORPHA:289157
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Nephrolithiasis ORPHA:93160
Polyarteritis Nodosa
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Wild Type Attr Amyloidosis
Nephrotic syndrome, Proteinuria, Nephropathy, Renal insufficiency, Weight loss ORPHA:330001
Acute Monoblastic/Monocytic Leukemia
Oliguria, Periorbital edema ORPHA:514
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria, Methyl... OMIM:612073
Pseudo-Torch Syndrome 2
Ascites, Pleural effusion, Abnormal renal corticomedullary differentiation OMIM:617397
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Polydipsia, Enuresis, Polyphagia ORPHA:293987
Microscopic Polyangiitis
Oliguria, Glomerulopathy, Hematuria, Renal insufficiency ORPHA:727
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hema... ORPHA:340
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Netherton Syndrome
Dehydration, Hydronephrosis, Ectopic kidney, Aminoaciduria ORPHA:634
Beckwith-Wiedemann Syndrome
Large for gestational age, Elevated alpha-fetoprotein, Enlarged kidney, Multiple renal cysts, Nep... ORPHA:116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administr... OMIM:103580
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... OMIM:252150
Mastocytosis
Hypercalcemia ORPHA:98292
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria... OMIM:619377
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia, Weight loss ORPHA:88673
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Diffuse Alveolar Hemorrhage
Weight loss, Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated urinary 3-hydroxybutyric acid, Elevated circulating cr... ORPHA:42
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatem... ORPHA:289176
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Short Rib-Polydactyly Syndrome
Multiple glomerular cysts, Abnormality of the kidney, Polycystic kidney dysplasia, Polyhydramnios... ORPHA:1505
Aneurysm Of Sinus Of Valsalva
Oliguria, Edema ORPHA:1054
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Penoscrotal hy... ORPHA:90791
Vipoma
Hypokalemia, Weight loss, Hypercalcemia ORPHA:97282
Ppoma
Weight loss, Hypercalcemia ORPHA:97278
Majeed Syndrome
Proteinuria, Failure to thrive, Glomerulopathy, Microscopic hematuria, Cachexia, Weight loss ORPHA:77297
Adrenocortical Carcinoma
Hypokalemia, Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body w... ORPHA:1501
Fructose Intolerance, Hereditary
Glycosuria, Bicarbonaturia, Hyperuricosuria, Proximal tubulopathy, Hyperphosphaturia, Hyperuricem... OMIM:229600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Weig... ORPHA:171876
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Hyponatremia, Decreased urine output, Acute kidney injury, Anuria, Hyperkalemia, Hypoca... ORPHA:544482
Huntington Disease-Like 2
Weight loss OMIM:606438
Timothy Syndrome
Hypocalcemia OMIM:601005
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Weight loss, Nephrolithiasis, Hypercalcemia ORPHA:652
Zttk Syndrome
Unilateral renal agenesis, Polyuria, Horseshoe kidney OMIM:617140
Williams-Beuren Syndrome
Nephrocalcinosis, Bladder diverticulum, Hypercalcemia, Failure to thrive in infancy, Hypercalciur... OMIM:194050
Multiple Endocrine Neoplasia Type 4
Renal angiomyolipoma, Increased urinary cortisol level, Hypercalcemia ORPHA:276152
Opsismodysplasia
Edema, Polyhydramnios, Hypophosphatemia, Renal phosphate wasting OMIM:258480
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Horseshoe kidney, Hyperphosphaturia OMIM:163200
Moynahan Syndrome
Cachexia ORPHA:2574
Sarcoidosis
Nephrocalcinosis, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Tubulointerstitial nephritis, R... ORPHA:797
Williams Syndrome
Failure to thrive in infancy, Proteinuria, Recurrent urinary tract infections, Nephrocalcinosis, ... ORPHA:904
Somatostatinoma