Gene Summary

Name:
aldo-keto reductase family 1 member B
Synonyms:
ALR2,  Aldor1,  AR,  Aldr1,  Ahr-1,  Ahr1,  Akr1b3

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left eye

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left fundus

14 Images

Eye Morphology

VIP of right eye

14 Images

Human diseases caused by Akr1b1 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia OMIM:239199
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating c... OMIM:619468
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, ... OMIM:256100
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Nephronophthisis 4
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage... OMIM:606966
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia OMIM:222100
Renal Hypoplasia
Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Helix Syndrome
Polydipsia, Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insuffi... OMIM:617671
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Polydipsia, Hypokalemia, Hypocalciuria, Renal potassium wasting, En... OMIM:612780
Hypomagnesemia 6, Renal
Hypomagnesemia, Impaired renal tubular reabsorption of magnesium OMIM:613882
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:600740
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia OMIM:612286
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters... OMIM:614817
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal ca... ORPHA:405
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor... ORPHA:2843
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating... OMIM:266900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Dibasic Amino Aciduria I
Hyperlysinuria, Ornithinuria, Argininuria, Dibasicaminoaciduria OMIM:222690
Lysine Malabsorption Syndrome
Hyperlysinuria, Renal tubular lysine transport defect OMIM:247950
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polydipsia, Hydrops fetalis, Polyhydramnios, Decreased glomerular f... OMIM:602522
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Polyhydramnios, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia,... OMIM:300971
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level OMIM:613677
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... ORPHA:2704
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polyhydramnios, Decreased glomerular filtration rate, Hyperchloridu... OMIM:613090
Threoninemia
Hyperthreoninemia, Hyperthreoninuria OMIM:273770
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Pleural effusion, Focal segmental glomerulosclerosis, Ascites, Hyperechogenic kid... OMIM:603278
Central Diabetes Insipidus
Polydipsia, Anorexia, Dehydration, Hyponatremia, Nocturia ORPHA:178029
Gitelman Syndrome
Polydipsia, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increased ci... OMIM:263800
Saccharopinuria
Elevated circulating saccharopine concentration, Histidinuria, Elevated urinary saccharopine leve... OMIM:268700
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613550
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Polyhydramnios, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional a... ORPHA:223
East Syndrome
Renal salt wasting, Polydipsia, Hypokalemia, Enuresis, Increased circulating renin level, Hypomag... ORPHA:199343
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i... ORPHA:35710
Blue Diaper Syndrome
Blue urine, Increased body weight, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder, Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Hypertonic dehydration, Hypernatremia, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Hypertonic dehydration, Hypernatremia, Megacystis OMIM:304800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure... OMIM:613845
Carnosinemia
Carnosinuria OMIM:212200
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Hyperprolinemia,... OMIM:239500
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Apparent Mineralocorticoid Excess
Polydipsia, Hypokalemia, Decreased circulating renin level, Nephrocalcinosis, Abnormal urine sodi... ORPHA:320
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased... ORPHA:2260
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Camptodactyly 1
Increased urinary taurine OMIM:114200
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... OMIM:619113
Cystinosis
Polydipsia, Hypokalemia, Nephropathy, Dehydration, Proteinuria, Hypophosphatemia, Motor stereotyp... ORPHA:213
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Adamantinoma
Hypercalcemia ORPHA:55881
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Failure to thrive, Hypercalcemia, Hypoph... OMIM:239200
Senior-Boichis Syndrome
Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Aggressive behavior, A... ORPHA:84081
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease ORPHA:3156
Juvenile Nephropathic Cystinosis
Polydipsia, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration... ORPHA:411634
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Rhabdoid Tumor
Hypercalcemia, Renal neoplasm, Hematuria, Weight loss ORPHA:69077
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Hypokalemia ORPHA:251274
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc... ORPHA:157215
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka... ORPHA:89938
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis, Hypercalcemia, Hyperphosphatemia OMIM:617994
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Polyphagia OMIM:615986
Homocarnosinosis
Carnosinuria OMIM:236130
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231580
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Hydroxykynureninuria
Elevated urinary xanthurenic acid level, Elevated urinary 3-hydroxykynurenine level OMIM:236800
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Elevated urinary indoleacetic acid level... OMIM:234500
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy... OMIM:227810
5-Oxoprolinase Deficiency
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis OMIM:260005
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Dehydration, Glycosuria, Hyperphosphat... ORPHA:411629
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hypoka... ORPHA:47159
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Nephronophthisis 15
Nephronophthisis OMIM:614845
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163693
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Hyperhomocystinemia, Homocystinuria OMIM:236250
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polydipsia, Polyhydramnios, Hyperchloriduria, Hyperprostaglandinuri... OMIM:241200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Failure to thrive, Calcium nep... OMIM:241530
Glutamate Formiminotransferase Deficiency
Positive ferric chloride test, Elevated urinary formiminoglutamic acid level, Aminoaciduria OMIM:229100
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Hyperpho... ORPHA:2088
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic kidney disease, Renal insufficiency ORPHA:469
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Cystathioninuria
Cystathioninuria, Nephrolithiasis, Cystathioninemia ORPHA:212
Oculoskeletodental Syndrome
Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Hypercalcemia, Small for ges... OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Valinemia
Hypervalinemia, Valinuria OMIM:277100
Hypophosphatasia, Infantile
Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Failure to thrive, N... OMIM:241500
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinemia OMIM:238750
Alpha-Methylacetoacetic Aciduria
Dehydration, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting OMIM:612089
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612925
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu... OMIM:174000
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Glycine Encephalopathy 1
Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting OMIM:612287
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Gitelman Syndrome
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Renal potassium wasti... ORPHA:358
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive OMIM:610600
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive OMIM:203400
Arima Syndrome
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney... OMIM:243910
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Cystinosis, Nephropathic
Polydipsia, Generalized aminoaciduria, Hypophosphatemia, Dysphagia, Stage 5 chronic kidney diseas... OMIM:219800
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype... OMIM:211900
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy, Dehydration OMIM:560000
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis OMIM:146200
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia OMIM:156400
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Autosomal Dominant Hypocalcemia
Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyper... ORPHA:99880
Phenylketonuria
Increased level of hippuric acid in urine, Hyperactivity, Hyperphenylalaninemia, Elevated urinary... OMIM:261600
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis OMIM:616629
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Obesity, Hypercalcemia, Macroscopic hematuria, Pr... ORPHA:251004
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis, Hypokalemia ORPHA:369929
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia,... ORPHA:93111
Idiopathic Achalasia
Decreased circulating prealbumin concentration, Weight loss ORPHA:930
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentration, H... OMIM:619386
Parathyroid Carcinoma
Polydipsia, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyper... ORPHA:143
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... OMIM:605850
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Failur... OMIM:239000
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal... ORPHA:3124
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Weight loss ORPHA:97289
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Oligohydramnios, Abnormal renal c... OMIM:616733
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Anasarca, Polyhydramnios, Hypocalcemia, Pleural effusion, Ascites... OMIM:618183
Colchicine Poisoning
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoph... ORPHA:31824
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Failure to t... ORPHA:416
Methionine Malabsorption Syndrome
Positive ferric chloride test, Aminoaciduria OMIM:250900
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyponatremia, Hyperkalemia, Dehydration OMIM:264350
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormal temper tantrums, Hypocalciuria, Hypophosphaturia, Impulsivity, Attention deficit hyperac... ORPHA:73223
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Pulmonary Blastoma
Weight loss ORPHA:64741
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Hyperlysinemia, Ornithinuria, Hypoornithinemia, Hyperlysinuria, Homoc... OMIM:238700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,... OMIM:619743
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Multiple Myeloma
Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Weight loss, ... ORPHA:29073
X-Linked Hypophosphatemia
Hypophosphatemia, Renal phosphate wasting, Hypocalciuria ORPHA:89936
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoalbuminemia ORPHA:398063
Spinal Cord Injury
Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction ORPHA:90058
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Oculoskeletodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Senior-Loken Syndrome 8
Stage 5 chronic kidney disease, Global glomerulosclerosis, Nephronophthisis, Glomerular subepithe... OMIM:616307
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Cachexia, Hypomagnesemia, Hypokalemia OMIM:175500
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,... ORPHA:95409
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria OMIM:612075
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Pheochromocytoma
Elevated urinary norepinephrine level, Hypercalcemia, Renal artery stenosis, Proteinuria OMIM:171300
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine succinate level, Elevated urine N-acetylaspartic acid level, Increased urine alph... OMIM:618384
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Weight loss, Nephropathy ORPHA:100024
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Edema, Hypoalbuminemia, Diff... OMIM:610725
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria ORPHA:664
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Failure to thrive OMIM:614736
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Elevated circulating gamma-aminobutyric ac... OMIM:271980
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis, Motor stereotypy OMIM:610688
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Obes... ORPHA:79102
Panhypophysitis
Hyposthenuria, Hyponatremia, Polydipsia ORPHA:95513
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Rhyns Syndrome
Nephronophthisis, Renal insufficiency, Chronic kidney disease OMIM:602152
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive, Renal sodium wa... ORPHA:556037
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Nephrolithiasis, Failure to thrive, Cystine crystalluria, Cystinuria OMIM:606407
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hyperphosphaturia, Hypophosphatemia ORPHA:89937
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Papillorenal Syndrome
Stage 5 chronic kidney disease, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinu... OMIM:120330
Infantile Myofibromatosis
Abnormality of the kidney, Hypercalcemia ORPHA:2591
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Uric aci... ORPHA:411536
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalc... OMIM:615398
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration, Hypokal... OMIM:611489
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Elevated circulating dihydroxyphenylacet... OMIM:223360
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system, Oligohydramnios OMIM:267430
Familial Cold Urticaria
Polydipsia, Dehydration ORPHA:47045
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypophosphatemia, Ami... OMIM:616026
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria OMIM:602080
Erdheim-Chester Disease
Polydipsia, Dysuria, Pleural effusion, Hydronephrosis, Joint swelling, Renal insufficiency ORPHA:35687
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Dehydration, Increased circulating renin level, Hyponatremia, Renal sodium wasting ORPHA:556030
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Dehydration, Oligohydramnios, Nephrocalcinosis, Renal tubular atrophy, Co... OMIM:208085
Argininosuccinic Aciduria
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Aminoaciduria, Hypoargininemia ORPHA:23
Wolfram Syndrome
Polydipsia, Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormality of the urinary ... ORPHA:3463
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Galactosemia I
Increased level of galactitol in red blood cells, Galactosuria, Increased level of galactitol in ... OMIM:230400
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminuria, Hyperglutaminemia, Alaninuria, Lac... OMIM:616299
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thr... ORPHA:427
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Weight loss, Hypoalbuminemia ORPHA:90362
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycy... ORPHA:731
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula... ORPHA:85450
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Dehydration, Renal cys... OMIM:263200
Toxic Epidermal Necrolysis
Polydipsia, Dysuria, Dysphagia, Renal insufficiency, Abnormality of the urethra ORPHA:537
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Obesity, Hypocalcemic tetany... OMIM:612462
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Glutathionuria
Glutathionuria, Urinary incontinence OMIM:231950
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Aminoaciduria, Renal hypoplasia, Lacticaciduria OMIM:604273
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosi... ORPHA:369837
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Cachexia, Decreased circulating prealbumin concentration, Nephrotic syndrome, Failu... ORPHA:37042
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Laryngeal Neuroendocrine Tumor
Elevated circulating carcinoembryonic antigen concentration, Weight loss ORPHA:100083
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Addison Disease
Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,... ORPHA:85138
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia ORPHA:36913
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pulmonary edema, Pleural effusion, Oliguria, Renal insufficienc... ORPHA:188
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Monosomy 13Q34
Hypercalcemia, Obesity, Fetal pyelectasis ORPHA:96168
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Abnormal medullary pyramid morphology ORPHA:79243
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Conjugated hyperbilirubinemia,... OMIM:613404
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, Hyperbilirubinemia, Failure to thrive, 3-Methylglutari... OMIM:557000
Histidinemia
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Tubular luminal dilatation, Hyperechogenic kidneys, Renal insufficiency, Renal co... OMIM:219730
Tyrosinemia, Type Ii
Elevated urine N-acetyltyrosine level, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Wilson Disease
Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc... OMIM:277900
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Urinary incontinence, Hypercalcemia ORPHA:476126
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Hereditary Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter ORPHA:30
Whipple Disease
Polydipsia, Hyponatremia, Pedal edema, Anorexia ORPHA:3452
Rabson-Mendenhall Syndrome
Polydipsia, Hypokalemia, Long penis, Increased C-peptide level, Nephrocalcinosis ORPHA:769
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia, Dehydration OMIM:300200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Methylmalonic aciduria, Aminoaciduria ORPHA:1933
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... ORPHA:653
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Nephroblastoma
Nephroblastoma, Hematuria, Weight loss ORPHA:654
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Hypoc... ORPHA:94089
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyponatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:199299
Cholera
Acute kidney injury, Hypokalemia, Hypocalcemia, Dehydration, Hyponatremia, Abnormality of renal e... ORPHA:173
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa... ORPHA:247353
Pediatric-Onset Graves Disease
Polydipsia, Oligohydramnios, Polyphagia, Hyperactivity ORPHA:525731
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho... OMIM:256700
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercholesterolemia, Hypokalemia, H... ORPHA:534
Oncogenic Osteomalacia
Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting ORPHA:352540
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia, Periorbital edema ORPHA:514
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria ORPHA:414
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia, Proteinuria, ... ORPHA:699
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Pulmonary edema, Hyperbilirubinemia, Pleural effusion, Elevated circulating ... ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Polyhydramnios OMIM:618541
Histidinemia
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria OMIM:235800
Familial Glucocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Anorexia, Recurrent urinary tract infections, Hyponatremia, Hyp... ORPHA:361
Chronic Hiccup
Weight loss ORPHA:396
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Failure to thrive, Hypophosphatemia OMIM:264700
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dysphagia, Xerostomia ORPHA:220393
Lassa Fever
Oliguria, Facial edema, Dysphagia ORPHA:99824
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Leprechaunism
Enlarged kidney, Hypokalemia, Long penis, Hypercalciuria, Decreased body weight, Increased circul... ORPHA:508
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af... ORPHA:159
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Pseudo-Torch Syndrome 2
Pleural effusion, Ascites, Abnormal renal corticomedullary differentiation OMIM:617397
Isaacs Syndrome
Weight loss ORPHA:84142
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Spinocerebellar Ataxia 48
Cachexia, Urinary incontinence OMIM:618093
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... ORPHA:103910
Ethylene Glycol Poisoning
Hyperkalemia, Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Decreased urine outp... ORPHA:31826
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia OMIM:188580
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Organic aciduria, Weight loss ORPHA:79242
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hyperlipidemia, Compulsive behaviors, Enuresis, Polyphagia, Hyponatremia, Self-injuri... ORPHA:293987
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hy... OMIM:603471
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive, Micropenis OMIM:602361
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Agitation, Pulmonary edema, Hematuria, Decreased glomerular fi... ORPHA:340
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia, Weight loss ORPHA:913
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231625
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Polyhydramnios, Nephrocalcinosis, Renal dysplasia OMIM:300990
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss ORPHA:90060
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Abnormal circulating calcium concentration, Hy... OMIM:307800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Mulibrey Nanism
Cachexia ORPHA:2576
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep... OMIM:617913
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity OMIM:620047
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Polyarteritis Nodosa
Abnormality of the kidney, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:767
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia OMIM:613239
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Nephrolithiasis ORPHA:93160
X-Linked Agammaglobulinemia
Hypocalcemia, Failure to thrive, Weight loss ORPHA:47
Microscopic Polyangiitis
Oliguria, Glomerulopathy, Hematuria, Renal insufficiency ORPHA:727
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia, Failure to thrive, Proteinuria, Weight loss... OMIM:619377
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Dehydration, Unconjugated hyperbilirubinemia, Hyponatre... ORPHA:90038
Beckwith-Wiedemann Syndrome
Large for gestational age, Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercal... ORPHA:116
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Aneurysm Of Sinus Of Valsalva
Oliguria, Edema ORPHA:1054
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Cachexia, Elevated circulating creatine kinase concentration, Hyperammonem... ORPHA:42
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Failure to thrive, Hypophosphatemia OMIM:600081
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Aminoaciduria, Increased urinary O-linked sialo... ORPHA:812
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Dehydration, Increased ci... ORPHA:90791
Adrenocortical Carcinoma
Hypokalemia, Increased body weight, Abnormality of urine homeostasis, Weight loss, Increased urin... ORPHA:1501
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria OMIM:614520
Majeed Syndrome
Glomerulopathy, Cachexia, Microscopic hematuria, Failure to thrive, Proteinuria, Weight loss ORPHA:77297
Cystic Fibrosis
Hypercalciuria, Dehydration OMIM:219700
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating C-reactiv... ORPHA:49041
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876
Argininemia
Anorexia, Oroticaciduria, Hyperactivity, Hyperargininemia, Hyperammonemia, Diaminoaciduria OMIM:207800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity, Hypocalcemic t... OMIM:103580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis OMIM:241410
Sarcoidosis
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypercalcemia, Weight loss, Renal insufficienc... ORPHA:797
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excret... ORPHA:289176
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Hypercalcemia, Nephrolithiasis, Weight loss ORPHA:652
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Wild Type Attr Amyloidosis
Renal insufficiency, Nephrotic syndrome, Proteinuria, Weight loss, Nephropathy ORPHA:330001
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c... ORPHA:904
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Failure to thrive, Hypophosphatemia ORPHA:289157
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Weight loss, Elevated circulating C-reactive protein concentration ORPHA:54251
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Pleural emp... ORPHA:544482
Williams-Beuren Syndrome