Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
barttin CLCNK type accessory beta subunit
Synonyms:
Bartter syndrome, infantile, with sensorineural deafness (Barttin)

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Bsnd 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.

The table below shows human diseases associated to Bsnd by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp... ORPHA:89938

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Metabolic acidosis, Hypokalemia, Reduced left ventricular ejection fraction, Hypocalcem... OMIM:620152
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Liddle Syndrome
Hypokalemia, Renal insufficiency, Hypertension, Cerebral ischemia, Arrhythmia, Nephropathy ORPHA:526
Liddle Syndrome 1
Hypokalemic alkalosis, Hypokalemia, Decreased circulating renin level, Hypertension, Renal insuff... OMIM:177200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Decreased serum bicarbonate concentration, Metabolic acidosis, Hypokalemia, Hyperchloremic acidos... OMIM:604278
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... OMIM:214700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased circulating lactate ... OMIM:613845
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemic alkalosis, Hypokalemia, Proximal tubulopathy, Incre... OMIM:241150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Hyperaldosteronism, Familial, Type Iii
Polyuria, Metabolic acidosis, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adr... OMIM:613677
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Pseud... OMIM:264350
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Metabolic acidosis, Hypertension, Hyperchloremic metabolic acidosis, Hyperchloremia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased serum bicarbonate concentration, Metabolic acidosis, Decreased circulatin... OMIM:614492
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Hyperaldosteronism, Acidosis, Increased circulating renin level OMIM:619406
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Metabolic acidosis, Isothenuria, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepatosplenomega... OMIM:611590
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Metabolic acidosis, Hypotension, Increased circulating renin level, Hyponatremia OMIM:620125
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremic metabolic acidosis, Hypertension, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremic metabolic acidosis, Hypertension, Hyperchloremia OMIM:614495
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Metabolic acidosis, Hypokalemia, Renal tubular dysfunction, Gly... OMIM:134600
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Metabolic alkalosis, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypertension, Metabolic alkalosis, Hypokalemia OMIM:618126
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Colchicine Poisoning
Myocarditis, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Abnormality of acid-b... ORPHA:31824
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Hypotension, Increased circulating renin level, Hyponatremia OMIM:203400
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp... ORPHA:89938
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Elevated urine acetoacetic acid level, Metabolic acidosis, Lactic acidosis, 3-hydroxyi... OMIM:615751
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Met... ORPHA:199343
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Metabolic acidosis, Hypokalemia, Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Hyponatremia, Hyperaldostero... OMIM:620126
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Increased circulating renin level, Hyp... OMIM:610600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati... OMIM:300539
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Familial Hypoaldosteronism
Hyperkalemia, Renal salt wasting, Metabolic acidosis, Orthostatic hypotension, Hypotension, Hypov... ORPHA:427
Type 1 Diabetes Mellitus
Polyuria, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis OMIM:222100
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatrem... ORPHA:556037
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Renal Hypoplasia, Bilateral
Hyperkalemia, Metabolic acidosis, Decreased glomerular filtration rate, Vesicoureteral reflux, Hy... ORPHA:97362
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotensi... OMIM:611489
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Metabolic alkalosis, Hypokalemia OMIM:218030
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, ... OMIM:177735
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Metabolic acidosis, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating crea... OMIM:614723
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Hypertension, Hypokalemic metabolic alkalosis, Ne... ORPHA:320
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatrem... ORPHA:556030
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic a... ORPHA:231632
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypercalciuria, Hypertension, Metabolic alkalosis, Epistaxis,... ORPHA:251274
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:241200
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Mixed respiratory and metabolic acidosis, Elevated circulating creat... OMIM:145600
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic alkalosis, Increased urin... ORPHA:231625
Cholera
Acute kidney injury, Lactic acidosis, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Hypovo... ORPHA:173
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic alkalosis, Increased urin... ORPHA:231580
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hyp... ORPHA:79273
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... ORPHA:101016
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis... OMIM:103900
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism, A... ORPHA:404
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Hypertension, Multi... OMIM:613095
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Anemia, Tubulointersti... OMIM:266900
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Gitelman Syndrome
Polyuria, Hypokalemic alkalosis, Prolonged QT interval, Hypokalemia, Hypocalciuria, Renal potassi... OMIM:263800
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Pulmonary ... OMIM:602088
Snakebite Envenomation
Acute kidney injury, Hypotension, Cerebral ischemia, Hyponatremia, Cardiogenic shock, Epistaxis, ... ORPHA:449285
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial... OMIM:615474
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hyperchloremic acidosis, Hypertension OMIM:145260
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Metabolic alkalosi... ORPHA:369929
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia OMIM:606996
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypokalemia, Decrease... ORPHA:3337
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy... OMIM:227810
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Central Diabetes Insipidus
Hyponatremia, Nocturia ORPHA:178029
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... OMIM:613673
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Cystinosis
Delayed puberty, Hypokalemia, Nephropathy, Nephrogenic diabetes insipidus, Hypothyroidism, Protei... ORPHA:213
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Nephronophthisis 9
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Xerostomia, Nephrolithiasis, Hypohidrosis,... OMIM:617671
Mercury Poisoning
Acute kidney injury, Hypokalemia, Hypertension, Hypotension, Tachycardia ORPHA:330021
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Chronic Hiccup
Dehydration ORPHA:396
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Metabolic acidosis, Hypovolemic shock, Increased circulating renin level, Hyponatre... ORPHA:171876
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in females, Elevated urin... ORPHA:90794
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Decreased serum bicarbonate concentration, Hypocitraturia, Decr... ORPHA:18
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Alkalosis, Nephrolithiasis, Hypokalemia OMIM:219090
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Glycosuria, Hyp... ORPHA:411629
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Metabolic acidosis, Glycosuria, Hyperphosphaturia, Elevated cir... OMIM:615605
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased circulating hemoglobin concentration, Elevated circ... OMIM:617907
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased circulating hemoglobin concentration, Elevated circ... OMIM:611783
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Elevated circulating parathyroid hormone level, Anemia, Hypercalciuria, Pri... OMIM:239200
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Lactic acidosis, Pancytopenia, In... OMIM:617872
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,... OMIM:613239
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Hypokalemia OMIM:188580
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria OMIM:125800
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Metabolic acidosis, Hyperuricemia, Hypoc... ORPHA:94093
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Megacystis, Polyuria OMIM:304800
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyperglutaminemia, Alk... OMIM:237310
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Respiratory alkalosis, Low plasma citrulline, Hypo... OMIM:237300
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Hyperkalemic Periodic Paralysis
Hyperkalemia, Congestive heart failure, Hypokalemia, Elevated circulating creatine kinase concent... ORPHA:682
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ... ORPHA:976
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Metabolic acidosis, Hypocalcemia, Hyponatremia, Hypomagnesemia, H... OMIM:618183
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c... OMIM:606966
Legionnaires Disease
Myocarditis, Hematuria, Hypotension, Hyponatremia, Pericarditis, Proteinuria, Arrhythmia, Renal i... ORPHA:549
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Unconjugated hyperbilirubin... ORPHA:90038
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Hypophosphatemia, Episodic me... OMIM:219800
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder... ORPHA:79473
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Proximal Renal Tubular Acidosis
Bicarbonaturia, Low-molecular-weight proteinuria, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Acute Adrenal Insufficiency
Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Hyperuricemia, Hyperkalemic metabolic ... ORPHA:95409
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Adrenal hyperplasia, Precocious pub... ORPHA:786
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Hypertension, Nephrotic syndrome, Micro... ORPHA:84090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Elevated circulating creatinine concentrati... OMIM:620366
Necrotizing Enterocolitis
Metabolic acidosis, Bradycardia, Hypotension, Increased circulating lactate concentration, Hypona... ORPHA:391673
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Renal... ORPHA:189427
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Increased circulating androstenedione concentration, Isosexual precocious pub... ORPHA:90795
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Increased circulating lactate concentration, Microscopic hematuria, In... OMIM:274150
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia, Functional abnormality of the bladder... ORPHA:223
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:154275
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Citrullinemia, Classic
Elevated plasma citrulline, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Respir... OMIM:215700
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Scorpion Envenomation
Prominent U wave, Mixed respiratory and metabolic acidosis, Hypertension, Premature ventricular c... ORPHA:466677
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... ORPHA:100924
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Hyperchloremic acidosis, Proximal ... OMIM:179830
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Hyperprolinemia, L... ORPHA:79246
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Chronic kidney disease, Hypoalbuminemia, Renal ... ORPHA:1667
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroid hyperplasi... OMIM:617994
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Metaboli... OMIM:615962
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Gitelman Syndrome
Delayed puberty, Urinary incontinence, Renal potassium wasting, Hyperhidrosis, Nocturia, Parathyr... ORPHA:358
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hypertension, Renal artery stenosis, Hyponatremia, Renal h... OMIM:617913
Hyperaldosteronism, Familial, Type Iv
Elevated aldosterone:renin ratio, Hyperaldosteronism OMIM:617027
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Citrullinemia Type I
Hyperammonemia, Elevated plasma citrulline, Respiratory alkalosis ORPHA:247525
Familial Renal Glucosuria
Dehydration ORPHA:69076
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immune complex dep... OMIM:613496
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Generalized Pustular Psoriasis
Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Hy... ORPHA:247353
Pearson Syndrome
Steatorrhea, Reticulocytosis, Hypophosphatemia, Splenomegaly, Adrenal insufficiency, Lacticacidur... ORPHA:699
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:154276
Familial Glucocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Recurrent urinary tract infections, Hypotension, Hypertrophic c... ORPHA:361
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De... ORPHA:3467
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Increased circulating lactate concentration, Metabolic acidosis, Patent urachus OMIM:618252
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Arrhyt... ORPHA:57
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Elevated circulating creatine kinase concentration, Focal segmental glomerul... OMIM:616239
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Respiratory alkalosis, Low plasma ... OMIM:311250
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr... OMIM:612933
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Tempi Syndrome
Abnormality of the kidney, Polycythemia, Increased hematocrit ORPHA:284227
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Xanthinuria, Type I
Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr... OMIM:278300
Familial Dysautonomia
Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Hypertension, Hyponatremia, T... ORPHA:1764
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Argininosuccinic Aciduria
Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int... OMIM:207900
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Erythrocytosis, Familial, 2
Increased hematocrit, Increased circulating hemoglobin concentration, Increased red blood cell ma... OMIM:263400
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Metabolic acidosis, Myoglobinuria, Supraventricular tachycardi... ORPHA:423
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia OMIM:300200
Mitochondrial Trifunctional Protein Deficiency 2
Metabolic acidosis, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myogl... OMIM:620300
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro... OMIM:598500
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Metabolic acidosis, Low-output cong... ORPHA:97292
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ... OMIM:202010
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Renal tubular atrop... OMIM:613550
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Renal salt wasting, Penoscrotal hypospadias, Hypospadias, Hypotension, Increased ci... ORPHA:90791
Pyloric Stenosis, Infantile Hypertrophic, 1
Hypochloremic metabolic alkalosis OMIM:179010
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Xerostomia OMIM:175500
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Type I diabetes mellitus, Thrombocytopenia, Prote... ORPHA:275555
Nelson Syndrome
Hypokalemia, Diabetes insipidus, Secondary hypercortisolism, Anterior hypopituitarism, Adrenocort... ORPHA:199244
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Lactic acidosis, Hemat... ORPHA:31826
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Retinal telangiectasia OMIM:620157
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Osteootohepatoenteric Syndrome
Anemia, Increased serum bile acid concentration, Hypokalemia, Proteinuria, Grade II vesicouretera... OMIM:619377
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Schistocytosis, Lymphopenia, Hypere... OMIM:301110
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Elevated urinary 4-hydroxybutyric acid, Metabolic acidosis, Elevated lactate:pyr... OMIM:619003
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Combined Oxidative Phosphorylation Deficiency 3
Lactic acidosis, Elevated lactate:pyruvate ratio, Concentric hypertrophic cardiomyopathy, Elevate... OMIM:610505
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Renal salt wasting, Abnormal circulating cholesterol concentration, Urogenital sinu... ORPHA:168558
Enteric Anendocrinosis
Dehydration ORPHA:83620
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemic alkalosis, Hypertension OMIM:202110
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr... ORPHA:2364
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Renal salt wasting, Abnormal circulating cholesterol concentration, Urogenital sinu... ORPHA:289548
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Urinary retention, Episodic hypo... ORPHA:79102
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Abnormal circulating tryptophan concentration, Hypote... ORPHA:79155
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Renal salt wasting, Hypotension, Pulmonary arterial hypertens... ORPHA:275761
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Relapsing Fever
Acute kidney injury, Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Le... ORPHA:91547
Hawkinsinuria
Metabolic acidosis, Hypothyroidism, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylp... ORPHA:2118
Mirage Syndrome
Hyperkalemia, Hypospadias, Recurrent urinary tract infections, Microphallus, Hyponatremia, Intrac... OMIM:617053
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Myocarditis, Hypocalcemia, Anuria, Nephrotic range proteinuria... ORPHA:544482
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Metabolic acidosis, Blue urine, N... ORPHA:94086
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Metabolic acidosis, Increased circulating lactate concentration, Increased total bi... OMIM:618528
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Galactosemia I
Increased level of galactitol in red blood cells, Metabolic acidosis, Galactosuria, Increased lev... OMIM:230400
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hypotension, Hyponatremia, Pericarditis, Myocardial inf... ORPHA:3452
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Addison Disease
Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Hyperuricemia, Hyperkalemic metabolic ... ORPHA:85138
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
Shigellosis
Myocarditis, Urethritis, Acute kidney injury, Hemolytic-uremic syndrome, Hypovolemic shock, Hypon... ORPHA:810
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Hyp... OMIM:618913
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Hyperechogenic kidn... OMIM:617595
Adenohypophysitis
Hyposthenuria, Hyponatremia, Orthostatic hypotension ORPHA:95512
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Microphallus, Hyponatrem... OMIM:201810
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Hypokalemia, Long penis, Hypothyroidism, Precocious puberty, ... ORPHA:769
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hypotension, Nephrotic syndrome,... ORPHA:85445
Vipoma
Increased circulating gonadotropin level, Hypokalemia, Normochromic anemia, Adrenocortical adenom... ORPHA:97282
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Anemia, Decreased g... ORPHA:85450
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... ORPHA:340
Alg8-Cdg
Hyponatremia ORPHA:79325
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Panhypophysitis
Hyposthenuria, Hyponatremia, Orthostatic hypotension ORPHA:95513
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy, Type I diabetes mellitus OMIM:560000
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hyperuricemia, Hypotension, Hyponatremia, Hypercalcemia ORPHA:199299
Image Syndrome
Adrenal hypoplasia, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyp... ORPHA:542323
Bardet-Biedl Syndrome 17
Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Oligomeganephronia
Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ... ORPHA:2260
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Marburg Hemorrhagic Fever
Lactic acidosis, Abnormality of acid-base homeostasis, Hypokalemia, Bradycardia, Capillary leak, ... ORPHA:99826
8P23.1 Duplication Syndrome
Hydronephrosis, Adrenal insufficiency ORPHA:251076
Diffuse Alveolar Hemorrhage
Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Elevated circulating creatinine c... ORPHA:90060
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti... OMIM:162000
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hypokalemia, Long penis, Hypercalciuria, Increased circulating... ORPHA:508
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Reticular Dysgenesis
Dehydration ORPHA:33355
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Lactic acidosis, Metabolic acidosis, Hyperglutamatem... ORPHA:3008
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Metabolic acidosis, Anemia, Recurren... ORPHA:93598
Acute Liver Failure
Acute kidney injury, Gastrointestinal hemorrhage, Hypotension, Hyperammonemia, Acidosis, Intracra... ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Gastrointestinal hemorrhage, Increased serum bile acid conc... ORPHA:731
Andersen-Tawil Syndrome
Renal hypoplasia, Hyperaldosteronism, Renal tubular dysfunction ORPHA:37553
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl... OMIM:614376
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Syncope, Palpitatio... OMIM:170390
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerula... OMIM:104200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal circulating citrulline concentration, Hyperornithinemia, Oroticaciduria, Hyperammonemia,... ORPHA:415
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Hydronephrosis, Hydroureter OMIM:618240
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Hyposthenuria, Hyponatremia, Palpitations ORPHA:91355
Rabin-Pappas Syndrome
Hyponatremia, Retinal telangiectasia OMIM:620155
Teratoma, Pineal
Polyuria OMIM:273120
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Hypokalemia OMIM:174900
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Elevated ci... ORPHA:49041
Familial Cold Urticaria
Dehydration ORPHA:47045
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension... ORPHA:159
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... ORPHA:79644
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency, Hypogonadism OMIM:615996
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas... ORPHA:91500
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly... OMIM:618885
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria,... ORPHA:411536
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Lactic acidosis, Prolonged QT interval, Hypocalcemia, Sinus ta... ORPHA:466650
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system, Hypotension OMIM:267430
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Anemia, Tubulointerstitial fibrosis, Polycystic kidney dys... OMIM:243910
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Metabolic acidosis, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, H... OMIM:616026
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Isovaleric Acidemia
Dehydration OMIM:243500
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Hypothyroidism, Sidero... OMIM:222300
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis, Aminoaciduria OMIM:204730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Decreased serum bicarbonate concentration, Long-chain dica... OMIM:608836
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Maturity-onset diabetes... OMIM:137920
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... ORPHA:93126
Systemic Capillary Leak Syndrome
Myocarditis, Abnormal renal tubule morphology, Hypotension, Pericarditis, Arrhythmia, Oliguria, R... ORPHA:188
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Bradycardia, Cardiomyopathy, Elevated circulating creatine kinase concentr... OMIM:212138
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated ur... OMIM:171400
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hypotension ORPHA:293978
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Autoimmune hemolytic anemia, Metabolic acidosis, Elevated circulating C-rea... OMIM:619573
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Metabolic acid... OMIM:277400
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Cerebrooculofacioskeletal Syndrome 1
Dehydration OMIM:214150
Beta-Ketothiolase Deficiency
Metabolic acidosis, Hyperuricemia, Hypertension, Hypotension, Increased circulating lactate conce... ORPHA:134
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Hypothyroidism, Thrombocytopenia, Decreased circulating T4 concentration, Hypoalbuminemia... OMIM:608104
Alg12-Cdg
Hypospadias, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Micropenis ORPHA:79324
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype... OMIM:211900
Multiple Myeloma
Acute kidney injury, Anemia, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Splen... ORPHA:29073
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypocalcemia, Hypercalciuria, Hypotension, Hypermagnesiuria, Nephrocalc... ORPHA:428
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... ORPHA:2237
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Ureteropelvic junction obstruction... OMIM:154230
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Lymphopenia, Reduce... ORPHA:90363
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia OMIM:615508
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturi... ORPHA:230
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Renal phosphate wasting, Pancytopenia, Precocio... ORPHA:562
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Oliguria, ... ORPHA:514
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Proteinuria, Elevated circulating c... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kina... OMIM:618838
Harlequin Ichthyosis
Dehydration ORPHA:457
Hawkinsinuria
Hawkinsinuria, Metabolic acidosis, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyph... OMIM:140350
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Stevens-Johnson Syndrome
Pancreatitis, Anemia, Renal insufficiency, Dysuria, Thrombocytopenia, Abnormality of neutrophils,... ORPHA:36426
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Metabolic acidosis, Hypocalcemia, Recurrent urinary tr... ORPHA:36234
Igg4-Related Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Urinary bladder inflammation, Acu... ORPHA:449395
Holoprosencephaly
Hypoplasia of penis, Hyponatremia, Proteinuria, Arrhythmia, Abnormality of the urinary system ORPHA:2162
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Johanson-Blizzard Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Exocrine pancreatic in... ORPHA:2315
Japanese Encephalitis
Hyponatremia ORPHA:79139
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Liver Disease, Severe Congenital
Metabolic acidosis, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Recurrent urinary tract infect... OMIM:619991
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Propionic Acidemia
Dehydration OMIM:606054
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hyperammonemia, Hydronephrosis, Conjugated hyperbilirubinemia, Decr... OMIM:617093
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Hyponatremia, Epistaxis, Increased circulating ferritin co... ORPHA:167
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Lamellar Ichthyosis
Dehydration ORPHA:313
Meningococcal Meningitis
Renal insufficiency, Hypotension, Elevated circulating C-reactive protein concentration, Shock ORPHA:33475
Hyperuricemia, Hprt-Related
Renal insufficiency, Hyperuricosuria, Nephrolithiasis, Hyperuricemia OMIM:300323
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration ORPHA:449400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Glomerular sclerosis, Increased blood urea nitrogen, Abnormal renal physi... OMIM:223900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Elevated circulating creatine k... OMIM:301056
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hydronephrosis, Hypercholesterolemia, Unilateral renal agenesis OMIM:620454
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Hepatosplenomegaly, Decreased serum zinc, Diabetes ... ORPHA:541423
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Metabolic acidosis OMIM:620423
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Prune Belly Syndrome
Xerostomia, Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Lujo Hemorrhagic Fever
Myocarditis, Metabolic acidosis, Elevated circulating C-reactive protein concentration, Bradycard... ORPHA:319213
Sepsis In Premature Infants
Metabolic acidosis, Elevated circulating C-reactive protein concentration, Bradycardia, Tachycard... ORPHA:90051
Osteopetrosis With Renal Tubular Acidosis
Metabolic acidosis, Anemia, Renal tubular acidosis, Hypocalcemia, Pancytopenia, Nephrolithiasis, ... ORPHA:2785
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
Microscopic Polyangiitis
Congestive heart failure, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Vasculitis, Per... ORPHA:727
Dietary Iron Overload Disease
Abnormal adrenal morphology, Abnormal thyroid morphology, Elevated hepatic iron concentration, Di... ORPHA:139507
Hyperuricemic Nephropathy, Familial Juvenile, 3
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... OMIM:614227
Cystinuria
Renal insufficiency, Hematuria, Nephrolithiasis, Hyperuricemia ORPHA:214
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Dehydration OMIM:208085
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Netherton Syndrome
Dehydration ORPHA:634
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Hypertensive crisis, Pulmonary arterial hypertension, Telangiectasia of... ORPHA:220393
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary prolactin cell aden... OMIM:131100
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,... ORPHA:158684
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Tetraploidy
Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Cocaine Intoxication
Acute kidney injury, Ischemic stroke, Myocardial infarction, Hematuria, Prolonged QT interval, Ta... ORPHA:90068
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Lactic acidosis, Metabolic acidosis, Hyperuricemia, ... OMIM:229600
Adult Acute Respiratory Distress Syndrome
Metabolic acidosis, Vasculitis, Hypotension, Diabetic ketoacidosis, Shock ORPHA:70578
Dengue Fever
Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Epistaxis, Cerebral hemorrhage ORPHA:99828
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hydronephrosis, Splenomegaly, Micropenis, Thyroid lymphangiectasia OMIM:235255
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:608885
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Decreased response to growth hormone stimulation test, Hydronephrosis, Hyposp... OMIM:220210
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Dend Syndrome
Dehydration ORPHA:79134
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormality of t... ORPHA:1834
Yellow Fever
Acute kidney injury, Decreased serum bicarbonate concentration, Metabolic acidosis, Hyperbilirubi... ORPHA:99829
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Hematuria, Aortic regurgitation, Melena, Hypotension, Pulmonic steno... ORPHA:99147
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Hypertension, Pulmonary arterial hyperte... OMIM:606721
Serotonin Syndrome
Acute kidney injury, Lactic acidosis, Hypertension, Hypotension, Tachycardia ORPHA:43116
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronephrosis, Hepatosplenomegaly, Spl... ORPHA:1655
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Enuresis ORPHA:293987
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Hydronephrosis, Thrombocytopenia... OMIM:611209
3-Hydroxy-3-Methylglutaric Aciduria
Metabolic acidosis, Hyperuricemia, Cardiac arrest, Hypotension, Increased circulating lactate con... ORPHA:20
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:618494
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Anemia, Duplicated collecting system, Abnormality... ORPHA:79404
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Scrub Typhus
Myocarditis, Renal insufficiency, Hypotension ORPHA:83317
Trisomy 13
Hydronephrosis, Displacement of the urethral meatus, Multiple renal cysts, Abnormality of the ureter ORPHA:3378
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hypospadias, Vesicovaginal fistula, Decreased circulating renin level, Hypertension... OMIM:201750
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Displacement of the urethral meatus, Urethral s... ORPHA:1727
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Junctional Epidermolysis Bullosa With Pyloric Atresia