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Gene: Bsnd MGI:2153465

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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)

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... OMIM:602522
Bartter Syndrome Type 4
Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I... 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
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... OMIM:613090
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Liddle Syndrome 1
Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating reni... OMIM:177200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... OMIM:214700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increas... OMIM:613845
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... OMIM:241150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... OMIM:602522
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Hyperaldosteronis... OMIM:613677
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin... OMIM:264350
Hypokalemic Tubulopathy And Deafness
Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting OMIM:619406
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... OMIM:607364
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Metabolic acidosis, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis OMIM:614496
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hypertension, Hyperc... OMIM:614492
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Hypotension OMIM:620125
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Metabolic acidosis, Nephrocal... OMIM:611590
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension OMIM:614495
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Liddle Syndrome 2
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Hyperparathyroidism, Increased serum prostagla... OMIM:601678
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Congestive heart failure... ORPHA:31824
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Bartter Syndrome Type 4
Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I... ORPHA:89938
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa... OMIM:615751
East Syndrome
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald... ORPHA:199343
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... OMIM:620126
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Increased circulating re... OMIM:610600
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... OMIM:601198
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... ORPHA:427
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Type 1 Diabetes Mellitus
Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Apparent Mineralocorticoid Excess
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level OMIM:218030
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... OMIM:612780
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... OMIM:137950
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... OMIM:143880
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... ORPHA:320
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost... OMIM:177735
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:251274
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Intracranial hemorrhage, Hypertensio... ORPHA:231625
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re... OMIM:241200
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... OMIM:145600
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentra... ORPHA:173
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Hypertension, Hypokalemia, Palpitati... ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Epistaxis, Metabolic alkalosis, Renal cortical adenoma, Hypertension, Hypokalemia, Decreased circ... ORPHA:231632
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Metabolic alkalosis, Abnormal circulating renin, Nephrolithiasis, Hypokalemi... ORPHA:369929
Hereditary Coproporphyria
Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... ORPHA:79273
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Gitelman Syndrome
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Ventricular tach... OMIM:263800
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Pseudohypoaldosteronism, Type Iia
Hyperchloremic acidosis, Hypertension, Hyperkalemia OMIM:145260
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Metabolic alkalosis, Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular b... OMIM:615474
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Senior-Loken Syndrome 4
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Hyperchloremic metabolic acidosis, Chronic kidney dise... ORPHA:3337
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Central Diabetes Insipidus
Hyponatremia, Nocturia ORPHA:178029
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Chronic acidosis, Hypercalciuria, Genera... OMIM:227810
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... ORPHA:73224
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Cystinosis
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Amin... ORPHA:213
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypotension ORPHA:199296
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... OMIM:617671
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Hypokalemia, Nephrolithiasis, Alkalosis OMIM:219090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Mercury Poisoning
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Chronic Hiccup
Dehydration ORPHA:396
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism... OMIM:239200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat... ORPHA:90794
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hypovolemic shock, Increased circulating renin le... ORPHA:171876
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Palpitations OMIM:188580
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Megacystis, Polyuria OMIM:125800
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Megacystis, Polyuria OMIM:304800
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyro... OMIM:617872
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Necrotizing Enterocolitis
Hyponatremia, Shock, Increased serum lactate, Metabolic acidosis, Bradycardia, Hypotension, Acidosis ORPHA:391673
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hypo... OMIM:237300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Metabolic acidosis, Hematochezia, Hypoalbuminemia, ... OMIM:618183
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,... OMIM:615605
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... ORPHA:79473
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Myocardial infarction,... ORPHA:95409
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Metabolic alkalosis, I... ORPHA:786
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Impaired myocardial contractility ORPHA:681
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension... ORPHA:549
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... ORPHA:90795
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... ORPHA:223
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Thrombocytopeni... OMIM:274150
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia ORPHA:79246
Citrullinemia, Classic
Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated... OMIM:215700
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Malignant Hyperthermia, Susceptibility To, 2
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... ORPHA:100924
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Ketoacidosis, Chronic kidney disease, Hyperammonemia, Hypoalbu... ORPHA:1667
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Glucocorticoid Resistance, Generalized
Metabolic alkalosis, Increased circulating ACTH level, Increased circulating cortisol level, Incr... OMIM:615962
Scorpion Envenomation
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Promin... ORPHA:466677
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka... OMIM:617913
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Porphy... ORPHA:79276
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Glycogen Storage Disease Xi
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... OMIM:612933
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Congest... ORPHA:247353
Citrullinemia Type I
Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia ORPHA:247525
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Pearson Syndrome
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... ORPHA:699
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia OMIM:608688
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Malignant Hyperthermia, Susceptibility To, 3
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in... ORPHA:57
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... OMIM:616239
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c... OMIM:311250
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuri... ORPHA:361
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Tempi Syndrome
Polycythemia, Increased hematocrit, Abnormality of the kidney ORPHA:284227
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus OMIM:618252
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... ORPHA:1764
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Elevated circulating e... OMIM:263400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... OMIM:620300
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Prema... ORPHA:423
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Argininosuccinic Aciduria
Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaci... OMIM:207900
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Pyloric Stenosis, Infantile Hypertrophic, 1
Hypochloremic metabolic alkalosis OMIM:179010
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, H... ORPHA:90791
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... ORPHA:31826
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
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
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... ORPHA:2364
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro... OMIM:619003
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypovolem... ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemic alkalosis, Hypertension OMIM:202110
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypovolem... ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... OMIM:610505
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration... OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... ORPHA:79102
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb... OMIM:618528
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... ORPHA:79644
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Enteric Anendocrinosis
Dehydration ORPHA:83620
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, ... ORPHA:94086
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H... ORPHA:275761
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis ORPHA:83601
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... ORPHA:544482
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Intracranial hemorrh... OMIM:617053
Addison Disease
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Decreased urinary potassium, Renal salt was... ORPHA:85138
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo... ORPHA:3452
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci... ORPHA:79155
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension ORPHA:199299
Shigellosis
Hyponatremia, Hemolytic-uremic syndrome, Myocarditis, Urethritis, Abnormal blood ion concentratio... ORPHA:810
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... OMIM:201810
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... ORPHA:97289
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Hyposthenuria ORPHA:95512
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... ORPHA:769
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Galactosemia I
Hemolytic anemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Metabo... OMIM:230400
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Alg8-Cdg
Hyponatremia ORPHA:79325
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Image Syndrome
Hypogonadism, Hypospadias, Hydronephrosis, Adrenal hypoplasia ORPHA:85173
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Hyposthenuria ORPHA:95513
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Vipoma
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... ORPHA:97282
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Polyuria OMIM:560000
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Webb-Dattani Syndrome
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis ORPHA:251076
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Marburg Hemorrhagic Fever
Shock, Renal insufficiency, Abnormality of acid-base homeostasis, Tachycardia, Elevated circulati... ORPHA:99826
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I... ORPHA:3008
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... ORPHA:508
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Reticular Dysgenesis
Dehydration ORPHA:33355
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Hyperammonemia, Alkalosis, Intracranial hemorrhage, Hypotensi... ORPHA:90062
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc... ORPHA:731
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Andersen-Tawil Syndrome
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia ORPHA:37553
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom... OMIM:170390
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Teratoma, Pineal
Polyuria OMIM:273120
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Hydroureter, Hydronephrosis OMIM:618240
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Abnormal circulating ci... ORPHA:415
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Hyposthenuria, Palpitations, Bradycardia ORPHA:91355
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Hypoalbuminemia OMIM:174900
Rabin-Pappas Syndrome
Hyponatremia, Retinal telangiectasia OMIM:620155
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Familial Cold Urticaria
Dehydration ORPHA:47045
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,... ORPHA:159
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:615996
Isovaleric Acidemia
Dehydration OMIM:243500
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat... ORPHA:90060
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri... OMIM:212138
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp... ORPHA:466650
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg... OMIM:222300
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinos... OMIM:616026
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Hypotension ORPHA:293978
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi... OMIM:618885
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis OMIM:204730
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... OMIM:608836
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Cerebrooculofacioskeletal Syndrome 1
Dehydration OMIM:214150
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... ORPHA:411536
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Alg12-Cdg
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis ORPHA:79324
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Beta-Ketothiolase Deficiency
Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hypertensio... ORPHA:134
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... ORPHA:428
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Parathyroi... ORPHA:2237
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Decreased circulating T4 ... OMIM:608104
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... OMIM:154230
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Hyperin... ORPHA:230
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperphosphaturia, Pancytopenia, Hyperthyroidism, Elevated circula... ORPHA:562
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis OMIM:615508
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Oliguria, Central hypothyroidism, Lymphocytosis, Hypochro... ORPHA:514
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 41
Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce... OMIM:618838
Harlequin Ichthyosis
Dehydration ORPHA:457
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... OMIM:140350
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... ORPHA:247691
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Abnormality of the urinary system, Arrhythmia ORPHA:2162
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... ORPHA:36234
Stevens-Johnson Syndrome
Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnorm... ORPHA:36426
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Hypoproteinemia, Hydronephrosis, Anemia, Exo... ORPHA:2315
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Japanese Encephalitis
Hyponatremia ORPHA:79139
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo... ORPHA:167
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Propionic Acidemia
Dehydration OMIM:606054
Meningococcal Meningitis
Hypotension, Renal insufficiency, Shock, Elevated circulating C-reactive protein concentration ORPHA:33475
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... OMIM:617093
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Lamellar Ichthyosis
Dehydration ORPHA:313
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria 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
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Nephrolithias... ORPHA:2785
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Decreased serum zinc, Hydron... ORPHA:541423
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Le... OMIM:301056
Familial Renal Glucosuria
Dehydration ORPHA:69076
Prune Belly Syndrome
Xerostomia, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Oliguria, Metabolic acidosis,... ORPHA:90051
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:139507
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... OMIM:229600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... ORPHA:319213
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... ORPHA:727
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Oligohydramnios OMIM:208085
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Elevated circulating creatinine concentration, Increased blood urea nitro... OMIM:223900
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... OMIM:131100
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Tetraploidy
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... ORPHA:913
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... ORPHA:220393
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension ORPHA:70578
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Enuresis, Hyperlipidemia, Hyperkalemia ORPHA:293987
Netherton Syndrome
Dehydration ORPHA:634
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... ORPHA:90068
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia ORPHA:99828
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation... OMIM:220210
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Splenomegaly, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis OMIM:235255
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Serotonin Syndrome
Tachycardia, Lactic acidosis, Hypertension, Hypotension, Acute kidney injury ORPHA:43116
Dend Syndrome
Dehydration ORPHA:79134
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... ORPHA:99147
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalcemia, Micropenis, Hypoprotei... ORPHA:1655
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, H... OMIM:611209
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Cardiac arrest, Increased serum lactate, Dilated cardiomyopathy, Hyperammonemia, Metab... ORPHA:20
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte... OMIM:606721
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Hyperkalemia, Horseshoe kidney, Micropenis, Hypertension, Chordee, Ves... OMIM:201750
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Aplasia/Hypoplasia of the thymus, Urethral stenosis, Hydrone... ORPHA:1727
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Scrub Typhus
Myocarditis, Renal insufficiency, Hypotension ORPHA:83317
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:97283
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur ORPHA:1054
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Zttk Syndrome
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Adrenal hypoplasia, Albuminuria, Aminoaciduria, Elevated circulating long chain fatt... OMIM:214100
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d... ORPHA:96169
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... OMIM:146510
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Hartsfield Syndrome
Micropenis, Hypernatremia, Hypospadias OMIM:615465
Glucagonoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos... ORPHA:97280
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Thyroid lymphangiectasia, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflu... OMIM:235510
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... ORPHA:289176
Zellweger Syndrome
Primary adrenal insufficiency, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Hydronephrosis, Elevated circulating creatine kinas... OMIM:614921
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Intermittent thrombocytopenia, Erythroid hypoplasia, Urachus ... OMIM:612541
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis, Anemia ORPHA:163979
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis, Adrenal hypoplasia ORPHA:7
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Thrombocytopenia OMIM:610733
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Hyperhidrosis, Xanthelasma, Diabetes... ORPHA:35687
Congenital Disorder Of Glycosylation, Type Iie
Splenomegaly, Neurogenic bladder, Hydronephrosis, Elevated circulating creatine kinase concentration OMIM:608779
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Congenital Enterovirus Infection
Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension ORPHA:292
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Lassa Fever
Shock, Oliguria ORPHA:99824
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Chondrodysplasia Punctata 2, X-Linked Dominant
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis OMIM:302960
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Elevated circulating C-reactive protein concentration ORPHA:36238
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... OMIM:301040
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... OMIM:618460
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hypogonadism, Hydronephrosis OMIM:612513
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney, Delayed puberty ORPHA:2510
Ppoma
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... ORPHA:97278
Carpenter Syndrome 1
Precocious puberty, Hydroureter, Hydronephrosis, Polysplenia OMIM:201000
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy... OMIM:616737
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... ORPHA:244242
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Perry Syndrome
Hypotension ORPHA:178509
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Nipah Virus Disease
Hypotension ORPHA:99825
Grfoma
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... ORPHA:97261
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Abnormal hemo... ORPHA:847
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Vascular Ehlers-Danlos Syndrome
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper... ORPHA:286
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration ORPHA:79282
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Asplenia, Horseshoe kidney, Multiple renal cysts, Hydroneph... ORPHA:99776
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplastic spleen,... OMIM:601186
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol,... OMIM:308050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... OMIM:614080
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis OMIM:155310
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Craniofacioskeletal Syndrome
Hypocalcemia, Hypospadias, Hydronephrosis OMIM:300712
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Raine Syndrome
Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hypogonadism, Hydronephrosis ORPHA:261349
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... ORPHA:49
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
Leptospirosis
Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su... ORPHA:509
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... OMIM:304150
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Abnormality of thyroid physiology, Renal dysplasia OMIM:300968
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Xer... ORPHA:1896
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypotension ORPHA:439822
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Thrombocytopenia, Acute lymphoblasti... ORPHA:235
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... OMIM:604292
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... OMIM:619381
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased circulating parat... OMIM:188400
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Hypothyroidism, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus OMIM:619269
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension ORPHA:93256
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydronephrosis, Hyperhidrosis OMIM:115150
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Posterior pituitary hypoplasia, Micropenis, P... ORPHA:464311
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration ORPHA:99885
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, In... OMIM:619534
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytop... OMIM:251260
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Renal cyst, Micropenis, Pe... ORPHA:464306
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... ORPHA:90324
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to growth hormone s... OMIM:129900
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Microsporidiosis
Dehydration ORPHA:2552
Distal Deletion 12Q
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Pituitary adenoma, Polyc... ORPHA:96149
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the endocr... ORPHA:487796
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:250989
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... ORPHA:438213
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Multiple bladder diverticula, Hyd... OMIM:613177
White-Kernohan Syndrome
Hydroureter, Hypothyroidism, Hydronephrosis, Horseshoe kidney OMIM:619426
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... ORPHA:363958
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Tarp Syndrome
Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney ORPHA:2886
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... ORPHA:100075
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Hypoplasia of the ovary, Abnormal renal artery mo... ORPHA:79328
Opitz Gbbb Syndrome
Hypospadias, Abnormality of the urinary system, Vesicoureteral reflux, Thyroglossal cyst, Hydrone... ORPHA:2745
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis, Exocrine pancreat... ORPHA:2750
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Congenital Alveolar Capillary Dysplasia
Asplenia, Hydronephrosis ORPHA:210122
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder, Congenital hypothyroidism OMIM:616973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... OMIM:615287
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Holoprosencephaly 3
Central diabetes insipidus, Hydronephrosis OMIM:142945
Apert Syndrome
Hydronephrosis, Hyperhidrosis OMIM:101200
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Schinzel-Giedion Syndrome
Myeloid leukemia, Hypospadias, Streak ovary, Abnormality of the ureter, Nephrolithiasis, Renal cy... ORPHA:798
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Cystic Fibrosis
Dehydration OMIM:219700
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Hyperhidrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Hyperhidrosis ORPHA:352665
Cousin Syndrome
Hydronephrosis OMIM:260660
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Micropenis, Hydronephrosis OMIM:269150
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Polysplenia, Hydronephrosis OMIM:229850
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Acute lymphoblastic leukemia, Ureteropelvic junction obstruction, H... OMIM:280000
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Dilatation of the renal pelvis, Stage 5 chronic ... ORPHA:2044
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Charge Syndrome
Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h... OMIM:214800
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Acute leukemia ORPHA:3474
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Webbed penis, Micropeni... ORPHA:97360
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Thrombocytopenia ORPHA:2308
Monosomy 22Q13.3
Hypohidrosis, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:99889
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Hypogonadotropic hypogonad... ORPHA:3455
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Charge Syndrome
Hypogonadotropic hypogonadism, Horseshoe kidney, Abnormality of the adrenal glands, Delayed puber... ORPHA:138
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Premature thelarche, Autoimmune thrombocytopenia, ... OMIM:147920
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... ORPHA:79500
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Renal cys... ORPHA:1606
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormal circulat... ORPHA:2636
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Hy... OMIM:265380
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration,... OMIM:243800
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Okamoto Syndrome
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hypothyroidism, Hydronephrosis, Decreased response to growth ... ORPHA:506358
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hypospadias, Premature thelarche, Leukemia, Hydronephrosis OMIM:180849
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Hydronephrosis OMIM:620330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... ORPHA:353281
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Congen... ORPHA:709
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Severe B lymphocytopenia, B lymphocytopenia, Hydronephrosis ORPHA:83617
Campomelic Dysplasia
Hypospadias, Hydronephrosis OMIM:114290
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Xerostomia, Renal hypoplasia, Hydronephrosis ORPHA:2363
Prolactinoma
Hypotension ORPHA:2965
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Hypohidrosis, Hyd... ORPHA:2273
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353277
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic islet-cell hyperpl... OMIM:312870
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Hydronephrosis, Adrenal gland dysgenesis OMIM:236680
Neuroendocrine Neoplasm Of Appendix
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension ORPHA:100079
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Abnormal circulating thyroid hormone concentration, Renal dysplasia, Delayed puberty ORPHA:480880
Genitopatellar Syndrome
Hypothyroidism, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Chordee, Vesicouretera... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Asple... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Duplication of renal p... ORPHA:261552
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Viss Syndrome
Hypothyroidism, Hypereosinophilia, Hydronephrosis OMIM:619472
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bsnd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bsnd.

No publications found that use IMPC mice or data for Bsnd.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Bsndtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bsndtm36500(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bsndtm36500(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Bsndtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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