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Gene: Clcnkb MGI:1930643

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Gene Summary

Name:
chloride channel, voltage-sensitive Kb
Synonyms:
Clck2,  ClC-K2,  Clcnk2,  Clcnk1l

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
increased circulating creatinine level Clcnkbem1(IMPC)Mbp HOM Early adult 4.99×10-05
increased circulating cholesterol level Clcnkbem1(IMPC)Mbp HOM Late adult 1.38×10-06
decreased mean corpuscular hemoglobin Clcnkbem1(IMPC)Mbp HOM Late adult 5.04×10-08
abnormal ovary morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
small heart Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
enlarged liver Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
improved glucose tolerance Clcnkbem1(IMPC)Mbp HOM Late adult 1.93×10-17
abnormal stomach morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased circulating alkaline phosphatase level Clcnkbem1(IMPC)Mbp HOM Late adult 1.05×10-17
abnormal liver morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased blood urea nitrogen level Clcnkbem1(IMPC)Mbp HOM Early adult 1.19×10-23
decreased total body fat amount Clcnkbem1(IMPC)Mbp HOM Early adult 4.62×10-10
decreased lymphocyte cell number Clcnkbem1(IMPC)Mbp HOM Early adult 6.66×10-05
abnormal heart morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
decreased locomotor activity Clcnkbem1(IMPC)Mbp HOM   Early adult 5.11×10-06
increased neutrophil cell number Clcnkbem1(IMPC)Mbp HOM   Early adult 2.57×10-06
increased red blood cell distribution width Clcnkbem1(IMPC)Mbp HOM Early adult 4.32×10-06
shortened QRS complex duration Clcnkbem1(IMPC)Mbp HOM Early adult 5.58×10-05
enlarged lymph nodes Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
small testis Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased lean body mass Clcnkbem1(IMPC)Mbp HOM Early adult 3.12×10-10
decreased mean corpuscular volume Clcnkbem1(IMPC)Mbp HOM Late adult 1.15×10-08
abnormal skin morphology Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased basophil cell number Clcnkbem1(IMPC)Mbp HOM Early adult 2.89×10-05
abnormal heart shape Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
increased grip strength Clcnkbem1(IMPC)Mbp HOM Late adult 5.14×10-07
increased circulating creatinine level Clcnkbem1(IMPC)Mbp HOM Late adult 4.71×10-14
shortened QT interval Clcnkbem1(IMPC)Mbp HOM   Early adult 3.97×10-05
small kidney Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
improved glucose tolerance Clcnkbem1(IMPC)Mbp HOM Early adult 4.29×10-06
abnormal lymph node morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased circulating calcium level Clcnkbem1(IMPC)Mbp HOM   Early adult 4.57×10-05
enlarged urinary bladder Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased fasting circulating glucose level Clcnkbem1(IMPC)Mbp HOM Early adult 4.00×10-10
abnormal skin morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
decreased heart weight Clcnkbem1(IMPC)Mbp HOM Early adult 6.41×10-11
enlarged spleen Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased circulating alkaline phosphatase level Clcnkbem1(IMPC)Mbp HOM   Early adult 2.94×10-05
abnormal bone structure Clcnkbem1(IMPC)Mbp HOM   Early adult 3.82×10-07
increased blood urea nitrogen level Clcnkbem1(IMPC)Mbp HOM Late adult 2.00×10-11

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

47 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Clcnkb 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 predicted to be associated to Clcnkb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... OMIM:607364
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Proximal renal tubular acidosis, ... ORPHA:427
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Hyponatr... OMIM:203400
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... OMIM:601678
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556030
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... OMIM:613090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Diabetes Insipidus, Neurohypophyseal, X-Linked
Alkalosis, Polyuria, Hypokalemia, Hydronephrosis OMIM:304900
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... OMIM:241200
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... OMIM:248250
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Short stature, Metabolic acidosis, Proximal renal tubular acidosis, Decreased serum ... OMIM:604278
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Short stature, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatr... ORPHA:223
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Impaired renal concentrating abilit... ORPHA:89938
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Metabolic acidosis, Hypercalciuria, Distal renal tubular acidosis, Growth delay, Nep... OMIM:602722
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Distal Renal Tubular Acidosis
Hyperchloremic metabolic acidosis, Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Dec... ORPHA:18
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypokale... ORPHA:73224
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Aminoaciduria, Hypokalemia, Short stature,... OMIM:134600
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... OMIM:248190
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Juvenile Nephropathic Cystinosis
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... ORPHA:411634
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... OMIM:241150
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Decreased circulating cortisol level, Orthostatic hypote... ORPHA:95409
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Hypokalemia, Short stature, Metabolic acidosis, Distal renal t... OMIM:611590
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increased circulati... OMIM:263800
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Short stature, Polyuria, Hypocalciuria, Increased circulating renin ... OMIM:612780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Polyuria, Hypochloremic metabolic alkalosis, Hyperechogen... OMIM:613845
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Proximal Renal Tubular Acidosis
Nephrolithiasis, Growth delay, Hypokalemia, Aminoaciduria, Mild postnatal growth retardation, Sho... ORPHA:47159
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Renal magnesium wasting, Renal so... ORPHA:199343
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Decreased circulating aldosterone level, Hypokalemia, Short stat... ORPHA:320
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... OMIM:613677
Liddle Syndrome
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Liddle Syndrome 1
Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis, Renal insufficiency, Decreased circulati... OMIM:177200
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... OMIM:143880
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Respiratory... OMIM:615751
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hypotension, Increased circulating renin level, Hyperaldost... OMIM:177735
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hypotension, Hype... OMIM:145600
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Gaisböck Syndrome
Angina pectoris, Peripheral arterial stenosis, Hypovolemia, Hyperproteinemia, Increased circulati... ORPHA:90041
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... ORPHA:289548
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Type 1 Diabetes Mellitus
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Glomerulopathy With Fibronectin Deposits 1
Acidosis, Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobu... OMIM:137950
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized amino... OMIM:227810
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoal... OMIM:264350
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Renal Tubular Acidosis Iii
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Hypotension, Urinary incontinence OMIM:156310
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased urinary potassium, Increas... ORPHA:231625
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... ORPHA:90794
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate, Nephrotic syndrome, Proteinuria OMIM:614652
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Microvillus Inclusion Disease
Hypovolemia, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Portal f... ORPHA:370
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Metabolic acidosis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, ... OMIM:614723
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Abnormality of the kidney, Helico... ORPHA:275555
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hypokalemia, Hyponatremia, Growth delay, Hyperaldosteronism... OMIM:214700
Primary Fanconi Renotubular Syndrome
Hyperchloremic metabolic acidosis, Renal phosphate wasting, Chronic kidney disease, Hypophosphate... ORPHA:3337
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... ORPHA:567548
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Decreased circulatin... ORPHA:231580
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hyperphosphatemia, Nephrocalcinosis ORPHA:428
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhythmia, Increased c... ORPHA:171876
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Cystinosis
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Nephropat... ORPHA:213
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hypovolemia, Abnormal urine potassium concentration, Hypotension, Hypertri... ORPHA:275761
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nep... ORPHA:85445
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia, Abnormal heart morphology DECIPHER:16
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL ch... OMIM:615703
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... ORPHA:543
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Portal f... ORPHA:264580
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Hypokalemia, Precocious puberty, Short stature, Decreased cir... ORPHA:90795
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... OMIM:606966
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Tyrosinemia, Type I
Melena, Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Gastrointestinal hemo... OMIM:276700
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Prem... ORPHA:100025
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Glycos... ORPHA:99885
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Infantile Nephropathic Cystinosis
Hyperchloremic metabolic acidosis, Renal tubular dysfunction, Growth delay, Acidosis, Hypophospha... ORPHA:411629
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Apparent Mineralocorticoid Excess
Growth delay, Decreased circulating aldosterone level, Hypokalemia, Short stature, Decreased circ... OMIM:218030
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... ORPHA:405
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia, Metabolic alkalosis ORPHA:251274
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypokalemia, Decreased circulating renin level, Pulmonary arterial hypertension,... OMIM:615474
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... OMIM:103900
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level OMIM:167100
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Duplicated collecting system, Intrauterine growth retardation, Hydr... OMIM:617093
Saccharopinuria
Histidinuria, Citrullinuria, Elevated circulating sacchoropine concentration, Short stature, Hype... OMIM:268700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... OMIM:608836
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hydronephrosis OMIM:247990
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Lcat Deficiency
Premature coronary artery atherosclerosis, Decreased glomerular filtration rate, Decreased circul... ORPHA:650
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Patent foramen ovale,... OMIM:601005
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Impotence,... OMIM:235200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... OMIM:613095
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Chronic tubulointerstitial nephritis, Nephrono... OMIM:602088
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Short stature, Polyuria, Hypernatremia, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Hypernatremia, Megacystis, Diabetes insipidus OMIM:304800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Metabolic acidosis, Renal cortical... OMIM:611555
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogon... ORPHA:79237
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
Cholera
Abnormality of renal excretion, Acidosis, Hypokalemia, Hypocalcemia, Abnormal blood ion concentra... ORPHA:173
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Tiglic Acidemia
Acidosis, Aminoaciduria OMIM:275190
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Combined Oxidative Phosphorylation Deficiency 24
Increased serum lactate, Elevated circulating creatine kinase concentration, Metabolic alkalosis,... OMIM:616239
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Elevated circulating creatinine concentration, Nephropathy, Decreased glome... OMIM:242530
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia OMIM:617671
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Hypoglycemia, Hypercholesterolemia, Insulin resis... ORPHA:181393
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis... ORPHA:79240
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Alkalosis, Hypokalemia OMIM:219090
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury, Hyperkalemia OMIM:268200
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Macroglossia, Re... OMIM:617303
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Metabolic alkalosis ORPHA:369929
Cystinosis, Nephropathic
Metabolic acidosis, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolit... OMIM:219800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Lactic acidosis, Hydronephrosis OMIM:618240
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Aminoaciduria, Elevated circulating parathyroid hormone level, Primary hyperpar... OMIM:239200
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
H Syndrome
Histiocytosis, Amenorrhea, Malabsorption, Micropenis, Abnormality of the kidney, Hepatosplenomega... ORPHA:168569
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Renal cortical adenoma, Decreased circulating renin level, Epistaxis, Hypertension, ... ORPHA:231632
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Rhabdoid Tumor
Weight loss, Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thrombocytopenia ORPHA:69077
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... ORPHA:79259
Congenital Generalized Lipodystrophy
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, Cirrhosi... ORPHA:528
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Grow... OMIM:613550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Increased circulating free fatty acid level, Prolonged QT interval, At... ORPHA:26793
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... OMIM:613490
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... ORPHA:848
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... OMIM:618114
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Tachyca... ORPHA:91547
Muscular Dystrophy, Becker Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:300376
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Peripheral arterial stenosis, Abnormal left ventricular function, Transient ischemic attack, Muco... ORPHA:91387
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Hyperxanthinemia, Hypou... ORPHA:3467
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Late-Onset Isolated Acth Deficiency
Failure to thrive, Orthostatic hypotension, Eosinophilia, Normocytic anemia, Hypotension, Macrocy... ORPHA:199299
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, Elevated circulating creatine kinase... OMIM:619040
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Hepatospl... ORPHA:464329
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... ORPHA:731
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Parathyroid Carcinoma
Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Hypercalcemia, Infantile hypercalcemia... ORPHA:143
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Hyperprolinemia, Lacticaciduria, Lactic acidosis, Hyperalaninemia ORPHA:79246
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cryptorchidism, Cholestasis, Hypothyroidism, Elevated cir... OMIM:608104
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Short stature, Abnormal localization of kidney, Hydronephrosis, Intraut... ORPHA:195
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... ORPHA:361
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... ORPHA:99826
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... ORPHA:398124
Mercury Poisoning
Hypokalemia, Tachycardia, Hypotension, Acute kidney injury, Hypertension ORPHA:330021
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Medullary Sponge Kidney
Distal renal tubular acidosis, Nephrolithiasis, Hematuria, Hypercalciuria ORPHA:1309
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Hypercalcemia, Infantile hypercalcemia... ORPHA:99880
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Image Syndrome
Hypospadias, Intrauterine growth retardation, Hydronephrosis ORPHA:85173
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, S... OMIM:603278
Fanconi Renotubular Syndrome 3
Growth delay, Aminoaciduria, Short stature, Metabolic acidosis, Glycosuria, Low-molecular-weight ... OMIM:615605
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Short s... OMIM:202010
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Liddle Syndrome 3
Hypokalemia, Metabolic alkalosis OMIM:618126
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... ORPHA:93110
Glycogen Storage Disease Xi
Increased serum lactate, Increased serum pyruvate, Myoglobinuria, Elevated circulating creatine k... OMIM:612933
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Bone cyst, Hypercalcemia ORPHA:2668
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Hyperphosphatemia, Renal... ORPHA:99845
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... OMIM:606069
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Arrhythmia, Acute kidney injury, Growth d... ORPHA:57
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... ORPHA:542323
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis, Short stature ORPHA:85285
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Left... OMIM:601494
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Amenorrhea, Infertility, Hepatomegaly, Splenomegaly... OMIM:602390
Hydroxykynureninuria
Tachycardia, Renal tubular acidosis, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Infantile Sialic Acid Storage Disease
High palate, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated h... OMIM:269920
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Cryptorchidism OMIM:613861
Hypophosphatasia
Anemia, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis ORPHA:436
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Increased blood urea nitrogen,... OMIM:154230
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Nonprogressive cerebellar ataxia, Dilated cardiomyopathy, Noncompaction car... OMIM:610198
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Citrullinemia, Classic
Oroticaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Hyperglutaminemia... OMIM:215700
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... OMIM:200995
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, L... ORPHA:57777
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged kidney, Insulin-r... ORPHA:90301
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Short stature, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal ins... OMIM:613388
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormality of the lymph nodes OMIM:136580
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Sclerosing cholangitis, Elevated circulating... OMIM:619662
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... OMIM:615573
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Leprechaunism
Severe intrauterine growth retardation, Hypokalemia, Hyperinsulinemia, Hypercalciuria, Long penis... ORPHA:508
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Microscopic hematuria, ... OMIM:274150
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis, Severe short stature, Aminoaciduria OMIM:204730
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... OMIM:614034
Bardet-Biedl Syndrome 17
Renal cyst, Polyuria, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis OMIM:204690
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... ORPHA:470
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Temple Syndrome
High palate, Cleft palate, Maturity-onset diabetes of the young, Bifid uvula, Hypertriglyceridemi... OMIM:616222
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... OMIM:618183
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... ORPHA:93598
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Ethanolaminosis
Cardiomegaly OMIM:227150
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Hypoglycemia, ... ORPHA:230
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria OMIM:239199
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Tachycardia, Hematuria, Hypotension, Atrial fibrillation... ORPHA:31826
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... ORPHA:858
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Decreased plasma carnitin... OMIM:212140
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the k... ORPHA:369
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow p... ORPHA:2849
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Left ventricular hypertrophy, Cerebral ... ORPHA:90065
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... OMIM:214900
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... OMIM:255120
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Episodic ammonia intoxication, Hyperammonemia, Low plasma citrulline, Hyperglutam... OMIM:311250
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... ORPHA:94086
Legionnaires Disease
Arrhythmia, Hematuria, Myocarditis, Hypotension, Proteinuria, Hyponatremia, Renal insufficiency, ... ORPHA:549
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Hypophosphatasia, Infantile
Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Intracranial hemorrhage, Decr... OMIM:241500
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hyperammonemia, Splenomegaly, Hypoglycemia, Pyloric stenosis ORPHA:664
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... ORPHA:188
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Proximal tubulopathy OMIM:560000
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... OMIM:608978
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... ORPHA:91354
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Elevated hepati... ORPHA:263501
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Teratoma, Pineal
Polyuria OMIM:273120
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Pearson Syndrome
Growth delay, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Elevated lactate:pyruvate ratio, Hyp... ORPHA:699
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Hy... OMIM:207900
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia OMIM:612286
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... OMIM:618280
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Fanconi Anemia, Complementation Group O
Renal cyst, Short stature, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Isolated Polycystic Liver Disease
Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Multiple renal cysts, Abnormalit... ORPHA:2924
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Renal tubular acidosis, Hypocalcemia, Metabolic alkalosis, Diabetic ... ORPHA:358
Meningococcal Meningitis
Shock, Elevated circulating C-reactive protein concentration, Renal insufficiency, Hypotension ORPHA:33475
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Enlarge... OMIM:314390
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Short stature, Metabolic acidosis, Glycosuria, Proteinuria, Hype... OMIM:616026
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Familial Renal Glucosuria
Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary tract infecti... ORPHA:69076
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, A... ORPHA:116
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... OMIM:616278
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged k... OMIM:306955
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... OMIM:201475
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum lactate, Increased serum pyruvate, Myoglobinuria, Elevated circulating creatine k... ORPHA:2364
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Cleft palate... OMIM:616730
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Supernumerary nipple, Chronic tubulointerstitial nephritis, Elevated circulating cr... OMIM:614376
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Elevated circulatin... OMIM:616733
Hemoglobin C-Beta-Thalassemia Syndrome