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Gene: Clcnkb MGI:1930643

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Gene Summary

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

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 liver morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
enlarged urinary bladder Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased circulating creatinine level Clcnkbem1(IMPC)Mbp HOM Late adult 3.89×10-14
decreased total body fat amount Clcnkbem1(IMPC)Mbp HOM Early adult 5.50×10-12
increased neutrophil cell number Clcnkbem1(IMPC)Mbp HOM   Early adult 2.63×10-06
increased fasting circulating glucose level Clcnkbem1(IMPC)Mbp HOM Early adult 4.51×10-10
decreased lymphocyte cell number Clcnkbem1(IMPC)Mbp HOM   Early adult 1.57×10-05
abnormal bone structure Clcnkbem1(IMPC)Mbp HOM   Early adult 6.36×10-09
increased blood urea nitrogen level Clcnkbem1(IMPC)Mbp HOM Early adult 1.72×10-24
abnormal skin morphology Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
increased basophil cell number Clcnkbem1(IMPC)Mbp HOM Early adult 3.35×10-05
shortened QRS complex duration Clcnkbem1(IMPC)Mbp HOM Early adult 6.36×10-05
enlarged lymph nodes Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
small testis Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
improved glucose tolerance Clcnkbem1(IMPC)Mbp HOM Early adult 4.29×10-06
abnormal heart shape Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
hypoactivity Clcnkbem1(IMPC)Mbp HOM Early adult 6.94×10-05
enlarged liver Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
increased circulating alkaline phosphatase level Clcnkbem1(IMPC)Mbp HOM Late adult 1.48×10-17
improved glucose tolerance Clcnkbem1(IMPC)Mbp HOM Late adult 1.02×10-17
abnormal skin morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
decreased mean corpuscular volume Clcnkbem1(IMPC)Mbp HOM Late adult 2.42×10-08
increased red blood cell distribution width Clcnkbem1(IMPC)Mbp HOM Early adult 3.37×10-06
enlarged spleen Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
decreased heart weight Clcnkbem1(IMPC)Mbp HOM Early adult 7.04×10-11
abnormal heart morphology Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Clcnkbem1(IMPC)Mbp HOM Early adult 3.25×10-12
increased blood urea nitrogen level Clcnkbem1(IMPC)Mbp HOM Late adult 2.85×10-11
increased circulating creatinine level Clcnkbem1(IMPC)Mbp HOM Early adult 7.08×10-05
increased circulating cholesterol level Clcnkbem1(IMPC)Mbp HOM Late adult 2.06×10-08
decreased mean corpuscular hemoglobin Clcnkbem1(IMPC)Mbp HOM Late adult 3.25×10-07
shortened QT interval Clcnkbem1(IMPC)Mbp HOM   Early adult 7.93×10-06
abnormal spleen morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
small heart Clcnkbem1(IMPC)Mbp HOM Early adult 0.00
small kidney Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Clcnkbem1(IMPC)Mbp HOM Late adult 0.00

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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

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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 associated to Clcnkb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Gitelman Syndrome
Hypocalcemia, Metabolic alkalosis, Hypermagnesemia, Focal segmental glomerulosclerosis, Nocturia,... ORPHA:358

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
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... OMIM:607364
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Growth delay, Hyponatremia, Renal salt wasting... ORPHA:427
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Growth delay, Hyponatremia, ... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Growth delay, Hyponatremia, Increased circulating renin level, Renal salt wasting, D... OMIM:203400
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Diabetes Insipidus, Neurohypophyseal Type
Alkalosis, Hypokalemia, Polyuria, Hydronephrosis OMIM:304900
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Low-to-normal blood pressure, Polyuria, Renal juxtaglomer... OMIM:241200
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Growth de... ORPHA:223
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Metabolic acidosis, Nep... OMIM:602722
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Acidosis, Aminoaciduria, Glycosuria, Hypokalemia, Short stature... OMIM:134600
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemic metabolic alkalosis, Hypocalcemic tetany, Hypercalciuri... ORPHA:73224
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Increased serum prostaglandin E2, Increas... OMIM:241150
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Acute Adrenal Insufficiency
Androgen insufficiency, Renal insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovol... ORPHA:95409
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Isothenuria, Hypokalemia, Short... OMIM:611590
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Hyponatremia, Decreased circulating renin level... OMIM:300539
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Growth delay, Polyur... OMIM:263800
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula... OMIM:612780
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
East Syndrome
Enuresis, Renal salt wasting, Increased circulating renin level, Hyperaldosteronism, Renal sodium... ORPHA:199343
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertension, Abnormality of circulating cortisol level, Hypokalemia, Decrea... ORPHA:320
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Hypochloremic metabolic alkalosis, Chr... OMIM:613845
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypertension, Hypercalciuria, Decreased circulating renin level, Hy... OMIM:613677
Liddle Syndrome
Arrhythmia, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia, Renal insufficiency ORPHA:526
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Infantile hypercalcemia, Neph... OMIM:143880
Liddle Syndrome 1
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Hypokalemic alkalosis, Renal... OMIM:177200
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Lactic acidosis, Ketoacidosis, Increased serum lactate, Respiratory alkalosis, Hy... OMIM:615751
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin leve... OMIM:177735
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Chronic acidosis, G... OMIM:227810
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:289548
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Acidosis, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chr... OMIM:137950
Type 1 Diabetes Mellitus
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary incontinence, Urinary urgency, Hypotension OMIM:156310
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Renal salt wasting, Hyperaldoste... OMIM:264350
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Increased serum lactate, Stage 5 chronic kidney disease OMIM:618250
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Primary amenorrhea, He... OMIM:612526
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype... OMIM:145600
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Helic... ORPHA:275555
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Renal Tubular Acidosis Iii
Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia OMIM:267200
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Hypertensio... OMIM:256100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Ventricular septal hypertrophy, Elevated circulating creat... ORPHA:370
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate, Proteinuria, Nephrotic syndrome OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Elevated circulating creatinine conce... OMIM:174000
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Abnormality of the small intestine, Ma... ORPHA:100025
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Supraventricular arrhythmia, Hypovolemia,... ORPHA:90068
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis, Hypovolemia ORPHA:2290
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Tyrosinemia, Type I
Glomerular sclerosis, Renal insufficiency, Paralytic ileus, Cirrhosis, Enlarged kidney, Hypertyro... OMIM:276700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia... OMIM:214700
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperald... ORPHA:231580
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Growth delay, Foam... ORPHA:567548
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nephrocalcinosis, Hyperphosphatemia ORPHA:428
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Proportionate short stature, Hyponatremia, Increased circulating renin level, Glucoco... ORPHA:171876
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... OMIM:615234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Abno... OMIM:618495
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatos... OMIM:615703
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Anemia, Elevated circulating creatine kinase concentration... ORPHA:264580
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Hypothyroidism, Nephropathy... ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Delayed puberty, Hypokalemia, Short stature, Renal ... ORPHA:213
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helpe... ORPHA:543
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypovolemia, Hypernatriuria, Primary adrenal insufficiency, Adrenal calcifi... ORPHA:275761
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Premature ad... ORPHA:90795
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Addison Disease
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Orthostat... ORPHA:85138
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Isolated Permanent Neonatal Diabetes Mellitus
Hypovolemia, Moderate albuminuria, Ketonuria, Glycosuria, Neonatal insulin-dependent diabetes mel... ORPHA:99885
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Apparent Mineralocorticoid Excess
Growth delay, Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating... OMIM:218030
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Hypertension, Decreased circulating renin ... OMIM:103900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Duplicated collecting system, Postnatal growth retardation, Hydr... OMIM:617093
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Growth delay, Hyperchlorem... ORPHA:411629
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Metabolic alkalosis, Hypokalemia ORPHA:251274
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Glucose intolerance, Elevat... OMIM:235200
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Renal hypophosphatemia, Hypercalcemia, Reduced r... ORPHA:405
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:614582
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arterial hypertension, Ne... OMIM:615474
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly ORPHA:52416
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hydronephrosis OMIM:247990
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Narrow palate, Macrovesicular hepatic steatosis, Cardiomegaly, High pa... OMIM:608836
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Microscopic... ORPHA:54370
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Drug-Induced Lupus Erythematosus
Pericarditis, Increased blood urea nitrogen, Pericardial effusion, Thrombocytopenia, Elevated cir... ORPHA:231111
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Polyuria, Short stature OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Polyuria, Short stature, Diabetes insipidus OMIM:304800
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Metabolic alkalosis, Increased serum lactate,... OMIM:616239
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Hypokalemia, Renal insufficiency, Nephrolithiasis OMIM:617671
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... OMIM:161900
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Severe short stature, Elevated circulating creatinine conce... OMIM:242530
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria ORPHA:2613
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypoplasia of ... ORPHA:181393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatomegaly, ... OMIM:615895
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
H Syndrome
Abnormality of the kidney, Azoospermia, Microcytic anemia, Enlarged kidney, Amenorrhea, Histiocyt... ORPHA:168569
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Macroves... OMIM:617303
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated hepatic transaminase, Elevat... OMIM:614817
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Amenorrhea, ... ORPHA:528
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Hydronephrosis, Hydroureter OMIM:618240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Calcinosis, Hyperca... OMIM:239200
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circula... ORPHA:231632
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232220
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Lactic acidosis, Hyponatremia,... ORPHA:173
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Snakebite Envenomation
Cardiogenic shock, Acute kidney injury, Intracranial hemorrhage, Hypotension, Hyponatremia, Epist... ORPHA:449285
Pituitary Adenoma 4, Acth-Secreting
Alkalosis, Hypokalemia, Nephrolithiasis OMIM:219090
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Paten... OMIM:601005
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Metabolic alkalosis, Hypokalemia, Nephrolithiasis ORPHA:369929
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Thyroiditis, Hyperuricemia, Delayed puberty, Anemia, Hyperlipi... ORPHA:79259
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... ORPHA:340
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tu... OMIM:613550
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232200
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Colitis, Thrombocytopenia, Hypert... OMIM:613101
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Metabolic acidosis, Dicarboxylic aciduria OMIM:615026
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Elevated circulating creatinine concentration, Impaired glucose tolerance... OMIM:137920
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Retinitis Pigmentosa 59
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Image Syndrome
Intrauterine growth retardation, Hypospadias, Hydronephrosis ORPHA:85173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Normochromic microc... OMIM:610198
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachn... ORPHA:91387
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Azoospermia, Dilated cardio... OMIM:602390
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Lactic acidosis, Increased serum lactate, Hyperalaninemia, Hyperprolinemia ORPHA:79246
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Myofibrillar Myopathy 10
Flexion contracture of finger, Ankle flexion contracture, Increased circulating troponin I concen... OMIM:619040
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Elevated hepatic iron concentrat... ORPHA:231222
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Hypotension, Ventricular tachycardia, Elevated creatine k... ORPHA:159
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Short stature, Renal cyst OMIM:613390
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Short stature, Intrauterine growth retardation, ... ORPHA:195
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated hepatic transaminase, Abnormal testis morphology, Liver absce... ORPHA:54251
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Mercury Poisoning
Acute kidney injury, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... ORPHA:90301
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis OMIM:278300
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Hsd10 Disease, Neonatal Type
Lactic acidosis, Abnormal concentration of acylcarnitine in the urine, Metabolic acidosis ORPHA:391457
Liddle Syndrome 3
Metabolic alkalosis, Hypokalemia OMIM:618126
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Urinary bladde... ORPHA:449395
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Hypotension, Elevated circulating crea... ORPHA:91547
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Overweight, Pericardial effusion, Small for gestational age, Elevated circulating c... ORPHA:26793
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic colon, Hypoplasia of the small ... OMIM:200995
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis, Short stature ORPHA:85285
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Acute kidney injury, Growth delay, Elevated creatine kinase after exercise, Myoglobin... ORPHA:57
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Postnatal growth ... ORPHA:93110
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Glycogen Storage Disease Xi
Increased serum pyruvate, Increased serum lactate, Myoglobinuria, Elevated circulating creatine k... OMIM:612933
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Hepatomegaly, Abnormality of ... ORPHA:417
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly, ... OMIM:269920
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature, Acidosis OMIM:204730
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Aminoaciduria, Glycosuria, Short stature, Metabolic acidosis, Pr... OMIM:615605
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Hydroxykynureninuria
Renal tubular acidosis, Hypotension, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Sh... OMIM:613388
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Malabsorption ORPHA:172
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia, Pyloric stenosis ORPHA:664
Renal Tubular Dysgenesis
Anuria, Hypotension, Abnormality of the urinary system, Renotubular dysgenesis OMIM:267430
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis ORPHA:2197
Leprechaunism
Long penis, Hyperinsulinemia, Enlarged kidney, Central hypothyroidism, Postnatal growth retardati... ORPHA:508
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Arrhythmia, Abnormality of iron homeostasis, Decreas... ORPHA:231226
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Hy... ORPHA:369
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocard... ORPHA:90065
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Atherosclerosis,... ORPHA:93598
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neona... ORPHA:71212
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Ethanolaminosis
Cardiomegaly OMIM:227150
Citrullinemia, Classic
Hypoargininemia, Hyperglutaminemia, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Episod... OMIM:215700
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroel... OMIM:212140
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Renal t... OMIM:255120
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Elevated circulating cre... ORPHA:542323
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Abnormal circulating dehydroe... ORPHA:1501
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, High palate, Hypertri... OMIM:616222
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Elevated circulating creatinine concentration, Recurrent u... OMIM:613095
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Albuminuria, Hyper... OMIM:230400
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Adrenal hypoplasia, Postnatal growth retardation, Hypercalciuria, Hypercalcemia, Intrauterine gro... OMIM:614732
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Sple... ORPHA:75563
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Nephroblastoma, Hypoplasia of penis, Abnormal pan... ORPHA:2849
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cardiomegaly, Elevated transferrin saturation, Card... ORPHA:465508
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosi... ORPHA:31826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Renal insufficie... ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Inflammation of the large intesti... OMIM:300635
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Primary Parathyroid Hyperplasia
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Shortened QT interval, Hypercalcemia ORPHA:99878
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive heart fai... ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardio... OMIM:617713
Immunodeficiency 40
Lymphopenia OMIM:616433
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li... ORPHA:1414
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Acute kidney injury, Hypotension, Hypernatremia, Hyponatremia, Hyperuri... ORPHA:94093
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hypothyroidism, Polyuria, Hyponatremia, Renal dysplasia, Hypertriglyc... OMIM:618183
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Anal atresia, Hydronephrosis, Atrioventricular canal defect, T... OMIM:314390
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Oliguria, Myocarditis, R... ORPHA:188
Legionnaires Disease
Arrhythmia, Hematuria, Pericarditis, Hypotension, Hyponatremia, Myocarditis, Renal insufficiency,... ORPHA:549
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Large intestinal... ORPHA:116
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis OMIM:612286
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone... ORPHA:91354
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Diabetes mellitus, Polyuria OMIM:560000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, T... ORPHA:263501
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Lacticaciduria, Lactic acidosis, Growth delay, Increased serum la... ORPHA:699
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Weight loss, Hypercalce... ORPHA:143
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Teratoma, Pineal
Polyuria OMIM:273120
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, High palate OMIM:614882
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonk... OMIM:201475
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... OMIM:616730
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Increased serum lactate, Myoglobinuria, Elevated circulating creatine k... ORPHA:2364
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Increased... ORPHA:49041
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular h... OMIM:600649
Cystinosis, Nephropathic
Decreased plasma carnitine, Generalized aminoaciduria, Hypophosphatemic rickets, Growth delay, Po... OMIM:219800
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Gitelman Syndrome
Hypocalcemia, Metabolic alkalosis, Hypermagnesemia, Focal segmental glomerulosclerosis, Nocturia,... ORPHA:358
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Respiratory alkalosis, Oroticaciduria, Hyperam... OMIM:207900
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Hypertension, Stage 5 chronic kidney d... OMIM:618061
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Meningococcal Meningitis
Hypotension, Renal insufficiency, Elevated circulating C-reactive protein concentration, Shock ORPHA:33475
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Weight los... ORPHA:98849
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Renal cortical cysts, Neonatal hypoglycemia, Enlarged kidney, Gonad... OMIM:130650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Atrial septal defect, Patent foramen ovale, Recurrent gastroenteritis, Enlarged kid... ORPHA:505248
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium mo... ORPHA:563
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Chondrocalcinosis, Shortened QT interval, Hypercalcemia, Infantil... ORPHA:99880
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Pparg-Related Familial Partial Lipodystrophy