Gene Summary

Name:
solute carrier family 12, member 1
Synonyms:
urehr3,  mBSC1,  D630042G03Rik,  Nkcc2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Slc12a1urehr3 HOM Early adult 8.41×10-33
increased circulating creatinine level Slc12a1urehr3 HOM Early adult 2.21×10-08
decreased body weight Slc12a1urehr3 HOM Early adult 8.05×10-06
increased circulating calcium level Slc12a1urehr3 HOM Early adult 1.40×10-07
decreased hemoglobin content Slc12a1urehr3 HOM Early adult 4.36×10-05
increased circulating amylase level Slc12a1urehr3 HOM Early adult 1.90×10-09
decreased circulating chloride level Slc12a1urehr3 HOM Early adult 1.43×10-11
decreased hematocrit Slc12a1urehr3 HOM Early adult 9.19×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc12a1 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 Slc12a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678

The table below shows human diseases predicted to be associated to Slc12a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... OMIM:601678
Bartter Syndrome Type 4
Renal salt wasting, Nephrocalcinosis, Increased circulating renin level, Hyponatremia, Impaired r... ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir... OMIM:241200
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... ORPHA:320
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... OMIM:143880
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... OMIM:601198
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... OMIM:222100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypokalemic metabolic alkalosis, Sudden cardiac death, Abnormal renal tubular resorption, Congest... ORPHA:73224
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... OMIM:613090
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta... OMIM:613845
Distal Renal Tubular Acidosis
Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo... ORPHA:18
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ... OMIM:177200
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate... OMIM:300555
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... ORPHA:99879
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Hypercalcemia, Parathormone-independent increased renal tubula... OMIM:600740
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular ... OMIM:602722
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Hyp... OMIM:613677
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... OMIM:610600
Autosomal Dominant Hypocalcemia
Eczema, Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis,... ORPHA:428
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Me... ORPHA:231625
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca... OMIM:613388
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p... ORPHA:157215
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... OMIM:602522
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Metabolic acidosis, Renal co... OMIM:611555
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... OMIM:239199
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le... OMIM:615751
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst ORPHA:2668
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, D... OMIM:203400
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Parathormone-independent in... ORPHA:405
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:614732
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... OMIM:607364
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... OMIM:300009
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... OMIM:612286
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... ORPHA:94080
East Syndrome
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald... ORPHA:199343
Gitelman Syndrome
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Hypomagnesemia, ... OMIM:263800
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab... OMIM:241530
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556037
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Hypertension, Internal hemorrhage ORPHA:69077
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556030
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr... ORPHA:90795
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Rickets, Hypercalciuria, ... ORPHA:2088
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... OMIM:179800
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Large for gestational age, Ricke... OMIM:616026
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Metabolic alkalosis, Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular b... OMIM:615474
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale... ORPHA:427
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp... OMIM:241500
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... OMIM:612780
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Metabolic acid... OMIM:611590
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fanconi-Bickel Syndrome
Chronic acidosis, Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Acidosis, Keton... OMIM:227810
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma OMIM:617343
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypertensi... ORPHA:231632
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus,... OMIM:613404
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... OMIM:617671
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Macroscop... ORPHA:251004
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Decreased urinary p... ORPHA:95409
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchloremic metabo... ORPHA:3337
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Primary hyperparathy... OMIM:239200
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Funct... ORPHA:223
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat... ORPHA:90794
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener... ORPHA:416
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Lactic acidosis, Hypogonadism, Hypocalcemia, Failure to thrive ORPHA:163693
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Osteoporosis, Nephrolithiasis, Increased circulating ACTH level, Obesity, Alka... OMIM:219090
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia OMIM:304800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Hyperphosphaturia, Hip contracture, Hypercalcemia, Hypercalciuria... OMIM:156400
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Hematuria, Hypernatremia ORPHA:35710
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet... ORPHA:97289
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ... ORPHA:469
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Small for gestational age, Elbow flexion contracture, Hypercalciur... OMIM:618440
Adamantinoma
Hypercalcemia ORPHA:55881
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Increased serum lact... OMIM:615158
Apparent Mineralocorticoid Excess
Small for gestational age, Metabolic alkalosis, Hypertension, Hypokalemia, Failure to thrive, Dec... OMIM:218030
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El... OMIM:612089
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:85138
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena... OMIM:145001
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... ORPHA:54057
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... ORPHA:47159
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabe... OMIM:208085
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne, Periosteal thickening of lo... OMIM:167100
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... ORPHA:411543
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Congestive ... ORPHA:31824
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... OMIM:214700
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Nocturia, Anorexia ORPHA:178029
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P... ORPHA:29072
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... OMIM:146200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Renal Tubular Acidosis Iii
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... OMIM:267200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin... OMIM:264350
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... ORPHA:94093
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Abnormal circulating renin, Nephrolithiasis,... ORPHA:369929
Parathyroid Carcinoma
Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Primary hyperparathyr... ORPHA:143
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Pulmonic stenosis OMIM:613312
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... OMIM:137950
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... OMIM:617872
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede... OMIM:256300
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ... OMIM:603358
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser... OMIM:619743
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Pseudo... OMIM:614492
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Lactic acidosis, Focal segmenta... OMIM:232200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... ORPHA:90791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... OMIM:617056
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:600995
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Hyper-Beta-Alaninemia
Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia OMIM:237400
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Metabolic acidosis, Am... OMIM:615605
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w... OMIM:604278
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... ORPHA:168558
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, H... ORPHA:3008
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... OMIM:177735
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Primary hyperparathyr... ORPHA:99880
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid... ORPHA:49041
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetali... OMIM:619003
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Iminoglycinuria
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria ORPHA:42062
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Increas... OMIM:274150
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia, Metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Glyoxalase... OMIM:231900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ... OMIM:606407
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Osteopenia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalem... OMIM:617913
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Joint hypermobility, Reduced circulating prolactin ... OMIM:223360
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Short st... ORPHA:1667
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria OMIM:239510
Citrullinemia, Classic
Failure to thrive, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia int... OMIM:215700
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Lactic acidosis, Focal segmenta... OMIM:232220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur... OMIM:615398
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Hypo... OMIM:276700
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Saccharopinuria
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... OMIM:268700
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... ORPHA:3467
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib... ORPHA:439232
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Anemia ORPHA:436
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial m... OMIM:602114
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... OMIM:614473
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hand-Foot-Genital Syndrome
Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Pyelonephritis, Chordee, De... OMIM:140000
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydroneph... OMIM:615926
Nephrotic Syndrome, Type 9
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum... OMIM:615573
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat... ORPHA:94090
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutami... OMIM:311250
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... OMIM:616733
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... OMIM:239500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate aminotransferase co... OMIM:619048
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Joint laxity, Congestive heart failure, Nephrocalcinosis, Failure to thrive, Diabetes insipidus ORPHA:500533
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... OMIM:612462
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Genetic Recurrent Myoglobinuria
Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Galactosemia Iii
Failure to thrive, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Abnormality of bone mineral... ORPHA:3156
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... OMIM:202010
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... OMIM:618183
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... OMIM:222748
Hardikar Syndrome
Hypoplasia of the bladder, Decreased serum insulin-like growth factor 1, Renal insufficiency, Rec... OMIM:301068
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive OMIM:236795
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos... OMIM:612075
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine, Abnorm... ORPHA:391457
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Argininosuccinic Aciduria
Failure to thrive, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia int... OMIM:207900
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... ORPHA:653
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Increased serum la... OMIM:617021
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Podagra, Testicular atrophy OMIM:300322
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, ... OMIM:232240
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated lactate:pyruvate ratio, Acute hepatic failure, Elevated hepatic transaminase, Ketonuria,... OMIM:615453
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri... OMIM:277900
Galactosemia I
Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:230400
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Hypoalbuminemi... ORPHA:84090
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Osteoporosis, Osteolysis, Weight loss, Nephropathy ORPHA:100024
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy... ORPHA:36913
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Hepatic fail... OMIM:557000
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Hyperinsulinemia, Elevate... ORPHA:230
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Lactic acidosis, Inflammation of the large intestine, Periodontitis... ORPHA:79259
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... OMIM:229600
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Glycogen Storage Disease Xi
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... OMIM:612933
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614496
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... OMIM:616239
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... OMIM:620366
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... OMIM:610725
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Metabolic acidosis, Ethyl... ORPHA:26792
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Met... ORPHA:445038
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h... OMIM:614034
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Hypertryptophanemia
Camptodactyly of finger, Hypertryptophanemia, Generalized joint laxity, Tryptophanuria, Increased... OMIM:600627
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia ORPHA:79246
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... OMIM:618061
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Metabolic alkalo... ORPHA:786
Valinemia
Hypervalinemia, Valinuria, Failure to thrive OMIM:277100
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Scorpion Envenomation
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Promin... ORPHA:466677
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrosialidosis
Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropath... OMIM:256150
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... OMIM:145600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Ketoacidosis, Hy... OMIM:618120
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Joint laxity, Diabetes insipidus, Slender build OMIM:611087
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Renal insufficiency, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia, Elevated circulating acylcarnitine concentration, Lactic aci... OMIM:615026
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria ORPHA:2613
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Generalized aminoaciduria OMIM:606528
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... OMIM:191800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p... OMIM:619351
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Atypical Hemolytic Uremic Syndrome
Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:2134
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... ORPHA:93111
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce... ORPHA:417
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity OMIM:615633
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I... OMIM:614582
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency, Hyperammonemia, Dehydration ORPHA:28
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, R... OMIM:615993
Hereditary Coproporphyria
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... ORPHA:79273
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Acidosis, Abnormal blood ion concentr... ORPHA:173
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614495
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, ... ORPHA:199299
Listeriosis
Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Myocarditis, Peritonitis, Congestive... ORPHA:533
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... ORPHA:324525
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, Thrombocyto... OMIM:606054
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu... ORPHA:85285
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:6
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Increased bone mineral density, Decreased response to growth h... ORPHA:94089
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Camptodactyly 1
Increased urinary taurine, Camptodactyly of finger OMIM:114200
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ... OMIM:146255
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur... ORPHA:289504
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia, Increased serum lactate, Lactic acidosis, Organic aciduria OMIM:614741
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic ... ORPHA:404
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... OMIM:264700
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Nephrolithiasis, H... ORPHA:93160
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Increased serum lactate, H... OMIM:615160
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria OMIM:309930
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis, Osteoporosis OMIM:204730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Gout, Hyperuricosuria,... OMIM:300661
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Failure to thrive, Hypocalcemia ORPHA:172
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,... ORPHA:1909
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Respiratory alkalosis, Hepatitis, Hyperammonemia, Hyperornithinemia, Oroticaci... ORPHA:415
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Increased hematocrit, Ascites, Polycyth... ORPHA:284227
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... OMIM:620300
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congesti... ORPHA:90349
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... ORPHA:534
Lipoyltransferase 1 Deficiency
Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a... OMIM:616299
Pearson Syndrome
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... ORPHA:699
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... ORPHA:247353
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... ORPHA:508
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Nephronophthisis 9