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Gene: Cldn4 MGI:1313314

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
claudin 4
Synonyms:
Cpetr,  Cpetr1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cldn4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cldn4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Hypercalcemia, Infantile, 2
Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Hypercalcemia, Infantile, 1
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria OMIM:145980
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia OMIM:614732
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... ORPHA:157215
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal tubula... OMIM:241530
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... ORPHA:73224
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Hypouricemia, Proteinuria, Chronic kidney disease, Elevated ci... ORPHA:411634
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria OMIM:606407
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia OMIM:156400
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia OMIM:618440
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:36913
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria ORPHA:251274
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... OMIM:612780
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi... OMIM:612462
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... ORPHA:2237
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... OMIM:239000
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hyponatremia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Hypocal... OMIM:617913
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... ORPHA:199343
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypokalemic Tubulopathy And Deafness
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
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia ORPHA:69077
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... ORPHA:247353
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... OMIM:277900
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo... OMIM:263800
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94089
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of... ORPHA:369837
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:264350
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... OMIM:162000
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia OMIM:235255
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... ORPHA:653
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616026
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Adamantinoma
Hypercalcemia ORPHA:55881
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... ORPHA:251004
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level ORPHA:556037
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Webb-Dattani Syndrome
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis OMIM:615926
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype... OMIM:557000
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypospadias, Hypocalcemia OMIM:607143
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... ORPHA:534
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:103580
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:79444
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level ORPHA:556030
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tubulointerstiti... ORPHA:358
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous ne... ORPHA:37042
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Hyperuricemia, Hprt-Related
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosphate wasting, H... OMIM:307800
Leprechaunism
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl... ORPHA:508
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Timothy Syndrome
Hypocalcemia OMIM:601005
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia ORPHA:97289
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia... ORPHA:2785
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Pearson Syndrome
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophosphatemia, H... ORPHA:699
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis ORPHA:163979
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:79443
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... ORPHA:116
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... ORPHA:29073
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Cystinuria
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis ORPHA:214
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney ORPHA:2591
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... OMIM:617093
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... ORPHA:95409
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Igg4-Related Aortitis
Hydronephrosis, Elevated circulating C-reactive protein concentration ORPHA:449400
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... OMIM:614227
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology... OMIM:194050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Ve... OMIM:301056
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231580
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... ORPHA:449395
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Decreased serum zinc, Hydronephrosis ORPHA:541423
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Hennekam Syndrome
Hypocalcemia, Horseshoe kidney, Ectopic kidney ORPHA:2136
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Hypercalcemia, Elev... ORPHA:904
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased urinary potassium ORPHA:231625
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Sarcoidosis
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointe... ORPHA:797
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Hypocalcemia ORPHA:175
Cystic Fibrosis
Hypercalciuria OMIM:219700
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Multiple Endocrine Neoplasia Type 1
Nephrolithiasis, Hypercalcemia, Hypercalciuria ORPHA:652
Johanson-Blizzard Syndrome
Hypoproteinemia, Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:2315
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia ORPHA:89936
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuria ORPHA:361
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... OMIM:614080
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis OMIM:611209
Hypophosphatasia
Hypercalcemia ORPHA:436
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Cystinosis, Nephropathic
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... OMIM:219800
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P... ORPHA:90791
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Sarcoidosis, Susceptibility To, 1
Hypercalciuria OMIM:181000
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis ORPHA:666
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... ORPHA:90795
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycystic kidney dysplasia, V... ORPHA:567
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Monosomy 13Q34
Fetal pyelectasis, Hypercalcemia ORPHA:96168
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis OMIM:235510
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Addison Disease
Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Incre... ORPHA:85138
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty acid concentration... OMIM:214100
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence ORPHA:476126
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Chondrodysplasia Punctata 2, X-Linked Dominant
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis OMIM:302960
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Hydronephrosis OMIM:188400
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder, Elevated circulating creatine kinase concentration OMIM:608779
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis OMIM:601186
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:168558
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:250989
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:289548
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria ORPHA:35687
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Elevated circulating creatine kinase concentration OMIM:614921
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Raine Syndrome
Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... OMIM:304150
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis ORPHA:847
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis OMIM:301040
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Recurrent urinary tract infections ORPHA:83471
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... ORPHA:275761
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hypophosphatemia ORPHA:562
Gaisböck Syndrome
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... ORPHA:90041
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Urinary urgency, Hypocalcemia, Hypomagnesemia, Micropenis, Pelvic kidney OMIM:619503
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Hydronephrosis OMIM:214800
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Johanson-Blizzard Syndrome
Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conjugated hyperbi... OMIM:243800
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Opitz Gbbb Syndrome
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis ORPHA:2745
Cousin Syndrome
Hydronephrosis OMIM:260660
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Tarp Syndrome
Hydronephrosis, Horseshoe kidney ORPHA:2886
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia ORPHA:913
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis OMIM:269150
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia ORPHA:276152
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... OMIM:615287
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula OMIM:612541
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Dubowitz Syndrome
Hypospadias, Hydronephrosis ORPHA:235
Apert Syndrome
Hydronephrosis OMIM:101200
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... ORPHA:90794
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis OMIM:280000
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... ORPHA:363958
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis OMIM:265380
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... ORPHA:353281
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Decreased serum iron ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... OMIM:619534
Charge Syndrome
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney ORPHA:138
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Campomelic Dysplasia
Hypospadias, Hydronephrosis OMIM:114290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis ORPHA:83617
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract ORPHA:2273
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353277
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Rubinstein-Taybi Syndrome 1
Hypospadias, Hydronephrosis OMIM:180849
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Wide penis, Vesicoureteral... ORPHA:3455
Ppoma
Hypercalcemia ORPHA:97278
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis OMIM:236680
Somatostatinoma
Hypercalcemia ORPHA:97283
Grfoma
Hypercalcemia ORPHA:97261
Glucagonoma
Hypercalcemia ORPHA:97280
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia ORPHA:480880
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... ORPHA:261552
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic... ORPHA:51608
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Viss Syndrome
Hydronephrosis OMIM:619472

Histopathology

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

There is no histopathology data for Cldn4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cldn4.

No publications found that use IMPC mice or data for Cldn4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cldn4tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cldn4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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