Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transcription factor CP2-like 1
Synonyms:
Tcfcp2l1,  Cp2l1,  D930018N21Rik,  4932442M07Rik,  Crtr-1,  LBP-9,  1810030F05Rik

IMPC Data Collections

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

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.

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 Tfcp2l1 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 Tfcp2l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Lessel-Kubisch Syndrome
Narrow nasal bridge, Renal insufficiency, Short stature, Renal hypoplasia, Narrow mouth OMIM:618681
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... OMIM:601678
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Thick vermilion border, Narr... OMIM:617564
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary n... OMIM:143880
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Short stature, Rhizomelia, Unilateral renal agenesis, Depressed nasal bridge, Chronic kidney dise... OMIM:617661
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ... OMIM:241200
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Burn-Mckeown Syndrome
Short stature, Choanal atresia, Unilateral renal agenesis, Cleft upper lip, Prominent nasal bridg... OMIM:608572
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Bifid nasal tip, Depressed nasal ridge,... OMIM:616854
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, ... ORPHA:85284
Hadziselimovic Syndrome
Short stature, Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Renal hypopla... OMIM:612946
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, R... OMIM:614376
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Hyperkalemia, O... ORPHA:97362
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hype... OMIM:617671
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Verheij Syndrome
Thin upper lip vermilion, Renal agenesis, Short stature, Anteverted nares, Broad nasal tip, Renal... OMIM:615583
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Renal hypo... ORPHA:171839
Split-Hand/Foot Malformation 3
High palate, Renal hypoplasia, Cleft palate, Narrow mouth OMIM:246560
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... OMIM:266810
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Short stature, Abnormality of the dentition, Cryptorchi... ORPHA:85321
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Short stature, Prominent nasal bridge, Cryptorchidism, Renal hy... ORPHA:1307
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Renal amyloidosis, Abn... ORPHA:314652
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Short stature ORPHA:31
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Prominent nasal bridge, Lacticaciduria, Renal hypoplasia, Wide mouth, Aminoaciduria, 3-Methylglut... OMIM:604273
Orofaciodigital Syndrome Xvii
Median cleft lip, Short stature, Prominent nose, High, narrow palate, Renal hypoplasia, Micropenis OMIM:617926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cyst, Ureteral agenes... OMIM:236500
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Hyposmia, Renal hypoplasia OMIM:615996
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Megacystis, Vomiting, Constipation, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Vomiting, Constipation, Hypernatremia OMIM:304800
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Distal Duplication 6P
Short stature, Prominent nasal bridge, Renal hypoplasia, Thin vermilion border, Abnormality of th... ORPHA:1745
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Anteverted nares, Depressed nasal bridge, Abnormality of the anterior pituitary, R... ORPHA:75389
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Overhanging nasal tip, Unilateral renal agenesis, High, narrow palate, ... OMIM:618494
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Neoplasm of the n... ORPHA:2869
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Cryptorchidism, Depressed nasal ridge, Pseudohypoparathyroidism, Renal hypoplas... ORPHA:464288
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... OMIM:308990
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Cryptorchidism, Renal hypoplasia, Downturned corners of mouth, Growth delay, Oligo... OMIM:616817
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Renal hypoplasia ORPHA:2256
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... OMIM:239200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalci... OMIM:612780
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
12Q14 Microdeletion Syndrome
Wide nose, Short stature, Intestinal malrotation, Prominent nasal bridge, Ectopic kidney, Abnorma... ORPHA:94063
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Meckel Syndrome 12
Anteverted nares, Ureteral hypoplasia, Renal hypoplasia, Wide nasal bridge, Bilateral renal agene... OMIM:616258
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux... OMIM:613735
Rauch-Steindl Syndrome
Short stature, Depressed nasal bridge, Postnatal growth retardation, Bilateral renal hypoplasia, ... OMIM:619695
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Unilateral renal hypo... OMIM:619955
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Intrauteri... OMIM:617784
Chromosome 4Q21 Deletion Syndrome
Severe short stature, Postnatal growth retardation, Narrow mouth, Downturned corners of mouth, Sh... OMIM:613509
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Anteverted nares, Unilateral renal... OMIM:617641
Marden-Walker Syndrome
Hypospadias, Anteverted nares, Postnatal growth retardation, High, narrow palate, Cryptorchidism,... OMIM:248700
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Tongue fas... OMIM:614922
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Renal agenesis, Ectopic kidney, Renal hypoplasia, Hypodontia, ... OMIM:212780
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, Hypocalciuria, Increased ... OMIM:263800
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Bardet-Biedl Syndrome 17
Polyuria, Anosmia, Stage 5 chronic kidney disease, Renal cyst, Hyposmia, Micropenis OMIM:615994
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, High palate, Renal hypoplasia OMIM:619053
Emanuel Syndrome
Recurrent urinary tract infections, Dental crowding, Intestinal malrotation, Unilateral renal age... OMIM:609029
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Postnatal growth retardation, Thick lower lip vermilion, Thick upper lip vermilion OMIM:309545
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi... OMIM:611376
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Isolated Atp Synthase Deficiency
Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Hy... ORPHA:254913
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Growth delay... OMIM:617595
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... OMIM:120330
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... ORPHA:2470
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Cryp... OMIM:616541
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Proximal tubulopathy, Vomiting, Polyuria OMIM:560000
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Renal salt wasting OMIM:201710
Cach Syndrome
Nonketotic hyperglycinemia, Renal hypoplasia, Growth delay, Vomiting, Dysphagia, Intrauterine gro... ORPHA:135
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Emanuel Syndrome
Delayed eruption of teeth, Dental crowding, Unilateral renal agenesis, Cryptorchidism, Submucous ... ORPHA:96170
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Prostatitis, Xerostomia, Enlarged lacrimal glands... ORPHA:449432
Al Amyloidosis
Gastrointestinal hemorrhage, Renal insufficiency, Increased circulating NT-proBNP concentration, ... ORPHA:85443
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Hypercalcemia, Depressed nasa... OMIM:614732
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Recurrent upper respiratory tract i... OMIM:618183
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ... OMIM:609053
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Hypospadias, Short stature, Short uvula, Renal hypoplasia, Renal cyst, Ag... OMIM:614091
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Anal atresia OMIM:276950
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Broad nasal tip, Bifid nasal tip, Renal hypopl... OMIM:619758
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Dysphagia, Nephrocalcinosis, Growth delay, Aminoacidu... OMIM:617913
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short stature, Persistenc... ORPHA:37553
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple g... OMIM:175200
Pai Syndrome
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Short philtrum, Microphallus, Vesicoureteral reflux, Short stature, Anteverted nares,... OMIM:618454
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... OMIM:300555
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Fraser Syndrome 2
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... OMIM:617666
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... OMIM:122470
Arima Syndrome
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Wide mouth, G... OMIM:243910
Teratoma, Pineal
Polyuria OMIM:273120
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Median cleft lip, High palate, Bifid uvula OMIM:155145
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Adams-Oliver Syndrome 6
Esophageal varix, Renal hypoplasia OMIM:616589
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Submucous cleft hard palate, Renal hypoplasia, Vesicoureteral reflux, Bifid uvula OMIM:617660
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom... OMIM:239199
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Short stature, Unilateral renal agenesis, Postnatal growth retardation,... OMIM:619504
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Hashimoto th... ORPHA:49041
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Nasal polyposis, Malabs... ORPHA:183
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Zttk Syndrome
Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Abnormality of the dentit... OMIM:617140
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Cryptorchidism, Cleft lip, Renal hy... OMIM:616300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypop... OMIM:603467
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Renal hypoplasia, Horsesh... OMIM:601186
Kinsship Syndrome
Thin upper lip vermilion, Short stature, Bulbous nose, Thick lower lip vermilion, Renal hypoplasi... OMIM:619297
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... ORPHA:99879
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Hypospadias, Depressed nasal bridge, Cryptorchid... OMIM:615546
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Bilateral renal hypoplasia, Wide... OMIM:243605
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... OMIM:614527
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Vomiting, Distal renal tubular acidosis OMIM:602722
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Hypospadias, Dental malocclusion, Renal hypoplas... OMIM:601390
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
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Hypospadias, Short stature, Bilateral choanal atresia/stenosi... ORPHA:314679
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Ulnar-Mammary Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Pyloric stenosis, Renal hypoplasia, Ectopic a... ORPHA:3138
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Duane-Radial Ray Syndrome
Renal malrotation, Anal stenosis, Abnormal nasopharynx morphology, Renal agenesis, Aganglionic me... OMIM:607323
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Hypocalcemia, Autosomal Dominant 1
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... OMIM:601198
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Short stature, Renal hypoplasia, Renal cyst, Dy... OMIM:618460
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... OMIM:203400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Renal hypoplasia, Cleft... OMIM:614083
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Convex nasal ridge, Short nose, Renal h... OMIM:619321
Congenital Myopathy 17
Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Cleft palate, High palate, Lon... OMIM:618975
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Apparent Mineralocorticoid Excess
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... ORPHA:320
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormone stimulat... OMIM:606407
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... OMIM:610600
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... OMIM:613388
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... OMIM:180860
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Renal hypoplasia, Lob... OMIM:269860
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi... ORPHA:556037
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Renal hypoplasia, Wide nasal bridge, Bloody diarrhea, ... ORPHA:84064
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Short stature, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, M... OMIM:613312
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Abnormality of the dentition, Renal phosphate wasting, Hypophosphatemia, Hypophosp... OMIM:193100
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Dental crowding, Short stature, Anteverted nares, Depressed n... OMIM:617157
Phakomatosis Pigmentokeratotica
Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hyperhidrosis, Ph... ORPHA:2874
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Penile Agenesis
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Feta... ORPHA:49
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Depressed nasal bridge, Long nose, Multiple s... OMIM:118450
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting OMIM:201910
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Anteverted nares, Unilateral renal agenesis, Depressed nasal ... OMIM:181270
Pseudotrisomy 13 Syndrome
Renal agenesis, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Micropenis, Anal atresia, Medi... OMIM:264480
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Depressed nasal bridge, Cryptorchidism, Renal hypoplasia, Depressed nasal tip, Severe postnatal g... OMIM:620005
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Enlarged polycystic ovar... ORPHA:2298
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiting, Pseudohyp... OMIM:264350
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vomiting, Gast... OMIM:309580
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Tubulointerstiti... ORPHA:79078
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi... ORPHA:556030
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... OMIM:145980
Smith-Lemli-Opitz Syndrome
Dental crowding, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterole... OMIM:270400
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Choanal atresia, Abnormality of the dentition, Carious teeth, ... ORPHA:2363
Cockayne Syndrome
Urinary incontinence, Gastroesophageal reflux, Abnormal dental morphology, Cryptorchidism, Renal ... ORPHA:191
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... OMIM:619950
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... OMIM:615605
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Hypercalcemi... OMIM:145981
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Steatorrhea, P... OMIM:219700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
22Q11.2 Deletion Syndrome
Short philtrum, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Vesicoureteral r... ORPHA:567
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retardation, Unilater... ORPHA:90324
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, Elevated circu... OMIM:620366
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Ena... ORPHA:47159
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Muir-Torre Syndrome
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer ORPHA:587
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormone stimulatio... OMIM:241410
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Chronic rhinitis OMIM:617092
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Marcus-Gunn Syndrome
Choanal atresia, Postnatal growth retardation, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal... ORPHA:91412
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale... OMIM:614736
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:608647
Cholera
Hyponatremia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentration, Hypokal... ORPHA:173
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, Ur... ORPHA:2729
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Short stature, Abnormal dental e... ORPHA:2323
Williams-Beuren Syndrome
Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Microdontia, M... OMIM:194050
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... OMIM:300554
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration... ORPHA:157215
Degcags Syndrome
Oral-pharyngeal dysphagia, Prominent nose, Bilateral renal hypoplasia, High palate, Gastroesophag... OMIM:619488
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... ORPHA:427
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Renpenning Syndrome 1
Thin upper lip vermilion, Hypospadias, Macrodontia, Short stature, Phimosis, Bulbous nose, Renal ... OMIM:309500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Malabsorption, Carious teeth, Xerostomia, Oliguria, Gastroesophageal reflux,... ORPHA:220393
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Fraser Syndrome 1
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Hypospadias, Dental crowding, Dep... OMIM:219000
14Q22Q23 Microdeletion Syndrome
Short stature, Anterior pituitary hypoplasia, Underdeveloped nasal alae, Cryptorchidism, Renal hy... ORPHA:264200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Renal agenesis, Hypospadias, Short stature, Renal hypoplasia, Horseshoe... ORPHA:508498
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Primary a... OMIM:300200
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Abnormal nasal mucosa morphology, Hypercalcemia, Enlarged l... ORPHA:797
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Coffin-Siris Syndrome 1
Ectopic kidney, Conical tooth, Short philtrum, High palate, Microdontia, Hypospadias, Short statu... OMIM:135900
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Diarrhea, Oliguria, Abnormal blood ion concentration, Hypophos... ORPHA:31824
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Wid... ORPHA:2728
Enamel-Renal Syndrome
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... ORPHA:1031
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Diarrhea, Elevated circulating creatinine concentration, Vomiting, Hyperbilirubinemia, Ac... ORPHA:542323
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesophagea... ORPHA:586
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic st... ORPHA:90038
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rick... OMIM:612089
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Vomiting... ORPHA:340
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Dental crowding, Anal stenosis, C... ORPHA:2052
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal... ORPHA:18
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Malabsorption, Postnatal growth retardat... OMIM:227810
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Rectal prolapse, Abnorma... ORPHA:904
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Systemic Capillary Leak Syndrome
Renal insufficiency, Diarrhea, Oliguria, Pancreatitis, Abnormal renal tubule morphology ORPHA:188
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Epistaxis, Diarrhea, Peritoniti... ORPHA:727
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Ulbright-Hodes Syndrome
Abnormal penis morphology, Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism, ... ORPHA:3404
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Primary Ciliary Dyskinesia
Nasal congestion, Nasal polyposis, Intestinal malrotation, Chronic rhinitis ORPHA:244
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Hypophosphatemia, Nephrocalcinosis, ... OMIM:616026
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... OMIM:235400
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu... ORPHA:31826
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Narrow nasal ridge, Diarrhea, Dysphagia, Vomiting, Recurrent panc... OMIM:606721
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral renal hypoplasia, Cleft maxillary alveolar ridge, Gastroes... ORPHA:508488
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Peptic ulcer, Parathormone-independent increased renal t... ORPHA:405
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Cleft upper lip, ... ORPHA:93271
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... ORPHA:96179
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Parathyroid hyp... ORPHA:2237
Diamond-Blackfan Anemia 1
Short stature, Cleft upper lip, Depressed nasal ridge, Renal hypoplasia, Cleft palate, Colon canc... OMIM:105650
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Nausea, Intestinal perforation, Pancreatitis, Diarrhea, Hyperkalemia, Oligu... ORPHA:544482
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate... ORPHA:289176
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... ORPHA:93929
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Renal sal... ORPHA:361
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Prominent nose, Cryptorchidism, Disproportionate short stature, Renal hypoplasi... OMIM:210710
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Hypercalciuria, Abnormal salivary ... OMIM:181000
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc... ORPHA:731
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Blau Syndrome
Clear cell renal cell carcinoma, Xerostomia, Stage 5 chronic kidney disease, Nephropathy, Abnorma... ORPHA:90340
Charge Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... OMIM:214800
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Anteriorly placed anus, Conic... OMIM:261540
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Anal stenosis, Re... OMIM:107480
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morp... ORPHA:252164
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Orchitis, Abnor... ORPHA:449563
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism ORPHA:514
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Lassa Fever
Diarrhea, Oliguria, Dysphagia ORPHA:99824
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl... ORPHA:2911
Melioidosis
Prostatitis, Abnormal parotid gland morphology, Parotitis ORPHA:31202
Lacrimoauriculodentodigital Syndrome 1
Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti... OMIM:149730
Granulomatosis With Polyangiitis
Concave nasal ridge, Nasal mucosa vasculitis, Oral ulcer OMIM:608710
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Lujo Hemorrhagic Fever
Renal insufficiency, Elevated circulating C-reactive protein concentration, Diarrhea, Oliguria, H... ORPHA:319213
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical ... OMIM:619351
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... ORPHA:99880
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Epispadias, Cryptorchidism, Supernumerary tooth, Cleft lip, Apl... OMIM:615948
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Cryptorchidi... ORPHA:90791
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hy... ORPHA:231625
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Intrauterine g... OMIM:270100
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:168558
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Decreased... ORPHA:95409
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Diarrhea, Enterocolitis, Oliguria, Vomitin... ORPHA:90051
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis, Testicular a... ORPHA:90795
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:289548
Noonan Syndrome 9
Hydroureter OMIM:616559
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... ORPHA:289
Microphthalmia, Syndromic 1
Hydroureter, Dental crowding, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Cleft... OMIM:309800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Microphthalmia, Syndromic 6
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Cleft palate, High palate, Microglossia, Anteri... OMIM:607932
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Oral ulcer, Elevated circulating C-reactive protein concentration ORPHA:50918
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Addison Disease
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... ORPHA:85138
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Codas Syndrome
Hydroureter ORPHA:1458
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphos... ORPHA:466650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis, Bilateral renal agenesis OMIM:617667
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Diphallia
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... ORPHA:227
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... OMIM:614080
Vater/Vacterl Association
Renal dysplasia, Abnormal nasopharynx morphology, Hypospadias, Renal agenesis, Choanal atresia, E... OMIM:192350
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Diarrhea, Esophageal varix, Abnormal urin... ORPHA:275761
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis ORPHA:800
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis... ORPHA:90794
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis OMIM:300661
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Castleman Disease
Hematuria, Renal insufficiency, Ureteral obstruction ORPHA:160
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... ORPHA:280633
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... OMIM:266920
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Horseshoe kidney, Axial ... OMIM:274000
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis OMIM:269150
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... ORPHA:116
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Chand Syndrome
Hydroureter ORPHA:1401
Early Infantile Epileptic Encephalopathy
Micropenis, Renal dysplasia, Ureterocele ORPHA:1934
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis OMIM:265380
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele OMIM:616734
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract ORPHA:2273
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Glycosuria OMIM:600001
Restrictive Dermopathy 1
Ureteral duplication, Hypospadias OMIM:275210
Restrictive Dermopathy
Ureteral duplication, Hypospadias ORPHA:1662
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication ORPHA:2255

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 Tfcp2l1

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 Tfcp2l1.

No publications found that use IMPC mice or data for Tfcp2l1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tfcp2l1tm447086(L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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