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Gene: Ces1d MGI:2148202

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Gene Summary

Name:
carboxylesterase 1D
Synonyms:
TGH,  Ces3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Ces1dem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ces1dem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ces1dem1(IMPC)Mbp HOM Early adult 0.00
increased circulating alanine transaminase level Ces1dem1(IMPC)Mbp HOM Early adult 2.37×10-33
polycystic kidney Ces1dem1(IMPC)Mbp HOM Early adult 0.00
increased circulating aspartate transaminase level Ces1dem1(IMPC)Mbp HOM Early adult 1.43×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Ces1d mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ces1d by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Drug Metabolism, Altered, Ces1-Related
OMIM:618057

The table below shows human diseases predicted to be associated to Ces1d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... OMIM:232700
Ethanolaminosis
Cardiomegaly OMIM:227150
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse OMIM:173900
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... ORPHA:228308
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Stage 5 chroni... ORPHA:157
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hypertriglyce... OMIM:615558
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity, Motor stereotypy OMIM:610883
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertrig... OMIM:615703
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Polycysti... OMIM:608776
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Decreased HDL chol... OMIM:616834
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Dilated cardiomyopathy, Renal dysplasia... OMIM:608836
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic... OMIM:603860
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia, Hepatomegaly, Elevated circulating phytanic acid concentration OMIM:266510
Genitopalatocardiac Syndrome
Ventricular septal defect, Renal cyst, Transposition of the great arteries, Double outlet right v... OMIM:231060
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... OMIM:619902
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia OMIM:263210
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Squalene Synthase Deficiency
Bilateral cryptorchidism, Elbow flexion contracture, Hypocholesterolemia, Knee flexion contractur... OMIM:618156
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,... ORPHA:2237
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr... ORPHA:314588
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Hypoplasia of penis, Urethral valv... ORPHA:261290
Attrv30M Amyloidosis
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology ORPHA:85447
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Abnormal circulating enzyme concentration or ... ORPHA:79237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia, Hydrocele testis OMIM:618810
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Abnormal heart morphology, Hepatomegaly, Elevated circulating long chain fatty aci... OMIM:214110
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Situ... OMIM:208540
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, El... OMIM:617872
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia OMIM:619170
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Alagille Syndrome 2
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... OMIM:610205
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Cyanosis, Hepatic steatosis, Low p... OMIM:261680
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... OMIM:212065
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... OMIM:231100
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,... ORPHA:79324
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... OMIM:212140
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... ORPHA:2088
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia OMIM:269920
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Abnormal heart morphology OMIM:613390
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Increased circulating very long-chain fatty acid concentration, Elevated circulating... OMIM:614866
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decreased circulati... ORPHA:199296
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia, Increased ... OMIM:610199
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... OMIM:255120
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... OMIM:300280
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Renal hypoplasia/aplasia, Ventricular septal defect, ... ORPHA:1166
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Syndromic Diarrhea
Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Splenomegaly, Ventricular septa... ORPHA:84064
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, De... OMIM:608594
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia ORPHA:35
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy... OMIM:201475
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect OMIM:263630
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia OMIM:619064
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu... OMIM:261750
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... ORPHA:42
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Transketolase Deficiency
Increased level of ribose in urine, Elevated circulating ribitol concentration, Abnormal heart mo... ORPHA:488618
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney, Ventricular septal... OMIM:606232
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... ORPHA:2970
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... OMIM:269700
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Ventricular septal defect OMIM:614815
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial effusion OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia OMIM:619051
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... OMIM:617713
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Caroli Disease
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph... OMIM:266500
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous lipoma, In... OMIM:131100
Meckel Syndrome 14
Polycystic kidney dysplasia, Single ventricle OMIM:619879
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal ... ORPHA:3375
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia, Elevated circulatin... OMIM:618835
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia, Elevated circulatin... OMIM:618839
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... ORPHA:57777
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... OMIM:615415
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-linked sial... OMIM:256550
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Joubert Syndrome 20
Renal cyst OMIM:614970
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-... OMIM:232220
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Elevated circulating creatinine concentration, Renal insufficiency, Ventricu... OMIM:617478
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,... OMIM:607398
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia OMIM:602579
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia, Hyperactivity, Cryptorchidism OMIM:223370
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... ORPHA:199299
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Cardiac rhabdomyoma,... ORPHA:805
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia ORPHA:664
Mulibrey Nanism
Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Increased LDL cholesterol concentration, H... ORPHA:247598
Ogden Syndrome
Secundum atrial septal defect, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defec... OMIM:300855
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... OMIM:615994
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp... OMIM:617049
Orofaciodigital Syndrome I
Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic... OMIM:311200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia, Atrial septal defect OMIM:616546
22Q11.2 Deletion Syndrome
Renal hypoplasia, Tetralogy of Fallot, Vesicoureteral reflux, Abnormal pulmonary valve morphology... ORPHA:567
Caroli Syndrome
Hyperbilirubinemia, Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia, Conjuga... ORPHA:480520
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Hepato... OMIM:614922
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Patent foramen ovale, Hydronephr... ORPHA:96149
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Renal agenesis, Abnormality... OMIM:249000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Atrial septal defect, Ventricular septal defect OMIM:263520
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst OMIM:615583
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... OMIM:620609
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallo... ORPHA:2044
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly... ORPHA:391428
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Ventricular septal defect OMIM:102500
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor... OMIM:301111
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub... OMIM:613986
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Cystic Echinococcosis
Abnormal heart morphology, Hyperbilirubinemia, Hepatic cysts, Ovarian cyst, Renal cyst, Membranou... ORPHA:400
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Hepatomegaly,... ORPHA:79303
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Smith-Lemli-Opitz Syndrome
Precocious puberty, Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Elevated cir... OMIM:270400
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... OMIM:300257
Glycogen Storage Disease Ii
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... OMIM:232300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... OMIM:616897
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy, Elevated circulating creatine kinase c... ORPHA:268
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Tetralogy of Fallot, Muscular ventricular septal defect, Hyperbilirubinemia, Pa... OMIM:210710
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... ORPHA:308552
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Meckel Syndrome, Type 4
Renal cyst, Atrial septal defect, Ventricular septal defect OMIM:611134
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... OMIM:620306
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... OMIM:620511
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,... ORPHA:2473
Addison Disease
Adrenal calcification, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficienc... ORPHA:85138
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Renal artery stenosis, Hypophosphatemic rickets, Dilated cardiomyopathy OMIM:208000
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Elevated circula... OMIM:614921
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal cyst, Hyperca... OMIM:615398
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Agitation,... OMIM:620423
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Trisomy 13
Abnormality of the ureter, Ventricular septal defect, Hydronephrosis, Displacement of the urethra... ORPHA:3378
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Decreased adipose tissue aroun... OMIM:606721
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Xanthelasma, Abnormal circulating enzyme concentration or activity, Hyperlipidemia,... ORPHA:79259
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Cardiomegaly, Hepatom... ORPHA:465508
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr... OMIM:220500
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Truncus arteriosus, Ventricular sept... OMIM:134780
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, D... OMIM:232240
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Multicystic kidney dysplasia OMIM:618829
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial... ORPHA:261197
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Kleefstra Syndrome
Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Hydro... ORPHA:261494
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti... OMIM:207800
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Renal cyst, Hyperoxaluria OMIM:601539
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Sickle Cell Disease
Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, Hepatomegaly OMIM:603903
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Ventricular septal defect ORPHA:166035
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary system, Abnormal heart m... ORPHA:369837
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid... OMIM:307030
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology ORPHA:2075
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Mosaic Trisomy 9
Horseshoe kidney, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular septal... ORPHA:99776
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele... ORPHA:79404
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis ORPHA:2241
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Ventricular septal defect ORPHA:261344
Joubert Syndrome 14
Renal cyst, Ventricular septal defect OMIM:614424
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V... ORPHA:49
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Atrial septal defect, Micropenis, Hypos... OMIM:257300
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria OMIM:619259
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst, Ventricular septal defect OMIM:250410
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hepatomegaly, Hypospadias ORPHA:912
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Micropenis ORPHA:1692
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Mitral valve prolapse, Ventricular septal defect, Nephroblastoma, Renal cyst, Renal... OMIM:617107
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic cysts... OMIM:208500
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal d... OMIM:618454
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Pancreatic cysts, E... ORPHA:464329
Pearson Syndrome
Glycosuria, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Renal insufficiency, Splen... ORPHA:699
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Ventricular septal defect, Hydronephr... OMIM:146510
Fryns Syndrome
Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Hydronephrosis, Abnorma... ORPHA:2059
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal cyst, Ureter... OMIM:618460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Mitral stenosis, Renal dysplasia OMIM:617260
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ventricular septal defect, Hydrone... ORPHA:464311
Alveolar Echinococcosis
Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreat... ORPHA:284
Roberts-Sc Phocomelia Syndrome
Long penis, Horseshoe kidney, Ventricular septal defect, Atrial septal defect, Polycystic kidney ... OMIM:268300
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... OMIM:602782
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Muc... OMIM:252500
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Cornelia De Lange Syndrome 1
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Ventricu... OMIM:122470
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... ORPHA:116
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Cardiac rhabdomyoma, Renal cyst OMIM:191100
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hyperbilirubin... OMIM:229600
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Atrial septal defect ORPHA:85201
Histiocytoid Cardiomyopathy
Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular septal defect, Hepatomegaly ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Trun... ORPHA:2538
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ventricular septal defect, Hydrone... ORPHA:464306
Tuberous Sclerosis 2
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Absence of renal cor... OMIM:613254
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... OMIM:619991
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
D-Bifunctional Protein Deficiency
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Splenom... OMIM:261515
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Tetra... OMIM:118450
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly ORPHA:1454
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Renal ... ORPHA:2092
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Fucosidosis
Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria OMIM:230000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati... ORPHA:365
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Abnormal m... ORPHA:581
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Renal insufficiency, Splenomegaly, Patent foramen ovale, Renal cyst, Left ven... OMIM:613610
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Distal Deletion 15Q
Hypoplastic left heart, Multicystic kidney dysplasia, Double outlet right ventricle with doubly c... ORPHA:1596
Williams Syndrome
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Over... ORPHA:904
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... OMIM:266920
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... ORPHA:500095
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Hepatomegaly, Cy... OMIM:269860
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbiliru... OMIM:618278
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Ventricular septal defect,... ORPHA:97360
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Fryns Syndrome
Renal agenesis, Ventricular septal defect, Hydronephrosis, Renal cyst, Atrial septal defect, Uret... OMIM:229850
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal ... ORPHA:1507
Von Hippel-Lindau Disease
Cardiomyopathy, Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma,... ORPHA:892
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm, Ch... ORPHA:538
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Renal cyst, Hypospadias OMIM:616975
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Atrioventricular canal defect, Ure... ORPHA:818
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Splenomegaly, Nephroblastoma, Ventricu... ORPHA:373
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ventricular septal defect, Renal cyst, Atrial septal defect, Ectopic kidney OMIM:117650
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... ORPHA:534
Bohring-Opitz Syndrome
Cardiomegaly, Nephroblastoma, Urinary retention, Abnormal cardiac septum morphology ORPHA:97297
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Situs inversus totalis, Renal hypoplasia/ap... ORPHA:991
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia OMIM:616300
Joubert Syndrome 21
Renal cyst, Splenomegaly, Hyperechogenic kidneys OMIM:615636
Schinzel-Giedion Syndrome
Abnormal heart morphology, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephr... ORPHA:798
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protein concentra... OMIM:620376
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... ORPHA:75565
1P36 Deletion Syndrome
Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Hydronephrosis, Ren... ORPHA:1606
Bardet-Biedl Syndrome
Chronic kidney disease, Cardiomyopathy, Horseshoe kidney, Abnormal heart morphology, Vesicoureter... ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Hajdu-Cheney Syndrome
Aortic valve stenosis, Mitral stenosis, Splenomegaly, Ventricular septal defect, Multiple renal c... ORPHA:955
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect ORPHA:1393
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Subvalvular aortic stenosis, Atrial septal defect, Nephroblastoma ORPHA:1052
Trisomy 10P
Abnormal heart morphology, Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Abnormal mitral valve morphology, Patent fo... ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... OMIM:615287
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Ventricular septal d... ORPHA:2308
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect OMIM:300373
Townes-Brocks Syndrome
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Abnormal pulmo... ORPHA:857
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Right ventr... OMIM:312870
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Meckel Syndrome
Multicystic kidney dysplasia, Situs inversus totalis, Urethral atresia, Ureteral duplication, Pan... ORPHA:564
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Splenomegaly, Cardiomegaly, Elevated circulating C-react... OMIM:256040
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Aicardi-Goutières Syndrome
Micropenis, Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis,... ORPHA:51608
Peters Plus Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia... ORPHA:709
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Renal... OMIM:107480
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias ORPHA:495875
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defe... ORPHA:199
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet... ORPHA:261537
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Mi... OMIM:606170
Mowat-Wilson Syndrome
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet... ORPHA:2152
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1308
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Duplication of renal pelvis, A... ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Atrial septal defect, Hy... OMIM:308205
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Branchiooculofacial Syndrome
Renal cyst, Hypospadias, Renal agenesis OMIM:113620
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Renal cyst, Atrial... OMIM:601803
Pmm2-Cdg
Hypoalbuminemia, Hypertrophic cardiomyopathy, Reduced thyroxin-binding globulin, Proteinuria, Abn... ORPHA:79318
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Uretero... OMIM:164210
Drug Metabolism, Altered, Ces1-Related
OMIM:618057

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 Ces1d

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 Ces1d.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Efficient gene targeting in mouse zygotes mediated by CRISPR/Cas9-protein. Transgenic research (November 2016) Ces1dem1(IMPC)Mbp PMC5350237

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MGI Allele Allele Type Produced
Ces1dtm42913(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ces1dem1(IMPC)Mbp Indel Mice, Tissue

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