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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
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
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

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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Ethanolaminosis
Cardiomegaly OMIM:227150
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... OMIM:613095
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycem... ORPHA:329249
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... OMIM:614859
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse OMIM:173900
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Poly... ORPHA:71529
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Hypothyroidism, Hypocholesterolemia, Abnormal repetitiv... OMIM:610883
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... OMIM:608776
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating cr... OMIM:608836
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Delayed puberty, Decreased LDL cholesterol concentration... OMIM:616834
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:26791
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Renal cyst, Transposition of the great arteries, Double o... OMIM:231060
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal in... OMIM:619902
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, H... ORPHA:276580
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276575
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Bilateral cryptorchidism, Elbow flexion contracture... OMIM:618156
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Increased total bilirubin ORPHA:2924
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hypergonadotro... ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Hypoc... ORPHA:2237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morph... ORPHA:314588
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypoplastic left heart, Polycystic kidney... ORPHA:261290
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplasia, Elevated cir... OMIM:214110
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti... OMIM:617885
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic cysts, Situs inversus totalis, Splenomegaly, Stage ... OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... ORPHA:69663
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Hypocholesterolemia OMIM:618810
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... ORPHA:528
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... OMIM:602088
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Abno... OMIM:212065
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
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
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Alg12-Cdg
Hyponatremia, Abnormal circulating enzyme concentration or activity, Elevated hepatic transaminas... ORPHA:79324
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... ORPHA:79644
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr... OMIM:261680
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome OMIM:269920
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology OMIM:613390
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Hypospadias, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly... OMIM:614866
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Pancreatic cysts, Splenomegaly, Renal cy... OMIM:610199
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:608594
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux,... ORPHA:1166
Syndromic Diarrhea
Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegaly, Renal hypoplasia, A... ORPHA:84064
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypothyroid... ORPHA:14
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... OMIM:615160
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly OMIM:619064
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Head-banging... OMIM:182290
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Renal cyst, Abnormal... ORPHA:488618
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:201475
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Polycystic kidney dysplasia, Abnormal ... ORPHA:53035
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... ORPHA:42
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, Polycystic kidney dy... OMIM:606232
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Prune Belly Syndrome
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ... ORPHA:2970
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndrom... OMIM:617713
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:614815
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone c... OMIM:131100
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth... OMIM:232200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... OMIM:266500
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Meckel Syndrome 14
Polycystic kidney dysplasia, Single ventricle OMIM:619879
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... OMIM:235200
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve st... OMIM:615415
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Splenome... ORPHA:731
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... ORPHA:57777
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Increa... OMIM:256550
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... OMIM:617478
Joubert Syndrome 20
Renal cyst OMIM:614970
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Proximal tubulopathy, Hypoalbuminemia, Renal cyst OMIM:602579
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... ORPHA:90363
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma OMIM:253250
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Bardet-Biedl Syndrome 17
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
22Q11.2 Deletion Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Polycystic kidney dysplasia OMIM:616546
Dubowitz Syndrome
Hyperactivity, Cryptorchidism, Inguinal hernia, Hypocholesterolemia OMIM:223370
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Elevated amni... OMIM:249000
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Adrenal insufficiency, Hypoalbuminemia, Hypog... OMIM:617575
Distal Deletion 12Q
Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret... ORPHA:96149
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... OMIM:614922
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Polycystic kidney dysplas... ORPHA:480520
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Polycystic kidney dysplas... OMIM:311200
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Situs inversus totalis... OMIM:267010
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi... ORPHA:941
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:617093
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia OMIM:263520
Verheij Syndrome
Ventricular septal defect, Renal agenesis, Renal hypoplasia, Renal cyst, Truncus arteriosus OMIM:615583
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitin... ORPHA:391428
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... ORPHA:90790
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Hajdu-Cheney Syndrome
Ventricular septal defect, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... OMIM:616026
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... OMIM:232300
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Abnormal sa... ORPHA:2298
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal... ORPHA:79303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Cystic Echinococcosis
Hepatomegaly, Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hyperb... ORPHA:400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... ORPHA:268
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Coach Syndrome 1
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... OMIM:216360
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Splenomegaly, Cryptorchidis... OMIM:270400
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:308552
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Poly... OMIM:210710
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c... OMIM:620306
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... OMIM:616897
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:611134
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Femoral-Facial Syndrome
Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Ventricular sept... OMIM:134780
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal hypoplasia, Increa... ORPHA:85138
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly ORPHA:99931
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria ORPHA:445038
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom... OMIM:615398
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... ORPHA:95409
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hypogl... ORPHA:79259
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Trisomy 13
Ventricular septal defect, Abnormality of the ureter, Multiple renal cysts, Atrial septal defect,... ORPHA:3378
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... ORPHA:465508
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... OMIM:232240
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Atr... OMIM:220500
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia OMIM:607361
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephr... ORPHA:369837
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... ORPHA:261197
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... ORPHA:261494
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Renal cyst, Horseshoe kidney ORPHA:166035
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst, Hepatomegaly OMIM:601539
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria OMIM:603903
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hypospadias ORPHA:2075
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... ORPHA:99776
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta... OMIM:207800
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal defect, Hydronephrosis ORPHA:261344
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Campomelia, Cumming Type
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Joubert Syndrome 14
Ventricular septal defect, Renal cyst OMIM:614424
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Fetal pyelectasis, Bilateral rena... ORPHA:49
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Pulmonic stenosis, Atrial ... OMIM:257300
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Hydronephrosis ORPHA:912
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Tyrosinemia, Type I
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Mosaic Trisomy 1
Ventricular septal defect, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias ORPHA:1692
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... OMIM:146510
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... OMIM:208500
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Pearson Syndrome
Hepatomegaly, Renal insufficiency, Proteinuria, Hypomagnesemia, Splenomegaly, Lacticaciduria, Ren... ORPHA:699
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Nephroblastoma, ... OMIM:617107
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pat... OMIM:618454
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Patent foramen ovale, ... OMIM:618460
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology, Vesicoureteral ref... ORPHA:2059
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, E... ORPHA:464329
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Aortic valve steno... ORPHA:464311
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Renal dysplasia, Renal cyst OMIM:617260
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Roberts-Sc Phocomelia Syndrome
Hypospadias, Ventricular septal defect, Long penis, Horseshoe kidney, Polycystic kidney dysplasia... OMIM:268300
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Alveolar Echinococcosis
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat... ORPHA:284
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Abnormal renal morphology, V... OMIM:122470
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... ORPHA:116
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Genitopatellar Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Liver Disease, Severe Congenital
Cardiomegaly, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal def... OMIM:619991
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Aortic valve steno... ORPHA:464306
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Cardiac rhabdomyoma, Renal cyst, Renal cell ca... OMIM:613254
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries ORPHA:137675
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... OMIM:229600
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
D-Bifunctional Protein Deficiency
Splenomegaly, Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentr... OMIM:261515
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus, Renal hypoplasia/... ORPHA:2538
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Alagille Syndrome 1
Duplicated collecting system, Atrial septal defect, Hypertriglyceridemia, Ventricular septal defe... OMIM:118450
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:365
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy ORPHA:1454
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Horseshoe kidn... ORPHA:2092
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hyperbilirubinemia, Atrial septal de... OMIM:613610
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst,... OMIM:266920
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Hypospadias, Mitral stenosis, Mitral atresia... ORPHA:1596
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur... ORPHA:581
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Renal hypoplasia, Patent foramen ovale, Cy... OMIM:269860
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Robinow Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Pulmonic sten... ORPHA:97360
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Ventricular septal defect, Renal cyst, Atrial ... OMIM:229850
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... ORPHA:1507
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c... ORPHA:892
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Renal cyst, Vesicoureteral reflux, Patent foramen ovale OMIM:616975
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Renal ... ORPHA:818
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Cerebrocostomandibular Syndrome
Ventricular septal defect, Ectopic kidney, Horseshoe kidney, Renal cyst, Atrial septal defect OMIM:117650
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ... ORPHA:538
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... ORPHA:534
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Bohring-Opitz Syndrome
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly ORPHA:97297
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Pagod Syndrome
Situs inversus totalis, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/ap... ORPHA:991
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Renal cyst OMIM:615636
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Abnormal heart m... ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... OMIM:615287
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart valve morphology, Dil... ORPHA:1606
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect ORPHA:1393
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Ventricular septal defect, Splenomegaly, Multiple renal cysts, Aortic ... ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Nephroblastoma, Subvalvular aortic stenosis ORPHA:1052
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology ORPHA:171929
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Dextrocardia, Horseshoe kidney... ORPHA:3310
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Hypoplastic left heart, Aortic valve ste... ORPHA:2308
Townes-Brocks Syndrome
Atrial septal defect, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the k... ORPHA:857
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Multicystic kidney dysplasia, Ventricular septal defect OMIM:300373
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Ventricular septal defect, Splenomegaly, Renal cyst, Duplication of re... OMIM:312870
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Ure... ORPHA:564
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Bicusp... ORPHA:709
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Townes-Brocks Syndrome 1
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral va... OMIM:107480
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Cornelia De Lange Syndrome
Atrial septal defect, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hyp... ORPHA:199
Proteus Syndrome
Enlarged polycystic ovaries, Splenomegaly, Long penis, Renal cyst ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bicuspid aortic valve, Abnormal ... ORPHA:261537
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Micropenis, Hydron... OMIM:606170
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Atrial sept... OMIM:308205
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Bicus... ORPHA:2152
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bicuspid aortic valve, Ventricul... ORPHA:261552
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Pmm2-Cdg
Pericarditis, Proteinuria, Pericardial effusion, Reduced thyroxin-binding globulin, Nephrotic syn... ORPHA:79318
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Ectopic kidney, Vesicour... OMIM:164210
Pallister-Killian Syndrome
Hypospadias, Ventricular septal defect, Renal cyst, Hypertrophic cardiomyopathy, Atrial septal de... OMIM:601803
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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