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Gene: Gpr39 MGI:1918361

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Gene Summary

Name:
G protein-coupled receptor 39
Synonyms:
4933415E13Rik

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
decreased bone mineral density Gpr39em1(IMPC)Bay HOM   Early adult 8.35×10-06
polycystic kidney Gpr39em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Gpr39em1(IMPC)Mbp HOM Early adult 0.00

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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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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of left eye

16 Images

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Histopathology

Images

2 Images

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Human diseases caused by Gpr39 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gpr39 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Hyperlipidemia, Vomiting, Failure to thrive, Hypoalbuminemi... OMIM:615863
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia, Constipation OMIM:301033
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Obesity, Barrett esophagus, Gastroesophageal reflux ORPHA:99976
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Conjugated... OMIM:619868
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Chronic constipation, Attention deficit hyperactivity ... OMIM:620211
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Increased adipose tissue, Polyphagia, Obesity ORPHA:71529
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Cholesteryl Ester Storage Disease
Diarrhea, Esophageal varix, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Diarrhea, Accumulation of lipid droplets in small-bowel enteroc... OMIM:246700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Adiposis Dolorosa
Constipation, Painful subcutaneous lipomas, Obesity OMIM:103200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Intermittent diarrhea, Obesity, Aggressive behavior OMIM:620270
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Constipat... OMIM:182290
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia, High palate, Obesity, Bifid uvula, Cleft palate, Flex... OMIM:616222
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276575
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Failure to thrive, Pyloric stenosis OMIM:179010
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, High palate, Pyloric stenosis, Obesity, Cleft palate, Bifid uvula, Truncal ... ORPHA:96184
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious... OMIM:613670
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Colitis ORPHA:88643
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia, High palate ORPHA:254531
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Cog4-Cdg
Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Hypercholesterol... ORPHA:263501
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Recurrent hand flapping, Constipation, Overweight, Pica OMIM:615032
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem... ORPHA:276556
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Diarrhea, Increased L... OMIM:278000
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia, Abnormal tongue morphology, Loss of subc... ORPHA:2457
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Smith-Magenis Syndrome
Hypertriglyceridemia, Gastroesophageal reflux, Constipation, Obesity, Cleft palate, Motor stereot... ORPHA:819
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Omphalocele, Constipation, Macroglossia, Increased body mass index OMIM:614450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... ORPHA:314588
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Failure to thrive, Proportionate tall stature, Increased C-peptide level, A... ORPHA:528
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... ORPHA:157
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Diarrhea, Increased body weight, Esophageal varix, ... ORPHA:264580
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Neoplasm o... ORPHA:2126
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Diarrhea, Increased body weight, Hepatocellular car... ORPHA:79240
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Cachexia... ORPHA:1876
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gastroesophageal reflux, Increased body weight, Impulsivity, Constipation, Attention deficit hype... ORPHA:589905
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Joubert Syndrome 20
Renal cyst OMIM:614970
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Vomiting, Naus... OMIM:238600
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro... ORPHA:64753
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper... OMIM:151660
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Ureteral atresia, Renal dysplasia... OMIM:208540
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Failure to thrive, Hypercholesterolem... ORPHA:79237
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Axial Osteomalacia
Renal cyst OMIM:109130
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c... OMIM:246200
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption, Hypocholesterolemia OMIM:614338
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Nausea, Addictive alcohol use, Hypercholesterolemia ORPHA:90065
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Constipation, Failure to thrive, Neonatal hyper... ORPHA:90674
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Fasting hypoglyc... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... ORPHA:3085
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Hyperuricemia, Obesity, Chronic constipation, Attention deficit hyperactiv... ORPHA:261222
Schaaf-Yang Syndrome
Gastroesophageal reflux, Polyphagia, Impulsivity, Camptodactyly, Constipation, Obesity, Skin-pick... OMIM:615547
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Hypercholesterolemia, Increased LDL cholesterol concentration ORPHA:209902
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Obesity, Neoplasm of the liver, Overweight, Hypercholesterolemia ORPHA:69663
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Vomiting, Failure to thrive, Obesi... ORPHA:412035
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Blue Diaper Syndrome
Diarrhea, Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Narcolepsy Type 1
Restless legs, Constipation, Obesity, Restlessness, Attention deficit hyperactivity disorder ORPHA:2073
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Prader-Willi Syndrome
Self-injurious behavior, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Polyphagi... OMIM:176270
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Constipation, Abnormal gastric mucosa morpholo... ORPHA:263665
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Idiopathic Intracranial Hypertension
Vomiting, Nausea, Obesity ORPHA:238624
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Myofibrillar Myopathy 11
Overweight, Dysphagia OMIM:619178
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity OMIM:614662
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polycystic kidney dysplasia, Renal cortical microcysts, Hypospadias, Renal cyst OMIM:614866
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Diarrhea, Loss of subcutaneous adipos... OMIM:606721
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia OMIM:614962
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst OMIM:610199
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Diarrhea, Cachexia, Esophageal vari... ORPHA:275761
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Cleft palate, High palate, Hypercholesterolemia OMIM:616730
Neuhauser Syndrome
Hypercholesterolemia, Bifid uvula, High palate, Dysphagia OMIM:249310
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose... OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Esophageal varix, Elevated circulating alpha-fetoprotein... OMIM:619662
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma, Reduced circulating alpha-1-antitrypsin concentration OMIM:613490
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Gastroesophageal reflux, Hyperactivity, Diarrhea, Decreased body weight, Constipation... ORPHA:589821
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... ORPHA:805
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic steatosis ORPHA:363400
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Recurrent hand flapping, Protruding tongue, Obesity, Inappropriate laughter, Dy... ORPHA:411511
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Gaisböck Syndrome
Peptic ulcer, Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hy... ORPHA:90041
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abnormal circulating lipid concentration, Steatorrhea, Xanthelasma... ORPHA:186
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts OMIM:311200
Acrorenal-Mandibular Syndrome
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter OMIM:200980
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:616546
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Micropenis ORPHA:96149
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Recurrent hand flapping, Protruding tongue, Constipation, Obesit... ORPHA:98794
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hypercholesterolemia, Hyperuricemia, D... ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Cleft palate, High palate OMIM:618348
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatic fibrosis ORPHA:79319
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastroparesis, Gastrointestin... ORPHA:90291
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Testicular atrophy, Portal hypertension, Hypot... ORPHA:465508
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate, Motor stereotypy ORPHA:2479
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Gastroesophageal reflux, Inguinal hernia, Overgrowth, Anal atresia, Fa... ORPHA:261652
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Hypospadias, Renal cyst OMIM:102500
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Gastroesophageal reflux, Chronic diarrhea, ... ORPHA:500055
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Gastroesophageal reflux, Umbilical hernia OMIM:619769
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Abnormal stomach morphology ORPHA:281090
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Atrophic scars, Congenital pyloric atresia, Enamel hypo... OMIM:226730
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Gastroesophageal reflux, Pyloric stenosis, Failure to thrive, Ob... ORPHA:261197
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:263520
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... ORPHA:2044
Angelman Syndrome
Abnormality of the gastrointestinal tract, Tongue thrusting, Gastroesophageal reflux, Hyperactivi... ORPHA:72
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Vomiting, Hype... ORPHA:26793
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia ORPHA:84064
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst OMIM:615994
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus OMIM:609069
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight, Primary hypercortisolism, Increased circulating cor... OMIM:615830
Intrinsic Factor Deficiency
Absence of intrinsic factor, Reduced haptoglobin level OMIM:261000
Septo-Optic Dysplasia Spectrum
Polydipsia, Esophageal atresia, Tracheoesophageal fistula, Constipation, Obesity, Cleft palate ORPHA:3157
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Attention deficit hyperactivity disorder, Increased body weight, Small for gestational age OMIM:274300
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Hypoplasia of the bladder... OMIM:249000
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Joint contracture of the hand, Corneal scarring, Elevated circulating creatine ki... OMIM:309000
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resistance, Polycystic ova... ORPHA:79086
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Failure to thrive, Exocrine pancrea... OMIM:300972
Ogden Syndrome
Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis OMIM:300855
22Q11.2 Deletion Syndrome
Hypospadias, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Multiple renal... ORPHA:567
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level, Polyphagia OMIM:609734
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Oculocerebrorenal Syndrome Of Lowe
Narrow palate, Gastroesophageal reflux, Inguinal hernia, Hypokalemia, Abnormal dental enamel morp... ORPHA:534
Sotos Syndrome
Narrow palate, Tall stature, High, narrow palate, Episodic vomiting, Gastroesophageal reflux, Inc... OMIM:117550
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Hyperbilirubinemia, Esophageal varix, Hepatocellular ... ORPHA:64743
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Roberts Syndrome
Polycystic kidney dysplasia, Long penis ORPHA:3103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Cole Disease
Hyperglycemia OMIM:615522
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Gastroesophageal reflux, Increased body weight, Compulsive behaviors, I... ORPHA:398069
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Enlarged ovaries, Impaired glucose tole... ORPHA:769
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Hyperglycemia OMIM:615453
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Short Syndrome
Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes ... OMIM:269880
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia, Knee flexion contracture OMIM:620454
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Gastroesophageal reflux, Rectovaginal fistula, Microgastria, Perineal fistula... ORPHA:2538
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia OMIM:619471
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Micropenis, Renal hypoplasia, Renal cyst OMIM:210710
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hyperin... ORPHA:71212
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Trisomy 13
Hydronephrosis, Displacement of the urethral meatus, Multiple renal cysts, Abnormality of the ureter ORPHA:3378
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age ORPHA:254534
Abcd Syndrome
Total intestinal aganglionosis, Large for gestational age, Aganglionic megacolon OMIM:600501
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Wilson Disease
Increased body weight, Failure to thrive, Weight loss, Hypersexuality, Aggressive behavior ORPHA:905
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Addictive behavior, Bowel incontinence, Abnormal duodenum morphology... ORPHA:512
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... ORPHA:93111
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Femoral-Facial Syndrome
Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis OMIM:134780
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Neonatal insulin... ORPHA:99885
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid... ORPHA:887
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Cholestasis, Portal hypertension, Hepatitis, Postprandial hyperglycemia ORPHA:440713
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hyperlipidemia, Hyperaldosteronism, Dorsocervical fat pad, Abdominal obesi... ORPHA:189427
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Reynolds Syndrome
Gastroesophageal reflux, Dysphagia, Xerostomia, Abnormal gastric mucosa morphology ORPHA:779
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Peutz-Jeghers Syndrome
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter ORPHA:2869
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... ORPHA:261494
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst ORPHA:166035
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Hypokalemia, Increased body weight, Hyperaldosteronism, Weight l... ORPHA:1501
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Failure to thrive, Exocrine pancreatic insufficie... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Oral-pharyngeal dysphagia, Intestinal pseudo-obstruction, Diarrhea, C... ORPHA:273
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Meckel Syndrome, Type 7
Pancreatic cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerul... OMIM:267010
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Kagami-Ogata Syndrome
Large for gestational age, Inguinal hernia, Overgrowth, Omphalocele, Constipation, Dysphagia, Hep... ORPHA:254519
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Cystic Echinococcosis
Membranous nephropathy, Ovarian cyst, Hepatic cysts, Renal cyst ORPHA:400
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Dend Syndrome
Hyperglycemia ORPHA:79134
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter ORPHA:261344
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Joubert Syndrome 14
Renal cyst OMIM:614424
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis OMIM:257300
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega... OMIM:608594
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Retinitis Pigmentosa
Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... ORPHA:2473
Epidermolysis Bullosa Simplex With Pyloric Atresia
Scarring alopecia of scalp, Atrophic scars, Elevated circulating creatine kinase concentration, C... ORPHA:158684
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Insulin resistance, Hepatic steatosis OMIM:613327
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:99880
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency OMIM:208500
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts OMIM:193300
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... ORPHA:143
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... OMIM:122470
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis OMIM:618460
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Renal dysplasia, Abnormality... ORPHA:369837
Hellp Syndrome
Vomiting, Nausea, Increased body weight ORPHA:244242
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega... OMIM:269700
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis OMIM:618454
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464311
Mosaic Trisomy 9
Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney ORPHA:99776
Roberts-Sc Phocomelia Syndrome
Polycystic kidney dysplasia, Horseshoe kidney, Hypospadias, Long penis OMIM:268300
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Hyperbilirubinemia, Esopha... OMIM:301068
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ... ORPHA:508
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
1P21.3 Microdeletion Syndrome
Obesity, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464306
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst ORPHA:284
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Gastroesophageal reflux, Hyperbilirubinemia, Esophageal varix, Failure to thrive... OMIM:619534
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... OMIM:266920
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux ORPHA:2059
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... OMIM:613254
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Hyperglycemia, R... OMIM:124000
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Tuberous Sclerosis 1
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst OMIM:191100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Multiple renal cysts ORPHA:464329
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Ovarian neoplasm, Abnormal test... ORPHA:79474
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia OMIM:620423
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m... OMIM:600001
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Neoplasm of the stomach, Diarrhea, Increased body weight, Small intestine carcinoid, We... ORPHA:99889
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis ORPHA:2092
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:3008
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Re... OMIM:270400
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis OMIM:229850
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary color, Renal angiomyolipoma ORPHA:538
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... ORPHA:798
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Viss Syndrome
Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Umb... OMIM:619472
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Cushing Disease
Increased body weight, Dorsocervical fat pad, Abdominal obesity, Paradoxical increased cortisol s... ORPHA:96253
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... ORPHA:892
Pearson Syndrome
Renal cyst, Glycosuria, Proteinuria, Renal insufficiency, Lacticaciduria ORPHA:699
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Ureteropelvic junctio... ORPHA:818
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperglycemia ORPHA:466677
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts ORPHA:2750
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Hydronephrosis, Nephroblasto... ORPHA:373
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Carney Complex
Esophageal neoplasm, Neoplasm of the stomach, Tall stature, Neoplasm of the rectum, Increased bod... ORPHA:1359
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia ORPHA:444077
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1052
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99226
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... ORPHA:116
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Distal Deletion 15Q
Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney ORPHA:1596
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Meckel Syndrome
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Robinow Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis ORPHA:97360
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Bardet-Biedl Syndrome
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi... ORPHA:110
Williams Syndrome
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... ORPHA:904
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Pagod Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:991
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Tetrasomy 9P
Recurrent urinary tract infections, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Microp... ORPHA:3310
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Nephroblastoma, Duplication of renal pe... OMIM:312870
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hydronephrosis, Renal duplication, M... ORPHA:709
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ... OMIM:107480
Proteus Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Renal cyst, Long penis ORPHA:744
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... ORPHA:199
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con... ORPHA:64
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Multicystic kidney dyspl... OMIM:308205
Genitopatellar Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia OMIM:606170
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261552
Pallister-Killian Syndrome
Renal dysplasia, Hypospadias, Renal cyst OMIM:601803
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... OMIM:164210

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.

Phenotype Allele Zygosity Sex Life Stage
Femur - MPATH pathological entity term osteopenia Gpr39em1(IMPC)Bay HOM Early adult
Femur - MPATH pathological process term hypoplasia Gpr39em1(IMPC)Bay HOM Early adult

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 Gpr39.

No publications found that use IMPC mice or data for Gpr39.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gpr39em1(IMPC)Bay Exon Deletion Mice
Gpr39em1(IMPC)Mbp Indel Mice, Tissue

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