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

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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

16 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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Histopathology

Images

2 Images

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Eye Morphology

VIP of left eye

16 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
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Diarrhea, Hyperlipidemia, Vomiting, Hypoalbuminemia, Protein-losing enteropathy,... OMIM:615863
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, 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
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation, Attention deficit hyperactivity disorder OMIM:301033
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Obesity ORPHA:99976
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decr... ORPHA:453533
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Diarrhea, Hypertriglyceridemia, Esophageal varix ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bile acid concent... OMIM:619868
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Obesity, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Chronic constipation, Attention deficit hyperactivity disorder, Hypercholesterole... OMIM:620211
Essential Fructosuria
Hyperglycemia ORPHA:2056
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
Adiposis Dolorosa
Constipation, Obesity, Painful subcutaneous lipomas OMIM:103200
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Velopharyngeal insufficiency, Self hugging, Increased body w... OMIM:182290
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased... OMIM:246700
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Abnormal gastric mu... ORPHA:2494
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Cleft ... OMIM:616222
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, H... ORPHA:276580
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... OMIM:612526
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:276575
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive, Projectile vomiting OMIM:179010
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Pyloric stenosis, Obesity, Cleft palate, Truncal obesity, High palate,... ORPHA:96184
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Femoral-Facial Syndrome
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, High palate, Obesity ORPHA:254531
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... ORPHA:79644
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Pica, Constipation, Recurrent hand flapping, Tall stature OMIM:615032
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Intermittent diarrhea, Hypercholesterolemia, F... ORPHA:263501
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline... ORPHA:276556
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diarrhea, Esophageal varix, Increa... OMIM:278000
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Cleft palate, Self-injurious behavio... ORPHA:819
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight, Macroglossia, Constipation OMIM:614450
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Macroglossia, Proportionate tall statur... ORPHA:528
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
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, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Esophageal va... ORPHA:264580
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hype... OMIM:238600
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Obesity, Colon cancer, Attention deficit hyp... OMIM:300310
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Increased body weight, Gastroesophageal reflux, Constipation, Attention deficit hype... ORPHA:589905
Joubert Syndrome 20
Renal cyst OMIM:614970
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... OMIM:208540
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Obesity ORPHA:77296
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Axial Osteomalacia
Renal cyst OMIM:109130
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypoka... OMIM:174900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Addictive alcohol use, Vomiting, Nausea ORPHA:90065
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... ORPHA:79237
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Glycosuria, Pancreatic islet-cell hyperplasia, Fasting hypoglycem... ORPHA:263455
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity, Neoplasm of the liver, Hepatocellular carcinoma, Hypercholesterolemia ORPHA:69663
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Macroglossia, Umbilical hernia, Constipation, Attention deficit hyperactivity ... ORPHA:90674
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Gastroesophageal reflux,... OMIM:615547
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Vomiting, Constipation, Camptodactyly, F... ORPHA:412035
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Blue Diaper Syndrome
Diarrhea, Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Obesity, Chronic constipation, Hyperuricemia, Attention deficit hyperactiv... ORPHA:261222
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Neuhauser Syndrome
Hypercholesterolemia, High palate, Bifid uvula, Dysphagia OMIM:249310
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney OMIM:613730
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Idiopathic Intracranial Hypertension
Vomiting, Nausea, Obesity ORPHA:238624
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia OMIM:614866
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... OMIM:248370
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Myofibrillar Myopathy 11
Overweight, Dysphagia OMIM:619178
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Neoplasm of the stoma... ORPHA:44890
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Diarrhea, Hyperkalemia, Esophageal varix, Weight lo... ORPHA:275761
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate OMIM:616730
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... OMIM:619662
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior OMIM:614963
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Gastric varix, Hepatocellular carcinoma OMIM:613490
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, D... ORPHA:589821
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Inappropriate laughter, D... ORPHA:411511
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... ORPHA:300373
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Overweight, Obesity, Hyperproteinemia, Increased circulating ... ORPHA:90041
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Atroph... OMIM:226730
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney... ORPHA:731
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity, Constipati... ORPHA:98794
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Galloway-Mowat Syndrome 7
Hypercholesterolemia, High palate, Cleft palate OMIM:618348
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Diarrhea, Hyperlipidemia, Enterocolitis, Ulcerative colitis, Hepatocellular... ORPHA:79259
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate, Abnormal repetitive mannerisms ORPHA:2479
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Cole Disease
Hyperglycemia OMIM:615522
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Umbilical hernia, Gastroesophageal reflux, Hiatus hernia OMIM:619769
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Abnormal stomach morphology ORPHA:281090
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Chronic diarrhea, Flexion contra... ORPHA:500055
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glycosuria, Abnormal hepatic glycoge... ORPHA:2088
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Self-injurious behavior, Overgrowth, Gastroesophageal... ORPHA:261652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Angelman Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Aggressive behavior, Protruding tongue,... ORPHA:72
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Gastroesophageal reflux... ORPHA:261197
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Malabsorption, N... ORPHA:534
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Dorsocervical fat pad, Increased ... OMIM:615830
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Obesity, Tracheoesophageal fistula, Cleft palate, Constipation, Polydipsia ORPHA:3157
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... OMIM:300972
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ... ORPHA:567
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... ORPHA:79086
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney OMIM:300855
Sotos Syndrome
Aggressive behavior, High, narrow palate, Increased body weight, Narrow palate, Gastroesophageal ... OMIM:117550
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Polyphagia, Obesity, Hyperbilirubinemia OMIM:609734
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Hypoalbuminemia, Gastric... ORPHA:64743
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Flexion contracture, Xerostomia, Increased body weight, Chronic constipation, Abdomi... ORPHA:398069
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Rabson-Mendenhall Syndrome
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista... ORPHA:769
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Femoral-Facial Syndrome
Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia OMIM:134780
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia OMIM:210710
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Necrotizing Enterocolitis
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Large for gestational age OMIM:600501
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... ORPHA:93111
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m... ORPHA:512
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia ORPHA:440713
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... ORPHA:1501
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Failure to thrive, Exocrine... OMIM:118450
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Aggressive behavior, Oral-pharyngeal dysphagia, Abnormality of the... ORPHA:273
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney ORPHA:166035
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Large for gestational age, Overgrowth, Constipation, Dysphagia, Hep... ORPHA:254519
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Cystic Echinococcosis
Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst ORPHA:400
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Joubert Syndrome 14
Renal cyst OMIM:614424
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Dend Syndrome
Hyperglycemia ORPHA:79134
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis OMIM:257300
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Scarring alopecia of scalp, Flexion contractu... ORPHA:158684
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis OMIM:613327
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst OMIM:212065
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Hellp Syndrome
Increased body weight, Vomiting, Nausea ORPHA:244242
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... OMIM:269700
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Mosaic Trisomy 9
Hypoplasia of penis, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysplasia ORPHA:99776
Roberts-Sc Phocomelia Syndrome
Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney OMIM:268300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Hematemesis, Celiac disease, Esophageal varix, Bilater... OMIM:301068
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... ORPHA:508
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele... OMIM:619534
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Alveolar Echinococcosis
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst ORPHA:284
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... OMIM:124000
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney OMIM:200995
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Dorsocervical fat pad, Paradoxical increased cortisol se... ORPHA:99889
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged lacrimal glands... ORPHA:449432
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Schinzel-Giedion Syndrome
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ... ORPHA:798
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Cushing Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:96253
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... ORPHA:892
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Viss Syndrome
Chronic gastritis, High, narrow palate, Gastroesophageal reflux, High palate, Broad uvula, Bifid ... OMIM:619472
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Hyperglycemia ORPHA:466677
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Carney Complex
Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neopl... ORPHA:1359
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... ORPHA:116
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Meckel Syndrome
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... ORPHA:99413
Turner Syndrome
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... ORPHA:881
Mosaic Monosomy X
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... ORPHA:99228
Monosomy X
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... ORPHA:99226
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Distal Deletion 15Q
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Williams Syndrome
Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr... ORPHA:904
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Hypergly... OMIM:220111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
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
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Proteus Syndrome
Enlarged polycystic ovaries, Long penis, Renal cyst ORPHA:744
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... ORPHA:199
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... ORPHA:261552
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803

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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