Not currently registered for phenotyping at IMPC

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

Gene Summary

GLIS family zinc finger 3
4833409N03Rik,  E330013K21Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Glis3 mutations

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

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

The table below shows human diseases associated to Glis3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Intrauterine growth retardation, Cholestasis, Pancreatic cysts, ... OMIM:610199

The table below shows human diseases predicted to be associated to Glis3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Hyperglycemia, Hyperinsulinemia OMIM:616214
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Pituitary Dwarfism With Large Sella Turcica
Pituitary dwarfism, Decreased response to growth hormone stimulation test, Growth delay, Hypothyr... OMIM:262710
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Nephrolithiasis, Renal cortical adenoma, Parathyro... OMIM:145001
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Severe postnatal growt... ORPHA:411590
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Transient neonatal diabet... ORPHA:99886
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Short stature, Decreased response to growth hormone stimulation test, Hypothy... OMIM:300123
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Short stature, Polysplenia OMIM:211890
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Hypothyroidism, Degenerative liver disease OMIM:268040
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hype... OMIM:608600
Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Intrauterine growth retarda... ORPHA:552
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Hepatic steatosis, Renal cortical cysts, Hypoglycemia, Pro... OMIM:231680
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism, Growth delay OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism, Growth delay OMIM:274800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, Diabetes mellitus OMIM:605231
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stim... OMIM:262400
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hyp... ORPHA:35878
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Intrauterine growth retardation, Cholestasis, Pancreatic cysts, ... OMIM:610199
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Hypogonadism, Renal insufficiency OMIM:615987
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Intrauterine growth retardation, Polycystic ovarie... ORPHA:1227
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Dehydration OMIM:618958
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperinsulinemia, Cholestasis, Pancreatic ... OMIM:246200
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Type 1 Diabetes Mellitus
Polyuria, Hyperglycemia, Diabetes mellitus OMIM:222100
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant di... OMIM:604367
Mitchell-Riley Syndrome
Absent gallbladder, Intrauterine growth retardation, Cholestasis, Pancreatic hypoplasia, Biliary ... OMIM:615710
Joubert Syndrome 26
Central hypothyroidism, Panhypopituitarism, Micropenis, Short stature, Decreased response to grow... OMIM:616784
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Enteric Anendocrinosis
Dehydration, Portal hypertension, Type I diabetes mellitus, Cholestatic liver disease ORPHA:83620
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Multicystic kidney dysplasia, Ren... ORPHA:3032
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency, Hypo... OMIM:615993
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Growth delay, Hepatomegaly, Hypertriglyceridemia OMIM:306000
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Femoral-Facial Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Short s... ORPHA:1988
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dehydration ORPHA:79159
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Neonata... OMIM:130650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepatomegaly, Diabet... ORPHA:79084
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276575
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Renal agenesis, Hepatic steatosis, Hypothyroidism, H... ORPHA:93111
Familial Renal Glucosuria
Glycosuria, Dehydration, Moderate postnatal growth retardation ORPHA:69076
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Severe postnatal growth retardation, Hydronephrosis, Polycystic kidney... ORPHA:2237
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Hypothyroidism, Adrenal insufficiency, Nephrotic syndrome, Hypoglyce... OMIM:617575
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Renal cortical cysts, Decreased response to growth hormone stimulation test, Decreased serum insu... ORPHA:79323
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Galloway-Mowat Syndrome 6
Hypothyroidism, Nephrotic syndrome, Intrauterine growth retardation, Proteinuria, Growth delay, S... OMIM:618347
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts ORPHA:2924
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Intrauterine growth retardation, Renal cortical microcysts, Crypt... OMIM:614866
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Ketonuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Pancreatic hypoplasia, Neonat... OMIM:260370
Aa Amyloidosis
Adrenal insufficiency, Enlarged kidney, Hypothyroidism, Nephrotic syndrome, Cholestasis, Acute ki... ORPHA:85445
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Intrauterine growth retardation, Pancreatic hypoplasia, Neonatal insulin-dependent di... ORPHA:99885
Thyrotropin-Releasing Hormone Deficiency
Short stature, Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Hyperthyroxinemia, Familial Dysalbuminemic
Increased circulating free T4 level, Euthyroid hyperthyroxinemia OMIM:615999
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Short stature, ... OMIM:301035
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Severe postnatal growth retardation, Jaundice, Short stature, Prolonged neonatal ... OMIM:613038
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism, Growth delay OMIM:274400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Immunodeficiency 31C
Hypothyroidism, Growth delay, Short stature, Diabetes mellitus, Delayed puberty OMIM:614162
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Short stature, Pancreatitis, Dehydration OMIM:606054
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Short st... OMIM:618999
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Short stature, Elevated circulati... OMIM:176400
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Short stature, Male hypogonadism, Hypothyroidism OMIM:618625
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Abnormality of the liver, Central hypothyroidi... ORPHA:1667
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Hepatomegaly ORPHA:28
Combined Malonic And Methylmalonic Acidemia
Dehydration, Hypoglycemia ORPHA:289504
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hepat... ORPHA:276556
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71526
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Lacticaciduria, 3-Methylglutaric aciduria, Hypoglycemia, Hepatomegaly, Hepati... ORPHA:26791
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Hepatomegaly, Pancreatitis ORPHA:27
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation test OMIM:618160
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Cryptorchidism, Renal salt wasting, Congenital hypothyroidism, Precocious puberty OMIM:614736
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Unilateral renal agenesis, Glycosuria, Epididymal cyst, Protei... OMIM:137920
Ascites, Abnormality of the thyroid gland, Primary hyperparathyroidism, Hepatomegaly, Increased c... ORPHA:97282
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellit... ORPHA:280356
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Growth delay, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Igg4-Related Thyroid Disease
Hypothyroidism, Sclerosing cholangitis, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Has... ORPHA:64744
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia ORPHA:140976
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Hepatomegaly, Myoglobinuria, Polycystic kid... ORPHA:157
Pendred Syndrome
Hypothyroidism, Nephropathy, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Biliary cirrhosis, Fasting hypoglycemia, Abnormal salivary gla... ORPHA:2298
Goiter, Hypothyroidism, Hypohidrosis, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
17Q12 Microdeletion Syndrome
Cryptorchidism, Ureterocele, Multicystic kidney dysplasia, Short stature, Pancreatic aplasia, Dia... ORPHA:261265
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Jaundice, Short stature, Goiter ORPHA:226292
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cholangiocarcinoma, Decreased... ORPHA:465508
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Dehydration, Type I diabetes mellitus, Diabetes mellitus OMIM:560000
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Polycystic ovaries, Hypercholesterolemia... OMIM:151660
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
C Syndrome
Cryptorchidism, Short stature, Hepatomegaly, Renal cortical cysts OMIM:211750
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Growth delay,... ORPHA:2088
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Recurrent hypo... OMIM:616817
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Hypothyroidism, Hashimoto thyroiditis, Primary hyperparathyroidism, Parathy... OMIM:610755
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hypoplasia of penis, Hyperinsulinemia ORPHA:791
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketonuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Hypothyroidism ORPHA:2349
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Hepatosplenomegaly, Short stature, Delayed pub... OMIM:615952
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Proportionate short stature, Increased circulat... ORPHA:171876
Hypothyroidism, Portal hypertension, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Short... ORPHA:213
Wolfram Syndrome 1
Hydroureter, Hypothyroidism, Diabetes insipidus, Hydronephrosis, Growth delay, Testicular atrophy... OMIM:222300
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Bardet-Biedl Syndrome 4
Cryptorchidism, Renal cyst, Abnormality of the kidney, Hypogonadism OMIM:615982
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Jaundice, Intrahepatic biliary dys... OMIM:214110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hypoglycemia, Nonketotic hypoglycemia, Ureteral duplication, Hydronephrosis, Lip... OMIM:608836
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Branchiootorenal Syndrome 1
Renal agenesis, Euthyroid goiter, Renal malrotation, Polycystic kidney dysplasia, Renal dysplasia... OMIM:113650
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypohidrosis, Short stature, Hypoparathyroidism, Nephropathy, Renal insufficiency ORPHA:1563
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia, Short stature, Hepatic fibrosis, Hypos... OMIM:614091
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Hepatomegaly, Pancreatitis OMIM:251000
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Cystic renal dysplasia, Tubulointerstitial nephritis, Hepatomegaly, Myoglobinu... ORPHA:228308
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Renal cyst, Hepatic agenesis, Micropenis ORPHA:1692
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Severe postnatal growth retardation, Cholestasis, Short stature, Hepatitis, ... ORPHA:440713
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Nephrocalcinosis, Female hypogonadism, Pri... OMIM:240300
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Delayed puberty, Nephroblastoma ORPHA:52022
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Abnormality of the pancreas, Cholestasis, Intrauterine growth retardat... OMIM:222470
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating 18-hydroxycortisone level, Growth delay,... OMIM:610600
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypothyroidism, Abnormality of the urethra, Hypogonadotropic hypogonadism ORPHA:752
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Hydronephrosis, Duplicated collecting system,... OMIM:617093
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Ascites, Edema, Abnormal glucose homeostasis ORPHA:391673
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Growth delay OMIM:251850
Li-Campeau Syndrome
Cryptorchidism, Short stature, Micropenis, Hypothyroidism OMIM:619189
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Rhizomelic arm shortening, Supernumerary nipple, Rhizomelic leg shortening,... ORPHA:397715
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Cryptorchidism, Mild short stature, Congenital hypothyroidism, D... OMIM:614613
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Chronic hepatit... OMIM:269200
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism, Abnormality of the kidney, Hepatomegaly OMIM:613730
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia, Intrauterine growth retardation, Cryptorchidism, Postnatal growth r... ORPHA:397590
Thyroid Lymphoma
Goiter, Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis ORPHA:97285
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Harrod Syndrome
Cryptorchidism, Renal cortical microcysts, Hypospadias OMIM:601095
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Hepatomegaly OMIM:617713
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556030
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia ORPHA:2849
Short stature, Thyroid agenesis, Growth delay, Hypothyroidism ORPHA:95713
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Renal Fanconi syndrome, Hyperinsulinemia... ORPHA:263455
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hypothyroidism, Hyperechogenic pancreas, Mild postnatal growth... ORPHA:456312
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Nephrocalcinosis, Renal cyst, Hypothyroidism, Neonatal hypoglycemia, 3-Methylg... ORPHA:445038
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Cholestasis, Cholangitis, Cholangiocarcin... ORPHA:53035
Caroli Syndrome
Portal hypertension, Cholangitis, Cholangiocarcinoma, Abnormality of the kidney, Pancreatitis, He... ORPHA:480520
Ascher Syndrome
Goiter, Hypothyroidism ORPHA:1253
Bardet-Biedl Syndrome 9
Hyperglycemia, Renal insufficiency OMIM:615986
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema OMIM:616069
Distal Monosomy 12Q
Unilateral cryptorchidism, Ectopic kidney, Micropenis, Hydronephrosis, Growth delay, Polycystic k... ORPHA:96149
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Decrea... ORPHA:730
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Edema, Dehydration, Hyperglycemia ORPHA:134
Chronic Hiccup
Dehydration ORPHA:396
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Short stature, Hypothyroidism OMIM:617763
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Nephrocalcinosis, Fasting hypoglycemia, Severe postnatal g... ORPHA:769
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypothyroidism, Glomerular sclerosis, Congenital nephrotic syndrome,... OMIM:256300
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Diabetes mellitus,... OMIM:167800
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Fanconi Anemia, Complementation Group O
Renal cyst, Cryptorchidism, Hydronephrosis, Short stature, Stage 5 chronic kidney disease OMIM:613390
4-Hydroxyphenylpyruvic aciduria, Hypothyroidism, 4-hydroxyphenylacetic aciduria ORPHA:2118
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Abnormality of the liver, Hepatosplenomega... ORPHA:231222
Arima Syndrome
Occipital meningocele, Nephronophthisis, Hepatic steatosis, Hepatomegaly, Polycystic kidney dyspl... OMIM:243910
Odontochondrodysplasia 1
Nephronophthisis, Mesomelic short stature, Short stature, Polycystic kidney dysplasia OMIM:184260
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormality of the peritoneum, Hypoi... ORPHA:2126
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Cryptorchidism, Hydronephrosis, Hepatomegaly, Intrahepatic biliary dys... OMIM:214100
Distal Tetrasomy 15Q
Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Dilatation of the renal pelvis... ORPHA:314588
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Hypothyroidism, Hypoplastic spleen, Adrenal insuff... ORPHA:699
Thyroid Hypoplasia
Hypothyroidism, Growth delay, Jaundice, Short stature, Thyroid hypoplasia ORPHA:95720
Autoimmune Polyendocrinopathy Type 2
Primary adrenal insufficiency, Hashimoto thyroiditis, Graves disease, Abnormality of the thyroid ... ORPHA:3143
Secondary Short Bowel Syndrome
Primary hypothyroidism, Cholestasis, Central hypothyroidism, Growth delay, Dehydration, Steatorrhea ORPHA:95427
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism OMIM:617577
Hypothyroidism, Portal hypertension, Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia ORPHA:79319
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hydrops fetalis, Macronodular cirrhosis, Hepatomegaly, Pancrea... OMIM:557000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nephr... OMIM:203800
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone OMIM:274300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Jaundice, Giant cell hepatitis, Cholestatic liver disease, Nephrogenic diabetes insi... OMIM:208085
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Renal hypoplasia, Renal cyst OMIM:228940
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Short stature, Elevated circulating parathyroid hormone... OMIM:612462
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Delayed puberty, Hepatomegaly, Short stature, Diabetes mellitu... OMIM:616263
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Intrauterine growth retardation, Chordee, Renal dysplasia, Bilateral cryptorchidi... ORPHA:96179
Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus, Renal ste... ORPHA:412
Glucose/Galactose Malabsorption
Glycosuria, Hypertonic dehydration, Abnormal oral glucose tolerance OMIM:606824
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Renal cyst, Cholestasis, Hepatomegaly, Short stature, Renal dysplasia, Nephropa... OMIM:266920
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency ORPHA:1909
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Intrauterine growth retardation, Hypothyroid... ORPHA:84064
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Multiple renal cysts ORPHA:3033
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:289548
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Short stature OMIM:619013
Hemochromatosis Type 2
Congenital hepatic fibrosis, Diabetes mellitus, Hypogonadism, Abnormality of endocrine pancreas p... ORPHA:79230
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:168558
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Chronic pancreatitis, Tubular basement membrane disintegratio... OMIM:613159
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
Trisomy 17P
Intrauterine growth retardation, Hydronephrosis, Growth delay, Hypoplasia of penis, Polycystic ki... ORPHA:261290
Short Syndrome
Birth length less than 3rd percentile, Intrauterine growth retardation, Insulin-resistant diabete... OMIM:269880
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Growth delay, Hypoplasia of penis, Hepatomegaly, Type II diabetes... ORPHA:99812
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism, Cryptorchidism, Renal hypoplasia, Hypoplasia of penis, Short stature, Renal dyspl... ORPHA:85321
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Type II diabetes mellitus, Pancreatitis, Delayed menarche, Type I diabetes mellit... ORPHA:412057
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Intrauterine growth retardation, Cholestasis, Cryptorchidism, Hepatomegaly OMIM:608104
Gne Myopathy
Hypothyroidism ORPHA:602
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Intrauterine grow... OMIM:619487
Premature Ovarian Failure 10
Hypothyroidism, Elevated circulating luteinizing hormone level, Decreased testicular size, Elevat... OMIM:612885
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Perineal hypospadias, Neonatal hypoglycemia, In... ORPHA:66634
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Short stature, Elevated circulating parathyroid hormone... OMIM:103580
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Short stature, Nephrotic range proteinuria, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Fanconi Anemia, Complementation Group I
Hypothyroidism, Horseshoe kidney, Intrauterine growth retardation, Renal hypoplasia, Short statur... OMIM:609053
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Postnatal growth retardati... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short stature, Hypoplasia of penis, Hypothyroidism ORPHA:2491
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hypothyroidism, Hashimoto thyroiditis ORPHA:83601
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Hypothyroidism, Intrauterine growth retardation, Insul... OMIM:616541
Short Rib-Polydactyly Syndrome
Nephronophthisis, Abnormality of the liver, Intrauterine growth retardation, Multiple glomerular ... ORPHA:1505
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Growth delay, Congeni... OMIM:601427
Reticular Dysgenesis
Dehydration, Aplasia/Hypoplasia of the thymus ORPHA:33355
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Growth delay, Increased T3/T4 ratio, Congenital hypothyr... OMIM:614450
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 level, Hyperthyroidism OMIM:603373
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Decreased circulating aldosterone level, Growth delay, Increased circulating renin l... OMIM:203400
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Increased level of galactitol in urine, Hyperinsuli... ORPHA:79237
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615108
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Increased circulating renin level, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism,... OMIM:177735
Autosomal Agammaglobulinemia
Dehydration, Hepatitis ORPHA:33110
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Microform Holoprosencephaly
Renal agenesis, Hypothyroidism, Intrauterine growth retardation, Panhypopituitarism, Hypoplasia o... ORPHA:280200
Congenital Hypothyroidism
Hypothyroidism, Nephrolithiasis, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior h... ORPHA:442
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Abnormality of the kidney, Diabetes mellitus ORPHA:391372
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Intrauterine growth retardatio... ORPHA:391408
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Paternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Precocious puberty, Postnatal grow... ORPHA:96191
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Hepatic fibrosis, Micropenis, Pancreatic fibrosis OMIM:263520
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Hepatomegaly OMIM:251900
Orofaciodigital Syndrome I
Myelomeningocele, Pancreatic cysts, Proteinuria, Ovarian cyst, Polycystic kidney dysplasia, Short... OMIM:311200
Lig4 Syndrome
Cryptorchidism, Hypothyroidism, Micropenis OMIM:606593
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Delayed puberty, Hypopituitarism, Chro... ORPHA:231226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Glomerulonephritis, Hepatitis, Type I diabetes mellitus OMIM:304790
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cyst, Abnormality of the kidney, Parathyroid adenoma, Chronic kidney ... ORPHA:805
Nephronophthisis 13
Nephronophthisis, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615109
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Cholestasis, Proteinuria, Renal hypoplasia, Choles... OMIM:610205
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Short stature, Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Glutaric Aciduria Iii
Goiter, Hyperthyroidism, Glutaric aciduria OMIM:231690
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Cryptorchidism, Micropenis, Hypercalciuria, Adrenal hypoplasia, ... OMIM:614732
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Increased circulating androgen conc... ORPHA:90794
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Polycystic ovaries, Delaye... ORPHA:79259
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, En... ORPHA:785
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis, S... OMIM:615415
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Short stature, Hypohidrosis, Hypothyroidism ORPHA:1882
Oculoskeletodental Syndrome
Renal agenesis, Hypothyroidism, Cryptorchidism, Hypercalciuria, Splenomegaly, Hepatomegaly, Short... OMIM:618440
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Neonatal death, Stillbirth OMIM:236500
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short stature, Delayed puberty, Hypothyroidism ORPHA:2994
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Central Diabetes Insipidus
Dehydration, Diabetes insipidus ORPHA:178029
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Congenital hypothyroidism OMIM:275100
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Congenital hypothyroi... OMIM:619609
Familial Cold Urticaria
Dehydration, Hyperhidrosis ORPHA:47045
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Growth delay, Jaundice, Short stature, Ectopic ... ORPHA:95712
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Abnormality of the endocrine system, Diabetes mellitus, Abnormality of the thyroi... ORPHA:77296
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Cirr... ORPHA:363400
Congenital Tufting Enteropathy
Dehydration, Cholestatic liver disease, Steatorrhea ORPHA:92050
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormality of the pancreas, Abnormal pineal melatonin secretion, Cholecystitis, ... ORPHA:69665
Hyperchlorhidrosis, Isolated
Dehydration, Hypernatremic dehydration OMIM:143860
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Beta-Thalassemia Major
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Delayed puberty, Hypopituitarism, Sple... ORPHA:231214
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Meningocele, Intrauterine growth retardation OMIM:603194
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Hypohidrosis, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Hepatomegaly, Short sta... OMIM:613385
Duodenal Atresia
Annular pancreas, Polyhydramnios, Abnormality of the pancreas ORPHA:1203
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Decreased circulating T4 level, Prolonged neonatal jaundice, Elevated ... ORPHA:226313
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly, Growth delay, Dehydration, Hyperglycemia ORPHA:3008
Omenn Syndrome
Hypothyroidism, Nephrotic syndrome, Splenomegaly, Hepatomegaly, Thyroiditis ORPHA:39041
Cystic Echinococcosis
Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstructio... ORPHA:400
Dend Syndrome
Dehydration, Hyperglycemia ORPHA:79134
Campomelia, Cumming Type
Abnormality of the pancreas, Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multip... ORPHA:1318
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Portal hypertension, Multiple small medu... OMIM:216360
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Hypothyroidism OMIM:301058
Matthew-Wood Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Abnormal spl... ORPHA:2470
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Methimazole Embryofetopathy
Hypothyroidism, Hypospadias, Intrauterine growth retardation, Abnormality of the thyroid gland ORPHA:1923
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Polyhydramnios, Hyperactive renin-angiotensin system, Dehydration, Hyperaldosteronism OMIM:214700
Hypothyroidism, Hypogonadotropic hypogonadism, Type I diabetes mellitus, Recurrent pancreatitis, ... ORPHA:550
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Renal cyst, Nephrotic syndrome, Hypothyroidism, Proteinuria, Proximal tubulopa... OMIM:212065
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Intrauterine growth retardation, Pancreatic hypoplasia, Biliary a... OMIM:600001
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Portal fibrosis, Dehy... OMIM:619377
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypohidrosis, Intrauterine growth retardation, Cryptorchidism, Micropenis, Short ... ORPHA:363528
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Growth delay OMIM:602722
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Potocki-Lupski Syndrome
Short stature, Abnormal renal morphology, Hypothyroidism OMIM:610883
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Increased cir... ORPHA:508
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Intrauterine growth retardation, Accessory spleen, Cry... OMIM:249000
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Renal cyst, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolong... ORPHA:79303
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, Thyroiditis, Goiter, Hydrocele ... OMIM:158350
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Nephrocalcinosis, Hypoglycemia, Intrauterine growth retardation, Short stature OMIM:618005
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Delayed puberty, Short stature,... ORPHA:289494
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Hepatosplenomegaly, Portal hypertension, Cholangitis, Thyroiditis, Hepatitis, Cir... ORPHA:228426
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Hepatomegaly, Renal dysp... OMIM:614922
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Von Hippel-Lindau Syndrome
Epididymal cyst, Paraganglioma, Abnormality of the liver, Pancreatic cysts, Pheochromocytoma, Neo... OMIM:193300
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Transketolase Deficiency
Renal cyst, Hepatomegaly, Proportionate short stature, Increased level of ribose in urine, Type I... ORPHA:488618
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Hypoglycemia, Cholestasis, Peritonitis, Dehydration, Splenic abscess ORPHA:810
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ... OMIM:607361
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Delayed puberty, Growth delay, Short stature, Recurrent urinary tract infections,... OMIM:619234
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Growth delay, Increased circulating prolactin concentration, D... ORPHA:99832
Bardet-Biedl Syndrome
Nephrotic syndrome, Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Short stat... ORPHA:110
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Bile duct proliferation, Polycystic liver disease, Chr... OMIM:208500
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:3198
Isolated Biliary Atresia
Hypothyroidism, Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atret... ORPHA:30391
Hypothyroidism, Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Hyperhidrosis ORPHA:349
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypothyroidism, Occipital myelomeningocele, Intrauterine growth retardation, Cryp... ORPHA:567
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypohidrosis, Abnormality of the hypothalamu... ORPHA:293987
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Abnormality of the hypothalamus-pituit... ORPHA:300298
Methylmalonic Aciduria, Cblb Type
Dehydration, Hepatomegaly OMIM:251110
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele ORPHA:2031
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Martinez-Frias Syndrome
Intrauterine growth retardation, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annula... OMIM:601346
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Polycystic kidney dysplasia, Short stature, Renal dysplasia OMIM:613091
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Diabetes... ORPHA:528
Verheij Syndrome
Renal agenesis, Renal cyst, Renal hypoplasia, Growth delay, Short stature OMIM:615583
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the liver, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Myoglobinuria, Fasting hyperinsulinemia, Hypoketoti... ORPHA:71212
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Intrauterine growth retardation, Cry... OMIM:610198
Joubert Syndrome 20
Renal cyst OMIM:614970
Cystinosis, Nephropathic
Glycosuria, Exocrine pancreatic insufficiency, Primary hypothyroidism, Hypohidrosis, Splenomegaly... OMIM:219800
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Precocious pu... ORPHA:254346
Koolen-De Vries Syndrome
Hypothyroidism, Ureteral duplication, Renal duplication, Cryptorchidism, Hydronephrosis, Short st... ORPHA:96169
Methylmalonic Aciduria, Cbla Type
Dehydration, Hepatomegaly OMIM:251100
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Primary adrenal insufficiency, Hepatosplenomegaly, Hepatic fibr... ORPHA:275761
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatosplenomegaly, Dehydration, Hepatomega... OMIM:219700
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Intrauterine growth retardation, Absent nipple, Polycy... OMIM:200980
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Hypothyroidism, Hypoglycemia, Adrenocortical c... ORPHA:116
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Intrauterine growth retardation, Hydrops fetalis, Growth delay, Jaundice, Dehydration ORPHA:79282
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:79086
Martin-Probst Syndrome
Hypothyroidism, Chordee, Proteinuria, Cryptorchidism, Micropenis, Hypoplastic nipples, Short stat... OMIM:300519
Nephronophthisis 3
Polyuria, Enuresis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Edema, Hyperhidrosis, Hyperglycemia, Pulmonary edema ORPHA:466677
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalciuria, Testicular neopla... ORPHA:99880
Congenital Short Bowel Syndrome
Dehydration, Steatorrhea OMIM:615237
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Brain-Lung-Thyroid Syndrome
Abnormality of the thyroid gland, Thyroid dysgenesis, Growth delay, Megacystis, Congenital hypoth... ORPHA:209905
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydronephrosis, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Femoral-Facial Syndrome
Renal agenesis, Cryptorchidism, Micropenis, Polycystic kidney dysplasia, Short stature, Maternal ... OMIM:134780
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Renal dysplasia, Decreased testicular size OMIM:615287
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Thyroid agenesis, Growth delay, Congenital hypothyroidism, Elevated circulating t... OMIM:218700
Ring Chromosome 12 Syndrome
Hypothyroidism, Glandular hypospadias, Cryptorchidism, Growth delay, Breast hypoplasia ORPHA:1439
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Allan-Herndon-Dudley Syndrome
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Disproportionate short-limb short stature, Intrauterine growth retarda... OMIM:101800
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Parathyroid Carcinoma
Renal cyst, Parathyroid carcinoma, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalci... ORPHA:143
Isovaleric Acidemia
Dehydration OMIM:243500
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst, Meningocele, Intrauterine growth retardation OMIM:611134
Woodhouse-Sakati Syndrome
Hypothyroidism, Delayed puberty, Hyperinsulinemia, Micropenis, Decreased serum testosterone conce... ORPHA:3464
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Hyperinsulinemia, Delayed puberty, Insulin-resistant diabetes mell... ORPHA:79474
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Renal cell carcinoma OMIM:135150
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Lamellar Ichthyosis
Dehydration, Short stature ORPHA:313
Myelomeningocele, Multiple renal cysts ORPHA:66637
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Renal cyst, Nephrocalcinosis, Cryptorchidism, Hydronephrosis, Di... ORPHA:2044
Schimke Immuno-Osseous Dysplasia
Intrauterine growth retardation, Abnormality of thyroid physiology, Proteinuria, Growth delay, Di... ORPHA:1830
Nephronophthisis 11
Nephronophthisis, Polyuria, Growth delay, Tubular basement membrane disintegration, Renal tubular... OMIM:613550
Cholangitis, Peritonitis, Prostatitis, Abnormality of the parathyroid gland, Dehydration, Thyroid... ORPHA:2552
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly OMIM:602579
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Intrauterine growth retardation, Abnormality of the pancreas, Abn... ORPHA:887
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Increased circulating prolactin concentration, Dia... ORPHA:2905
Ulbright-Hodes Syndrome
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Severe intrauterine growth retardati... ORPHA:3404
Prune Belly Syndrome
Abnormality of the ureter, Cryptorchidism, Renal insufficiency, Multicystic kidney dysplasia, Rec... ORPHA:2970
15q26 overgrowth syndrome
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Duplication of renal... DECIPHER:81
Roberts Syndrome
Cryptorchidism, Long penis, Severe intrauterine growth retardation, Polycystic kidney dysplasia, ... ORPHA:3103
Hypothyroidism, Splenomegaly, Hepatomegaly ORPHA:79332
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Hypothyroidism, Hematuria, Proteinuria, Chronic kidney disease, Disproportionate short-trunk shor... ORPHA:1855
Fragile X Tremor/Ataxia Syndrome
Premature ovarian insufficiency, Hypothyroidism, Urinary incontinence OMIM:300623
Alveolar Echinococcosis
Biliary cirrhosis, Renal cyst, Portal hypertension, Pancreatic cysts, Cholangitis, Abnormality of... ORPHA:284
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Bile duct proliferation, Cystic liver disease, ... OMIM:612284
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus, Splenomegaly, Hepatomegaly, Short stature, Prolonged neonatal...