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
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc... 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, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr... OMIM:615999
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test, Pituitary dwarfism, Growth... OMIM:262710
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hurthle cell thyroid ad... OMIM:145001
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Glucose intolerance, Severe postn... ORPHA:411590
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus, Dehydration OMIM:601410
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia 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
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:609698
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Dehydration, Hypothyroi... ORPHA:99886
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism, Short ... OMIM:300123
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polycystic liver disease, Short stature, Pancreatic cysts, Polysplenia OMIM:211890
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... OMIM:608600
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T3, Abnormal thyroid-stimulating hormone level, Abnormal circulating f... OMIM:620198
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter, Growth delay OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter, Growth delay OMIM:274800
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate conc... ORPHA:35878
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyperglycemia, Diabetic k... OMIM:262190
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nephronophthisis 9
Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro... OMIM:613824
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Ab... OMIM:615710
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Decreased circulating T4 concentration, Thyroid defect in oxidation and o... OMIM:274500
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen cont... OMIM:232700
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Short stature, Type I diabetes mell... ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dehydration, Intrauterine growth retardation, Hypoglycemia, Cryptorchidism OMIM:618958
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc... OMIM:610199
Enteric Anendocrinosis
Cholestatic liver disease, Type I diabetes mellitus, Dehydration, Portal hypertension ORPHA:83620
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Donohue Syndrome
Postnatal growth retardation, Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious pub... OMIM:246200
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diab... OMIM:604367
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Type 1 Diabetes Mellitus
Polyuria, Diabetes mellitus, Hyperglycemia OMIM:222100
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism... OMIM:616784
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... OMIM:615542
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy... ORPHA:3032
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Hypogonadism... ORPHA:3363
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Short statu... ORPHA:1988
Beckwith-Wiedemann Syndrome
Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux... OMIM:130650
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyperinsulinemic... ORPHA:276608
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dehydration ORPHA:79159
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Hypo... ORPHA:93111
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Reni Syndrome
Hypoglycemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syn... OMIM:617575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Maternal diabetes, Hypoketotic h... ORPHA:276580
Renal cortical cysts, Decreased response to growth hormone stimulation test, Decreased serum insu... ORPHA:79323
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic ki... ORPHA:2237
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Focal segmental glomerulosclerosis, Nephro... OMIM:618347
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria OMIM:618857
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease ORPHA:2924
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Familial Renal Glucosuria
Glycosuria, Moderate postnatal growth retardation, Dehydration ORPHA:69076
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Propionic Acidemia
Hepatomegaly, Pancreatitis, Dehydration, Short stature, Hypoglycemia OMIM:606054
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst, Hepatomegaly OMIM:614870
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroid... OMIM:301035
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Dehydration ORPHA:79312
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Dehydration, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Int... ORPHA:99885
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Dehydration, ... OMIM:212140
Precocious Puberty, Central, 1
Isosexual precocious puberty, Hypothyroidism, Short stature, Elevated circulating follicle stimul... OMIM:176400
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple... OMIM:613095
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration ORPHA:28
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased serum testo... ORPHA:90791
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Dehydration, Precocious puberty, Absence of pubertal develop... OMIM:300200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Dehydration, Ascites, Central hypothyroidism, Hypothyroidism, Short statu... ORPHA:1667
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular s... OMIM:616113
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Hyperglycemia,... OMIM:609069
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Biliary tract a... OMIM:137920
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Nephrotic syndrome, Hypothyroidism, Short stature, Hepatosplenom... OMIM:618999
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Growth delay OMIM:274400
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Cryptorchidism, Ureterocele, S... ORPHA:261265
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Hepatic periportal necrosis, Acute ... ORPHA:26791
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Dehydration ORPHA:289504
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Dehydration ORPHA:27
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Jaundice, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentratio... OMIM:613038
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Hepatomegaly, Pancreatitis, Dehydration OMIM:251000
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hyperinsulinemia, Abnormal ci... ORPHA:280356
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hyperglycemia OMIM:604484
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Myoglobinuria, Polycys... ORPHA:157
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor... ORPHA:64744
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, De... OMIM:614736
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Nephropathy, Hyperparathyroidism ORPHA:705
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
C Syndrome
Renal cortical cysts, Hepatomegaly, Short stature, Cryptorchidism OMIM:211750
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Increased circulating gonadotro... ORPHA:97282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Hypothyroidism, Renal hypoplasia, Short stature, Growth delay, Recurrent hypogly... OMIM:616817
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Dehydration, Glucocortocoid-insensitive primary hyperaldosteronism, Increased cir... ORPHA:171876
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Ketonuria ORPHA:2089
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Hypogonadism, Renal cyst OMIM:615982
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hepatomegaly, Hyperinsulinemia, Hypercholesterolemia, Acute pancreatitis, H... OMIM:151660
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Delayed puberty, Dehydration, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism... ORPHA:213
Li-Campeau Syndrome
Hypothyroidism, Cryptorchidism, Micropenis, Short stature OMIM:619189
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Jaundice, Short stature ORPHA:2349
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Hepatomegaly, Dehydration OMIM:560000
Rhyns Syndrome
Hypopituitarism, Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cryptorchidism, Dehydration OMIM:214150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Long-chain... OMIM:608836
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease OMIM:174050
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Severe postnatal growth retardation, Cholestasis, Portal ... ORPHA:440713
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Testicular atrophy, Portal hypertension, Hypot... ORPHA:465508
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ... OMIM:214110
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Periportal fibrosis OMIM:263210
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Hypothyroidism, Short stature, Exocrine pancreatic insufficiency, Hepatosplenome... OMIM:615952
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Growth delay, Hydronephrosis... OMIM:222300
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis ORPHA:1692
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Short stature, Renal c... OMIM:222470
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Dehydration, Increased circulating renin level, Incre... OMIM:610600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia,... ORPHA:228308
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Short stature, Renal hypoplasia, Hepatic fi... OMIM:614091
Combined Oxidative Phosphorylation Deficiency 54
Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Supernumerary nipple, Hypospadias, Renal cortical cysts, Rhizomelic ar... ORPHA:397715
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypothyroidism, Hypohidrosis, Short stature, Nephropathy ORPHA:1563
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Potocki-Shaffer Syndrome
Nephroblastoma, Hypothyroidism, Micropenis, Delayed puberty ORPHA:52022
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of the urethra ORPHA:752
Thyroid Lymphoma
Hypothyroidism, Goiter, Hyperthyroidism, Hashimoto thyroiditis ORPHA:97285
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron... ORPHA:556030
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly OMIM:608776
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Female hypogonadism, Hypo... OMIM:240300
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Hypospadias, Microphallus, Hypothyroidism, Intrauterine growth reta... ORPHA:397590
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis... OMIM:614866
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation,... OMIM:275100
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Renal cyst, Hypothyroidism, Growth delay, Nep... ORPHA:445038
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... ORPHA:95716
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur... ORPHA:263455
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Congenital hypothyroidism, Cryptorchidism, Intrauterine growth retardation, Diabetes... OMIM:614613
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Caroli Syndrome
Abnormality of the kidney, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatit... ORPHA:480520
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Hypoglycemia, Hyperglycemia, Dehydration OMIM:615453
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Fasting hypoglycemia... OMIM:613027
Hypothyroidism, Thyroid agenesis, Short stature, Growth delay ORPHA:95713
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Chronic Hiccup
Dehydration ORPHA:396
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Bardet-Biedl Syndrome 9
Hyperglycemia, Renal insufficiency OMIM:615986
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Adrenal hypoplasia, Prolonged neonata... OMIM:214100
Beta-Ketothiolase Deficiency
Hepatomegaly, Dehydration, Hyperglycemia, Edema, Hypoglycemia ORPHA:134
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Intrauterine growth retardation, Hydronep... ORPHA:314588
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal insufficiency, Exocrine p... OMIM:269200
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidney, Biliary atresia, Polycyst... ORPHA:96149
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism,... OMIM:616263
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Cholestasis, Dehydration, Central hypothyroidism, Growth delay ORPHA:95427
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Polyhydramnios, Rhizomelia, Dehydration, Growth delay, Intrauterine growth... OMIM:616271
Odontochondrodysplasia 1
Short stature, Polycystic kidney dysplasia, Nephronophthisis, Mesomelic short stature OMIM:184260
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Short stature, Growth delay, Urethral valve, Hy... ORPHA:261290
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Hepa... ORPHA:231222
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Short stature OMIM:618625
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Ascites, Hyperglycemia, Peritonitis, Edema ORPHA:391673
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia, Hypothyroidism, Hyperglycemia ORPHA:90065
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Congenital nephrotic syndrome, Hypothyroidism, Growth delay, Renal tubular ... OMIM:256300
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Pancreatitis, Hereditary
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici... OMIM:167800
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
4-hydroxyphenylacetic aciduria, Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Neonatal death, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Hydrops fetalis, Dehydration, Macronodular cirrhosis, Exocrine pancrea... OMIM:557000
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Neoplasm o... ORPHA:2126
Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatic fibrosis ORPHA:79319
Short Syndrome
Hyperglycemia, Ovarian cyst, Birth length less than 3rd percentile, Intrauterine growth retardati... OMIM:269880
Pearson Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hepatomegaly... ORPHA:699
Arima Syndrome
Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Poly... OMIM:243910
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Fanconi Anemia, Complementation Group O
Renal cyst, Short stature, Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Crypto... OMIM:613390
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Hyperlipidemia, Impaired glucose to... OMIM:248370
Thyroid Hypoplasia
Jaundice, Thyroid hypoplasia, Hypothyroidism, Short stature, Growth delay ORPHA:95720
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Glucose/Galactose Malabsorption
Glycosuria, Abnormal oral glucose tolerance, Hypertonic dehydration OMIM:606824
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Chromosome 1P35 Deletion Syndrome
Intrauterine growth retardation, Cryptorchidism, Short stature, Congenital hypothyroidism OMIM:617930
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:96179
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Renal steatosis, Hepatomegaly, Acute pancreatitis, Hypothyroidism, Diabetes mellitus, Hepatic ste... ORPHA:412
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Short stature, Hepatosplenomegaly, Hypopituitarism, Hepatic steatosis OMIM:619013
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hepatomegaly, Acute pancreatitis, Dehydration, Nonketotic hypoglycemia, Recurrent hypog... ORPHA:20
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Gne Myopathy
Hypothyroidism ORPHA:602
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Hyp... ORPHA:79230
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:289548
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Intrauterine growth... OMIM:260370
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Adrenocorticotr... ORPHA:168558
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Hypothyroidism, R... ORPHA:84064
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hepatomegaly, Hypothyroidism, Renal hypoplasia, Short stature, Hypog... ORPHA:254913
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Delayed menarche, Hypothyroidism, Type II diabetes mellitus, Hypogonadism, Type I d... ORPHA:412057
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
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Jaundice, Intrahepatic biliary atresia, Hepatic ... OMIM:208085
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cholestasis, Hypothyroidism, Neonatal death, Decreased circulating T4 concentration... OMIM:608104
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Hypothyroidism, Growth delay, Type II diabetes mellitus, Crypt... ORPHA:99812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Growth delay, Hyperglycemia, Glucose intolerance, Insulin-resis... OMIM:608612
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, He... OMIM:203800
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Dehydration ORPHA:33355
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Hepatomegaly, Dehydration OMIM:251110
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Cryptorchidism, Growth delay OMIM:619908
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Hypothyroidism, Renal hypoplasia, Short stature, Renal dysplasia, Cryptorchi... ORPHA:85321
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Galactokinase Deficiency
Increased level of galactitol in urine, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogon... ORPHA:79237
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Vesicoureteral ... OMIM:609053
Primary hypothyroidism, Nephrotic range proteinuria, Hepatic steatosis, Short stature ORPHA:300536
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Glomerular sclerosis, Recurrent urinary tract infections, Acute pancreatitis, Hepat... OMIM:619487
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism, H... OMIM:601427
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Renal cyst OMIM:605231
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis ORPHA:83601
Premature Ovarian Failure 10
Hypoplasia of the ovary, Hypothyroidism, Decreased testicular size, Elevated circulating follicle... OMIM:612885
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperactive renin-angiotensin system, Dehydration, Hyperaldosteronism, Pseudohypoaldosteronism OMIM:264350
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Disproportionate short-limb short stature, Cryptorchid... OMIM:616541
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Congenital hypothyroidism ORPHA:96183
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Hypoplasia of penis, Microvesicular hepatic s... ORPHA:66634
Foxp1 Syndrome
Hypothyroidism, Abnormality of the kidney, Diabetes mellitus ORPHA:391372
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst OMIM:614815
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Autosomal Agammaglobulinemia
Hepatitis, Dehydration ORPHA:33110
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Growth delay, Dehydra... OMIM:203400
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Dehydration, Pseudohypoaldosteronism, Increased circulating... OMIM:177735
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypothyroidism, Short stature, Hypoplasia of penis ORPHA:2491
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Growth delay, Congenital hypothyr... OMIM:614450
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Familial Glucocorticoid Deficiency
Renal salt wasting, Hypoglycemic seizures, Recurrent urinary tract infections, Ketotic hypoglycem... ORPHA:361
Microform Holoprosencephaly
Maternal diabetes, Hypoplasia of penis, Panhypopituitarism, Renal agenesis, Hypothyroidism, Short... ORPHA:280200
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Dehydration OMIM:143880
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Severe postnatal growth retardation, Proportionate short stature, Hypothyroidism... ORPHA:391408
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Fetal pyelectasis OMIM:301058
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia, Hepatic... OMIM:602579
Dend Syndrome
Hyperglycemia, Dehydration ORPHA:79134
Central Diabetes Insipidus
Dehydration, Diabetes insipidus ORPHA:178029
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Dehydration, Precocious puberty, Intrauterine growth ... ORPHA:96191
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis OMIM:263520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Short stature, Multiple renal cysts, Cryptorchidism ORPHA:1166
Tuberous Sclerosis Complex
Abnormality of the kidney, Pancreatic endocrine tumor, Polycystic kidney dysplasia, Pheochromocyt... ORPHA:805
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Increased circulating renin level, Dehydration, Hyperaldosteronism OMIM:620126
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hepatomegaly, Dehydration OMIM:246450
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatocellular carcinoma, Hypothyroidis... ORPHA:231226
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Increased circulating renin level, Dehydration, Hyperaldosteronism OMIM:620125
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Type I diabetes mellitus, Hepatitis, Glomerulonephritis OMIM:304790
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Dystonia 28
Hypothyroidism, Precocious puberty, Short stature ORPHA:589618
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Short stature, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fib... OMIM:311200
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615109
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Enlarged kidney, Hepatocellular adenoma, Pancreatitis, He... ORPHA:79259
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis, Diabetes mellitus ORPHA:3198
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Short statur... OMIM:618440
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ... ORPHA:90794
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Duodenal Atresia
Annular pancreas, Polyhydramnios, Abnormality of the pancreas ORPHA:1203
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Short stature, Splenome... OMIM:613385
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology, Short stature OMIM:610883
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Diabetes mellitus, Abnormality of the thyroid gland, Abnormality of the endocrine... ORPHA:77296
Congenital Tufting Enteropathy
Cholestatic liver disease, Steatorrhea, Dehydration ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Hepatomegaly, Short stature OMIM:607906
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Hypothyroidism, Short stature ORPHA:2994
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Micropenis, Type II diabetes mellitus OMIM:606593
Familial Cold Urticaria
Hyperhidrosis, Dehydration ORPHA:47045
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Prolonged neonata... ORPHA:95715
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... ORPHA:363400
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature OMIM:619851
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Medullary nephrocalcinosis, H... ORPHA:363528
Fanconi-Bickel Syndrome
Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Glyco... OMIM:227810
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Podocyte foot process effacement, Proteinuria, Diffuse mesangial scler... OMIM:619609
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Hyperthyroidism OMIM:231690
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Jaundice, Hypothyroidism, Cholecystitis, Abnormality of the ... ORPHA:69665
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Coach Syndrome 1
Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Intrahepatic bile duct dila... OMIM:216360
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ... ORPHA:400
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h... OMIM:267010
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts, Abnormality o... ORPHA:1318
Omenn Syndrome
Hepatomegaly, Thyroiditis, Nephrotic syndrome, Hypothyroidism, Splenomegaly ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, R... OMIM:614922
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma,... ORPHA:231214
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph... ORPHA:289494
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Renal cy... ORPHA:79303
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Absent gallbladder, Diabetes m... OMIM:600001
Methimazole Embryofetopathy
Hypothyroidism, Hypospadias, Abnormality of the thyroid gland, Intrauterine growth retardation ORPHA:1923
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Prolonged neonatal j... OMIM:619377
Pyruvate Carboxylase Deficiency
Hepatomegaly, Dehydration, Growth delay, Hyperglycemia, Hypoglycemia ORPHA:3008
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Dehydration, Biliary cirrhosis, Hepatosplenom... OMIM:219700
Phelan-Mcdermid Syndrome
Hypohidrosis, Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Dehydration OMIM:602722
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis OMIM:619879
Cole Disease
Hyperglycemia OMIM:615522
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Dehydration ORPHA:230
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Delayed puberty, Decreased response to growth hormone stimulation test, Recurrent urinary tract i... OMIM:619234
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Hepatosplenomegaly, Short stature OMIM:619750
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat... OMIM:232220
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin le... OMIM:214700
Hypoparathyroidism, Proximal tubulopathy, Focal segmental glomerulosclerosis, Hypothyroidism, Sho... ORPHA:550
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... ORPHA:226313
Joubert Syndrome 20
Renal cyst OMIM:614970
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Hypothyroidism, Intrauterine growth retardation OMIM:617713
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Thyroiditis, Portal hypertension, Hypothyroidism, Hepatosplenomegaly, Typ... ORPHA:228426
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Ovarian carc... OMIM:158350
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Short stature, Nephrocalcinosis, Intrauterine growth retardation, Hypoglycemia OMIM:618005
Splenic abscess, Cholestasis, Dehydration, Peritonitis, Hypoglycemia ORPHA:810
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Postnatal growth retardation, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Severe intrau... ORPHA:508
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia OMIM:236500
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Acholic stools, Cholestasis, Bile duct pr... ORPHA:30391
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Short ... OMIM:208500
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis... OMIM:615415
Immunodeficiency 102
Hypothyroidism, Nodular regenerative hyperplasia of liver, Hepatomegaly OMIM:301082
Multifocal Atrial Tachycardia
Hypothyroidism, Cryptorchidism ORPHA:3282
Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Hyperhidrosis ORPHA:349
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
Hypothyroidism, Hepatomegaly, Splenomegaly ORPHA:79332
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Growth... ORPHA:99832
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Renal cyst, Proportionate short stature, Type I... ORPHA:488618
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Multiple re... OMIM:193300
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Hyperglycemia, Type II diabetes mellitus OMIM:615812
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Multicystic kidney dysplasia OMIM:618829
19P13.12 Microdeletion Syndrome
Hypospadias, Hypothyroidism, Precocious puberty, Intrauterine growth retardation, Cryptorchidism,... ORPHA:254346
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Jaundice, Hypothyroidism, Short s... ORPHA:95712
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, My... ORPHA:71212
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Short stature, Hydronephrosis, A... ORPHA:1834
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Microvesicular hepatic steatosis, Dehyd... ORPHA:275761
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Insulin resistance, Polycystic ovaries, Diabetes... ORPHA:528
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Short stature, Renal dysplasia, Micropenis OMIM:613091
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Hypercalciuria, ... ORPHA:99880
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resi... ORPHA:79086
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Polycystic kidney dysplasia, Vesicoureteral refl... ORPHA:567
Ogden Syndrome
Postnatal growth retardation, Enlarged kidney, Jaundice, Maternal diabetes, Macrovesicular hepati... OMIM:300855
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Elevated hepatic iron concentrati... ORPHA:300298
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased response to growth hormone... OMIM:618160
Congenital Short Bowel Syndrome
Steatorrhea, Dehydration OMIM:615237
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Short stature, Renal du... ORPHA:96169
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Absent nipple, Abnormality of the ureter, Re... OMIM:200980
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism ORPHA:88643
Meckel Syndrome, Type 2
Intrauterine growth retardation, Renal cyst, Bile duct proliferation OMIM:603194
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Adrenal hypoplasia, Intrauterine growth retardatio... OMIM:249000
14Q11.2 Microduplication Syndrome
Hypothyroidism ORPHA:261229
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Neonatal death, ... OMIM:124000
Cystinosis, Nephropathic
Delayed puberty, Hepatomegaly, Male hypogonadism, Primary hypothyroidism, Dehydration, Hypohidros... OMIM:219800
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea... ORPHA:143
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Multicystic kidney dysplasia, Renal cyst, Congenital hepatic fibrosis ORPHA:2031
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Abnormal pancreas morp... ORPHA:116
Martin-Probst Syndrome
Renal insufficiency, Hypoplastic nipples, Hypothyroidism, Short stature, Chordee, Proteinuria, Cr... OMIM:300519
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Isovaleric Acidemia
Dehydration OMIM:243500
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Jaundice, Dehydration, Growth delay, Intrauterine growth retardation, Hypoglycemia ORPHA:79282
Scorpion Envenomation
Pulmonary edema, Acute pancreatitis, Glycosuria, Hyperhidrosis, Hyperglycemia, Edema ORPHA:466677
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Poems Syndrome
Hepatomegaly, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency,... ORPHA:2905
Smith-Magenis Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Hypothyroidism, Precocious ... ORPHA:819
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism OMIM:236700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Lamellar Ichthyosis
Short stature, Dehydration ORPHA:313
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst OMIM:614175
Ring Chromosome 12 Syndrome
Breast hypoplasia, Glandular hypospadias, Hypothyroidism, Growth delay, Cryptorchidism ORPHA:1439
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio... OMIM:600740
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis, Nephrotic ran... ORPHA:1830
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Decreased testicular size, Absence of pubertal develop... ORPHA:398079
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Dehydration OMIM:251100
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Adrenocortical abnormality, Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Dehydration, Bil... ORPHA:2552
Birt-Hogg-Dube Syndrome 1