| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Increased circulat... |
OMIM:609698 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Severe postnatal growth retardation... |
OMIM:262700 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Pituitary dwarfism, Decreased response to growth hormone stimulation test, Growth... |
OMIM:262710 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... |
OMIM:620198 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatiti... |
OMIM:145001 |
| Wolfram-Like Syndrome |
|
Delayed puberty, Severe postnatal growth retardation, Diabetes mellitus, Primary gonadal insuffic... |
ORPHA:411590 |
| Congenital Atransferrinemia |
|
Hypothyroidism, Abnormality of the pancreas |
ORPHA:1195 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth retardation |
OMIM:601410 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... |
OMIM:617610 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Short stature, Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothy... |
OMIM:300123 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Dehydration, Hypothyroidism, Intrauterine growth retardation, Hyperglycemia, T... |
ORPHA:99886 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Short stature, Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... |
ORPHA:263458 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
| Mody |
|
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc... |
ORPHA:552 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes... |
OMIM:608600 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Short stature, Elevated circula... |
ORPHA:171706 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter, Growth delay |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter, Growth delay |
OMIM:274800 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Jaundice, Renal cortical cysts, Glycosuria, Ethylmalonic aciduria, H... |
OMIM:231680 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
| Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Hyperinsul... |
OMIM:262190 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemi... |
ORPHA:35878 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypothyroidism, Short stature, Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyr... |
OMIM:620211 |
| Thyroid Dyshormonogenesis 2A |
|
Goiter, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concen... |
OMIM:274500 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Cholestasis, Diabetes mellitus, Intrauterine growth retardation, Hyperglyc... |
OMIM:615710 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Postnatal growth retardation, Hypercholestero... |
OMIM:232700 |
| Familial Renal Glucosuria |
|
Enuresis, Recurrent urinary tract infections, Abnormal circulating insulin concentration, Glycosu... |
ORPHA:69076 |
| Bangstad Syndrome |
|
Polycystic ovaries, Abnormality of the parathyroid gland, Increased circulating cortisol level, I... |
ORPHA:1227 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Cryptorchidism, Hepatomegaly, Intrauterine growth retardation, Hypoglycemia |
OMIM:618958 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Diabetes mellitus, H... |
OMIM:610199 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperlipidemia, Short stature, Hyperinsulinemia |
ORPHA:329249 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Cholestasis, Pancreatic islet-cell hyperplasia, Postprandial hyperglycemia,... |
OMIM:246200 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Polycystic ovaries, Cirrhosis, Hyperinsulinemia, Hyperglycemia, Hypertriglycer... |
OMIM:604367 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Asplenia, Enlarged kidney, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Hyperglycemia |
OMIM:222100 |
| Joubert Syndrome 26 |
|
Micropenis, Central hypothyroidism, Short stature, Decreased response to growth hormone stimulati... |
OMIM:616784 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... |
ORPHA:453533 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Enteric Anendocrinosis |
|
Portal hypertension, Cholestatic liver disease, Dehydration, Type I diabetes mellitus |
ORPHA:83620 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... |
OMIM:262600 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Cryptorchidism, Microphallus, Testicular dysgenesis, Abnormality of thyroid... |
OMIM:615542 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... |
ORPHA:324575 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Abnorma... |
ORPHA:3032 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Thyroid Dyshormonogenesis 3 |
|
Goiter, Thyroid carcinoma, Compensated hypothyroidism, Increased T3/T4 ratio |
OMIM:274700 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... |
OMIM:618061 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Thyroid Dyshormonogenesis 6 |
|
Congenital hypothyroidism, Hypothyroidism |
OMIM:607200 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... |
OMIM:274300 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration, Ketotic hypoglycemia |
ORPHA:79159 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
| Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Diabetes insipidus, Short stature, Hypoplasi... |
ORPHA:95496 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... |
ORPHA:276608 |
| Femoral-Facial Syndrome |
|
Maternal diabetes, Polycystic kidney dysplasia, Cryptorchidism, Renal hypoplasia/aplasia, Short s... |
ORPHA:1988 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Neonatal hypoglycemia, Cryptorchidism, Adrenocortical cytomegaly, Nephrocal... |
OMIM:130650 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Pancreatitis, Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hepatic stea... |
ORPHA:79084 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Diabetes mellitus, Horseshoe... |
ORPHA:93111 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... |
ORPHA:276580 |
| Nephrotic Syndrome, Type 14 |
|
Proteinuria, Cryptorchidism, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney dise... |
OMIM:617575 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Mpdu1-Cdg |
|
Renal cortical cysts, Decreased response to growth hormone stimulation test, Decreased serum insu... |
ORPHA:79323 |
| Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hepatomegaly, Episodic hyperhi... |
ORPHA:276575 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentrati... |
OMIM:275100 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced circulating prolactin concentration, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:300888 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Parathyroid hypoplasia, Hydronephrosis, Severe postnatal growth reta... |
ORPHA:2237 |
| Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
| Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Multiple renal cysts, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
| Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Ketonuria, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Hypothyroidism, Intrauterine growth retardation, Short stature, Decreased response t... |
OMIM:618347 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, Renal insufficiency, Renal dysplasia, R... |
OMIM:615993 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal interstitial fibrosis, Enlarged kid... |
OMIM:619902 |
| Propionic Acidemia |
|
Dehydration, Pancreatitis, Hepatomegaly, Short stature, Hypoglycemia |
OMIM:606054 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Neonatal death, Renal cyst |
OMIM:614870 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Short stature, Hypothyroidism |
OMIM:275120 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Dehydration, Hepatomegaly, Splenomegaly |
ORPHA:79312 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise... |
ORPHA:85445 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Central hypothyroidism, Short stature, Thyroid hypop... |
OMIM:301035 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... |
OMIM:613095 |
| Mahvash Disease |
|
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating follicle stimulating hormone level, Isosexual precocious puberty, Short stat... |
OMIM:176400 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration, Recurrent hypoglycemia, Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepat... |
OMIM:212140 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Central hypothyroidism, Short stature, Abnormal thyroid-stimulating ho... |
OMIM:616113 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Dehydration, Hepatomegaly, Hypoglycemia |
OMIM:251000 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter, Growth delay |
OMIM:274400 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Dehydration, Neonatal insulin-dependent diabetes mellitus, Abnormality of the liver, Ce... |
ORPHA:1667 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Cryptorchidism, Decre... |
ORPHA:90791 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration, Hepatomegaly |
ORPHA:28 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Severe intrauterine growth retardation, Hyperglycemia, ... |
OMIM:609069 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Dehydration, Decreased circulating cortisol ... |
OMIM:300200 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Dehydration, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Int... |
ORPHA:99885 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Goiter, Increased circulating free T4 concentration, Impaired sens... |
OMIM:188570 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Renal insufficiency, Renal hypoplasia/aplasia, Short stature, ... |
ORPHA:261265 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Short stature, Nephrotic syndrome, Membranou... |
OMIM:618999 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration, Hypoglycemia |
ORPHA:289504 |
| Pendred Syndrome |
|
Goiter, Thyroid carcinoma, Compensated hypothyroidism |
OMIM:274600 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Multilamellation of medullar... |
OMIM:614377 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Ethylmalonic aciduria, Hepatomegaly, Glutaric aciduria, Acute pancre... |
ORPHA:26791 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... |
ORPHA:71526 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hepat... |
ORPHA:276556 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Dehydration, Hepatomegaly |
ORPHA:27 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Reduced circulating growth hormone concentration, Hypopituitarism, Jaundice, Impaired growth-horm... |
OMIM:613038 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resista... |
ORPHA:280356 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Abnormality of the kidney, Diabetes mellitus, Ureteropelvic junction o... |
OMIM:137920 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Decreased circulating free T4 concentration, Hypothyroidism, Ectopic thyroid, E... |
OMIM:225250 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... |
ORPHA:79644 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:616329 |
| Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver |
ORPHA:140976 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia |
OMIM:604484 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly |
OMIM:608776 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hepato... |
ORPHA:157 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| C Syndrome |
|
Renal cortical cysts, Cryptorchidism, Hepatomegaly, Short stature |
OMIM:211750 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... |
OMIM:614736 |
| Pendred Syndrome |
|
Goiter, Hyperparathyroidism, Nephropathy, Thyroid carcinoma, Hypothyroidism |
ORPHA:705 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
| Permanent Congenital Hypothyroidism |
|
Goiter, Jaundice, Thyroid dysgenesis, Short stature, Hypothyroidism |
ORPHA:226292 |
| Vipoma |
|
Elevated circulating growth hormone concentration, Dehydration, Intermittent jaundice, Adrenocort... |
ORPHA:97282 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Cryptorchidism, Hypogonadism, Renal cyst |
OMIM:615982 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hypothyroidism, Hashi... |
ORPHA:64744 |
| Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis |
ORPHA:791 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration, Increased circulating renin level, Abnormal circulating aldosterone, Glucocortocoid-... |
ORPHA:171876 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Polycystic ovaries, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Hypertrigl... |
OMIM:151660 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Delayed puberty, Cryptorchidism, Hypothyroidism, Recurrent hypoglycemia, Intrauterine growth reta... |
OMIM:616817 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Proteinuria, Increased serum testosterone level, Glycosuria, Postprandial h... |
ORPHA:2298 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Cystinosis |
|
Delayed puberty, Dehydration, Nephrogenic diabetes insipidus, Short stature, Portal hypertension,... |
ORPHA:213 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Delayed puberty, Short stature, Hypothyroidism, Type I diabetes mellitus, Exo... |
OMIM:615952 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Testicular atrophy, Joint swelling, Diabetes mellitus, Hepatomegaly, Ci... |
ORPHA:465508 |
| Insulinoma |
|
Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hypoglycemia, Reactive hypo... |
ORPHA:97279 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Hepatomegaly, Type I diabetes mellitus |
OMIM:560000 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Short stature, Hypothyroidism |
ORPHA:2349 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Testicular atrophy, Neurogenic bladder, Diabetes mellitus, Hydroureter, Hypothyro... |
OMIM:222300 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Dehydration, Insulin resistance |
OMIM:214150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Nonketotic hyp... |
OMIM:608836 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Elevated circulating growth hormone concentration, Pancreatic endocrine tumor, Renal angiomyolipo... |
OMIM:610755 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Type I diabetes mellitus |
OMIM:606176 |
| Li-Campeau Syndrome |
|
Hypothyroidism, Cryptorchidism, Short stature, Micropenis |
OMIM:619189 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Severe postnatal growth retardation, Cholestasis, Postprandial hypergl... |
ORPHA:440713 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Cryptorchidism, Hepatomegaly, In... |
OMIM:214110 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... |
OMIM:275200 |
| Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes ... |
ORPHA:2088 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
| Branchiootorenal Syndrome 1 |
|
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Unilateral renal agenes... |
OMIM:113650 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Periportal fibrosis |
OMIM:263210 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Hepatic agenesis, Penile hypospadias |
ORPHA:1692 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration, Increased circulating renin level, Decreased circulating aldosterone level, Growth d... |
OMIM:610600 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypohidrosis, Hypoparathyroidism, Renal insufficiency, Nephropathy, Short stature, Hypothyroidism |
ORPHA:1563 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal cyst, Hepatic fibrosis, Short stature, Renal hypoplasia, Hypos... |
OMIM:614091 |
| Trichohepatoenteric Syndrome 1 |
|
Renal cortical microcysts, Jaundice, Cholestasis, Galactosuria, Hepatic fibrosis, Hepatomegaly, I... |
OMIM:222470 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Intrauterine growth retardation, Hypergonadotropic hypogonadism |
OMIM:619737 |
| Potocki-Shaffer Syndrome |
|
Delayed puberty, Nephroblastoma, Micropenis, Hypothyroidism |
ORPHA:52022 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism |
ORPHA:752 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polycystic kidney dysplasia, Tubulointerstitial nephritis, Renal insufficiency, Hepatomegaly, Hep... |
ORPHA:228308 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Delayed puberty, Mild postnatal growth retardation, Abnormal liver parenchyma morphology, Diabete... |
ORPHA:456312 |
| Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hyperthyroidism, Hashimoto thyroiditis |
ORPHA:97285 |
| Perlman Syndrome |
|
Cryptorchidism, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
| Necrotizing Enterocolitis |
|
Peritonitis, Edema, Hyperglycemia, Abnormal glucose homeostasis, Ascites |
ORPHA:391673 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal cortical cysts, Supernumerary nipple, Rhizomelic leg shortening, Renal insufficiency, Short... |
ORPHA:397715 |
| Familial Thyroid Dyshormonogenesis |
|
Goiter, Positive perchlorate discharge test, Prolonged neonatal jaundice, Decreased circulating T... |
ORPHA:95716 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Growth delay |
OMIM:251850 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration, Increased circulating renin level, Abnormal circulating corticosterone level, Decrea... |
ORPHA:556030 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Bile duct proliferation, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Gro... |
OMIM:613027 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating parathyroid hormone level, Nephrocalcinosis, Asplenia, Chronic active hepat... |
OMIM:240300 |
| Athyreosis |
|
Hypothyroidism, Thyroid agenesis, Short stature, Growth delay |
ORPHA:95713 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Jaundice, Cryptorchidism, Renal cortical microcy... |
OMIM:614866 |
| Caroli Syndrome |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Abnormality of the kidney, Liver abscess, Int... |
ORPHA:480520 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Recurrent urinary ... |
ORPHA:731 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Cryptorchidism, Microphallus, Intrauterine growth retardation, Hypothyroidism, Postnatal growth r... |
ORPHA:397590 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Nephrocalcinosis, Renal cyst, Hypothyroidism, Renal insufficiency, Hepatic... |
ORPHA:445038 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Proteinuria, Neonatal hypoglycemia, Glycosuria, Renal Fanconi syndrome, Pan... |
ORPHA:263455 |
| Ascher Syndrome |
|
Goiter, Hypothyroidism |
ORPHA:1253 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ... |
OMIM:615925 |
| Estrogen Resistance |
|
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Polycystic ... |
OMIM:615363 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypothyroidism |
ORPHA:2118 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Dehydration, Hypoglycemia, Growth delay |
OMIM:615453 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Diabetes mellitus, Intrauterine growth retardation, Congenital hypothyroidism, Mi... |
OMIM:614613 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Renal insufficiency |
OMIM:615986 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Renal cortical microcysts, Hydronephrosis, Adrenal hypoplasia, Cryptorchidism, Albuminuria, Hepat... |
OMIM:214100 |
| Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Diabetes mellitus, Hepatic bridging fibrosis, Increased ci... |
ORPHA:139507 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Distal Triplication 15Q |
|
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... |
ORPHA:314588 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Chronic hepatitis, Hyperthyroidism, Cirrhosis, Hepatitis, Type II diabetes mel... |
OMIM:269200 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Decreased gl... |
ORPHA:730 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypopituitarism, Hypercholesterolemia, Hypothyroidism |
ORPHA:90065 |
| Beta-Ketothiolase Deficiency |
|
Dehydration, Edema, Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
| Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Liver abscess, Intrahepatic cholestasis, Chol... |
ORPHA:53035 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Impaired glucose tolerance, Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Growth... |
OMIM:248370 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypogonadism, Abnormality of the liver, D... |
ORPHA:231222 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Distal Deletion 12Q |
|
Polycystic kidney dysplasia, Hydronephrosis, Micropenis, Diabetes mellitus, Ectopic kidney, Short... |
ORPHA:96149 |
| Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
| Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Dehydration, Polyhydramnios, Rhizomelia, Intrauterine growth retardation, ... |
OMIM:616271 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Mesomelic short stature, Short stature, Nephronophthisis |
OMIM:184260 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Gly... |
OMIM:614817 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Trisomy 17P |
|
Polycystic kidney dysplasia, Hydronephrosis, Intrauterine growth retardation, Short stature, Hypo... |
ORPHA:261290 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Diabetes mellitus, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pl... |
OMIM:167800 |
| Short Syndrome |
|
Intrauterine growth retardation, Birth length less than 3rd percentile, Hyperglycemia, Glucose in... |
OMIM:269880 |
| Secondary Short Bowel Syndrome |
|
Dehydration, Central hypothyroidism, Cholestasis, Steatorrhea, Growth delay, Primary hypothyroidism |
ORPHA:95427 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Short stature, Hypothyroidism |
OMIM:618625 |
| Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Nephrocalci... |
ORPHA:769 |
| Solitary Fibrous Tumor |
|
Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypoinsulinemia, Hy... |
ORPHA:2126 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy |
ORPHA:1909 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Diabetes mellitus, Hypothyroidism, Hepatic fibrosis, Hepatomegaly, Short stature... |
OMIM:616263 |
| Nephrotic Syndrome, Type 1 |
|
Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Hypothyroidism, Renal insufficie... |
OMIM:256300 |
| Pearson Marrow-Pancreas Syndrome |
|
Dehydration, Hydrops fetalis, Steatorrhea, Hepatomegaly, Macronodular cirrhosis, Pancreatic fibro... |
OMIM:557000 |
| Pearson Syndrome |
|
Dehydration, Hypoplastic spleen, Glycosuria, Abnormality of the liver, Diabetes mellitus, Hypopar... |
ORPHA:699 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Polycystic ovaries, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ectopic kidney, Hepatomegaly, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Mpi-Cdg |
|
Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Short stature, Neonat... |
OMIM:613390 |
| Thyroid Hypoplasia |
|
Jaundice, Short stature, Growth delay, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
| Arima Syndrome |
|
Polycystic kidney dysplasia, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Tubulointerstitial nephritis, Multinodular goiter, Renal insufficiency,... |
OMIM:203800 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Graves disease, Abnormality of the thyroid gland, Hypogonadism, Hashimoto thyroiditis, Hypoparath... |
ORPHA:3143 |
| Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism |
OMIM:617577 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement mem... |
OMIM:613159 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Intrauterine growth retardation, Decreased response to growth hormone stimul... |
ORPHA:96179 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased serum estrad... |
ORPHA:66628 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Diabetes mellitus, Congenital hepatic fibrosis, Hyp... |
ORPHA:79230 |
| Dysbetalipoproteinemia |
|
Diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Renal ste... |
ORPHA:412 |
| Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria, Hypertonic dehydration |
OMIM:606824 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Dehydration, Edema, Recurrent hypoglycemia, Nonketotic hypoglycemia, Hepatomegaly, Acut... |
ORPHA:20 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Neon... |
ORPHA:289548 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Intrauterine growth retardat... |
OMIM:260370 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Neon... |
ORPHA:168558 |
| 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 |
|
Jaundice, Cholestatic liver disease, Dehydration, Nephrogenic diabetes insipidus, Giant cell hepa... |
OMIM:208085 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Short sta... |
OMIM:612462 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Abnormality of the liver, Hepatic fibrosis... |
ORPHA:84064 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased serum estrad... |
ORPHA:179494 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypopituitarism, Short stature, Hepatic steatosis, Hypothyroidism |
OMIM:619013 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Pancreatitis, Delayed menarche, Type II diabetes mellitus, Hypothyroidism, Type I d... |
ORPHA:412057 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Glucose intolerance, Growth delay, Insulin-resis... |
OMIM:608612 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:613970 |
| Tropical Pancreatitis |
|
Maternal diabetes, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreati... |
ORPHA:103918 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Lig4 Syndrome |
|
Cryptorchidism, Hypothyroidism, Hepatomegaly, Hypoplasia of penis, Type II diabetes mellitus, Gro... |
ORPHA:99812 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Cholestasis, Hepatomegaly, Intrauterine growth retardation, Decreased circulating... |
OMIM:608104 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Cryptorchidism, Renal insufficiency, Short stature, Hypoplasia of penis, Renal dysplasia, Hypothy... |
ORPHA:85321 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperactive renin-angiotensin system, Dehydration, Pseudohypoaldosteronism |
OMIM:264350 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Recurrent urinary tract infections, Proteinuria, Micropenis, Stage 5 chronic ... |
OMIM:619487 |
| Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retardation, Short stature, Decr... |
OMIM:609053 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hypergonadotropic hypogonadism, Increased level of galactitol in urine, Hyperinsuli... |
ORPHA:79237 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Renal cyst |
OMIM:605231 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Goiter, Prolonged neonatal jaundice, Decreased circulating T4 concentration, Decreased thyroid-st... |
ORPHA:95715 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Congenital hypothyroidism, Decreased response to growth hormone stimulation ... |
OMIM:601427 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Dehydration |
ORPHA:33355 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Re... |
OMIM:603860 |
| Ddost-Cdg |
|
Short stature, Primary hypothyroidism, Hepatic steatosis, Nephrotic range proteinuria |
ORPHA:300536 |
| Dilated Cardiomyopathy With Ataxia |
|
Perineal hypospadias, Neonatal hypoglycemia, Hypothyroidism, Intrauterine growth retardation, Hyp... |
ORPHA:66634 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Cryptorchidism, Growth delay |
OMIM:619908 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Decreased testicular size, Elevated circulating follicle stimulating hor... |
OMIM:612885 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Micropenis, Diabetes mellitus, Ectopic kidney, Unilateral renal agenesis, Intraut... |
OMIM:616541 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism, Intrauterine growth retardation |
ORPHA:96183 |
| Short Rib-Polydactyly Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Multiple glomerular cysts, Abnormality of... |
ORPHA:1505 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Increased circulating renin level, Growth d... |
OMIM:203400 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Dehydration, Increased circulating renin level, Hyperactive renin-angiotensin... |
OMIM:177735 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased T3/T4 ratio, Congenital hypothyroidism, Impaired sensitivity to thyroid hormone, Growth... |
OMIM:614450 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Short stature, Hypoplasia of penis |
ORPHA:2491 |
| Cowden Syndrome 5 |
|
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... |
OMIM:615108 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Short sta... |
OMIM:103580 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Hypothyroidism |
ORPHA:391372 |
| Autosomal Agammaglobulinemia |
|
Hepatitis, Dehydration |
ORPHA:33110 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... |
ORPHA:785 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Impaired sensitivity to thyroid stimulating hormone, Compensated hypothyroidism, Prolonge... |
ORPHA:90673 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration, Decreased circulating parathyroid hormone level |
OMIM:143880 |
| Microform Holoprosencephaly |
|
Maternal diabetes, Intrauterine growth retardation, Short stature, Hypoplasia of penis, Hypothyro... |
ORPHA:280200 |
| Congenital Hypothyroidism |
|
Goiter, Thyroid dysgenesis, Abnormality of the thyroid gland, Hypogonadism, Short stature, Prolon... |
ORPHA:442 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Delayed puberty, Severe postnatal growth retardation, Diabetes mellitus, Intrauterine growth reta... |
ORPHA:391408 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Dehydration, Neonatal insulin-dependent diabetes mellitus, Hepatomegaly, Intraute... |
ORPHA:96191 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hepatic fibrosis, Micropenis, Pancreatic fibrosis |
OMIM:263520 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Proximal tubulopathy, Hyperinsulinemic hyp... |
OMIM:602579 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration, Increased circulating renin level |
OMIM:620126 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia, Short stature, Vesicoureteral reflux |
ORPHA:1166 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism, Fetal pyelectasis |
OMIM:301058 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst |
OMIM:614815 |
| Alagille Syndrome 2 |
|
Proteinuria, Cholestatic liver disease, Renal cyst, Cholestasis, Renal insufficiency, Hematuria, ... |
OMIM:610205 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration, Increased circulating renin level |
OMIM:620125 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Dehydration |
ORPHA:178029 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Parathyroid carcinoma, Increased circulating cortisol level, Insulinoma, Increased serum... |
ORPHA:652 |
| Cowden Syndrome 6 |
|
Goiter, Hyperthyroidism, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Thyroid... |
OMIM:615109 |
| Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Recurrent urinary tract infections, Decreased circulating dehydroe... |
ORPHA:361 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Glomerulonephritis, Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Dend Syndrome |
|
Hyperglycemia, Dehydration |
ORPHA:79134 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration |
OMIM:603373 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Hypopituitarism, Hepatocellular carcinoma, Jaundice, Delayed puberty, Chronic... |
ORPHA:231226 |
| Tuberous Sclerosis Complex |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Renal cell carcinoma, Stage 5 chronic kid... |
ORPHA:805 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia |
OMIM:615935 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypohidrosis, Short stature, Hypothyroidism |
ORPHA:1882 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Hepatocellular adenoma, Nephrocalcinosis,... |
ORPHA:79259 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Cryptorchidism, Decreased glomerular filtration rate, Glycosu... |
ORPHA:97362 |
| Joubert Syndrome 5 |
|
Renal cortical cysts, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiat... |
OMIM:610188 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increased circulating... |
ORPHA:90794 |
| Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria, Hepatic fibrosis, Short stature, Ovarian cyst, Pancreat... |
OMIM:311200 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Short stature, Hypothyroidism |
OMIM:607906 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Insulin resis... |
ORPHA:363400 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Dystonia 28 |
|
Short stature, Precocious puberty, Hypothyroidism |
ORPHA:589618 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
| Congenital Tufting Enteropathy |
|
Steatorrhea, Cholestatic liver disease, Dehydration |
ORPHA:92050 |
| Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Delayed puberty, Short stature, Hypothyroidism |
ORPHA:2994 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Cryptorchidism, Hepatomegaly, Short stature, Hypercalciuria, Renal agenesi... |
OMIM:618440 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... |
OMIM:613239 |
| Glutaric Aciduria Iii |
|
Goiter, Hyperthyroidism, Glutaric aciduria |
OMIM:231690 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Lig4 Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism |
OMIM:606593 |
| Intellectual Disability-Strabismus Syndrome |
|
Cryptorchidism, Hypohidrosis, Micropenis, Intrauterine growth retardation, Short stature, Decreas... |
ORPHA:363528 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Congenital hypothyroidi... |
OMIM:619609 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism |
OMIM:619851 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothy... |
ORPHA:77296 |
| Thyroid Ectopia |
|
Jaundice, Abnormality of the thyroid gland, Hypothyroidism, Short stature, Ectopic thyroid, Growt... |
ORPHA:95712 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal cyst, Renal insufficiency, Hepatomegaly, Neonatal death, Renal dysplasia, Stillbirth, Hepat... |
OMIM:614922 |
| Potocki-Lupski Syndrome |
|
Abnormal renal morphology, Short stature, Hypothyroidism |
OMIM:610883 |
| Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Renal cyst, Hepatic fibrosis, Hepatomegaly, Nephronophthisis, Cir... |
OMIM:216360 |
| Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Intrahepatic cholestasis, Glycosuria, Postprandial hyperglycemia, Hepatomeg... |
OMIM:227810 |
| Duodenal Atresia |
|
Polyhydramnios, Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
| Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Multiple glomerular cysts, Stage 5 chronic kidney disease, Cholestasis, Bile ... |
OMIM:267010 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hashimoto thyroiditis, Hepatomegaly, Short stature, Hepatitis, Portal hypertension, Hypersplenism... |
OMIM:613385 |
| Campomelia, Cumming Type |
|
Multiple renal cysts, Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Multicystic ki... |
ORPHA:1318 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Goiter, Prolonged neonatal jaundice, Decreased circulating T4 concentration, Elevated circulating... |
ORPHA:226313 |
| Omenn Syndrome |
|
Hepatomegaly, Nephrotic syndrome, Hypothyroidism, Thyroiditis, Splenomegaly |
ORPHA:39041 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Hypopituitarism, Hepatocellular carcinoma, Jaundice, Delayed puberty, Diabete... |
ORPHA:231214 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Intrauterine growth retardation, Ve... |
ORPHA:2470 |
| Pyruvate Carboxylase Deficiency |
|
Dehydration, Hepatomegaly, Hyperglycemia, Growth delay, Hypoglycemia |
ORPHA:3008 |
| Phelan-Mcdermid Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Vesicoureteral reflux, Hypohidrosis |
OMIM:606232 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Short stature, Decreased... |
OMIM:613986 |
| Methimazole Embryofetopathy |
|
Hypothyroidism, Intrauterine growth retardation, Abnormality of the thyroid gland, Hypospadias |
ORPHA:1923 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular fil... |
OMIM:232220 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Dehydration, Hyperinsulinemia |
ORPHA:230 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Renal cyst, Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Giant cell hepatiti... |
ORPHA:79303 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration, Growth delay |
OMIM:602722 |
| 4H Leukodystrophy |
|
Delayed puberty, Short stature, Decreased response to growth hormone stimulation test, Abnormalit... |
ORPHA:289494 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Dehydration, Increased circulating renin level, Polyhydramnios, Hyperactive r... |
OMIM:214700 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Recurrent urinary tract infections, Delayed puberty, Hypothyroidism, Short stature, Decreased res... |
OMIM:619234 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Hepatic fibrosis |
OMIM:619879 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Melas |
|
Proteinuria, Recurrent pancreatitis, Diabetes mellitus, Hypoparathyroidism, Nephropathy, Short st... |
ORPHA:550 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hyperhidrosis, Hypothyroidism |
ORPHA:3198 |
| Cowden Syndrome 1 |
|
Goiter, Hyperthyroidism, Ovarian carcinoma, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypo... |
OMIM:158350 |
| Osteootohepatoenteric Syndrome |
|
Dehydration, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Portal fibrosis, Microve... |
OMIM:619377 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Short stature, Hypothyroidism |
OMIM:619750 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus, Hypercholesterolemia |
OMIM:615812 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Glycosuria, Diabetes mellitus, Intrauterine growth retardation, Hyperglyce... |
OMIM:600001 |
| Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Multicystic kidney dysplasia, Malformati... |
OMIM:607361 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Jaundice, Abnormality of the pancreas, Cholecystitis, Hypoth... |
ORPHA:69665 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Intrauterine growth retardation, Short stature, Hypothyroidism, Hypoglycemia |
OMIM:618005 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hepatic fibrosis, Short stature, Nephrotic... |
ORPHA:110 |
| Leprechaunism |
|
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... |
ORPHA:508 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Nephrotic syndrome, Intrauterine growth retardation, Hypothyroidism |
OMIM:617713 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stillbirth, Cystic renal ... |
OMIM:615415 |
| Shigellosis |
|
Peritonitis, Dehydration, Cholestasis, Splenic abscess, Hypoglycemia |
ORPHA:810 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis, Bile duct proliferation, He... |
OMIM:208500 |
| Tropical Calcific Pancreatitis |
|
Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas,... |
OMIM:608189 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Hashimoto thyroiditis, Hypothyroidism |
ORPHA:83601 |
| Immunodeficiency 102 |
|
Hepatomegaly, Nodular regenerative hyperplasia of liver, Hypothyroidism |
OMIM:301082 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
| Isolated Biliary Atresia |
|
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... |
ORPHA:30391 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Goiter, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Decreased cir... |
ORPHA:99832 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Renal cell carcinoma, Neoplasm of the pancreas, Pheochromocytoma, Multiple re... |
OMIM:193300 |
| Transketolase Deficiency |
|
Renal cyst, Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Type I... |
ORPHA:488618 |
| Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:324737 |
| Cystic Fibrosis |
|
Hepatosplenomegaly, Dehydration, Pancreatitis, Steatorrhea, Hepatomegaly, Cirrhosis, Biliary cirr... |
OMIM:219700 |
| B4Galt1-Cdg |
|
Hepatomegaly, Splenomegaly, Hypothyroidism |
ORPHA:79332 |
| Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Renal cyst, Malformation of the hepatic ductal plate |
OMIM:614175 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydronephrosis, Renal cyst, Abnormality of the liver, Abnormality of the ureter, Renal hypoplasia... |
ORPHA:1834 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Cholangitis, Cirrhosis, Hepatitis, Portal hypertension, Hypersplenism, Hypoth... |
ORPHA:228426 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gallbladder, Intraute... |
OMIM:601346 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Fasting hyperinsulinemia, Myoglobinuria, Hypoglycemic seizures, Dicarboxyl... |
ORPHA:71212 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypothyroidism |
OMIM:618829 |
| Fucosidosis |
|
Mucopolysacchariduria, Hepatomegaly, Hyperhidrosis, Hypothyroidism, Abnormality of the gallbladder |
ORPHA:349 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Goiter, Thyroid agenesis, Hypothyroidism, Ectopic thyroid, Decreased circulating T4 concentration... |
OMIM:218700 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Polycystic ovaries, Precocious puberty in females, Hyperinsulinemia, Insulin r... |
ORPHA:528 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal hamartoma, Nephrocalcinosis, Renal cyst, Elevated circulating parathyroid hormone level, Pa... |
ORPHA:99880 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Jaundice, Dehydration, Steatorrhea, Hepatic fibrosis, Adrenal calcification, ... |
ORPHA:275761 |
| Acquired Generalized Lipodystrophy |
|
Polycystic ovaries, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia, Acute pancre... |
ORPHA:79086 |
| 19P13.12 Microdeletion Syndrome |
|
Cryptorchidism, Precocious puberty, Intrauterine growth retardation, Hepatic steatosis, Hypothyro... |
ORPHA:254346 |
| Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic fib... |
OMIM:604387 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Hypogonadism, Hypothyroidism, Adrenal insufficiency, Growth delay, Elevated h... |
ORPHA:300298 |
| Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Adrenal hypoplasia, Cryptorchidism, Asplenia, Hypoplasia of the blad... |
OMIM:249000 |
| Koolen-De Vries Syndrome |
|
Hydronephrosis, Cryptorchidism, Renal duplication, Hypothyroidism, Short stature, Ureteral duplic... |
ORPHA:96169 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Postnatal growth retardation, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Enlarged kidney, Short stature, Renal dysplasia |
OMIM:613091 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Cryptorchidism, Vesicoureteral reflux, Hyp... |
ORPHA:567 |
| Congenital Short Bowel Syndrome |
|
Steatorrhea, Dehydration |
OMIM:615237 |
| Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Intrauterine growth retardation, Renal cyst |
OMIM:603194 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Maternal diabetes, Jaundice, Cryptorchidism, Decreased testicular size... |
OMIM:300855 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Intrauterine growth retardation, Absent n... |
OMIM:200980 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration, Hepatomegaly |
OMIM:251110 |
| Parathyroid Carcinoma |
|
Renal hamartoma, Parathyroid carcinoma, Nephrocalcinosis, Renal cyst, Elevated circulating parath... |
ORPHA:143 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Cholestasis, Recurrent hypoglycemia, Periportal fibrosis, Neonatal death, Hyperglyce... |
OMIM:124000 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Hypohidrosis, Dehydration, Glycosuria, Diabetes mellitus, Hepatomegaly, Short st... |
OMIM:219800 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism |
ORPHA:88643 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Dehydration, Hydrops fetalis, Intrauterine growth retardation, Growth delay, Hypoglycemia |
ORPHA:79282 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst |
ORPHA:2031 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Enlarged kidney, Multiple renal cysts, Hepatomegaly, Hypothyroidism, Nephr... |
ORPHA:116 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema |
ORPHA:103910 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Martin-Probst Syndrome |
|
Proteinuria, Cryptorchidism, Micropenis, Hypoplastic nipples, Renal insufficiency, Short stature,... |
OMIM:300519 |
| Prune Belly Syndrome |
|
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Hydroureter, Abnor... |
ORPHA:2970 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... |
ORPHA:1475 |
| Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Abnormality of the thyroid gland, Megacystis, Hypoparathyroidism, Compensated... |
ORPHA:209905 |
| Scorpion Envenomation |
|
Edema, Glycosuria, Hyperglycemia, Acute pancreatitis, Pulmonary edema, Hyperhidrosis |
ORPHA:466677 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Central hypothyroidism, Abse... |
ORPHA:398079 |
| Smith-Magenis Syndrome |
|
Delayed puberty, Abnormality of the ureter, Renal hypoplasia/aplasia, Short stature, Hypothyroidi... |
ORPHA:819 |
| Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Breast hypoplasia, Growth delay, Glandular hypospadias, Hypothyroidism |
ORPHA:1439 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Renal insufficiency, Hypocalciuria, Multiple small medullary renal cysts, Nephrolit... |
OMIM:600740 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Hypohidrosis, Increased circulating prolactin concentration, Central hypothyroid... |
ORPHA:293987 |
| X-Linked Acrogigantism |
|
Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, Abnormality ... |
ORPHA:300373 |
| Femoral-Facial Syndrome |
|
Maternal diabetes, Polycystic kidney dysplasia, Cryptorchidism, Abnormal renal collecting system ... |
OMIM:134780 |
| Lamellar Ichthyosis |
|
Dehydration, Short stature |
ORPHA:313 |
| Schimke Immuno-Osseous Dysplasia |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Pancreatitis, Disproportionat... |
ORPHA:1830 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst |
OMIM:611773 |
| Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Hajdu-Cheney Syndrome |
|
Polycystic kidney dysplasia, Cryptorchidism, Renal cyst, Short stature, Hypospadias |
OMIM:102500 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
