Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... |
ORPHA:64744 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Hypoglycemia, ... |
OMIM:232220 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... |
OMIM:615710 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea... |
OMIM:167800 |
RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Abnormality of the liver |
DECIPHER:47 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus |
ORPHA:676 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Diabetes mellitus, Delayed pube... |
OMIM:616263 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... |
OMIM:232240 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Punctate keratitis, Type I diabetes mellitus, Steatorrhea, Pancre... |
OMIM:557000 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Pineal cyst, Hepatic steatosis, Diabetes mellitus, Cholecystitis, Hepatomegaly |
ORPHA:98908 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Reduced circulating growth hormone concentration, Decreased serum in... |
OMIM:262400 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, High palate, Diabetic ketoacidosis, Hypoglycemia, Postprand... |
OMIM:262190 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis |
OMIM:619386 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Cholestasis, ... |
OMIM:246200 |
African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Jaundice, Nephritis, Polycystic liver disease, Bile duct prol... |
OMIM:208500 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insul... |
ORPHA:435651 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... |
ORPHA:324575 |
Pearson Syndrome |
|
Hypothyroidism, Abnormality of the liver, Decreased response to growth hormone stimulation test, ... |
ORPHA:699 |
Perlman Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, High, narrow palate |
ORPHA:2849 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Pneumonia, Fasting hyperinsulinemia, Glucose in... |
ORPHA:2298 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic in... |
OMIM:615935 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... |
ORPHA:276556 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia |
OMIM:609069 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly |
OMIM:243300 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Intestinal malrotation, Microglossia, Pancreatic fibrosis, Cleft palate, Hamart... |
OMIM:263520 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Acholic stools, Cholestatic liver ... |
ORPHA:65682 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Accessory sple... |
ORPHA:564 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Neonatal insulin-de... |
OMIM:260370 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinem... |
ORPHA:97279 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... |
ORPHA:293964 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Hurthle cell thyroid aden... |
OMIM:145001 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... |
ORPHA:90970 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... |
OMIM:151660 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... |
OMIM:600803 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Pneumonia, Pancreatitis |
ORPHA:70578 |
Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Diabetes melli... |
ORPHA:79083 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Abnormal intestine morphology, Hypoglycemia |
OMIM:606528 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... |
OMIM:615363 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Arthritis, Cholangiocarcinoma, Hepatocellular carcinoma, Testicular at... |
ORPHA:465508 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
OMIM:618805 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Hepat... |
ORPHA:2348 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis, Hepatomegaly |
OMIM:251000 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Portal inflammati... |
OMIM:603471 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
Hemochromatosis Type 2 |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Hypogonadism, Congenital hepatic... |
ORPHA:79230 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypoinsulinemia, Recurrent hy... |
ORPHA:2126 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Central diabetes insipidus, Dia... |
ORPHA:411590 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... |
ORPHA:79086 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Retrobulbar optic neuritis, Hypergonadotropic hypogonadism |
OMIM:619737 |
Propionic Acidemia |
|
Hypoglycemia, Eczema, Pancreatitis, Hepatomegaly |
OMIM:606054 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly |
ORPHA:289916 |
Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... |
OMIM:617253 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... |
OMIM:606069 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Splenomegaly, Hepatomegaly |
ORPHA:79312 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Hypogonadism, Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus,... |
ORPHA:412057 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Hyperinsulinemic hypoglyce... |
ORPHA:263455 |
Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Neoplasm of the pancreas, Stomatitis, Diabetes mellitus, Abnormal bilia... |
ORPHA:438274 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis |
ORPHA:391673 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Gout, Hypoglycemia, Delayed puberty, Hepatomegaly, Fasting hypoglycemia... |
OMIM:232200 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Porta... |
ORPHA:440713 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly |
ORPHA:27 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diabet... |
ORPHA:444490 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Ovarian cyst, Glucose int... |
OMIM:269880 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Dysbetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Gout, Hepatomegaly |
ORPHA:412 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Fasting hypoglycemia, Fur... |
ORPHA:769 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma |
OMIM:145980 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, High palate, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intole... |
OMIM:608612 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Decreased testicular size, Type II diabetes mellitus, Polycystic ovaries, Hyper... |
ORPHA:3085 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypogly... |
ORPHA:276152 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Abnormal testis morphology, Hypogonadism |
ORPHA:791 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Colitis, Pancreatitis |
OMIM:615947 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly |
ORPHA:75563 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Ulcerative colitis, Anal fissure, Hepatosplenom... |
OMIM:618935 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Colon perforation, Glycosuria, Microc... |
OMIM:600001 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, High palate, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, H... |
OMIM:248370 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hepatomegaly |
ORPHA:134 |
Acth Deficiency, Isolated |
|
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... |
OMIM:201400 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, Decre... |
ORPHA:280365 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Pancreatitis |
ORPHA:188 |
Microscopic Polyangiitis |
|
Skin rash, Arthritis, Uveitis, Pericarditis, Sinusitis, Episcleritis, Peritonitis, Increased infl... |
ORPHA:727 |
Rat-Bite Fever |
|
Lymphadenitis, Septic arthritis, Endocarditis, Oligoarthritis, Maculopapular exanthema, Erythema ... |
ORPHA:31205 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidis... |
ORPHA:562 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Diabetes mellitus, Delayed puberty, Hepatomeg... |
ORPHA:456312 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Legionnaires Disease |
|
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Pericarditis, Infectious encephalitis, Myocardit... |
ORPHA:549 |
Tenorio Syndrome |
|
Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Macroglossia, Recurrent pneumonia, Hyp... |
OMIM:616260 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Hepatomegaly, Pancreatitis |
ORPHA:565612 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatosplenomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatomegaly |
ORPHA:79237 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pan... |
ORPHA:48818 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Protein-losing ent... |
ORPHA:79319 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Hypoglycemia, Bile duct proliferation, Hepatomegal... |
OMIM:613027 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, High palate, Pancreatitis |
OMIM:236200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, D... |
OMIM:608594 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Jaundice, Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm |
ORPHA:370348 |
Feingold Syndrome |
|
Abnormality of the spleen, Duodenal atresia, Esophageal atresia, Annular pancreas |
ORPHA:1305 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Cholelithiasis, Abnormality of the ductus choledochus, Gallblad... |
ORPHA:521219 |
17Q12 Microdeletion Syndrome |
|
Diabetes mellitus, Pancreatic aplasia, Cryptorchidism |
ORPHA:261265 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hepatic periportal necrosis, Hepatomegaly, Hypoglycemia |
ORPHA:26791 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Celiac disease, Hepatomegaly, S... |
ORPHA:171 |
Microsporidiosis |
|
Prostatitis, Biliary tract abnormality, Myositis, Pneumonia, Lymphadenitis, Endocarditis, Osteomy... |
ORPHA:2552 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Cholangitis, Abnormality of the ... |
ORPHA:449432 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas,... |
ORPHA:93111 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Enterocolitis, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative c... |
ORPHA:79259 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Pancreatitis, Delaye... |
ORPHA:247585 |
Familial Adenomatous Polyposis |
|
Hypothyroidism, Adenocarcinoma of the small intestine, Cholangiocarcinoma, Hepatoblastoma, Papill... |
ORPHA:733 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Insulin resistance, Macroglossia, Hep... |
ORPHA:528 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
Caroli Syndrome |
|
Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarcinoma, Chola... |
ORPHA:480520 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis,... |
OMIM:124000 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceu... |
OMIM:131100 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Insulin resistance, Increased circu... |
ORPHA:508 |
Zygomycosis |
|
Endocarditis, Enterocolitis, Infectious encephalitis, Colon perforation, Hepatitis, Fasciitis, Il... |
ORPHA:73263 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... |
ORPHA:300373 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Scorpion Envenomation |
|
Hyperhidrosis, Glycosuria, Acute pancreatitis, Hyperglycemia, Myocarditis |
ORPHA:466677 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Nonketotic hypoglycemia, Acute pancreatitis, Recurrent hypoglycemia, Hepatomegaly, Lipi... |
ORPHA:20 |
Cystic Fibrosis |
|
Meconium ileus, Cirrhosis, Biliary cirrhosis, Bronchiectasis, Chronic sinusitis, Steatorrhea, Hep... |
OMIM:219700 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Cirrhosis, Villous atrophy, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatom... |
OMIM:602579 |
Familial Mediterranean Fever |
|
Splenomegaly, Malabsorption, Skin rash, Arthritis, Erysipelas, Pericarditis, Intestinal obstructi... |
ORPHA:342 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Acute pancreatitis, Maculopapular exanthema |
ORPHA:319218 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... |
ORPHA:210122 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Peptic ulcer, Parathyroid adenoma, Thyroid carcinoma, Abnormality of t... |
ORPHA:99880 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Visceral Myopathy 1 |
|
Megaduodenum, Aganglionic megacolon, Microcolon, Pancreatitis, Intestinal pseudo-obstruction |
OMIM:155310 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormal intestine morphology, Minimal change glomerulonephritis, Pancreatitis, Abnormality of th... |
ORPHA:1830 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Thyroid carcinoma, Abnormality of the parathyroid morpho... |
ORPHA:143 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hepatomegaly |
ORPHA:3008 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased res... |
OMIM:203800 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Chilblains, Hepatosplenomegaly, Hepatic steatosis, Pericarditis... |
OMIM:619487 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Bilateral cryptorchidism, Pancreatitis |
OMIM:619471 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance |
OMIM:617885 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogenic pancreas |
OMIM:617941 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia, High palate, Neonatal insulin-dependent diabetes mellitus |
ORPHA:556955 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Melas |
|
Recurrent pancreatitis, Hypothyroidism, Type II diabetes mellitus, Type I diabetes mellitus, Diab... |
ORPHA:550 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
High palate, Allergic rhinitis, Eczema, Decreased serum insulin-like growth factor 1, Annular pan... |
OMIM:618162 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Pancreatitis |
ORPHA:449427 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... |
ORPHA:293987 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Glycosuria, Type II diabetes mellitus... |
ORPHA:79474 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Intussusception, Peritonitis, Acute colitis, Pancreatiti... |
ORPHA:90038 |
Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Septic arthritis, Myocarditis, Intussusception, Diabetes mellitus, Pneumo... |
ORPHA:544482 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Sialadenitis, Retroperitoneal fibrosis, Prostatitis, Thyro... |
ORPHA:449563 |
Atelosteogenesis Type I |
|
Cleft palate, Abnormal pancreatic duct morphology, Malrotation of colon |
ORPHA:1190 |
Coccidioidomycosis |
|
Abnormality of the liver, Osteomyelitis, Folliculitis, Erythema nodosum, Skin rash, Peritonitis, ... |
ORPHA:228123 |
Behçet Disease |
|
Endocarditis, Splenomegaly, Recurrent aphthous stomatitis, Malabsorption, Arthritis, Keratoconjun... |
ORPHA:117 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Hypothyroidism, High palate, Macroglossia, Steatorrhea, Recurrent otitis ... |
OMIM:618268 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Impaired glucose tolerance, Glycosuria, Biliary tract abnormality, Maturit... |
OMIM:137920 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, Ch... |
ORPHA:900 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Intestinal perforation, Malabsorption, Tracheoesophageal fistula, Pancreatitis |
ORPHA:537 |
Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Scleritis, Glomerulonephritis, Crescentic glomerulonephritis, Pancr... |
ORPHA:93126 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, High palate, Aspiration pn... |
ORPHA:444077 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Esophageal stricture, Pancreatitis |
ORPHA:36426 |
Thyrotoxic Periodic Paralysis |
|
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... |
ORPHA:79102 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Lymphadenitis, Tubulointerstitial nephritis, Retroperitone... |
ORPHA:449395 |
Idiopathic Hypereosinophilic Syndrome |
|
Erythroderma, Inflammatory abnormality of the skin, Malabsorption, Arthritis, Pancreatitis, Eczem... |
ORPHA:3260 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Bile duct proliferation, Cholestasis, Po... |
OMIM:267010 |
Marburg Hemorrhagic Fever |
|
Skin rash, Jaundice, Arthritis, Uveitis, Pericarditis, Hypoglycemia, Orchitis, Maculopapular exan... |
ORPHA:99826 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, High palate, Insulin resistance, Abnormal tongue morphology, Insulin-resistant ... |
ORPHA:2457 |
Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Pancreatitis |
ORPHA:405 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Pyloric stenosis, Insulin resistance, Hepatic steatosis, Recurrent pneumonia, H... |
OMIM:613327 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Splenomegaly, Hepatomegaly |
OMIM:222700 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Esophageal varix, Hepatomegaly, Hepatic ... |
OMIM:263200 |
Bohring-Opitz Syndrome |
|
Narrow palate, Supernumerary nipple, Intestinal malrotation, Bilateral cleft palate, Hyperechogen... |
OMIM:605039 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Paraganglioma |
OMIM:193300 |
Distal Monosomy 12Q |
|
Late onset atopic dermatitis, Biliary atresia, Esophageal atresia, Pyloric stenosis, Pituitary ad... |
ORPHA:96149 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... |
OMIM:606721 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Anteriorly placed anus, Hypoglycemia, Hyperglycemia, Increased ... |
OMIM:220111 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification |
ORPHA:677 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Large intestinal polyposis, Adrenocortical carcinoma, Macroglossia, Neonatal hypo... |
ORPHA:116 |
Feingold Syndrome 1 |
|
Asplenia, High palate, Jejunal atresia, Esophageal atresia, Polysplenia, Tracheoesophageal fistul... |
OMIM:164280 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Cirrhosis, Decreased response to growth hormone stimulation test, S... |
ORPHA:470 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Cleft palate, Ankyloglossia, Annular pancreas |
ORPHA:488642 |
Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Hyperhidrosis, Hemoperitoneum, Erythema nodosum, Adrenal insufficiency, Jaundice,... |
ORPHA:99827 |
Yellow Fever |
|
Jaundice, Acute pancreatitis, Skin rash, Pancreatic hyperplasia |
ORPHA:99829 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Hypogonadism, Anteriorly placed anus, Cryptorchidism, Annular pancreas |
OMIM:268400 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Rhinitis, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Cryptorchidism, An... |
OMIM:227646 |
Jacobsen Syndrome |
|
Annular pancreas, Pyloric stenosis, Cryptorchidism |
OMIM:147791 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hyp... |
ORPHA:2255 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Trisomy 8P |
|
Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Cryptorchidism, A... |
ORPHA:264450 |
Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Pyloric stenosis, Eczema, Intestinal malrotation, Cryptorc... |
ORPHA:2308 |
Fryns Syndrome |
|
Esophageal atresia, Aganglionic megacolon, Polysplenia, Anal atresia, Ectopic pancreatic tissue, ... |
OMIM:229850 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Cryptorchidism, Annular pancreas, Furrowed tongue, Duodenal atresia |
OMIM:616975 |
Bohring-Opitz Syndrome |
|
Cleft palate, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Alström Syndrome |
|
Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomerulonephritis, Decreased circula... |
ORPHA:64 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Congenital shortened small intestine, Esophageal atresia, Anal atresia, Tracheoesophage... |
OMIM:265380 |
Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
Liver Disease, Severe Congenital |
|
Peritonitis, Portal inflammation, Hyperinsulinemic hypoglycemia, Eczema, Hepatic steatosis, Hepat... |
OMIM:619991 |
Leukocyte Adhesion Deficiency |
|
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Perianal abscess, Bronchiectasis, C... |
ORPHA:2968 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:99226 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, High palate, Aganglionic megacolon, Macroglossia, Hepatoblastoma, Anterio... |
ORPHA:798 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Abnormality of the liver, Abnormality of the anus, Hypogonadism, Pyloric stenosis... |
ORPHA:1606 |
Pmm2-Cdg |
|
Hepatic fibrosis, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Renal Cell Carcinoma, Nonpapillary |
|
|
OMIM:144700 |
Medullary Sponge Kidney |
|
|
ORPHA:1309 |