Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus, Abnormality of the pancreas |
OMIM:167755 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis |
OMIM:211000 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discha... |
ORPHA:35878 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... |
ORPHA:79084 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:324575 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:615573 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... |
OMIM:600995 |
Mahvash Disease |
|
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Granulomatous Slack Skin |
|
Hypercalcemia, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chronic kidney dis... |
ORPHA:54370 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria |
ORPHA:284400 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... |
ORPHA:280356 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hypercalcemia, Hypercalciuria, Nephrocalcinosis |
OMIM:239199 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... |
OMIM:603278 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... |
ORPHA:84090 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... |
ORPHA:99879 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... |
ORPHA:29073 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... |
OMIM:256300 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... |
OMIM:145001 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism, Hypoglycemia |
OMIM:616113 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency, Hepatomegaly |
ORPHA:2123 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
Blue Diaper Syndrome |
|
Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis |
ORPHA:94086 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:618349 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... |
OMIM:615244 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... |
ORPHA:446 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria |
OMIM:614732 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Prematur... |
ORPHA:79237 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... |
OMIM:246200 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria |
OMIM:143880 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria |
OMIM:145980 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus |
OMIM:618856 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... |
ORPHA:3085 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Gaisböck Syndrome |
|
Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, In... |
ORPHA:90041 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Hyperinsuli... |
ORPHA:363400 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency |
ORPHA:35710 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... |
ORPHA:284426 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... |
OMIM:262600 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... |
ORPHA:2298 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... |
OMIM:231100 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... |
ORPHA:158048 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Hematuria |
ORPHA:69077 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Nephrolithiasis, Parathorm... |
OMIM:600740 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Reduc... |
ORPHA:2126 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hypoalbuminemia |
OMIM:602579 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... |
OMIM:608600 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Polycystic ovaries, Cirrhosis, H... |
ORPHA:528 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia |
ORPHA:2239 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, P... |
ORPHA:79319 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... |
ORPHA:567548 |
Uremic Pruritus |
|
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... |
ORPHA:94059 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... |
ORPHA:85445 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis |
OMIM:617872 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:619386 |
Wolfram-Like Syndrome |
|
Glucose intolerance, Male hypogonadism, Diabetes mellitus, Hypothyroidism, Central diabetes insip... |
ORPHA:411590 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... |
ORPHA:181393 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Interictal epileptiform activity, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... |
ORPHA:71212 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Hypocalcemia |
ORPHA:557003 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia |
OMIM:601165 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... |
ORPHA:251004 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent ... |
ORPHA:405 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Pyelonephrit... |
ORPHA:730 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester... |
OMIM:606721 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Elevated urinary norepinephrine, Elevated... |
ORPHA:94080 |
Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Hypoalbuminemia, Jaundice |
OMIM:617156 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Elevated plasma pyrophosphate, Pho... |
OMIM:241500 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:151660 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hyperphosphaturia, Calcinosis, Hepatomegaly, Aminoaciduria, Hypophosphatemia, Sple... |
OMIM:239200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia |
ORPHA:163693 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Cryptorchidism, Precocious p... |
OMIM:614736 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Hypocalcemia |
ORPHA:172 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hepatomegaly, Splenomegaly, Hypocalcemia, H... |
OMIM:618440 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased serum pyruvate |
OMIM:614741 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypoc... |
OMIM:612526 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Hypoalbuminemia |
OMIM:618347 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
Renal Tubular Acidosis, Distal, 1 |
|
Renal tubular acidosis, Nephrocalcinosis, Hypocalcemia |
OMIM:179800 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hepatomegaly, Elevated urinary delta-aminolevulinic acid, Nephrocalcinosi... |
OMIM:276700 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... |
OMIM:263200 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hyperalaninemia |
OMIM:266150 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia |
OMIM:619658 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated cir... |
OMIM:608836 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG with generalized ... |
ORPHA:3006 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria |
OMIM:156400 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... |
ORPHA:247585 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... |
OMIM:232400 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney |
ORPHA:2591 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, EE... |
OMIM:261680 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Hyperhidrosis |
ORPHA:231147 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... |
OMIM:617303 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Hepatic steatosis |
OMIM:619048 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Renal salt wasting, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemi... |
OMIM:601678 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... |
ORPHA:139507 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia |
ORPHA:79327 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... |
ORPHA:2457 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Hyperammonemia, Recurrent hypogly... |
OMIM:212140 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary no... |
ORPHA:276621 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... |
OMIM:608612 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... |
ORPHA:769 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Calcium nephrolithiasis |
ORPHA:97289 |
Maple Syrup Urine Disease |
|
Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine concentration, ... |
OMIM:248600 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Elevated circulating C-react... |
ORPHA:676 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... |
OMIM:603553 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia |
OMIM:226300 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Omenn Syndrome |
|
Hypoproteinemia, Hepatomegaly, Splenomegaly |
OMIM:603554 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration... |
OMIM:232200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:202200 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hydronephrosis, Hepatomegaly, Splenomegaly, Micropenis, Hypocalcemia |
OMIM:235255 |
Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:615415 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... |
OMIM:248370 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... |
OMIM:615710 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ... |
ORPHA:99880 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... |
ORPHA:99845 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:613327 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... |
ORPHA:95619 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:246900 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... |
ORPHA:199296 |
Leptospirosis |
|
Hyperproteinemia, Acute kidney injury, Hepatomegaly, Cellular urinary casts |
ORPHA:509 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration... |
OMIM:232220 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Parathyroid Carcinoma |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ... |
ORPHA:143 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hydronephrosis, Hepatomegaly, Splenomegaly, Micropenis, Hepatosplenomegaly, Abno... |
ORPHA:1655 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Cryptorchidism, Adrenocortical hypoplasia |
OMIM:307030 |
Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine |
OMIM:171300 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... |
OMIM:615160 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia |
ORPHA:36913 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Renal dysplasia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemi... |
OMIM:618183 |
Dengue Fever |
|
Hypoproteinemia, Hepatomegaly |
ORPHA:99828 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hypoalbuminemia |
OMIM:618805 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Hypercalcemia, Hypoglycemia, Adenoma sebaceum, Increased circulating cort... |
OMIM:131100 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Splenomegaly, C... |
OMIM:608594 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... |
ORPHA:79096 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosi... |
ORPHA:29072 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circ... |
ORPHA:26793 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... |
ORPHA:95496 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Splenomegaly, C... |
OMIM:269700 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia |
ORPHA:2238 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Decreased urinary potassium, Hyperuricemia, Renal salt... |
ORPHA:95409 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Hypoproteinemia, Hydronephrosis, Hypoplasia of penis |
ORPHA:2315 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Hyperammonemia, Elevated plasma branched chain am... |
ORPHA:2394 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Insulin-resistant diabetes mellitus, Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia |
OMIM:606407 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Hyperc... |
ORPHA:64753 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... |
ORPHA:99885 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... |
ORPHA:3464 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia, Fatigable weakness of respiratory muscles |
ORPHA:681 |
Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Urinary bladder inflammation,... |
ORPHA:449395 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Congenital megaureter, Renal ... |
ORPHA:369837 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia |
OMIM:209950 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Proximal tu... |
ORPHA:411634 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma, Glucose intoler... |
OMIM:235200 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Hypothyroidism, Patent ductus arteriosus |
OMIM:601005 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney |
OMIM:608022 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Hypoalbuminemia |
OMIM:608104 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Diabetes mellitus |
OMIM:616026 |
Mastocytosis |
|
Hypercalcemia, Hepatomegaly, Splenomegaly |
ORPHA:98292 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Fatigable weaknes... |
ORPHA:42 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... |
ORPHA:465508 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia |
ORPHA:1438 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Mic... |
OMIM:251880 |
Leprechaunism |
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Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Enla... |
ORPHA:508 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Glucose intolerance |
OMIM:309620 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
Pancreatitis, Hereditary |
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Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... |
OMIM:167800 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia, EEG abnormality, Decreased plasma carn... |
OMIM:246450 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Infantile Liver Failure Syndrome 2 |
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Hyperammonemia, Hypoglycemia, Jaundice |
OMIM:616483 |
Leishmaniasis |
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Hepatomegaly, Splenomegaly, Hypoalbuminemia |
ORPHA:507 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heavy proteinuria, Nephrotic syndrome, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, H... |
ORPHA:505248 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Hepatomegaly, Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Macrophage Activation Syndrome |
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Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, H... |
ORPHA:158061 |
Proprotein Convertase 1/3 Deficiency |
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Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level |
OMIM:600955 |
Dahlberg-Borer-Newcomer Syndrome |
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Renal insufficiency, Nephropathy, Hypocalcemia |
ORPHA:1563 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Hypercalcemia, Urinary incontinence |
ORPHA:476126 |
Pseudohypoparathyroidism Type 1B |
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Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... |
ORPHA:94089 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Hepatomegaly, Decreased plasma carnitine, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... |
OMIM:176270 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Macrovesicular hepatic steatosis, C... |
OMIM:256810 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
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Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia |
OMIM:618120 |
Colchicine Poisoning |
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Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... |
ORPHA:31824 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... |
ORPHA:567546 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
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Hypoglycemia |
OMIM:618253 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Renal insufficiency... |
OMIM:208540 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Monosomy 13Q34 |
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Fetal pyelectasis, Infantile hypercalcemia |
ORPHA:96168 |
Wolcott-Rallison Syndrome |
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Hyponatremia, Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Chronic kidney d... |
ORPHA:1667 |
H Syndrome |
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Micropenis, Hepatosplenomegaly, Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney |
ORPHA:168569 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Seckel Syndrome 10 |
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Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Endocrine-Cerebroosteodysplasia |
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Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney |
OMIM:612651 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hypoglycemia, Hyperammonemia, Cirrhosis, Conjugated hyperbilirubinemia, Elevated alpha-fetoprotei... |
OMIM:617049 |
Hepatocellular Carcinoma |
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Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:88673 |
Late-Onset Isolated Acth Deficiency |
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Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia |
OMIM:210200 |
Hypophosphatemic Rickets |
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Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph... |
ORPHA:437 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
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Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... |
ORPHA:73224 |
Aicardi-Goutieres Syndrome 9 |
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Hepatomegaly, Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infec... |
OMIM:619487 |
Addison Disease |
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Hyperkalemia, Hypercalcemia, Hyponatremia, Decreased urinary potassium, Hyperuricemia, Renal salt... |
ORPHA:85138 |
Refractory Anemia With Excess Blasts |
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Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Adrenal hyperplasia, Macroorchidism, Hyponatremia, Hyperkalemia, Hypoglycemia, Hyperactive renin-... |
ORPHA:90790 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Polycystic kidney dysplasia... |
ORPHA:2237 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Hypoketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Cholestatic liver disease |
ORPHA:5 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Absence of renal corticomedullary differentiation... |
OMIM:259720 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Hyperlipidemia, Nephrocalcinosis, Tubulointerstitial fibrosis, Nephrolithiasis, Sta... |
ORPHA:79259 |
Immunodeficiency, Common Variable, 10 |
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Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Hypoglycemia, Decrease... |
OMIM:615577 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypophosphatemia, Nephrolithiasis, Hypocalcemia |
ORPHA:93160 |
Propionic Acidemia |
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Hepatomegaly, Hypoglycemia, Pancreatitis, Hyperglycinemia, Hyperammonemia |
OMIM:606054 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hepatomegaly, Abnormal renal physiology, Splenomegaly, Increased circulating ferritin concentrati... |
ORPHA:540 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, P... |
ORPHA:731 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
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Hypoalbuminemia |
OMIM:614441 |
Chronic Bilirubin Encephalopathy |
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Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Multiple Endocrine Neoplasia Type 2 |
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Hypercalcemia, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated uri... |
ORPHA:653 |
Eosinophilic Gastroenteritis |
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Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatomegaly, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Renal cyst, Hypoalbu... |
OMIM:212065 |
Cholera |
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Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... |
ORPHA:173 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... |
OMIM:174000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, E... |
ORPHA:26791 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... |
OMIM:212138 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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