| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of... |
OMIM:606762 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... |
ORPHA:293964 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... |
OMIM:616963 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, EEG with generali... |
ORPHA:35878 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... |
ORPHA:411593 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... |
ORPHA:276575 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... |
OMIM:617609 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Episodic hyperhidrosis, Hypoketotic h... |
ORPHA:276580 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... |
ORPHA:99886 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemic... |
ORPHA:276608 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:614131 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... |
OMIM:600995 |
| Nephrotic Syndrome, Type 9 |
|
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... |
OMIM:615573 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... |
ORPHA:79084 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Diabetes mellitus,... |
ORPHA:79230 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... |
ORPHA:79644 |
| Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... |
OMIM:619155 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... |
OMIM:615008 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia... |
ORPHA:276556 |
| Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Mody |
|
Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, Hypo... |
ORPHA:552 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... |
OMIM:262700 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... |
OMIM:262400 |
| Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314811 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria |
ORPHA:284400 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Primary Membranoproliferative Glomerulonephritis |
|
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... |
ORPHA:54370 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
| Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... |
OMIM:614196 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... |
OMIM:143880 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... |
OMIM:610725 |
| Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... |
ORPHA:97279 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71526 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... |
ORPHA:84090 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibro... |
ORPHA:280356 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... |
OMIM:600955 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia, Abnormal blood phosphate concentration |
OMIM:615361 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... |
OMIM:262190 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... |
OMIM:256300 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Multiple Myeloma |
|
Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Splenomegaly,... |
ORPHA:29073 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Decreased HDL cholesterol c... |
OMIM:604367 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... |
OMIM:603278 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... |
ORPHA:1227 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Blue Diaper Syndrome |
|
Blue urine, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... |
OMIM:602088 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche |
OMIM:616033 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypophosphatemic rickets, Hypoketotic hypo... |
ORPHA:263455 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... |
ORPHA:99879 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:2123 |
| Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Perlman Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Insulin resistance, Hyperinsulinemia |
OMIM:617885 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... |
OMIM:601198 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hypoglyce... |
OMIM:232700 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia |
OMIM:620152 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... |
OMIM:179800 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... |
ORPHA:446 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... |
OMIM:615363 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:618349 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia |
OMIM:145980 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:66628 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Wolfram-Like Syndrome |
|
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Glucose intolerance, Hypothyroidi... |
ORPHA:411590 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... |
ORPHA:79237 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:179494 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:145981 |
| Donohue Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c... |
OMIM:246200 |
| Nephrotic Syndrome, Type 8 |
|
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... |
OMIM:615244 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis |
OMIM:146200 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... |
OMIM:619868 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hypsarrhythmia, Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias |
OMIM:614732 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... |
ORPHA:3085 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal... |
ORPHA:90041 |
| Glucocorticoid Deficiency 3 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... |
OMIM:609197 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen... |
OMIM:619902 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... |
ORPHA:284426 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
| Glucose-Galactose Malabsorption |
|
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency |
ORPHA:35710 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... |
OMIM:609812 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:600740 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:2239 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... |
OMIM:262600 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Uremic Pruritus |
|
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... |
ORPHA:94059 |
| Rhabdoid Tumor |
|
Hypercalcemia, Renal neoplasm, Hematuria |
ORPHA:69077 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hyperproteinemia, Increased circulating ferriti... |
ORPHA:158048 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circul... |
ORPHA:2298 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Hemochromatosis, Neonatal |
|
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosi... |
OMIM:231100 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia... |
ORPHA:79319 |
| Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia... |
ORPHA:2126 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa... |
ORPHA:79086 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... |
ORPHA:567548 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... |
ORPHA:528 |
| Aa Amyloidosis |
|
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... |
OMIM:608600 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... |
OMIM:616730 |
| Renal Dysplasia |
|
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... |
ORPHA:93108 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype... |
OMIM:211900 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:557003 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... |
ORPHA:656 |
| Non-Functioning Paraganglioma |
|
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... |
ORPHA:94080 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hyperammonemia, Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria... |
ORPHA:251004 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... |
OMIM:619386 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... |
ORPHA:71212 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... |
ORPHA:730 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Glucose intolerance, Impai... |
OMIM:606069 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin... |
OMIM:617872 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... |
OMIM:267700 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polyuria, Hyperphosphatemia, Hypercalcemia, Nephrolithiasis |
OMIM:617994 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Hy... |
OMIM:151660 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Endocardial Fibroelastosis |
|
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism |
ORPHA:2022 |
| Hyperparathyroidism, Neonatal Severe |
|
Polyuria, Calcinosis, Hepatomegaly, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Hypophospha... |
OMIM:239200 |
| Hypophosphatasia, Infantile |
|
Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hy... |
OMIM:241500 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting |
OMIM:612089 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal ca... |
ORPHA:405 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria |
OMIM:171420 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Hypercalcemia,... |
OMIM:618440 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... |
OMIM:613092 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr... |
OMIM:614736 |
| X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia, Hepatomegaly |
ORPHA:35 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholeste... |
OMIM:612526 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia |
OMIM:261750 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
| Reni Syndrome |
|
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... |
OMIM:617575 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Immunodeficiency 115 With Autoinflammation |
|
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Splenomegaly, ... |
OMIM:620632 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hyper... |
ORPHA:93111 |
| Acth Deficiency, Isolated |
|
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Hepatomegaly |
OMIM:614741 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato... |
ORPHA:247585 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... |
OMIM:613986 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... |
OMIM:608836 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia |
OMIM:246700 |
| Infantile Myofibromatosis |
|
Abnormality of the kidney, Hypercalcemia |
ORPHA:2591 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Hepatic fibrosis |
OMIM:602579 |
| Alg1-Cdg |
|
Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... |
ORPHA:103910 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic fibrosi... |
OMIM:232400 |
| Spinal Cord Injury |
|
Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction |
ORPHA:90058 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia |
OMIM:306000 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, He... |
ORPHA:369 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... |
ORPHA:276621 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... |
OMIM:601678 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hep... |
OMIM:603553 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia |
ORPHA:97289 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia... |
OMIM:261680 |
| Dietary Iron Overload Disease |
|
Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal... |
ORPHA:139507 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... |
ORPHA:2457 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... |
OMIM:615962 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hyperalaninemia, Hepatic steatosis, Hypoglycemia, Decreased plasma free carnitine |
OMIM:619048 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia |
ORPHA:90362 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Hyperalaninemia |
OMIM:266150 |
| Glucocorticoid Deficiency 1 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Abnormal circulating aldosteron... |
OMIM:202200 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... |
OMIM:617303 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... |
ORPHA:99845 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronephrosis, Hepatospl... |
ORPHA:1655 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine level, Hypercalcemia, Renal artery stenosis, Proteinuria |
OMIM:171300 |
| Rabson-Mendenhall Syndrome |
|
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... |
ORPHA:769 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia, Hepatomegaly |
OMIM:226300 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Hydronephrosis, Splenomegaly, Micropenis |
OMIM:235255 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Elevated circulating C-reactive protein concentration, Pancreatic calcification, Recurr... |
ORPHA:676 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Hyperg... |
OMIM:615710 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... |
OMIM:201910 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Decreased testicular size, E... |
OMIM:616113 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:618528 |
| Maple Syrup Urine Disease, Type Ia |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate... |
OMIM:248600 |
| Leptospirosis |
|
Acute kidney injury, Hepatomegaly, Cellular urinary casts, Hyperproteinemia |
ORPHA:509 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... |
OMIM:232200 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes ... |
OMIM:608612 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... |
OMIM:276700 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:36913 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, Hy... |
ORPHA:199296 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... |
ORPHA:29072 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen c... |
OMIM:613027 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Hydroxyprolinuria |
OMIM:602080 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pa... |
OMIM:608594 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Hyperglyc... |
OMIM:248370 |
| Dengue Fever |
|
Hypoproteinemia, Hepatomegaly |
ORPHA:99828 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating creatine kinase concen... |
OMIM:613327 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating... |
OMIM:616050 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatomegaly |
OMIM:618805 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... |
ORPHA:99880 |
| Johanson-Blizzard Syndrome |
|
Hydronephrosis, Hypoproteinemia, Hypospadias, Hypoplasia of penis |
ORPHA:2315 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... |
OMIM:615160 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency |
OMIM:240200 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, He... |
OMIM:203800 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... |
OMIM:615954 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pa... |
OMIM:269700 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Nephropathy |
ORPHA:2238 |
| Parathyroid Carcinoma |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... |
ORPHA:143 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... |
OMIM:232220 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... |
ORPHA:230 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Acute Adrenal Insufficiency |
|
Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,... |
ORPHA:95409 |
| Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... |
ORPHA:95496 |
| Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Fatigable weakness of respiratory muscles, Postprandial hyperglycemia |
ORPHA:681 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:618618 |
| Multiple Endocrine Neoplasia, Type I |
|
Glucagonoma, Adenoma sebaceum, Increased circulating prolactin concentration, Adrenocortical aden... |
OMIM:131100 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat... |
ORPHA:64753 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Decreased circulating carnitine concentration, Hyperisoleucinemia, Hyperammonemia, ... |
ORPHA:2394 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Neonatal insulin... |
ORPHA:99885 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Cystine crystalluria, Nephrolithiasis, Cystinuria |
OMIM:606407 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Reduced pancreatic beta cells, Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes... |
OMIM:226980 |
| Retinitis Pigmentosa |
|
Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:619013 |
| Monosomy 13Q34 |
|
Hypercalcemia, Fetal pyelectasis |
ORPHA:96168 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia |
OMIM:608022 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hyperphosphaturia, Hypophosphatemia |
ORPHA:89937 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Hyperc... |
ORPHA:369837 |
| Juvenile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... |
ORPHA:411634 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly |
OMIM:209950 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... |
OMIM:618183 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Hypoalbuminemi... |
ORPHA:247353 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... |
ORPHA:3464 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Liver Failure, Infantile, Transient |
|
Dicarboxylic aciduria, Hepatomegaly, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hypoalbu... |
OMIM:613070 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Fatigable weakness, Elevated circulating creatine kinase concentration, Hyperammone... |
ORPHA:42 |
| Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Renal interstitial immunoglobulin de... |
ORPHA:449395 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Glucose intolerance, Hepat... |
OMIM:235200 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Vesicoureteral reflux, Hypoproteinemia, Elevated circulating creatine kinase concen... |
OMIM:615895 |
| Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... |
OMIM:248250 |
| Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Hepatomegaly |
OMIM:603554 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93324 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Renal hypoplasia/aplasia |
ORPHA:1438 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Glycos... |
OMIM:617253 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia |
OMIM:604484 |
| Tropical Pancreatitis |
|
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... |
ORPHA:103918 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia |
ORPHA:476126 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... |
OMIM:242150 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Hydronephrosis, Urethral atresia |
OMIM:314390 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... |
OMIM:167800 |
| Leprechaunism |
|
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Increased circulating renin le... |
ORPHA:508 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... |
OMIM:254900 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Hypoglycemia, Jaundice |
OMIM:616483 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:615415 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep... |
OMIM:617913 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Nephropathy, Renal insufficiency |
ORPHA:1563 |
| Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Bilateral cryptorchidism, Decreased circulating cortisol level, Recur... |
OMIM:607398 |
| Leishmaniasis |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly |
ORPHA:507 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... |
ORPHA:567546 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Hypoc... |
ORPHA:94089 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hyperammonemia, Hydronephrosis, Conjugated hyperbilirubinemia, Decr... |
OMIM:617093 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia |
ORPHA:2089 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalce... |
OMIM:612462 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly |
OMIM:226990 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Prader-Willi Syndrome |
|
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... |
OMIM:176270 |
| Colchicine Poisoning |
|
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoph... |
ORPHA:31824 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr... |
ORPHA:465508 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Chronic kidney disease, Hypoalbum... |
ORPHA:1667 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Hypoalbuminemia, Heavy prot... |
ORPHA:505248 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Hyperammonemia, Hypoglycemia, Hyperglycinemia |
OMIM:251000 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... |
ORPHA:73224 |
| Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... |
OMIM:194080 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Hepatomegaly, Hepatic steatosis, Decreased circulating carnitine concentration |
OMIM:201450 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly |
OMIM:608104 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia |
ORPHA:5 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
| Perlman Syndrome |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Cryptorchidism |
OMIM:267000 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Jaundice, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fe... |
OMIM:617049 |
| Addison Disease |
|
Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,... |
ORPHA:85138 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... |
ORPHA:2088 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis |
ORPHA:168569 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... |
OMIM:208540 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, ... |
ORPHA:90790 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thic... |
OMIM:619487 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia, Nephrolithiasis |
ORPHA:93160 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... |
OMIM:174000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Hyperuricemia, Tubulointerstitial fibrosis, ... |
ORPHA:79259 |
| Cholera |
|
Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn... |
ORPHA:173 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Hematuria |
OMIM:617021 |
| Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... |
OMIM:615577 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Patent ductus a... |
OMIM:620185 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis |
OMIM:241410 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hepatomegaly, Abnormal renal physiology, Splenomegaly, Hypoalbuminemia, Inc... |
ORPHA:540 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Hyperammonemia, Patent ductus art... |
OMIM:620454 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Avian Influenza |
|
Acute kidney injury, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:454836 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia, Hepati... |
OMIM:605911 |
| Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Acute hyperammonemia |
OMIM:210200 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... |
ORPHA:653 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Portal hypertension, Hepatocellu... |
OMIM:251880 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... |
ORPHA:731 |
| Al Amyloidosis |
|
Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Increased circulati... |
ORPHA:85443 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating methylmalonylcarnitine concentration, Decreased methylmalonyl-CoA mutase act... |
OMIM:251110 |
| Timothy Syndrome |
|
Hypocalcemia, Cardiomegaly |
OMIM:601005 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperamm... |
OMIM:212138 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria |
OMIM:264700 |
| Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid... |
OMIM:609049 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno... |
OMIM:252500 |
| Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts |
ORPHA:464329 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia |
OMIM:175500 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... |
ORPHA:94093 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting |
ORPHA:352540 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatomegaly, Hepatosplenomegaly |
ORPHA:367 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:200995 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... |
OMIM:130650 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, A... |
ORPHA:786 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hyperuricemia, Hyperalaninemia, Neonat... |
ORPHA:348 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, Splenomegaly, Increased ... |
ORPHA:167 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Micropenis |
OMIM:602361 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Nephrotic syndrome, Hypomagnesemia,... |
ORPHA:37042 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Recurrent urinary tract infections, Elevated circulating creatine kinase concentrat... |
ORPHA:36234 |
| Galloway-Mowat Syndrome 3 |
|
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... |
OMIM:617729 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Splenomegaly, Hyperbilirubinemia |
ORPHA:64743 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hyperuricemia, Pancreatic hypoplasia, Impaired glucose tole... |
OMIM:137920 |
| Steinert Myotonic Dystrophy |
|
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... |
ORPHA:273 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Atypical Werner Syndrome |
|
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Ovarian n... |
ORPHA:79474 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low ... |
OMIM:615751 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... |
ORPHA:116 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Recurrent urinary tract infections, ... |
OMIM:619991 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
| Vipoma |
|
Hepatomegaly, Hypercalcemia, Hypokalemia |
ORPHA:97282 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, 4-Hydroxyphenylpyruvic acidu... |
OMIM:617156 |
| Dend Syndrome |
|
Hypsarrhythmia, Hyperglycemia |
ORPHA:79134 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c... |
ORPHA:904 |
| Pituitary Apoplexy |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... |
ORPHA:95613 |
| Sheehan Syndrome |
|
Central diabetes insipidus, Breast hypoplasia, Reduced circulating prolactin concentration, Pitui... |
ORPHA:91355 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria, Hypoalbuminemia,... |
OMIM:212065 |
| Ppoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hepatomegaly, Hypospadias, Galactosuria, Hypergalactosemia, Rena... |
OMIM:222470 |
| Alg9-Cdg |
|
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... |
ORPHA:79328 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis |
ORPHA:2323 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Hypocalcemia, Splenomegaly, Hypop... |
ORPHA:289157 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Vesicoureteral reflux, Hydronephrosis, Hypoalbuminemia, Horseshoe kidney |
OMIM:235510 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia |
ORPHA:913 |
| Somatostatinoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97283 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, 3-Methylglutaconic aciduria, Hyperalaninemia |
OMIM:618329 |
| Necrotizing Enterocolitis |
|
Peritonitis, Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Micropenis, Hypospadias |
OMIM:607143 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
OMIM:259700 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Renal insufficiency, Proteinuria |
OMIM:610965 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Grfoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Wilson Disease |
|
Increased urinary copper concentration, Hepatomegaly, Decreased circulating ceruloplasmin concent... |
OMIM:277900 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Aminoaciduria |
OMIM:619055 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,... |
ORPHA:31826 |
| Williams-Beuren Syndrome |
|
Renal insufficiency, Hypercalciuria, Pelvic kidney, Abnormal renal morphology, Vesicoureteral ref... |
OMIM:194050 |
| Glucagonoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97280 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... |
OMIM:251300 |
| Congenital Enterovirus Infection |
|
Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
| Ogden Syndrome |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Global glomerulosclerosis, Card... |
OMIM:300855 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Adrenocortical hypoplasia, Hypogly... |
OMIM:307030 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... |
ORPHA:89842 |
| Glycogen Storage Disease Ic |
|
Delayed puberty, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia |
ORPHA:500095 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... |
ORPHA:99413 |
| Turner Syndrome |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... |
ORPHA:99226 |
| Sarcoidosis |
|
Hepatomegaly, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypercalcemia, Renal insufficien... |
ORPHA:797 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal... |
ORPHA:79444 |
| Non-Acquired Panhypopituitarism |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
| Alg12-Cdg |
|
Hypospadias, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Micropenis |
ORPHA:79324 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Hypercalcemia, Nephrolithiasis |
ORPHA:652 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbilirubinemia, A... |
ORPHA:14 |
| Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney |
OMIM:615873 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney |
OMIM:306955 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany |
OMIM:103580 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... |
OMIM:614748 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
| Gitelman Syndrome |
|
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Renal potassium wasti... |
ORPHA:358 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Left ventricular hypertrophy |
ORPHA:746 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Hepatoblastoma, Hypoglycemia, Pancreatic islet-cell h... |
ORPHA:373 |
| Pearson Syndrome |
|
Hepatomegaly, Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia,... |
ORPHA:699 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Sotos Syndrome |
|
Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re... |
ORPHA:821 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly, Splenomegaly |
OMIM:259720 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinem... |
ORPHA:186 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevated circulating creatin... |
ORPHA:2785 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hydronephrosis, Hypospadias |
OMIM:300712 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Micropenis |
ORPHA:163979 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Glycosuria,... |
OMIM:229600 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal... |
ORPHA:79443 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Hyponatremi... |
ORPHA:544482 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collect... |
OMIM:270400 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... |
ORPHA:466650 |
| Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... |
ORPHA:90363 |
| Hennekam Syndrome |
|
Hypocalcemia, Splenomegaly, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Pancreatic hypoplasia, Glycosuria, Hyperglycemia, Patent ductus arteriosus, Abse... |
OMIM:600001 |
| Greenberg Dysplasia |
|
Pancreatic islet-cell hyperplasia, Hepatosplenomegaly, Hepatic calcification, Hepatomegaly |
OMIM:215140 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chron... |
OMIM:218330 |
| Cartilage-Hair Hypoplasia |
|
Mucopolysacchariduria, Hepatomegaly, Hypocalcemia |
ORPHA:175 |
| Alström Syndrome |
|
Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Hyperlipidemia, Sple... |
ORPHA:64 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:95494 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Recurrent urinary tract infections, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus |
OMIM:618280 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Renal insufficiency |
ORPHA:171 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... |
OMIM:312870 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... |
ORPHA:99826 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Proteus Syndrome |
|
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly |
ORPHA:744 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Hypocalcemia, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, ... |
ORPHA:567 |
| Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
| Kawasaki Disease |
|
Hypoalbuminemia, Sterile pyuria, Proteinuria, Elevated circulating C-reactive protein concentration |
ORPHA:2331 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Splenomegaly, Hepatomegaly, Hypophosphatemia |
ORPHA:667 |
| Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... |
ORPHA:79318 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating creatinine concentration, Hypercholesterolemia, Hepatomegaly, Hyperbilirubin... |
OMIM:619534 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Splenomegaly, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Peritonitis |
ORPHA:2968 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Hypocalcemia, Hydronephrosis, Splenomegaly, Renal dysplasia, Renal ins... |
OMIM:188400 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Hypocalcemia, Pelvic kidney, Urinary urgency, Hypomagnesemia, Hepatosp... |
OMIM:619503 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93325 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, Hydronephrosis |
OMIM:620330 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Hypocalcemic tetany |
ORPHA:83471 |
| Charge Syndrome |
|
Hypocalcemia, Renal agenesis, Renal hypoplasia, Hydronephrosis, Micropenis, Horseshoe kidney |
OMIM:214800 |
| Tropical Endomyocardial Fibrosis |
|
Cardiomegaly, Hypoalbuminemia, Hepatomegaly, Splenomegaly |
ORPHA:75565 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Hypocalcemia, Increased VLDL cholesterol concentration, Urethrovaginal... |
OMIM:243800 |
