Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, 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, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, EEG with generalized epileptiform discharges, Hy... |
ORPHA:35878 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Increased C-peptide level, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... |
ORPHA:276575 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Episodic hyperhidrosis, Hyperinsuline... |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Ele... |
ORPHA:79230 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the young, Reac... |
ORPHA:324575 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
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 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, EEG abnormality, Incr... |
ORPHA:1227 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperhidrosis, Gly... |
ORPHA:263455 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism |
ORPHA:2849 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... |
OMIM:232700 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria |
OMIM:145980 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... |
ORPHA:411590 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia |
OMIM:614732 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased... |
ORPHA:90041 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Hypercalcemia |
ORPHA:69077 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:158048 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Interictal epileptiform activity, Glycosuria |
OMIM:618857 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... |
ORPHA:2126 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Hyperinsulinemic hypoglycem... |
ORPHA:79319 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Adrenal insuff... |
OMIM:619386 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94090 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Hypocalcemia |
ORPHA:172 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria,... |
OMIM:618440 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropi... |
OMIM:203800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Hypocalcemia |
ORPHA:100025 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, EEG with burst suppression, Multifocal epileptiform discharges, EEG with generalize... |
ORPHA:3006 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... |
ORPHA:93111 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:618347 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney |
ORPHA:2591 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney |
ORPHA:79327 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H... |
OMIM:232400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Portal fibrosis, Hepatic fi... |
ORPHA:369 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, EEG abnormality, Increased hepatic echogenicit... |
OMIM:261680 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Hyperhidrosis |
ORPHA:231147 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, Hepatic steatosis |
OMIM:619048 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis, Elevated circulating branched chain amino acid concentration, Elevate... |
OMIM:248600 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia |
ORPHA:97289 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:246900 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Pheochromocytoma |
|
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... |
ORPHA:769 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Jaundice, Recurrent pan... |
ORPHA:676 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
OMIM:235255 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalcemia, Micropen... |
ORPHA:1655 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... |
OMIM:613027 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... |
OMIM:615710 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Elevated hemoglobin A... |
OMIM:616113 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... |
OMIM:248370 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Hypoalbuminemia |
OMIM:226300 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Leptospirosis |
|
Cellular urinary casts, Hepatomegaly, Hyperproteinemia, Acute kidney injury |
ORPHA:509 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:36913 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... |
OMIM:608594 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... |
ORPHA:26793 |
Dengue Fever |
|
Hepatomegaly, Hypoproteinemia |
ORPHA:99828 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating... |
OMIM:616050 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232220 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hypoalbuminemia |
OMIM:618805 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Hypospadias |
ORPHA:2315 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia |
ORPHA:2238 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... |
OMIM:269700 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, EEG with burst suppression, Abnormal ci... |
ORPHA:79096 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Cryptorchidism, De... |
ORPHA:95496 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating branched chain amino acid concentration, Hyperam... |
ORPHA:2394 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... |
ORPHA:247598 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria |
OMIM:606407 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg... |
ORPHA:369837 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Hypercalcemia |
ORPHA:96168 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:619013 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... |
ORPHA:247353 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulati... |
OMIM:235200 |
Immunodeficiency 27A |
|
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:209950 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia |
OMIM:615935 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, F... |
ORPHA:42 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Hypoalbumine... |
OMIM:613070 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Pancreatitis |
OMIM:251000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Vesicoureteral re... |
OMIM:615895 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Hypoproteinemia |
OMIM:603554 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance |
OMIM:309620 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia |
ORPHA:476126 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... |
ORPHA:449395 |
Immunodeficiency 32B |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia |
OMIM:226990 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, EEG abnormality, Hyperuricemia |
OMIM:246450 |
Leishmaniasis |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia |
ORPHA:507 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi... |
OMIM:612462 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbu... |
ORPHA:1667 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Pancreatitis |
OMIM:606054 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Incre... |
ORPHA:85138 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatem... |
ORPHA:2088 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:267000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... |
ORPHA:2237 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney |
ORPHA:168569 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Thickened glo... |
OMIM:619487 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Hepatosplenomegaly |
ORPHA:210110 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypoalbuminemia |
OMIM:617021 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... |
OMIM:251880 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H... |
ORPHA:540 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, H... |
OMIM:212138 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia |
OMIM:210200 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, St... |
ORPHA:731 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... |
ORPHA:653 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Avian Influenza |
|
Acute kidney injury, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:454836 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Timothy Syndrome |
|
Hypocalcemia, Cardiomegaly |
OMIM:601005 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94089 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly |
ORPHA:464329 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Hepatic steatos... |
ORPHA:348 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H... |
ORPHA:167 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Wilson Disease |
|
Hepatomegaly, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia,... |
OMIM:277900 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
Gracile Bone Dysplasia |
|
Micropenis, Hypocalcemia |
OMIM:602361 |
Necrotizing Enterocolitis |
|
Hyponatremia, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Hepatoportal Sclerosis |
|
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Jaundice, Low plasma citrulline, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentra... |
ORPHA:79474 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Abnormal blood ion concentration, Tubulointerstitial nephritis, Nephrotic syndrome,... |
ORPHA:37042 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Elevated circulating... |
OMIM:619991 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... |
ORPHA:91355 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
Vipoma |
|
Hepatomegaly, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Ppoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia,... |
OMIM:212065 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... |
OMIM:307030 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t... |
ORPHA:904 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Dend Syndrome |
|
Hyperglycemia, Hypsarrhythmia |
ORPHA:79134 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia |
ORPHA:913 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hepatomegaly, Hypocalcemia |
OMIM:259700 |
Somatostatinoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97283 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoalbuminemia |
OMIM:618329 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Increased serum iron, Hypoalbuminemia, Galactosuria, Hyp... |
OMIM:222470 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology... |
OMIM:194050 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Micropenis, Hypospadias, Hypocalcemia |
OMIM:607143 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:619418 |
Grfoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Hypoalbuminemia, Proteinuria |
OMIM:610965 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Glucagonoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97280 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Polycystic kidney dysplasia, Hyperbilirubinemia, Enlarge... |
OMIM:300855 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatocellular c... |
OMIM:232240 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:79444 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinos... |
ORPHA:797 |
Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Hypercalcemia, Hypercalciuria |
ORPHA:652 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis |
ORPHA:79324 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:103580 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Mitochondrial Trifunctional Protein Deficiency |
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Left ventricular hypertrophy, Hypocalcemia |
ORPHA:746 |
Gitelman Syndrome |
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Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tubulointerstiti... |
ORPHA:358 |
Pearson Syndrome |
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Hepatomegaly, Renal insufficiency, Proteinuria, Hypomagnesemia, Splenomegaly, Lacticaciduria, Ren... |
ORPHA:699 |
Simpson-Golabi-Behmel Syndrome |
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Hepatomegaly, Hypoglycemia, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-... |
ORPHA:373 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hypocalcemia |
OMIM:618476 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... |
ORPHA:2785 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Double Outlet Right Ventricle |
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Hypocalcemia |
ORPHA:3426 |
Amoebiasis Due To Entamoeba Histolytica |
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Hypoalbuminemia |
ORPHA:67 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:79443 |
Fructose Intolerance, Hereditary |
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Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Cirrhosis,... |
OMIM:229600 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Craniofacioskeletal Syndrome |
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Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Smith-Lemli-Opitz Syndrome |
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Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... |
OMIM:270400 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
Celiac Disease, Susceptibility To, 1 |
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Hypocalcemia |
OMIM:212750 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Hennekam Syndrome |
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Splenomegaly, Hypocalcemia, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Diabetes mellitus, Patent ductus arteriosus, Biliary atresia, Glycosuria, Hyp... |
OMIM:600001 |
Greenberg Dysplasia |
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Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu... |
OMIM:218330 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Mucopolysacchariduria, Hypocalcemia |
ORPHA:175 |
Marburg Hemorrhagic Fever |
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Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Recurrent urinary tract infections, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Primary Sclerosing Cholangitis |
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Hepatomegaly, Renal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:171 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Cardiac-Urogenital Syndrome |
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Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Hypoalbuminemia |
ORPHA:79396 |
Isotretinoin-Like Syndrome |
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Hypocalcemia |
ORPHA:2306 |
22Q11.2 Deletion Syndrome |
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Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycystic kidne... |
ORPHA:567 |
Velocardiofacial Syndrome |
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Hypocalcemia |
OMIM:192430 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Hepatomegaly, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Juvenile Polyposis Of Infancy |
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Hypoalbuminemia |
ORPHA:79076 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulati... |
OMIM:619534 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |
Immunodeficiency 82 With Systemic Inflammation |
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Splenomegaly, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
Leukocyte Adhesion Deficiency |
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Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Hypocalcemia, Hydr... |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Unilateral renal agenesis, Hepatosplenomegaly, Urinary urgency, Hypocalcemia, Hypomagnesemia, Mic... |
OMIM:619503 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hypocalcemic tetany, Recurrent urinary tract infections |
ORPHA:83471 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hydronephrosis, Hypocalcemia |
OMIM:620330 |
Charge Syndrome |
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Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Hydronephrosis |
OMIM:214800 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Hepatomegaly, Hypoalbuminemia, Cardiomegaly |
ORPHA:75565 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conj... |
OMIM:243800 |