| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly |
ORPHA:88643 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... |
OMIM:606762 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:614131 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:615573 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia |
ORPHA:314802 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... |
OMIM:256300 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Enterokinase Deficiency |
|
Hypoproteinemia, Failure to thrive |
OMIM:226200 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... |
OMIM:619868 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Obesity, Childhood-onset truncal obesity, Hyperinsulinemia |
ORPHA:71529 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... |
OMIM:613752 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... |
ORPHA:84090 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia, Failure to thrive |
OMIM:227090 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:610725 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... |
ORPHA:71526 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
| Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia |
OMIM:620195 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... |
ORPHA:276580 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Diarrhea 13 |
|
Hypoalbuminemia, Failure to thrive |
OMIM:620357 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c... |
OMIM:616730 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hypoke... |
ORPHA:276575 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Increased serum leptin, Hyperinsulinemia |
OMIM:617885 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Enuresis, Decreased body mass index, Decreased HDL cholesterol concentration, Hy... |
ORPHA:247585 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... |
OMIM:262700 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... |
OMIM:617610 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop... |
ORPHA:398063 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Failure to thrive |
ORPHA:1954 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Osteopenia, Splenomegaly |
OMIM:610539 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Pericardial effusion, Obesit... |
ORPHA:26793 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Hypoketo... |
ORPHA:276556 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
| Alg1-Cdg |
|
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Abnormality of t... |
ORPHA:79327 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... |
OMIM:619326 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Atrial sept... |
OMIM:608776 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con... |
OMIM:603553 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Ménétrier Disease |
|
Hypoalbuminemia, Weight loss, Hypoproteinemia |
ORPHA:2494 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatomegaly, Failure to thrive in infancy, Dilated cardiomyopathy |
OMIM:618805 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased body weight, Proteinuria, Nephroti... |
OMIM:618347 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... |
ORPHA:656 |
| Johanson-Blizzard Syndrome |
|
Failure to thrive, Hydronephrosis, Abnormal cardiac septum morphology, Dextrocardia, Hypoplasia o... |
ORPHA:2315 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hepatomegaly, Hypoproteinemia |
OMIM:226300 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Splenomegaly, E... |
OMIM:616050 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Reni Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:617575 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Pericardial effusion, Hypoproteinemia |
ORPHA:90362 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Dengue Fever |
|
Hepatomegaly, Hypoproteinemia |
ORPHA:99828 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia |
OMIM:232700 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Hypocalcemia, Ventricular septal defect, Splenomegaly, Hydronephrosis, Micropeni... |
OMIM:235255 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Inguinal hernia, Hypocalcemia, Ventricular septal defect, Splenomegaly, Abnor... |
ORPHA:1655 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Weight loss, Splenomegaly |
OMIM:209950 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia, Hyperostosis, Periostosis |
OMIM:614441 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Vesicoureteral reflux, Splenomegaly, E... |
OMIM:615895 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Flexion contracture, Hypoproteinemia |
OMIM:608093 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive |
ORPHA:79320 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
| Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Failure to thrive |
OMIM:603554 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:619013 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Hepatomegaly, Steatorrhea |
OMIM:602579 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... |
ORPHA:247598 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia |
ORPHA:3085 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjuga... |
OMIM:607765 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... |
OMIM:616834 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic isl... |
ORPHA:263455 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Failure to thrive |
OMIM:226990 |
| Leishmaniasis |
|
Hypoalbuminemia, Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:507 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatomegaly, Failure to thrive |
ORPHA:79319 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Hepatomegaly, ... |
OMIM:608104 |
| Squalene Synthase Deficiency |
|
Elevated urine mesaconic acid level, Elbow flexion contracture, Hypocholesterolemia, Failure to t... |
OMIM:618156 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... |
OMIM:609197 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Hypocholesterolemia, Patent foramen ovale, Abnormal renal morphology, Atrial s... |
OMIM:610883 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive, Hepatosplenomegaly, Abnormal cardiomy... |
ORPHA:367 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tra... |
OMIM:619487 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Proximal tubulopathy, Failure to thrive, Cardiomyopathy, Hypocholest... |
OMIM:212065 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis |
OMIM:618858 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Ventricular septal defect, Hematuria, Overriding aorta, Small for gestational age |
OMIM:617021 |
| Al Amyloidosis |
|
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Abnormal heart morphology, Hypertrophic c... |
ORPHA:85443 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... |
OMIM:613070 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... |
ORPHA:1667 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Hypoalbuminemia |
OMIM:308240 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... |
OMIM:242150 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia |
ORPHA:2070 |
| Nephronophthisis 3 |
|
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... |
OMIM:604387 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Hypertrophic cardiomyopathy, Sple... |
OMIM:617303 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Abnormal circulating homo... |
ORPHA:88618 |
| Multiple Myeloma |
|
Nephropathy, Osteopenia, Acute kidney injury, Elevated circulating creatinine concentration, Sple... |
ORPHA:29073 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hypert... |
ORPHA:158061 |
| Glucocorticoid Deficiency 1 |
|
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... |
OMIM:202200 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica... |
OMIM:617093 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Renal dysplasia, Increased total bilirubin, Elbow flexion contracture, El... |
OMIM:608836 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Renal insuffic... |
OMIM:610965 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Increased blood urea nitrogen, Macroscop... |
ORPHA:251004 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C... |
ORPHA:247353 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... |
ORPHA:567546 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia... |
ORPHA:540 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Umbilical hernia, Horse... |
OMIM:235510 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Hypoglycemia, ... |
OMIM:617872 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:94086 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Peri... |
OMIM:618183 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... |
OMIM:619991 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... |
ORPHA:14 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Biventricular hypertrophy, Hypocholesterolemia, Muscular vent... |
ORPHA:79324 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Diabetes ... |
ORPHA:528 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... |
OMIM:232200 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceride... |
ORPHA:90041 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hyponatremia, Hyp... |
ORPHA:167 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Hiatus hernia, Proteinuria, D... |
OMIM:617729 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:251880 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Failure to thrive, Multiple muscular ventricular septal defects, Pulmonic stenos... |
OMIM:615508 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:64743 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Urin... |
ORPHA:505248 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... |
ORPHA:89842 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Failure to thrive, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Hyp... |
OMIM:618329 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Cardiomyopathy, Hyperammonemia, Myocarditis, Pericardial effusion |
ORPHA:292 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Cellulitis, Fasciitis, Recurrent urinary tract infections, Elevated circulating ... |
ORPHA:36234 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Micropenis, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Galactosuria, Smal... |
OMIM:222470 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... |
OMIM:232220 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... |
OMIM:276700 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Abnormal pericardium morphology, Weight loss, Constrictive pericarditis |
ORPHA:67 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Inguinal... |
OMIM:608022 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Failure to thrive, Elevated circulating creatine kinase concentra... |
OMIM:619055 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive |
ORPHA:2089 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, 4-Hydroxyphenylpyruvi... |
OMIM:617156 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hepatomegal... |
ORPHA:186 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Joint contracture of the hand, Renal insuffi... |
OMIM:251300 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... |
ORPHA:95496 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... |
OMIM:610600 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Chondrocalcinosis, Glycosuria, Osteomalacia, Hyperb... |
OMIM:277900 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, De... |
ORPHA:96180 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Nephrotic syndrome, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, ... |
ORPHA:37042 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
| H Syndrome |
|
Osteolysis, Hepatosplenomegaly, Hernia, Lipodystrophy, Micropenis, Abnormality of the kidney, Hyp... |
ORPHA:168569 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, H... |
ORPHA:158048 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, C... |
OMIM:615415 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,... |
OMIM:201400 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Failure to thrive, Hypokalemia |
OMIM:174900 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... |
OMIM:201910 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Failure to thrive |
ORPHA:71 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... |
OMIM:601198 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Retinitis Pigmentosa |
|
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Recurrent urinary tract infections, Slen... |
OMIM:613658 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Craniosynostosis |
ORPHA:79396 |
| Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... |
ORPHA:95619 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Duplicated collecting system, Renal hypoplasia, Unilateral renal agenesis, Renal... |
OMIM:270400 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Nephrocalcinosis, Failure to thrive, Xanthelasma, Stage 5 chronic kidney disease, Hyp... |
ORPHA:79259 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... |
OMIM:241150 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Weight loss, Tubulointerstitial nephritis, Elevate... |
ORPHA:449395 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Osteopenia, Failure to thrive, Umbilical hernia, Hypertrophi... |
OMIM:252500 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Subcutaneous lipoma, Abnormal heart morphology, Cachexia, Atrial septal defect |
ORPHA:79076 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Failure to thrive |
OMIM:613327 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ... |
ORPHA:556037 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level |
OMIM:619406 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Osteopenia, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Weight loss, ... |
ORPHA:171 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
| Meacham Syndrome |
|
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Horseshoe kidney... |
OMIM:608978 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Hyperammonemia, Renal tubular acidosis, Elevated circulating cr... |
OMIM:255120 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Failure to thrive, Hyperaldosteronism, Hypertrophic cardiomyopathy,... |
ORPHA:508 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Hyperbilirubinemia, Dar... |
OMIM:619534 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ... |
ORPHA:556030 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ... |
ORPHA:31150 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia |
OMIM:240200 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... |
OMIM:616113 |
| Prader-Willi Syndrome |
|
Precocious puberty, Class III obesity, Failure to thrive in infancy, Decreased response to growth... |
OMIM:176270 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital diaph... |
OMIM:194080 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Osteopenia, Umbilical hernia, Inguinal hernia, Subperiosteal bone form... |
OMIM:618188 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Congenital diaphragmatic hernia, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyo... |
ORPHA:116 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Glucocorticoid Deficiency 2 |
|
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... |
OMIM:607398 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal heart morphology, Abnormal renal artery morphology, Ventricul... |
ORPHA:79328 |
| Juvenile Polyposis Syndrome |
|
Rectocele, Multiple lipomas, Hypoproteinemia, Failure to thrive |
ORPHA:2929 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Situs inversus totalis, S... |
OMIM:208540 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus |
OMIM:151660 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Kawasaki Disease |
|
Hypoalbuminemia, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular sept... |
ORPHA:2331 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... |
OMIM:614748 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Kaposiform Lymphangiomatosis |
|
Osteolysis, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Enlarge... |
ORPHA:464329 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Craniosynostosis, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Atrial septal defect, Failure to thrive, Ventricular septal defect |
OMIM:244450 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus |
OMIM:248370 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Diabetes mellitus, Glycosuria, Hypoglycemia |
OMIM:616026 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... |
ORPHA:99826 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Lipoatrophy, Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Osteomalacia, Splenomegaly, Weight loss, Elevated circulating C-reactive protein... |
OMIM:619381 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... |
ORPHA:500095 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Patent fora... |
OMIM:300855 |
| Atelis Syndrome 2 |
|
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:620185 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... |
OMIM:601678 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... |
OMIM:607364 |
| Atypical Werner Syndrome |
|
Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Glycosuria, Hyp... |
ORPHA:79474 |
| Dubowitz Syndrome |
|
Hypocholesterolemia, Hypospadias, Inguinal hernia |
OMIM:223370 |
| Leptospirosis |
|
Acute kidney injury, Cellular urinary casts, Hepatomegaly, Hyperproteinemia, Pericarditis |
ORPHA:509 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... |
ORPHA:90790 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased serum leptin, Hyperinsulinemia, Diabetes mellitus, Insulin-resistant diabetes mellitus ... |
OMIM:608594 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... |
OMIM:131100 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes m... |
OMIM:269700 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Abnormal heart morpholo... |
OMIM:615873 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypertrophic cardiomyopathy, Multiple joint contr... |
ORPHA:79318 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... |
ORPHA:273 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Obesity, Glucose intolerance, Type II diabetes mellitus, Hyperinsul... |
ORPHA:99413 |
| Turner Syndrome |
|
Failure to thrive in infancy, Obesity, Glucose intolerance, Type II diabetes mellitus, Hyperinsul... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, Obesity, Glucose intolerance, Type II diabetes mellitus, Hyperinsul... |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, Obesity, Glucose intolerance, Type II diabetes mellitus, Hyperinsul... |
ORPHA:99226 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Umbilical h... |
OMIM:312870 |
| Proteus Syndrome |
|
Long penis, Cranial hyperostosis, Abnormal dental enamel morphology, Hyperostosis, Splenomegaly, ... |
ORPHA:744 |
| Alström Syndrome |
|
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Failure to thrive |
ORPHA:1934 |
| Developmental And Epileptic Encephalopathy 30 |
|
|
OMIM:616341 |
| Infantile Spasms Syndrome |
|
|
ORPHA:3451 |
| Early Myoclonic Encephalopathy |
|
|
ORPHA:1935 |
