| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... |
OMIM:256450 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... |
ORPHA:293964 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... |
ORPHA:411593 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... |
ORPHA:314811 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... |
OMIM:617609 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:614131 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Nephrotic Syndrome, Type 9 |
|
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... |
OMIM:615573 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... |
OMIM:615008 |
| Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... |
OMIM:619155 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... |
OMIM:256300 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
| Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor... |
ORPHA:2843 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri... |
OMIM:619868 |
| Primary Membranoproliferative Glomerulonephritis |
|
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... |
ORPHA:54370 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Failure to thrive, Hypoalbumine... |
OMIM:613752 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:71529 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... |
OMIM:603278 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... |
ORPHA:84090 |
| Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... |
OMIM:614196 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... |
ORPHA:86816 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... |
ORPHA:276608 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... |
OMIM:610725 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... |
OMIM:246700 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71526 |
| Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia |
OMIM:620195 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul... |
OMIM:618349 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... |
ORPHA:276580 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... |
OMIM:262400 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph... |
OMIM:616730 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... |
OMIM:267700 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... |
OMIM:262190 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... |
ORPHA:276575 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia |
OMIM:617885 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... |
ORPHA:99886 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| 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 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... |
ORPHA:247585 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... |
ORPHA:567548 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... |
OMIM:262700 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
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 |
|
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... |
OMIM:615244 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... |
ORPHA:79644 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoa... |
ORPHA:398063 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Hypocalcemia, Patent foramen ovale, Hypoproteinemia, Ventricu... |
ORPHA:26793 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Immunodeficiency 115 With Autoinflammation |
|
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Splenomegaly, ... |
OMIM:620632 |
| Mody |
|
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c... |
ORPHA:552 |
| Alg1-Cdg |
|
Abnormality of the kidney, Cardiomyopathy, Nephrotic syndrome, Abnormal heart morphology, Hypoalb... |
ORPHA:79327 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... |
ORPHA:97279 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... |
ORPHA:276556 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Failure to thrive... |
OMIM:603553 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Failure to... |
OMIM:608776 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... |
ORPHA:103910 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Weight loss |
ORPHA:2494 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Dilated cardiomyopathy, Hepatomegaly, Hypoalbuminemia |
OMIM:618805 |
| Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoa... |
OMIM:618347 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche |
OMIM:616033 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... |
ORPHA:656 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Johanson-Blizzard Syndrome |
|
Dextrocardia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Failure to thrive, Hydronephrosi... |
ORPHA:2315 |
| Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia, Hepatomegaly |
OMIM:226300 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Reni Syndrome |
|
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... |
OMIM:617575 |
| Autoinflammation With Infantile Enterocolitis |
|
Elevated circulating C-reactive protein concentration, Failure to thrive, Splenomegaly, Hypoalbum... |
OMIM:616050 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... |
OMIM:615382 |
| Nephronophthisis 2 |
|
Hyperkalemia, Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstiti... |
OMIM:602088 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Hyperlipidemia, Failure to thrive in infancy, Hypercholestero... |
OMIM:232700 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Weight loss, Hypoalbuminemia |
ORPHA:90362 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... |
OMIM:600955 |
| Dengue Fever |
|
Hypoproteinemia, Hepatomegaly |
ORPHA:99828 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... |
OMIM:615363 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Hypocalcemia, Hypoproteinemia, Hydronephrosis, Splenomegaly, Ventr... |
OMIM:235255 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronep... |
ORPHA:1655 |
| Phoar2-Enteropathy Syndrome |
|
Hyperostosis, Hypoalbuminemia, Periostosis |
OMIM:614441 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Weight loss |
OMIM:209950 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine kinase concentration... |
OMIM:615895 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Flexion contracture |
OMIM:608093 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:619013 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Osteoporosis, Elevat... |
OMIM:266510 |
| Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Splenomegaly, Hepatomegaly |
OMIM:603554 |
| Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Hepatomegaly, Proximal tubulopathy, Renal cyst, Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... |
OMIM:604367 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Small for gest... |
ORPHA:79237 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Hepatomegaly, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemi... |
OMIM:607765 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat... |
ORPHA:64753 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:618528 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... |
ORPHA:263455 |
| Glucocorticoid Deficiency 3 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... |
OMIM:609197 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Mpi-Cdg |
|
Failure to thrive, Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
| Leishmaniasis |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:507 |
| Immunodeficiency 32B |
|
Failure to thrive, Hepatomegaly, Hypoalbuminemia, Splenomegaly |
OMIM:226990 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Hepatomegaly, Camptodactyly, Failure to thrive, Hypoalb... |
OMIM:608104 |
| Squalene Synthase Deficiency |
|
Hypospadias, Knee flexion contracture, Increased circulating farnesol concentration, Elevated uri... |
OMIM:618156 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... |
ORPHA:2298 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Abnormal renal morphology, Patent foramen ovale, Failure to thrive, Hypocho... |
OMIM:610883 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... |
OMIM:262600 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Abnormal cardiomyocyte ... |
ORPHA:367 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia |
ORPHA:6 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Oste... |
OMIM:619487 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Hypertrophic cardiomyopathy, Renal cyst, Hepatosplen... |
OMIM:619902 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Proximal tu... |
OMIM:212065 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... |
ORPHA:1227 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Overriding aorta, Hypoalbuminemia, Ventricular septal defect, Small for gestational age |
OMIM:617021 |
| Al Amyloidosis |
|
Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Increased circulati... |
ORPHA:85443 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hypoalbu... |
OMIM:613070 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Chronic ki... |
ORPHA:1667 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss, Steatorrhea |
ORPHA:2070 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous... |
OMIM:612526 |
| Glucocorticoid Deficiency 1 |
|
Abnormal circulating renin, Failure to thrive, Decreased circulating cortisol level, Abnormal cir... |
OMIM:202200 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Focal segmental glomerulosclerosis, N... |
OMIM:617303 |
| Multiple Myeloma |
|
Osteopenia, Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, S... |
ORPHA:29073 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... |
OMIM:604387 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma |
OMIM:618272 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Failure to thrive, Hyperammonemia, Hydronephrosis, Conjugated hyper... |
OMIM:617093 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Donohue Syndrome |
|
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... |
OMIM:246200 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... |
OMIM:614736 |
| Xfe Progeroid Syndrome |
|
Cachexia, Corneal scarring, Failure to thrive, Enamel hypoplasia, Absence of subcutaneous fat, Pr... |
OMIM:610965 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... |
ORPHA:785 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obesity, Hyper... |
ORPHA:251004 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... |
OMIM:613986 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... |
OMIM:615558 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... |
ORPHA:567546 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa... |
ORPHA:247353 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, F... |
OMIM:617872 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hepatomegaly, Abnormal renal physiology, Splenomegaly, Hypoalbuminemia, Inc... |
ORPHA:540 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ectopic kidney, Vesicoureteral reflux, Camptodactyly, Coronal crani... |
OMIM:235510 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Pericardial effusion, Hypomagnesemia,... |
OMIM:618183 |
| X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Steatorrhea, Hypotriglyceridem... |
ORPHA:14 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hypoproteinemia, Hyperammonemia, Splenomegaly, Umbilical hernia, Cardiom... |
OMIM:619991 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... |
OMIM:254900 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... |
OMIM:232200 |
| Alg12-Cdg |
|
Abnormal bone ossification, Muscular ventricular septal defect, Hypospadias, Abnormal adipose tis... |
ORPHA:79324 |
| Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Insulin resistance, Diabetes ... |
ORPHA:528 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hypoproteinemia, Hyponatremia, Pericardial effusion, Hepatosplenomegaly, Sp... |
ORPHA:167 |
| Galloway-Mowat Syndrome 3 |
|
Glomerular sclerosis, Camptodactyly, Nephrotic syndrome, Failure to thrive, Diffuse mesangial scl... |
OMIM:617729 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hyperbilirubinemia, Failure to thrive, Splenomegaly, Ele... |
OMIM:251880 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:613885 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hypernatriuria, ... |
ORPHA:90041 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis, Failure to thrive, Hypernatremia... |
OMIM:615508 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Splenomegaly, Hyperbilirubinemia |
ORPHA:64743 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased circulating carnitine concentration, Decreased body weight, Atypical scarring of skin, ... |
ORPHA:89842 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, Abnormal ... |
ORPHA:505248 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyp... |
OMIM:618329 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hyperammonemia, Pericardial effusion, Hypoalbuminemia |
ORPHA:292 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Fasciitis, Hypocalcemia, Recurrent urinary tract infections, Elevated circulating cr... |
ORPHA:36234 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Glycogen Storage Disease Ib |
|
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... |
OMIM:232220 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... |
OMIM:615962 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hepatomegaly, Hypospadias, Galactosuria, Hypermethioninemia, Hyp... |
OMIM:222470 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
OMIM:600649 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... |
OMIM:276700 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Hypoalbuminemia, Constrictive pericarditis, Weight loss |
ORPHA:67 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Enlarged kidney, Inguinal hernia, Nephroblastomatosis, Absent i... |
OMIM:608022 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Hyperechogenic kidneys, Protein... |
OMIM:609049 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... |
OMIM:619055 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketotic hypoglycemia, Failure to thrive, Postprandial hyperglycemia |
ORPHA:2089 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, 4-Hydroxy... |
OMIM:617156 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive, Hyperi... |
ORPHA:71212 |
| Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... |
ORPHA:95496 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Osteoporosis, S... |
ORPHA:186 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Camptodactyly, Nephrotic syndrome, Proteinuria, Hypoalbuminem... |
OMIM:251300 |
| Wilson Disease |
|
Hepatomegaly, Increased urinary copper concentration, Decreased circulating ceruloplasmin concent... |
OMIM:277900 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Decreased body weight, Elevated circulating creatine kinase concentration, Ab... |
ORPHA:96180 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Cachexia, Decreased circulating prealbumin concentration, Nephrotic syndrome, Hypom... |
ORPHA:37042 |
| Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Camptodactyly, Hepatosplenomega... |
ORPHA:168569 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hyperproteinemia, Increased circulating ferriti... |
ORPHA:158048 |
| Acth Deficiency, Isolated |
|
Adrenal hypoplasia, Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotrop... |
OMIM:201400 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... |
OMIM:615415 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... |
OMIM:201910 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Inguinal hernia, Hypocalcemia, Recurrent urina... |
OMIM:613658 |
| Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Enamel hypoplasia, Failure to thrive, Hypoalbuminemia |
ORPHA:79396 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Osteopenia, Enlarged kidney, Hepatomegaly, Xanthelasma, Hyperuricemia, Tubu... |
ORPHA:79259 |
| Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Unilateral renal agenes... |
OMIM:270400 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Hyperinsulinemia |
ORPHA:230 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... |
OMIM:314390 |
| Igg4-Related Kidney Disease |
|
Enlarged kidney, Pericarditis, Elevated circulating creatinine concentration, Urinary bladder inf... |
ORPHA:449395 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Enlarged kidney, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, ... |
OMIM:252500 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect |
ORPHA:79076 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance, Hypothyroid... |
ORPHA:769 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Failure to thrive |
OMIM:613327 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Transient hyperlipidemia, Elevated c... |
OMIM:255120 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol ... |
ORPHA:199296 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatomegaly, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbumi... |
ORPHA:171 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
| Meacham Syndrome |
|
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... |
OMIM:608978 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Osteoporosis, Increased circulating iron concentration, Splenomegal... |
OMIM:235200 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inlet ventricular septal defect, Splenomegaly, Dark urine, Elevated circulating creatinine concen... |
OMIM:619534 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... |
ORPHA:228308 |
| Leprechaunism |
|
Hyperinsulinemia, Fasting hypoglycemia, Decreased body weight, Increased circulating renin level,... |
ORPHA:508 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... |
OMIM:616113 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
| Tangier Disease |
|
Hypertriglyceridemia, Coronary artery stenosis, Hepatosplenomegaly, Left ventricular hypertrophy,... |
ORPHA:31150 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia |
ORPHA:2126 |
| Prader-Willi Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... |
OMIM:176270 |
| Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Focal segm... |
OMIM:194080 |
| Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... |
OMIM:607398 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... |
OMIM:618188 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple re... |
ORPHA:116 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... |
ORPHA:85451 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tra... |
ORPHA:93598 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Abnormality of connective tissue, Failure to thrive, Weight loss |
ORPHA:79128 |
| Alg9-Cdg |
|
Atrial septal defect, Abnormal bone ossification, Enlarged kidney, Hepatomegaly, Abnormal left ve... |
ORPHA:79328 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Multiple lipomas, Hypoproteinemia, Rectocele |
ORPHA:2929 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Aortic valve ... |
OMIM:208540 |
| Alstrom Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... |
OMIM:203800 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus |
OMIM:151660 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... |
OMIM:130650 |
| Kawasaki Disease |
|
Myocarditis, Elevated circulating C-reactive protein concentration, Abnormal heart valve morpholo... |
ORPHA:2331 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... |
OMIM:614748 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... |
ORPHA:57777 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Pericardial effusion, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Os... |
ORPHA:464329 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Omphalocele, Craniosynostosis, Cystic renal dysplasia |
OMIM:200995 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous ... |
OMIM:618280 |
| Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia, Ventricular septal defect, Atrial septal defect |
OMIM:244450 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus |
OMIM:248370 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Ca... |
ORPHA:75565 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypoglycemia, Diabetes mellitus, Large for gestational age |
OMIM:616026 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... |
ORPHA:99826 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Lipoatrophy, Enlarged kidney, Multiple lipomas |
ORPHA:276280 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... |
ORPHA:3464 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Splenomegaly, Weight loss, ... |
OMIM:619381 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement |
OMIM:614473 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Large for gestational age, Enlarged kidney, Abnormal right ventricle morpholog... |
ORPHA:500095 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... |
OMIM:300855 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... |
ORPHA:731 |
| Atypical Werner Syndrome |
|
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Decreased body weight, Glycosur... |
ORPHA:79474 |
| Dubowitz Syndrome |
|
Hypocholesterolemia, Hypospadias, Inguinal hernia |
OMIM:223370 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Decreased circulati... |
ORPHA:90790 |
| Leptospirosis |
|
Acute kidney injury, Hepatomegaly, Pericarditis, Cellular urinary casts, Hyperproteinemia |
ORPHA:509 |
| Multiple Endocrine Neoplasia, Type I |
|
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemia, Pituitary prola... |
OMIM:131100 |
| 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 |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes m... |
OMIM:269700 |
| Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Failure to thrive, Obesit... |
OMIM:615873 |
| Pmm2-Cdg |
|
Osteopenia, Abnormal renal tubule morphology, Abnormal subcutaneous fat tissue distribution, Redu... |
ORPHA:79318 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Steinert Myotonic Dystrophy |
|
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... |
ORPHA:273 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... |
ORPHA:786 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Obesity, Type II diabetes ... |
ORPHA:99413 |
| Turner Syndrome |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Obesity, Type II diabetes ... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Obesity, Type II diabetes ... |
ORPHA:99228 |
| Monosomy X |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Obesity, Type II diabetes ... |
ORPHA:99226 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Enlarged kidney, Transposition of the great arteries, Hepatomega... |
OMIM:312870 |
| Proteus Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Enlarged kidney, Long penis,... |
ORPHA:744 |
| Alström Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
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 |
