| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... |
OMIM:615285 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Elevated hepati... |
OMIM:619902 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... |
OMIM:610600 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Irritability |
OMIM:304800 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
| Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Obesity |
OMIM:615988 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age, Overgrowth, Inguinal hernia, Umbilica... |
OMIM:618272 |
| Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased bo... |
ORPHA:890 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556037 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
| Central Diabetes Insipidus |
|
Anxiety, Depression, Hyponatremia |
ORPHA:178029 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Obesity |
OMIM:615987 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Obesity |
OMIM:615995 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Micropenis, Hypogonadism |
OMIM:614962 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556030 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... |
OMIM:263200 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... |
OMIM:615751 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
| Posttransplant Acute Limbic Encephalitis |
|
Anxiety, Depression, Hyponatremia |
ORPHA:163921 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine kinase con... |
ORPHA:94093 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age |
OMIM:248100 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jon... |
ORPHA:100024 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Apathy, Neonatal hyperbilirub... |
ORPHA:3008 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap... |
ORPHA:100924 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Halothane Hepatitis |
|
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity |
OMIM:234350 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Carcinoma Of Esophagus |
|
Lymphadenopathy, Obesity, Weight loss |
ORPHA:70482 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... |
OMIM:615415 |
| Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... |
OMIM:133180 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Obesity |
ORPHA:99976 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency,... |
OMIM:615993 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... |
OMIM:619868 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis |
OMIM:615996 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipodystrophy, Genera... |
OMIM:612526 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Hypoplasia of penis, Micropenis |
ORPHA:85274 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... |
ORPHA:171876 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Nephronophthisis 15 |
|
Nephronophthisis, Obesity, Elevated hepatic transaminase |
OMIM:614845 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Increased LDL ... |
OMIM:267700 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... |
OMIM:618963 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... |
OMIM:269600 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
| Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Hypoplasia of penis, Hernia of the abdominal wall |
ORPHA:3055 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Tyrosinemia, Type I |
|
Cirrhosis, Hepatic failure, Renal insufficiency, Renal Fanconi syndrome, Anemia, Enlarged kidney,... |
OMIM:276700 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity |
ORPHA:71526 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anxiety, Depression, Hyponatremia |
ORPHA:83601 |
| Wilson Disease |
|
Cirrhosis, Anemia, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steat... |
ORPHA:905 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Abnormality of ... |
ORPHA:1414 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Splenomegaly, Flexion contracture, Anemia, Neutropenia, Nephro... |
OMIM:617303 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Macroscopic... |
ORPHA:251004 |
| Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
| Glycogen Storage Disease Ib |
|
Neutropenia, Enlarged kidney, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcino... |
OMIM:232220 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Hydronephrosis, Elevated circulating alanine aminotransferase concentra... |
OMIM:608836 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Multiple lipomas, Enlarged kidney, Overgrowth, Lipoatrophy, Abnormality of the ly... |
ORPHA:276280 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Failure to ... |
OMIM:601847 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney, Obesity |
OMIM:615982 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Failure to th... |
OMIM:235555 |
| Central Precocious Puberty |
|
Overgrowth, Obesity, Increased body weight |
ORPHA:759 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Irritability, Hypoproteinemia, Increased circulating ferritin concentr... |
OMIM:603553 |
| Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Lymphoid Interstitial Pneumonia |
|
Abnormality of connective tissue, Weight loss, Enlarged kidney, Failure to thrive, Hepatomegaly, ... |
ORPHA:79128 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age, Truncal obesity |
ORPHA:293964 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic kidney disease, Cholestasis, Neph... |
OMIM:616629 |
| Trisomy 5P |
|
Renal hypoplasia/aplasia, Obesity, Hypoplasia of penis |
ORPHA:1742 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Irritability |
ORPHA:173 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia, Self-biting |
OMIM:618314 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... |
ORPHA:731 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Renal dysplasia |
OMIM:615985 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... |
ORPHA:464329 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Nephronophthisis, Obesity, Splenome... |
OMIM:615630 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Hepatocellular c... |
ORPHA:69663 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Hyperostosis Frontalis Interna |
|
Obesity |
OMIM:144800 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Decreased glomerular fi... |
OMIM:232200 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Flexion contracture, Autoimmune hemolytic anemia, Lymphadenopathy, Generalized lipodystrophy, Pan... |
OMIM:619183 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Inguinal hernia, Nephrogenic ... |
OMIM:608022 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral meatus, Congenita... |
ORPHA:2377 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Klatskin Tumor |
|
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Anemia, Increased body weight |
OMIM:614450 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... |
ORPHA:131 |
| Bardet-Biedl Syndrome 21 |
|
Horseshoe kidney, Obesity, Elevated hepatic transaminase, Overweight |
OMIM:617406 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level |
OMIM:611489 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi... |
OMIM:211600 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| H Syndrome |
|
Hernia, Enlarged kidney, Abnormality of the kidney, Camptodactyly, Hepatosplenomegaly, Lipodystro... |
ORPHA:168569 |
| Adrenocortical Carcinoma |
|
Hyperaldosteronism, Increased circulating cortisol level, Hypokalemia, Panic attack, Paradoxical ... |
ORPHA:1501 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level |
OMIM:615238 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Elevated hepatic transaminase, Increased body weight |
ORPHA:94086 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anxiety, Hyponatremia |
ORPHA:79473 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Elevated hepatic transaminase, Large for gestationa... |
OMIM:616026 |
| Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Congenital d... |
OMIM:194080 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
| Beckwith-Wiedemann Syndrome |
|
Hepatoblastoma, Hepatomegaly, Nephrolithiasis, Splenomegaly, Nephroblastoma, Vesicoureteral reflu... |
ORPHA:116 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Emotional lability, Hypochlor... |
ORPHA:89938 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Glycosu... |
ORPHA:2298 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Hyperaldosteronism |
OMIM:613677 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible pr... |
ORPHA:404 |
| Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Lymphopenia, Penile freckling, Overgrowth, Hepatomegaly, Obesity, Sple... |
OMIM:605309 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
| Whipple Disease |
|
Depression, Hyponatremia |
ORPHA:3452 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Obesity |
ORPHA:141333 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Elevated hepatic transaminase, Large for gestational age, Increased hepatic glycogen ... |
ORPHA:263455 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Sclerosing cholangitis, Renal interstitial immunoglobulin deposits, ... |
ORPHA:449395 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular carc... |
ORPHA:79259 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... |
ORPHA:90038 |
| Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Elevated hepatic transaminase, Abnor... |
ORPHA:264580 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus |
ORPHA:79085 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Urethral atresia, Hydronephrosis |
OMIM:314390 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Birk-Landau-Perez Syndrome |
|
Increased circulating creatine kinase MB isoform, Hyperkalemia |
OMIM:617595 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Flexion contracture, Hernia, Nephrotic syndrome, Enlarged kidney, Hepatosplen... |
ORPHA:505248 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Small for gestational age... |
ORPHA:30391 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95512 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio... |
ORPHA:500095 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... |
OMIM:224120 |
| Acute Intermittent Porphyria |
|
Anxiety, Depression, Hyponatremia |
ORPHA:79276 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:617913 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperkalemia, Emotional lability, Depressi... |
ORPHA:293987 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Inguinal hernia, Umbilical hernia |
OMIM:618188 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:293978 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95513 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... |
ORPHA:567983 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Elevated hepatic transaminase, Hepat... |
ORPHA:79240 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Apathy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia |
ORPHA:254534 |
| Pituitary Apoplexy |
|
Increased circulating cortisol level, Hyponatremia |
ORPHA:95613 |
| Mody |
|
Pancreatic hypoplasia, Glycosuria, Abnormality of the kidney, Large for gestational age, Renal cy... |
ORPHA:552 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
| Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Enlarged kidney, Camptodactyly, Inguinal hernia, Failure to thrive, Mucopolysacchar... |
OMIM:252500 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Obesity |
OMIM:194072 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Anemia, Ketonuria, Large for gestational age, Failure to thrive, Bone marrow hypoc... |
OMIM:614520 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias, Obesity |
OMIM:605231 |
| Sickle Cell Disease |
|
Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hematuria, Increased red cell sickl... |
OMIM:603903 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Cystic renal dysplasia, Obesity, Abdominal mass, Hydronephrosis |
OMIM:615989 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible pr... |
ORPHA:251274 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Periportal fibrosis, Enlarged kidney, Ureteral hypoplasia, Lipodystrop... |
ORPHA:79328 |
| Addison Disease |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal agenesis, Failure to thrive, Horse... |
OMIM:306955 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus |
ORPHA:435651 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231625 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... |
ORPHA:209902 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
| Leprechaunism |
|
Decreased body weight, Reduced subcutaneous adipose tissue, Enlarged kidney, Long penis, Failure ... |
ORPHA:508 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
| Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Obesity, Hepatomegaly |
OMIM:612291 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Obesity, Chronic k... |
ORPHA:261222 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia, Euphoria |
ORPHA:31826 |
| East Syndrome |
|
Hypokalemia, Hyperaldosteronism, Hypomagnesemia, Increased circulating renin level |
ORPHA:199343 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
| Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Multicystic kidney dysplasia, Nephrotic syndrome, Hypoplasia of penis, Obesity |
ORPHA:110 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:91355 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased urinary cortisol level, Increased body weight |
OMIM:615954 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Abnormality of circulating cortisol level |
ORPHA:320 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Hyperaldosteronism, Self-injurious behavior, Anxiety, Hypophosphatemia, Hyp... |
ORPHA:534 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus |
ORPHA:435660 |
| Meacham Syndrome |
|
Enlarged kidney, Aplasia of the right hemidiaphragm, Horseshoe kidney, Accessory spleen, Aplasia ... |
OMIM:608978 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hyponatremia |
ORPHA:167 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Shigellosis |
|
Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Elliptocytosis 1 |
|
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly |
OMIM:611804 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
| Distal Tetrasomy 15Q |
|
Birth length greater than 97th percentile, Nephroblastoma, Flexion contracture, Hernia, Abnormali... |
ORPHA:314588 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Horseshoe kidney, Increased body weight |
OMIM:300860 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Renal cell carcinoma, Dorsocervical fat pad, Hepatic steatosis, Nephrolithiasis, Abdominal obesit... |
ORPHA:189427 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin |
ORPHA:778 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Fanconi-Bickel Syndrome |
|
Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight, Dorsocervical fat pad |
OMIM:615830 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Ketonuria, Large for gestational age, Diffuse pancreatic ... |
ORPHA:79644 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear/anxiety-related behavior, Hypokalemia, Emotional lability |
OMIM:219090 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:369929 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Abnormal subcutaneous fat tissue distribution, Elevated hepatic transaminase, Dorsocervical fat p... |
ORPHA:189439 |
| Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Abnormal renal morphology, Increased body weight |
OMIM:182290 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Primary hyperaldosteronism |
OMIM:615474 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Birth length greater than 97th percentile, Nephroblastoma, Enlarged kidney, Polysplenia, Pancreat... |
OMIM:312870 |
| Dysbetalipoproteinemia |
|
Renal steatosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Obesity |
ORPHA:412 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Failure to thrive, Trunca... |
OMIM:615873 |
| Ogden Syndrome |
|
Microvesicular hepatic steatosis, Minimal subcutaneous fat, Enlarged kidney, Jaundice, Polycystic... |
OMIM:300855 |
| Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
| Perlman Syndrome |
|
Nephroblastoma, Renal hamartoma, Large for gestational age, Congenital diaphragmatic hernia, Neph... |
OMIM:267000 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal granulocyte morphology, Elevated hepatic transaminase, Hepatic steatosis, Micronodular c... |
ORPHA:98907 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:607364 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Ascites, Cardiomegaly |
OMIM:261740 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Inappropriate crying, E... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Hyperaldosteronism, Hypomagnesemia, Increased circulating renin level |
OMIM:612780 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis |
OMIM:609734 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Increased body weight |
ORPHA:97279 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Fai... |
ORPHA:79474 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Patent urachus, Hepatopulmonary fusion, Congenital diaphragmatic hernia, Penoscr... |
OMIM:618280 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
| Hellp Syndrome |
|
Hemolytic anemia, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Elevate... |
ORPHA:244242 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity |
ORPHA:86816 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Sotos Syndrome |
|
Abnormality of the kidney, Overgrowth, Tall stature, Prolonged neonatal jaundice, Increased body ... |
OMIM:117550 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... |
ORPHA:90041 |
| Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Large for gestational age, Rena... |
OMIM:617107 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased serum leptin, Decreased adiponectin level, Diabetes mellitus |
ORPHA:280365 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Retinitis Pigmentosa 74 |
|
Obesity, Abnormal renal morphology |
OMIM:616562 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Decreased serum leptin |
OMIM:614008 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hyponatrem... |
OMIM:201750 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Elevated serum 11-deoxycortisol |
OMIM:202010 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Bartter Syndrome, Type 1, Antenatal |
|
|
