| Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
| Malaria |
|
Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis |
ORPHA:88643 |
| Crigler-Najjar Syndrome Type 1 |
|
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment |
OMIM:238700 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body we... |
OMIM:618347 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance,... |
ORPHA:73272 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme... |
OMIM:208920 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:246700 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive impairm... |
OMIM:616267 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age, Aggressive behavior, Hyperbilirubinemia, Attention defic... |
OMIM:619075 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Anorexia, Weight loss |
OMIM:209950 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Alg6-Cdg |
|
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting... |
ORPHA:2298 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... |
OMIM:616050 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Hyperbilirubinemia |
OMIM:301094 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Polyphagia, Obesity, Hyperbilirubinemia |
OMIM:609734 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
| Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Leishmaniasis |
|
Hypoalbuminemia, Anorexia, Weight loss |
ORPHA:507 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Reni Syndrome |
|
Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia... |
OMIM:227810 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... |
OMIM:617093 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Eosinophilic Gastroenteritis |
|
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia |
ORPHA:2070 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Anorexia, Weight loss |
ORPHA:2494 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... |
ORPHA:1667 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... |
OMIM:603553 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel... |
OMIM:616860 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Depression, Self-biting, Stereotypical body rocking, Attention ... |
ORPHA:293939 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive |
OMIM:269920 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Progressive neurologic deterioration, Hypoalbuminemia, Hyperalaninemia, Failure to ... |
OMIM:618329 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo... |
OMIM:619055 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Irritability, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Fai... |
ORPHA:3008 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia |
OMIM:608104 |
| Hepatoportal Sclerosis |
|
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Irritability, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperb... |
ORPHA:348 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Depression, Decreased circulating carnitine concentratio... |
ORPHA:89842 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Immunodeficiency 32B |
|
Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Failure to thrive, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss... |
ORPHA:199299 |
| Aicardi-Goutieres Syndrome 9 |
|
Osteoporosis, Weight loss, Irritability, Hypoalbuminemia, Failure to thrive, Self-mutilation |
OMIM:619487 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentratio... |
ORPHA:79303 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
| Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Rickets |
OMIM:211600 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Failu... |
ORPHA:2089 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hypoalbuminemia |
OMIM:617021 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoporosis, Glyc... |
OMIM:277900 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Congenital Enterovirus Infection |
|
Irritability, Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia, Depression |
ORPHA:69665 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype... |
OMIM:614886 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
| Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:95716 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:235555 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Anorexia, Hyperkalemia, Hypoglycemic seizures, Weight loss, F... |
ORPHA:361 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Inc... |
ORPHA:95409 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Depression, Attention defici... |
ORPHA:90674 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Addison Disease |
|
Hyponatremia, Failure to thrive, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemi... |
ORPHA:85138 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Cystinosis |
|
Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, Failure to thrive, ... |
ORPHA:213 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Rickets, Hypocholesterolemia |
OMIM:607765 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Mental deterioration, Hypoalbuminemia, Dysphagia |
OMIM:254900 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Hypoglycemia, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa... |
OMIM:613658 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Irritability, Decreased osteoclast count, H... |
OMIM:259720 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Glycosuria |
OMIM:613404 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification, Failure to thr... |
ORPHA:79324 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:608836 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
| Bacterial Toxic-Shock Syndrome |
|
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... |
ORPHA:100924 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Insulin resistance, Progressive psychomotor deterioration, H... |
ORPHA:363400 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol... |
ORPHA:14 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Hypoalbuminemia, Coronal craniosynostosis |
OMIM:235510 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyperkalemia, Obesity, Depression,... |
ORPHA:293987 |
| Al Amyloidosis |
|
Weight loss, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Dysphagia |
ORPHA:85443 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Radial club hand, Hyperkalemia, Decreased body weight |
OMIM:617053 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... |
ORPHA:90791 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Osteoporosis, Obesity, Glucose intolerance, Hypokalemia, Abdominal ob... |
OMIM:219090 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive |
ORPHA:97362 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:601847 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased serum iron, Hypoalbuminemia, Cognitive impairment, Hypermeth... |
OMIM:222470 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Failure to thrive, Rickets, Anorexia |
OMIM:611590 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
| Sickle Cell Anemia |
|
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Graft Versus Host Disease |
|
Irritability, Failure to thrive, Hyperbilirubinemia |
ORPHA:39812 |
| Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggr... |
ORPHA:99826 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level |
OMIM:218030 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Osteoporosis, Depression, Weight loss, Hypoalbuminemia, Type I diabetes mellitus |
ORPHA:171 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia, Weight loss |
OMIM:613673 |
| Cystic Echinococcosis |
|
Bone cyst, Hyperbilirubinemia, Weight loss |
ORPHA:400 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Depression, Dementia, Type II diabetes mellitus, Memory impairment |
OMIM:604121 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:613812 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... |
OMIM:619475 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritabi... |
ORPHA:449291 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
| Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Hyperbilirubinemia, Type I diabetes mellitus, Failure to thrive |
OMIM:557000 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Fa... |
OMIM:229600 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Depression |
ORPHA:2137 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
| Ethylene Glycol Poisoning |
|
Confusion, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age |
OMIM:208085 |
| East Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
ORPHA:199343 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hypoalbuminemia |
OMIM:251300 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Cognitive impairment, G... |
ORPHA:411629 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Senior-Boichis Syndrome |
|
Aggressive behavior, Agitation, Attention deficit hyperactivity disorder, Polydipsia, Increased t... |
ORPHA:84081 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Small for gestational age, Hyperbilirubinemia |
OMIM:224120 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Increased circulating thyroglobulin level, Neon... |
ORPHA:90673 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia, Anorexia |
ORPHA:521219 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Anorexia, We... |
ORPHA:53035 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive, Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... |
ORPHA:173 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Adrenocortical Carcinoma |
|
Diabetes mellitus, Increased body weight, Weight loss, Irritability, Hypokalemia |
ORPHA:1501 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis, Hyperbilirubinemia, Osteolysis involvi... |
ORPHA:464321 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hypoglycemia, Progressive neurologic deterioration, Hyperammonemia, Hyperglycemia, Failure to thrive |
OMIM:615453 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
| Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased body weight, Depression, Abdominal obesity, Hyperglycemia |
OMIM:615954 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Weight loss, Hypoa... |
OMIM:619381 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7... |
OMIM:270400 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight los... |
ORPHA:275761 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia |
ORPHA:403 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
| Fumarase Deficiency |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:606812 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Cachexia |
ORPHA:79076 |
| Mercury Poisoning |
|
Hypokalemia, Confusion, Anorexia |
ORPHA:330021 |
| Lathosterolosis |
|
Osteoporosis, Abnormal circulating cholesterol concentration, Elevated circulating lathosterol co... |
OMIM:607330 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid conc... |
OMIM:614866 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... |
ORPHA:466650 |
| Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitat... |
ORPHA:340 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Ogden Syndrome |
|
Maternal diabetes, Irritability, Hyperbilirubinemia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:300855 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... |
ORPHA:567983 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Failure to thrive, Severe failure to thrive, Small for gestational... |
ORPHA:30391 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia |
OMIM:207800 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
OMIM:612780 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Irritability, Failure to thrive, Unconjugated hyperbilirubinemia |
OMIM:618278 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosur... |
ORPHA:3337 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia |
ORPHA:251274 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Compulsive behaviors, Aggressive behavior |
ORPHA:163956 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Hardikar Syndrome |
|
Irritability, Failure to thrive, Osteoporosis, Hyperbilirubinemia |
OMIM:301068 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Hyperactivity, Increased circulating thyroglobulin level |
OMIM:609152 |
| Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia, Failure... |
OMIM:263800 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Dysphagia, Glycosuria, Unconjugated hyperbilirubinemia, Increased blood ure... |
ORPHA:447 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Progressive neurologic deteriorati... |
OMIM:219800 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Unconjugated ... |
ORPHA:79277 |
| Degcags Syndrome |
|
Osteopenia, Small for gestational age, Craniosynostosis, Oral-pharyngeal dysphagia, Hyperbilirubi... |
OMIM:619488 |
| Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Osteootohepatoenteric Syndrome |
|
Weight loss, Reduced bone mineral density, Hypokalemia, Increased serum bile acid concentration, ... |
OMIM:619377 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses |
OMIM:208500 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Cranioectodermal Dysplasia 2 |
|
Craniosynostosis, Hyperbilirubinemia |
OMIM:613610 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypoka... |
ORPHA:358 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hypokalemia |
ORPHA:369929 |
| Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated... |
OMIM:619534 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Recurrent hypoglycemia |
OMIM:620305 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia |
ORPHA:90794 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Failure to thrive, Hyperbilirubinemia, Progressive neurologic de... |
OMIM:210710 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
| Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
| Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... |
ORPHA:508 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
| Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Mental deterioration, Memory impairment, Narcolepsy, Depression |
ORPHA:314404 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Reduced bone mineral density, Hypokalemia, Polydipsia, Failure to thrive |
ORPHA:18 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Small for gestational age, Craniosynostosis, Hyperkalemia, Decreased ... |
OMIM:201750 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deterioration, Depr... |
ORPHA:646 |
| Scorpion Envenomation |
|
Restlessness, Increased circulating NT-proBNP concentration, Glycosuria, Hypokalemia, Increased c... |
ORPHA:466677 |
| Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Glycosuria, Polydipsia, Failure to thrive |
ORPHA:47159 |
| Vipoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Hypokalemia |
ORPHA:97282 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive |
OMIM:602522 |
| Pearson Syndrome |
|
Diabetes mellitus, Small for gestational age, Dysphagia, Hypophosphatemia, Glycosuria, Hypokalemi... |
ORPHA:699 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Cachexia |
ORPHA:75565 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:620186 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Depression, Hypophosphatemia, Self-injurious behavior,... |
ORPHA:534 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Pmm2-Cdg |
|
Osteopenia, Insulin resistance, Reduced thyroxin-binding globulin, Hyperinsulinemia, Osteoporosis... |
ORPHA:79318 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Hyper... |
ORPHA:94089 |
| Nelson Syndrome |
|
Hypokalemia, Type II diabetes mellitus |
ORPHA:199244 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentration, Conjugate... |
OMIM:243800 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... |
OMIM:619573 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hypokalemia, Osteoporosis, Weight loss |
ORPHA:91347 |
| African Trypanosomiasis |
|
Aggressive behavior, Narcolepsy, Weight loss, Irritability, Delirium |
ORPHA:3385 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Osteolysis, Cognitive impairment |
ORPHA:286 |
