| Familial Renal Glucosuria |
|
Renal tubular dysfunction, Dehydration, Recurrent urinary tract infections, Nephropathy, Glycosur... |
ORPHA:69076 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... |
OMIM:610947 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy |
ORPHA:28 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration, Failure to thrive, Methylmalonic aciduria |
OMIM:614265 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Coma, Hyperammonemia, Hyperlysinuria, Lethargy, Growth delay, Dibasicaminoaciduria |
OMIM:238750 |
| Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Nocturia, Hyponatremia, Excessive daytime somnolence, Weight loss... |
ORPHA:178029 |
| Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Dehydration, Hypercalciuria, Infantile hypercalcemi... |
OMIM:143880 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Dehydration, Hypercalciuria, Distal renal tubular acidosis, Growt... |
OMIM:602722 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Ataxia, Neutropenia, Abnormal T cell subset distrib... |
ORPHA:158048 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration, Intrauterine growth retardation, Severe failure to thrive |
OMIM:601410 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
OMIM:607250 |
| Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... |
ORPHA:93101 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Growth delay, Uraciluria, Lethargy |
OMIM:274270 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Growth delay, Hy... |
OMIM:610600 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased p... |
ORPHA:79159 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Growth delay, Hy... |
OMIM:203400 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentratio... |
OMIM:251120 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Anxiety, Increased circulatin... |
ORPHA:90041 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality... |
ORPHA:99886 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration, Methylmalonic aciduria, Dicarboxylic aciduria, Methylmalonic acid... |
ORPHA:289504 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Renal sodium was... |
ORPHA:556030 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Dehydration, Hematuria, Hypernatremia, Renal insufficiency, H... |
ORPHA:35710 |
| Glutaric Acidemia Type 3 |
|
Failure to thrive, Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of ci... |
ORPHA:35706 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Ethylmalonic aciduria, Lethargy |
OMIM:201470 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia |
ORPHA:94124 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia |
ORPHA:181393 |
| Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr... |
ORPHA:93110 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy |
ORPHA:79312 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Cognitive impairment, Mental deterioration, Elevated cir... |
OMIM:208920 |
| Isovaleric Acidemia |
|
Coma, Dehydration, Hyperglycinuria, Lethargy |
OMIM:243500 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Coma, Hyperammonemia, Methylmalonic aciduria, Dehydration, Tubulointerstitial ... |
OMIM:251000 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Ketonuria, Hyperlipidemia, Short stature, Glycosuria, Lethargy |
ORPHA:2089 |
| Glycerol Kinase Deficiency |
|
Coma, Small for gestational age, Short stature, Increased urinary glycerol, Hypertriglyceridemia,... |
OMIM:307030 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Lethargy |
ORPHA:79283 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Coma, Hyperammonemia, Confusion, Increased level of L-glutamic acid in blood, ... |
OMIM:237310 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Lethargy |
ORPHA:254857 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Insul... |
OMIM:612526 |
| Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short... |
ORPHA:213 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Lethargy |
OMIM:236270 |
| Glycine Encephalopathy |
|
Hyperglycinemia, Hyperglycinuria, Lethargy |
OMIM:605899 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
| Morgagni-Stewart-Morel Syndrome |
|
Cognitive impairment, Osteoporosis, Hyperostosis frontalis interna, Memory impairment, Suicidal i... |
ORPHA:77296 |
| Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... |
ORPHA:3337 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Dehydration, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... |
OMIM:267700 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Dehydration, Edema |
OMIM:616069 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Myoglobinuria, Neonatal death |
OMIM:602199 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Dehydration, Hypergly... |
OMIM:251110 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Lethargy |
ORPHA:622 |
| Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Lethargy, Small for gestational age |
OMIM:617065 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Short stature, Distal renal tubular acidosis, Isothenuria, Nephro... |
OMIM:611590 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Failure to thrive, Glycosuria |
OMIM:606824 |
| Multiple Myeloma |
|
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hyperc... |
ORPHA:29073 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy |
ORPHA:27 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concentration, Hyperglycinemi... |
OMIM:619386 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Propionic Acidemia |
|
Failure to thrive, Hyperglycinuria, Coma, Hyperammonemia, Short stature, Dehydration, Hyperglycin... |
OMIM:606054 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Ede... |
ORPHA:103910 |
| Juvenile Nephropathic Cystinosis |
|
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... |
ORPHA:411634 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Dehydration, Hypergly... |
OMIM:251100 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Irritability, Hypoproteinemia, Decreased HDL cholesterol co... |
ORPHA:247585 |
| Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hypernatremic dehydration, Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy |
OMIM:615026 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... |
OMIM:616828 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Short stature, Hyposthenuria, Hydroureter, Hypernatremic dehydration, Hypernat... |
ORPHA:223 |
| Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational age, Unilatera... |
ORPHA:2260 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Lethargy |
ORPHA:26 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Neonatal death, Edema, Small for gestational age |
OMIM:610498 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Polyuria, Hypernatremia, Hypertonic dehydration, Megacystis |
OMIM:304800 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Impaired renal concentrating ability, Chronic kidney disease, Hypokalemia... |
ORPHA:89938 |
| Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Growth delay, Hypokalemia, Aminoaciduria, Mild postnatal grow... |
ORPHA:47159 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Dysdia... |
OMIM:277460 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss, Lethargy |
ORPHA:30925 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... |
OMIM:209950 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary ... |
OMIM:208085 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hy... |
OMIM:237300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Coma, Hyperammonemia, Renal insufficiency, Growth delay, Lethargy |
ORPHA:289916 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, 3-Methylglutac... |
OMIM:618120 |
| Glut1 Deficiency Syndrome 1 |
|
Confusion, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Ketonuria, Acute hyperammonemia, Elevated urinary 3-methylcrotonylglycine leve... |
OMIM:210200 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Holocarboxylase Synthetase Deficiency |
|
Coma, Hyperammonemia, Organic aciduria, Growth delay, Weight loss, Lethargy |
ORPHA:79242 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hemophagocytosis, Splenome... |
OMIM:603553 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Lethargy |
OMIM:618228 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased circulating... |
OMIM:601678 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Coma, Hyperglycinuria, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Cerebral e... |
OMIM:201450 |
| Bartter Syndrome, Type 3 |
|
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Dehydration, Increased circula... |
OMIM:607364 |
| Familial Hypoaldosteronism |
|
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... |
ORPHA:427 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration, Intrauterine growth retardation |
OMIM:618958 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Dehydration, Polyhydramnios, Hyponatremia, Growth delay, Hypochlo... |
OMIM:214700 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hyperammonemia, Hyperisoleu... |
ORPHA:2394 |
| Methylcobalamin Deficiency Type Cble |
|
Failure to thrive, Loss of consciousness, Hypomethioninemia, Glomerulopathy, Hyperhomocystinemia,... |
ORPHA:2169 |
| Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Growth delay, Hypokalemia, Aminoaciduria, Decreased glomerula... |
ORPHA:18 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration, Delayed puberty, Hyponatremia, Renal salt wasting |
OMIM:300200 |
| Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Growth delay, Hypophosphatemia, Hypokalemia, Aminoa... |
ORPHA:411629 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Dehydration, Neonatal death, Tubulointerstitia... |
OMIM:263200 |
| Maple Syrup Urine Disease |
|
Coma, Elevated plasma branched chain amino acids, Increased level of hippuric acid in urine, Cere... |
OMIM:248600 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Loss of consciousness, Small for gestational age, Increased C-peptide level, Large for gestationa... |
ORPHA:324575 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| 3-Methylglutaconic Aciduria, Type V |
|
Intrauterine growth retardation, Hypospadias, Sudden cardiac death, Noncompaction cardiomyopathy,... |
OMIM:610198 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia,... |
ORPHA:79237 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... |
ORPHA:276556 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Short stature,... |
ORPHA:1667 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Dehydration, Abnormal blood ion concen... |
ORPHA:173 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Lethargy |
OMIM:605711 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Failure to thrive, Polyuria, Proximal tubulopathy |
OMIM:560000 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Acute hyperammonemia, Coma, Hyperammonemia, Hyperglutaminemia, Delirium, Confu... |
ORPHA:927 |
| Reticular Dysgenesis |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:33355 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration, Increased circulating renin level, Hyponatremia, Hyperkalemia |
OMIM:177735 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Coma, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased pla... |
ORPHA:42 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... |
ORPHA:64753 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration, Increased circulating renin level, Failure to thrive in infancy, Hyponatremia, Propo... |
ORPHA:171876 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Meth... |
OMIM:614857 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
| Dengue Fever |
|
Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Coma, Abnormality of the upper urinary t... |
ORPHA:99885 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... |
ORPHA:276575 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Lethargy, Small for gestational age |
OMIM:312170 |
| Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Hypoargin... |
OMIM:215700 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Nephropathy, Hematu... |
OMIM:277400 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Coma, Abnormal circulating fatty-acid concentration, Glycosuria, Renal ... |
ORPHA:263455 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Coma, Hyperammonemia, Dehydration, Edema, Hyperuricemia, Excessive daytime somnolence,... |
ORPHA:134 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Coma, Hyperammonemia, Confusion, Decreased plasma carnitine, Excessive daytime... |
OMIM:212140 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Drowsiness, Coma, Lethargy |
ORPHA:276608 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Renal tubular acidosis, Transient hyperlipidemia, Lethargy, Loss of consciousness |
ORPHA:156 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Coma, Hyperammonemia, Hyperl... |
OMIM:210210 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi... |
OMIM:241200 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Large for gestational age, Hypoglycemic coma, Drowsiness, Lethargy, Lo... |
ORPHA:276580 |
| Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... |
ORPHA:507 |
| Citrullinemia Type I |
|
Failure to thrive, Coma, Hyperammonemia, Elevated plasma citrulline, Lethargy, Loss of consciousness |
ORPHA:247525 |
| Congenital Generalized Lipodystrophy |
|
Bone cyst, Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:528 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... |
ORPHA:2070 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
| Saccharopinuria |
|
Hyperlysinemia, Hyperammonemia, Mental deterioration, Cognitive impairment, Abnormality of circul... |
ORPHA:3124 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concentration,... |
OMIM:255120 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability |
ORPHA:263501 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Dehydration, Oliguria, Abnormal bloo... |
ORPHA:31824 |
| Galactosemia |
|
Failure to thrive, Increased level of galactitol in plasma, Hypergalactosemia, Renal insufficienc... |
ORPHA:352 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... |
OMIM:609015 |
| Cystinosis, Nephropathic |
|
Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage 5 chronic ki... |
OMIM:219800 |
| Multiple Carboxylase Deficiency |
|
Organic aciduria, Coma, Lethargy, Hyperammonemia |
ORPHA:148 |
| Lamellar Ichthyosis |
|
Dehydration, Renal insufficiency, Short stature |
ORPHA:313 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... |
ORPHA:167 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Chronic hemolytic anemia, Elevat... |
OMIM:210250 |
| Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia |
ORPHA:79320 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... |
ORPHA:231144 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasm... |
OMIM:311250 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid ... |
ORPHA:2457 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased ... |
ORPHA:71212 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Ketonuria, Hyperammonemia, Hypomethioninemia, Methylmalonic aciduria, Elevated... |
ORPHA:79282 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Microvillus Inclusion Disease |
|
Dehydration, Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hyperprolinemia, Failure to thrive in infancy, Lethargy |
OMIM:619064 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Netherton Syndrome |
|
Aminoaciduria, Short stature, Dehydration, Ectopic kidney, Hydronephrosis |
ORPHA:634 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hype... |
ORPHA:90065 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... |
ORPHA:26793 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Dehydration, Proteinuria, Grade II vesicoureteral reflux, Weight ... |
OMIM:619377 |
| Argininosuccinic Aciduria |
|
Failure to thrive, Oroticaciduria, Coma, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxica... |
OMIM:207900 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Lethargy |
ORPHA:71277 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Growth delay, Hyperlysinemia, Lacticaciduria, Coma, Hyperammonemia, Increased ... |
ORPHA:3008 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... |
ORPHA:79284 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Lethargy, Increased serum iron |
OMIM:602390 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Aggressive behavior, Hypoproteinemia |
OMIM:608093 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Cystathioninemia,... |
OMIM:277380 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Coma, 3-Methylglutaric aciduria, Hyperammonemia, Dehydration, Hypoglycemic coma, Hyper... |
ORPHA:20 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Low plasma citrulline, Abnormal blood ion concentration, Growth d... |
ORPHA:95427 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Lethargy |
OMIM:618226 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Periostosis, Hyperostosis |
OMIM:614441 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Ketonuria, Lethargy, Hyperammonemia |
OMIM:615751 |
| Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Facial edema, Lethargy |
ORPHA:95717 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Dehydration, Small for gestational age |
OMIM:214150 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Coma, Dehydration, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Hyperbilirubinemia, 3-Methylglutaric aciduria, Small for gestational age, Dehy... |
OMIM:557000 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Cirrhosis, Familial |
|
Lethargy, Ascites, Increased level of propylene glycol in blood, Increased level of L-fucose in u... |
OMIM:215600 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia |
OMIM:226300 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Lethargy |
OMIM:614922 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperornithinemia, Coma, Hyperammonemia, Confusion, Lethargy |
OMIM:238970 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Renal dysplasia, Abnormal renal corticomedullary differentiation, Elev... |
OMIM:616733 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Coma, Hemoglobinuria, Dehydration, Elevated circulating creatinine concentration, Un... |
ORPHA:90038 |
| Smith-Magenis Syndrome |
|
Self-mutilation, Hypertriglyceridemia, Head-banging, Hypercholesterolemia |
OMIM:182290 |
| Encephalopathy, Recurrent, Of Childhood |
|
Lethargy |
OMIM:130950 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aci... |
OMIM:277410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
| Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Decreased... |
OMIM:278000 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy |
OMIM:274400 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia,... |
OMIM:608104 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:79240 |
| Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
| Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Coma, Hyperuric... |
OMIM:229600 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Increased urinary glycerol, Lethargy |
OMIM:229700 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasma carnitine, D... |
OMIM:201475 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... |
ORPHA:64743 |
| Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Arthritis, Increased serum iron, Neutr... |
OMIM:604250 |
| Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia, Diabetes mellitus |
ORPHA:2315 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Coma, Lethargy, Hyperammonemia |
OMIM:253270 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hypospadias, Dehydration, Increased circulating renin level, Penoscrotal hypos... |
ORPHA:90791 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Dehydration, Polyhydramnios, Rhizomelia, 3-Methylglutaconic aciduria, Growth delay, Intrauterine ... |
OMIM:616271 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Coma, Abnormal circulating c... |
OMIM:615838 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
| Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Drowsiness, Renal insufficiency, Reduced c... |
ORPHA:33475 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Coma, Hyperammonemia, Elevated creatine kinase ... |
ORPHA:159 |
| Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Growth delay, Lethargy |
OMIM:222748 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy |
OMIM:500007 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypophosphatemia, Coma, Renal insufficiency, Hyperuricemia, Hypermagnesem... |
ORPHA:469 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Short stature |
ORPHA:49827 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:96184 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Methylmalonic aciduria, Lethargy |
OMIM:275350 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:264580 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hyperinsulinemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Progress... |
OMIM:248370 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Edema, Hyponatremia, Ascites, Lethargy |
ORPHA:391673 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Osteopenia, Intraalv... |
ORPHA:470 |
| Idiopathic Intracranial Hypertension |
|
Obesity, Lethargy |
ORPHA:238624 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Dehydration |
ORPHA:33110 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy |
OMIM:614299 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, ... |
OMIM:212138 |
| Abetalipoproteinemia |
|
Broad-based gait, Failure to thrive, Abnormal circulating apolipoprotein concentration, Ataxia, H... |
ORPHA:14 |
| Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Dehydration, Hematuria, Renal insufficiency, Hyperoxaluria, Neph... |
OMIM:259900 |
| Dopa-Responsive Dystonia |
|
Lethargy, Urinary incontinence |
ORPHA:255 |
| Scrub Typhus |
|
Lethargy, Renal insufficiency, Reduced consciousness/confusion |
ORPHA:83317 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Dehydration, Abnormal urine potassium concentration, Hypertriglyceri... |
ORPHA:275761 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
| Pearson Syndrome |
|
Growth delay, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Small ... |
ORPHA:699 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Failure to thrive, Midshaft hypospadias, Dehydration, Abnormal urine po... |
ORPHA:168558 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... |
ORPHA:75249 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Osteomyelitis, Cellulitis, Elevated circulat... |
ORPHA:36234 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... |
OMIM:242150 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Failure to thrive, Midshaft hypospadias, Dehydration, Abnormal urine po... |
ORPHA:289548 |
| Insulinoma |
|
Fluctuations in consciousness, Coma, Reduced consciousness/confusion, Increased body weight, Leth... |
ORPHA:97279 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Irritability |
ORPHA:656 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Cognitive impairment, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
| Shigellosis |
|
Urethritis, Dehydration, Abnormal blood ion concentration, Acute kidney injury, Hyponatremia, Fai... |
ORPHA:810 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
| Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia |
OMIM:600649 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Postnat... |
ORPHA:556037 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Lethargy, Ascites, Pleural effusion |
OMIM:617397 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Facial edema, Lethargy, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
| Leukoencephalopathy With Vanishing White Matter |
|
Lethargy |
OMIM:603896 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Lethargy |
OMIM:233910 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Ataxia, Flexion contracture, Steatorrhea, Dysmetria, Osteopenia, Thrombocytosi... |
OMIM:212065 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Anxiety, Gait disturbance, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated urinary dopamine, Dehydration, Nocturia, Elevated circula... |
ORPHA:230 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Flexion contracture, Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, A... |
OMIM:617303 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Failure to thrive, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction,... |
ORPHA:79404 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophilia, ... |
OMIM:612852 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
| Classic Galactosemia |
|
Delayed puberty, Ascites, Lethargy |
ORPHA:79239 |
| Megalocornea-Mental Retardation Syndrome |
|
Osteopenia, Ataxia, Hypercholesterolemia |
OMIM:249310 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Lipodystrophy,... |
OMIM:617099 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Overweight, Lethargy, Abnormal circulating thyroglobulin level |
ORPHA:99832 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture |
ORPHA:367 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Self-mutilation, Hepatosplenomegaly, Osteoporosis, Hemolytic anemia, Weight lo... |
OMIM:619487 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... |
ORPHA:370 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... |
ORPHA:89842 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Hypercholesterolemia |
ORPHA:2479 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Irritability, Hypoalbuminemia |
OMIM:613070 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Hypercholesterolemia |
ORPHA:69663 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess |
ORPHA:67 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su... |
OMIM:151660 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Failure to thrive, Decreased serum zinc, Short stature |
OMIM:201100 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
| Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Intrauterine growth retardation, Lethargy |
ORPHA:765 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Joint swelling, Abnormality of iron homeostasis, We... |
ORPHA:465508 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Cystathioninemia, Leth... |
ORPHA:395 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Hematuria, Proteinuria, Nephrolithiasis, Joint swelling, Dehydration, Hyponatremia... |
ORPHA:534 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cognitive impairment, Osteopenia, Osteopor... |
ORPHA:79259 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pleural empyema, Confusion, Pleural effusi... |
ORPHA:36238 |
| Susac Syndrome |
|
Confusion, Lethargy |
ORPHA:838 |
| Myxedema |
|
Lethargy |
OMIM:255900 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Hyper... |
ORPHA:90674 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemi... |
OMIM:615558 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Oroticaciduria, Hyperornithinemia, Coma, Hyperammonemia, Abnormal circulating ... |
ORPHA:415 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Isolated Complex I Deficiency |
|
Failure to thrive, Increased serum pyruvate, Proximal tubulopathy, Intrauterine growth retardatio... |
ORPHA:2609 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrom |
