| Familial Renal Glucosuria |
|
Moderate postnatal growth retardation, Renal tubular dysfunction, Glycosuria, Recurrent urinary t... |
ORPHA:69076 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Hypercholesterolem... |
OMIM:610947 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hyperammonemia, Renal insufficiency, Coma, Dehydration, Lethargy |
ORPHA:28 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration, Methylmalonic aciduria |
OMIM:614265 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Hyperlysinuria With Hyperammonemia |
|
Growth delay, Dibasicaminoaciduria, Hyperammonemia, Coma, Hyperlysinuria, Hyperlysinemia, Lethargy |
OMIM:238750 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss, Excessive daytime somnolence, Dehydration, Nocturia... |
ORPHA:178029 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Hypokalemia, Nephrocalcinosis, Failure to thrive, Hypercalciuria, Dehydration, Dist... |
OMIM:602722 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Failure to thrive, Hyperactivity, Uraciluria, Lethargy |
OMIM:274270 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Severe failure to thrive, Dehydration |
OMIM:601410 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Dehydration... |
ORPHA:93101 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dehydration, Ketonuria |
OMIM:251120 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Dystonia, Intrauterine growth retardation, Failure to thrive, Elevated cir... |
ORPHA:26792 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Renal salt wasting, Increased circul... |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Renal salt wasting, Increased circul... |
OMIM:203400 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dystonia, Dicarboxylic acidemia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thriv... |
ORPHA:289504 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
OMIM:607250 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dehydration, Dicarboxylic aciduria, Elevated circulating acylcarnitin... |
ORPHA:79159 |
| Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Hyperuricemia, Hypercholesterolemia, Diabetes m... |
ORPHA:90041 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Tubulointerstitial nephritis, Methylmalonic aciduria, Failure to thrive, ... |
OMIM:251000 |
| Transient Neonatal Diabetes Mellitus |
|
Intrauterine growth retardation, Small for gestational age, Abnormality of the urinary system, Fa... |
ORPHA:99886 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Gait disturbance, Lethargy |
ORPHA:79283 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Dehydration, Failure to thrive, Hyperammonemia, Coma, Renal insufficiency, Lethargy |
ORPHA:79312 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Short stature, Lethargy |
OMIM:618573 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Postnatal growth retardation... |
ORPHA:556030 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Dehydration, Failure to thrive, Hematuria, Weight loss, Nephrolithi... |
ORPHA:35710 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Failure to thrive, Glutaric aciduria, Elevated circulating glutaric acid concentration... |
ORPHA:35706 |
| Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy |
OMIM:605899 |
| Cystinosis |
|
Gait disturbance, Renal tubular dysfunction, Hypokalemia, Dehydration, Failure to thrive, Short s... |
ORPHA:213 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ethylmalonic aciduria, Failure to thrive, Lethargy |
OMIM:201470 |
| Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Dysmetria, Glucose intolerance, Impaired glucose tolerance, Hypercholesterole... |
OMIM:606721 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperhomocystinemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Homocystinuria, Leth... |
OMIM:236270 |
| Chronic Hiccup |
|
Weight loss, Dehydration |
ORPHA:396 |
| Isovaleric Acidemia |
|
Coma, Dehydration, Hyperglycinuria, Lethargy |
OMIM:243500 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
ORPHA:94124 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus |
ORPHA:181393 |
| Glycerol Kinase Deficiency |
|
Growth delay, Small for gestational age, Short stature, Coma, Increased urinary glycerol, Loss of... |
OMIM:307030 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Cognitive impairment, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbum... |
OMIM:208920 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Lethargy |
ORPHA:2089 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Ataxia, Lethargy |
ORPHA:622 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Increased level of L-glutamic acid in blood, Hyperammonemia, Coma, Confusion, ... |
OMIM:237310 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia,... |
OMIM:612526 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Lethargy |
ORPHA:254857 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricosuria, Chronic kidney disease, Hyper... |
ORPHA:3337 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Dehydration |
OMIM:143500 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting, Dehydration |
OMIM:264350 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia... |
OMIM:618120 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration, Hyperammonemia, Ataxia, Coma, Renal insufficiency, Lethargy |
ORPHA:27 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... |
OMIM:246700 |
| Morgagni-Stewart-Morel Syndrome |
|
Suicidal ideation, Cognitive impairment, Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyper... |
ORPHA:77296 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Edema, Dehydration |
OMIM:616069 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
| Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyp... |
OMIM:251110 |
| Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy |
OMIM:617829 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Gait disturbance, Lethargy |
ORPHA:26 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Cirrhosis, Familial |
|
Lethargy, Increased level of L-fucose in urine, Increased level of propylene glycol in blood |
OMIM:215600 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy |
OMIM:606777 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... |
ORPHA:247585 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Failure to thrive, Isothenuria, Sho... |
OMIM:611590 |
| Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomeg... |
ORPHA:29073 |
| Propionic Acidemia |
|
Dystonia, Short stature, Failure to thrive, Hyperglycinemia, Hyperammonemia, Increased level of h... |
OMIM:606054 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Hyperglycine... |
OMIM:619386 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
| Methylmalonic Aciduria, Cbla Type |
|
Lethargy, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyp... |
OMIM:251100 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Edema, Weight loss, Abnormal circulating prote... |
ORPHA:103910 |
| Diarrhea 2, With Microvillus Atrophy |
|
Dehydration, Growth delay |
OMIM:251850 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Failure to thrive, Episodic ammonia intoxication, Hyperammonemia, Ataxia, Coma... |
OMIM:311250 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Renal tubular dysfunction, Growth delay, Hyperammonemia, Coma, Renal insufficiency, Let... |
ORPHA:289916 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... |
OMIM:616828 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Nephrogenic Diabetes Insipidus |
|
Growth delay, Hypernatremia, Short stature, Failure to thrive, Hypernatremic dehydration, Enuresi... |
ORPHA:223 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
| Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... |
ORPHA:2260 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Ataxia, Coma, Cerebral... |
OMIM:237300 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Short stature, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Short stature, Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria |
OMIM:304800 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Weight loss, Hyperammonemia, Ataxia, Coma, Organic aciduria, Lethargy |
ORPHA:79242 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Hypokalemia, Nephrocalcinosi... |
ORPHA:47159 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Edema, Small for gestational age, Lethargy |
OMIM:610498 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Ataxia, Lethargy |
OMIM:618224 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Growth delay, Lethargy |
ORPHA:30925 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Splenomegaly, Hepato... |
OMIM:209950 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Failure to thrive, Increased urine alpha-ketoglutarate concentration, Hyperam... |
ORPHA:2394 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hypokalemia, Increased urinary potassium, Dehydration, Hypocalciuria, Renal p... |
OMIM:607364 |
| Maple Syrup Urine Disease |
|
Elevated circulating L-alloisoleucine concentration, Increased level of hippuric acid in urine, A... |
OMIM:248600 |
| Omenn Syndrome |
|
Hypoproteinemia, B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, O... |
ORPHA:398063 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Small for gestational age, Hyperalaninemia, Episodic ataxia, Lethargy |
OMIM:312170 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Ataxia, Polyuria, Dehydration |
OMIM:560000 |
| Bartter Syndrome, Type 1, Antenatal |
|
Short stature, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased cir... |
OMIM:601678 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... |
OMIM:603553 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive, Proximal tubu... |
ORPHA:18 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Growth delay, Ascites, Dehydration, Short stature, Hyperbilirubinemia, Hyperammonem... |
ORPHA:1667 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Decreased urinary potassium, Proxima... |
ORPHA:427 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Lethargy |
OMIM:618228 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... |
ORPHA:89938 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Growth delay, Hypokalemia, Failure to thrive, Hypochloremia, Polyhydramnios, Dehydr... |
OMIM:214700 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:618958 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Coma, Cerebral edema, Hyperglycinuria, Decreased plasma carni... |
OMIM:201450 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Drowsiness, Hyperglutaminemia, Failure to thrive, Hyperalaninemia, Acute hyperammonemia, Hyperamm... |
ORPHA:927 |
| Galactosemia |
|
Gait disturbance, Dystonia, Hypergalactosemia, Gait imbalance, Ascites, Failure to thrive, Increa... |
ORPHA:352 |
| Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Growth delay, Hypokalemia, ... |
ORPHA:411629 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... |
OMIM:277460 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Lethargy |
OMIM:613710 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Renal salt wasting, Dehydration, Delayed puberty |
OMIM:300200 |
| Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Drowsiness, Intrauterine growth retardation, Failure to t... |
ORPHA:2169 |
| Citrullinemia Type I |
|
Torticollis, Failure to thrive, Hyperammonemia, Ataxia, Coma, Loss of consciousness, Elevated pla... |
ORPHA:247525 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephr... |
OMIM:208085 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Intrauterine growth retardation, Failure to thri... |
ORPHA:99885 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Neonatal death, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia... |
OMIM:263200 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonem... |
ORPHA:42 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Drowsiness, Small for gestational age, Large for gestational age, Loss of consciousness, Decrease... |
ORPHA:324575 |
| Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Psychomotor deteriorat... |
ORPHA:79237 |
| Citrullinemia, Classic |
|
Oroticaciduria, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammonemia, Ataxia, Co... |
OMIM:215700 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Drowsiness, Large for gestational age, Loss of consciousness, Decreased circulating free fatty ac... |
ORPHA:276556 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Hypospadias, Prolonged QT interval, Noncompaction cardiomyopathy, Intraut... |
OMIM:610198 |
| Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Increased circulating ferritin concentration, Reduced na... |
OMIM:616050 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Failure to thrive, Acute hyperammonemia, Coma, Lethargy |
OMIM:210200 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level, Dehydration |
OMIM:177735 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:33355 |
| Beta-Ketothiolase Deficiency |
|
Edema, Weight loss, Excessive daytime somnolence, Hyperuricemia, Hyperammonemia, Ataxia, Coma, Re... |
ORPHA:134 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microcytic anemia, Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Lethargy |
OMIM:605711 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Proportionate short statur... |
ORPHA:171876 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... |
ORPHA:64753 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
| Cholera |
|
Abnormality of renal excretion, Hyponatremia, Lethargy, Decreased urine output, Hypokalemia, Acut... |
ORPHA:173 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Drowsiness, Large for gestational age, Loss of consciousness, Decreased circulating free fatty ac... |
ORPHA:276575 |
| Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Juvenile rheumat... |
ORPHA:158061 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Confusion, Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Meth... |
OMIM:277400 |
| Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy |
ORPHA:99828 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... |
ORPHA:101150 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
| Multiple Carboxylase Deficiency |
|
Hyperammonemia, Ataxia, Coma, Organic aciduria, Lethargy |
ORPHA:148 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Drowsiness, Abnormal circulating fatty-acid concentration, Increased body... |
ORPHA:263455 |
| Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Urinary incontinence, Inability to walk, Generalized dy... |
ORPHA:255 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Excessive daytime somnolence, Hyperammonemia, Coma, Decreased plasma carnitine... |
OMIM:212140 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Dystonia, Ataxia, Lethargy |
ORPHA:71277 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Coma, Drowsiness, Increased body weight, Lethargy |
ORPHA:276608 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Coma, Loss of consciousness, Transient hyperlipidemia, Lethargy |
ORPHA:156 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
| Leishmaniasis |
|
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... |
ORPHA:507 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcinosis, Increased urin... |
OMIM:241200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Dystonia, Ataxia, Lethargy |
OMIM:618226 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Growth delay, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased lev... |
ORPHA:3008 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Weight loss, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulati... |
ORPHA:2070 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Drowsiness, Large for gestational age, Loss of consciousness, Increased C-peptide level, Hypoglyc... |
ORPHA:276580 |
| Congenital Generalized Lipodystrophy |
|
Bone cyst, Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Inc... |
ORPHA:528 |
| Saccharopinuria |
|
Hypercystinemia, Cognitive impairment, Abnormality of circulating enzyme level, Hyperammonemia, M... |
ORPHA:3124 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Hypomagnesemia, Oliguria, Reduced consc... |
ORPHA:31824 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Renal tubular acidosis, Hyperammonemia, Coma,... |
OMIM:255120 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Myoglobinuria, Small for gestational age, Elevated circulating creatine kinase concentration, Fai... |
OMIM:609015 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Methylmalonic acidemia, Growth delay, Methylmalonic aciduria, Homocystinuria... |
OMIM:614857 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Failure to thrive, Acute hyperammonemia, Coma, Hyperglycinuria, Organic aciduria, Leth... |
OMIM:210210 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Methylmalonic aciduria,... |
OMIM:277410 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Lethargy, Hyperhomocystinemia, Glomerulopathy, Hypomethioninemia, Methylmalonic acidemia, Intraut... |
ORPHA:79282 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Panc... |
ORPHA:167 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Ataxia, Failure to thrive, Hypoalbuminemia |
ORPHA:79320 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Dehydration |
ORPHA:313 |
| Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration |
OMIM:617575 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Joint hypermobility, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Argininosuccinic Aciduria |
|
Oroticaciduria, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammonemia, Ataxia, Co... |
OMIM:207900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Intrauterine growth retardation, Failure to thrive, Abnormal circulating acetylcar... |
ORPHA:71212 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Anemia, Hypoalbuminemia, Thrombocytopenia, Camptodactyly |
OMIM:608104 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
| Cog4-Cdg |
|
Hypercholesterolemia, Ataxia, Hepatosplenomegaly, Irritability, Thrombocytopenia |
ORPHA:263501 |
| Smith-Magenis Syndrome |
|
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging |
OMIM:182290 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... |
ORPHA:231144 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Lethargy |
OMIM:246900 |
| Microvillus Inclusion Disease |
|
Abnormal renal physiology, Dehydration, Nephrocalcinosis |
ORPHA:2290 |
| Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia |
OMIM:144600 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Osteolytic defects ... |
ORPHA:2457 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Cyclic Vomiting Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Growth delay, Lethargy |
OMIM:500007 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Edema, Weight loss, Hyperuricemia, Hyperammonemia, Ataxia, Coma, 3-Methylglutaric acidu... |
ORPHA:20 |
| Severe Canavan Disease |
|
Inability to walk, Lethargy |
ORPHA:314911 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Hypokalemia, Failure to thrive, Weight loss, Increased serum bile... |
OMIM:619377 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Myoglobinuria, Delirium, Hypernatremia, Elevated circulating creatine... |
ORPHA:94093 |
| Netherton Syndrome |
|
Hydronephrosis, Short stature, Ectopic kidney, Aminoaciduria, Dehydration |
ORPHA:634 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Lethargy |
OMIM:618225 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Intrauterine growth retardation, Growth delay, Methylmalonic aciduria, Failu... |
ORPHA:79284 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Ataxia, Short stature, Lethargy |
OMIM:201100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Failure to thrive in infancy, Lethargy, Hyperalaninemia |
OMIM:619064 |
| Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycemia, Cognitive impairment, Progressive neurologic deterioration, Hypercho... |
ORPHA:90065 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperammonemia, Hyperalaninemia, Lethargy, Ketonuria |
OMIM:615751 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Aggressive behavior |
OMIM:608093 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic aciduria, Cystathion... |
OMIM:277380 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Increased circulating ferritin concentration, Lethargy |
OMIM:602390 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:26793 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Facial edema, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Weight loss, Dehydration, Low plasma citrulline, Abnormal blood ... |
ORPHA:95427 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... |
ORPHA:292 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia |
OMIM:226300 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperammonemia, Coma, Hyperornithinemia, Confusion, Lethargy |
OMIM:238970 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Anemia, Hypomagnesemia, Reduced proportion of CD4+ effector mem... |
ORPHA:90362 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Elevated circulating... |
OMIM:616733 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... |
ORPHA:90038 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Gr... |
OMIM:219800 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency, Lethargy |
OMIM:614922 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Gait disturbance, Ataxia, Lethargy |
OMIM:615838 |
| Classic Galactosemia |
|
Dystonia, Gait disturbance, Gait imbalance, Ascites, Ataxia, Attention deficit hyperactivity diso... |
ORPHA:79239 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporosis, Anemia, K... |
ORPHA:79240 |
| Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Failure to thrive, Proximal tubulopathy, Hypophosphat... |
OMIM:229600 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy |
OMIM:274400 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
| Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... |
OMIM:278000 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated circula... |
OMIM:608836 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Ataxia, Methylmalonic aciduria, Lethargy |
OMIM:275350 |
| Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Arthritis, Increased ... |
OMIM:604250 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Lethargy |
OMIM:614299 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Hyperkalemia, Penoscrotal hypospadias, Failure to thrive, Renal salt w... |
ORPHA:90791 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Increased urinary glycerol, Lethargy |
OMIM:229700 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Dicarboxylic ... |
OMIM:201475 |
| Hepatoportal Sclerosis |
|
Leukopenia, Cognitive impairment, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoal... |
ORPHA:64743 |
| Meningococcal Meningitis |
|
Drowsiness, Reduced consciousness/confusion, Elevated circulating C-reactive protein concentratio... |
ORPHA:33475 |
| Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Gait disturbance, Intrauterine growth retardation, Growth delay, Ataxia, Lethargy |
ORPHA:765 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Leukoencephalopathy With Vanishing White Matter |
|
Unsteady gait, Gait disturbance, Lethargy |
OMIM:603896 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hypocholesterolemia, Failure to thrive, Abnormal subcutaneous fat tissue distribu... |
OMIM:212065 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Coma, Organic aciduria, Hyperammonemia |
OMIM:253270 |
| Dihydropyrimidinase Deficiency |
|
Growth delay, Excessive daytime somnolence, Lethargy |
OMIM:222748 |
| Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... |
ORPHA:159 |
| Hereditary Fructose Intolerance |
|
Growth delay, Hypophosphatemia, Hyperuricemia, Coma, Chronic kidney disease, Hypermagnesemia, Ren... |
ORPHA:469 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Anemia, Diabetes mellitus |
ORPHA:2315 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
| Pearson Syndrome |
|
Growth delay, Hypokalemia, Lacticaciduria, Corneal stromal edema, Dehydration, Small for gestatio... |
ORPHA:699 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:264580 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Lethargy |
ORPHA:49827 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:96184 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Central Neurocytoma |
|
Ataxia, Coma, Lethargy |
ORPHA:73256 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Dehydration |
ORPHA:33110 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Ascites, Edema, Lethargy |
ORPHA:391673 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... |
OMIM:238600 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dystonia, Hyperphenylalaninemia |
OMIM:233910 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Dysmetria, Steppage... |
ORPHA:14 |
| Idiopathic Intracranial Hypertension |
|
Obesity, Lethargy |
ORPHA:238624 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Scrub Typhus |
|
Lethargy, Renal insufficiency, Reduced consciousness/confusion |
ORPHA:83317 |
| Lysinuric Protein Intolerance |
|
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... |
ORPHA:470 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... |
ORPHA:168558 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Cachexia, Ascites, Dehydration, Failure to thrive, Weight loss, Hyper... |
ORPHA:275761 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:36234 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:540 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Failure to thrive, Weight loss, Self-mutilation, Osteoporosis, Anemia, Hepatosplenomega... |
OMIM:619487 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Dehydration, Failure ... |
ORPHA:289548 |
| Insulinoma |
|
Coma, Reduced consciousness/confusion, Fluctuations in consciousness, Increased body weight, Leth... |
ORPHA:97279 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... |
ORPHA:75249 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Truncal ataxia, Lethargy |
OMIM:130950 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonemia, Coma, ... |
OMIM:212138 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Cognitive impairment, Anemia, Gout, Hyperuricemia |
OMIM:617056 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Acute kidney i... |
ORPHA:810 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Renal sodium wasting, Failure to thrive, Postnatal growth retardation... |
ORPHA:556037 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hyperhomocystinemia, Hypomethioninemia, Gait disturbance, Cystathioninemia, Failure to thrive, Ho... |
ORPHA:395 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Flexion contracture, Hypoalbumi... |
OMIM:617303 |
| Smith-Magenis Syndrome |
|
Gait disturbance, Self-injurious behavior, Hypercholesterolemia, Hypertriglyceridemia, Anxiety, A... |
ORPHA:819 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Facial edema, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated urinary do... |
ORPHA:230 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Ureteral obstruction, Hydronephrosis, Growth delay, Urinary retention, Failure to thrive, Aplasia... |
ORPHA:79404 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... |
ORPHA:88618 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Ogden Syndrome |
|
Torticollis, Shuffling gait, Excessive daytime somnolence, Postnatal growth retardation, Lethargy |
ORPHA:276432 |
| Susac Syndrome |
|
Gait ataxia, Confusion, Lethargy |
ORPHA:838 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
| Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Ataxia, Osteopenia |
OMIM:249310 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Failure to thrive, Spastic gait, Hyperammonemia, Abnormal circulating citrulline ... |
ORPHA:415 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia |
OMIM:600649 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Abnormal circulating thyroglobulin level, Growth delay, Overweight, Lethargy |
ORPHA:99832 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
OMIM:151660 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Oste... |
OMIM:612852 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... |
ORPHA:370 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lipodys... |
OMIM:617099 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Lung abscess, Weight loss, Anemia, Hypoalbuminemia, Liver abscess |
ORPHA:67 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Splenomegaly, Hypocalcemia |
OMIM:235255 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hypercalciu... |
ORPHA:534 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Failure to thrive, Anemia, Decreased serum iron, Abnormal circulating selen... |
ORPHA:89842 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal circulati... |
ORPHA:90674 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Ataxia, Osteopenia |
ORPHA:2479 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus, Liver abscess |
ORPHA:69663 |
| Typhoid |
|
Ataxia, Coma, Lethargy |
ORPHA:99745 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Weight loss, Elevated transferrin saturation, Increased circulat... |
ORPHA:465508 |
| Isolated Complex I Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Proximal tubulopathy, Ataxia, Increased serum... |
ORPHA:2609 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:92050 |
| Avian Influenza |
|
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... |
ORPHA:454836 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Hypoglycemia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cogniti... |
ORPHA:79259 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Coma, Inability to walk, Craniofacial dystonia, Gait ataxia, Confusion, Lethargy |
OMIM:607483 |
| Myxedema |
|
Lethargy |
OMIM:255900 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Weight loss, Anemia, Neutrophilia, Elevated circulating C-reactive protein concent... |
ORPHA:54251 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Staphylococcal Necrotizing Pneumonia |
|
Pleural empyema, Pleural effusion, Elevated circulating C-reactive protein concentration, Confusi... |
ORPHA:36238 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Cerebral edema, Ataxia, Lethargy |
OMIM:618321 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... |
ORPHA:37042 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
| Visceral Steatosis, Congenital |
|
Neonatal death, Coma, Renal steatosis, Hypocalcemia, Lethargy |
OMIM:228100 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Hypocalcemia |
ORPHA:1655 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Lethargy |
OMIM:617397 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Coma, Tip-toe gait, Hypocalcemia, Lethargy |
ORPHA:746 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Anxiety, Cellulitis, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Biotinidase Deficiency |
|
