| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration, Hyperammonemia, Renal insufficiency, Failure to thrive, Lethargy, Coma |
ORPHA:28 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration, Nephrocalcinosis, Lethargy, Medullary nephrocalcinosis, Hypercalciuria, Failure to t... |
OMIM:143880 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Growth delay, Lethargy, Hyperlysinemia, Coma |
OMIM:238750 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration, Methylmalonic aciduria, Failure to thrive |
OMIM:614265 |
| Central Diabetes Insipidus |
|
Dehydration, Excessive daytime somnolence, Failure to thrive, Nocturia, Lethargy, Hyponatremia, W... |
ORPHA:178029 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration, Intrauterine growth retardation, Severe failure to thrive |
OMIM:601410 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration, Nephrocalcinosis, Hypokalemia, Hypercalciuria, Failure to thrive, Growth delay, Dist... |
OMIM:602722 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Ataxia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer... |
ORPHA:158048 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, Lethargy, Failure to thrive, Growth delay |
OMIM:274270 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal salt wasti... |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration, Increased circulating renin level, Hyperkalemia, Failure to thrive, Renal salt wasti... |
OMIM:203400 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Fai... |
OMIM:251120 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased circulating renin level, Hyperuricemia, Increased mean ... |
ORPHA:90041 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased p... |
ORPHA:79159 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia |
OMIM:300971 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Small for gestational age, Chronic kidney disease, Decreased ... |
ORPHA:97362 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... |
ORPHA:26792 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Intrauterine growth retardatio... |
ORPHA:99886 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Enuresis, Dehydration, Glycosuria, Nephropathy, Renal tubular... |
ORPHA:69076 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy, Short stature, Growth delay |
OMIM:618573 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypochloremia, Increased circulating renin level, Hypokalemia, Failure to thrive, Hyponatremia |
OMIM:214700 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste... |
OMIM:620211 |
| Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Glutaric aciduria, Failure to thrive, Ketonuria... |
ORPHA:35706 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration, Increased circulating renin level, Hyperkalemia, Renal sodium wasting, Failure to th... |
ORPHA:556030 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Dicarboxylic acid... |
ORPHA:289504 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration, Failure to thrive |
OMIM:610370 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration, Hyperammonemia, Renal insufficiency, Failure to thrive, Lethargy, Coma |
ORPHA:79312 |
| Glucose-Galactose Malabsorption |
|
Dehydration, Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, H... |
ORPHA:35710 |
| Growth Hormone Insensitivity Syndrome |
|
Diabetes mellitus, Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hypoglycemia |
ORPHA:181393 |
| Posterior Urethral Valve |
|
Recurrent urinary tract infections, Enuresis nocturna, Hydronephrosis, Unilateral renal dysplasia... |
ORPHA:93110 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia |
OMIM:607250 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Ataxia, Cognitive impairment, Loss of ambulation, Dementia, Elevated circulating cre... |
OMIM:208920 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
| Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
| Isovaleric Acidemia |
|
Lethargy, Dehydration, Coma, Hyperglycinuria |
OMIM:243500 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Short stature, Failure to thrive, Hyperlipidemia, Ketonuria, Lethargy |
ORPHA:2089 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration, Hyperammonemia, Excessive daytime somnolence, Elevated circulating creatine kinase c... |
OMIM:212140 |
| N-Acetylglutamate Synthase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Failure to thrive, Confusion, Lethargy, Coma |
OMIM:237310 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration, Hyperammonemia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Methyl... |
OMIM:251000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, A... |
OMIM:267700 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration, Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:264350 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Diabetes mellitus, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Insulin ... |
OMIM:612526 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Lethargy |
ORPHA:254857 |
| Cystinosis |
|
Delayed puberty, Proteinuria, Dehydration, Hypophosphatemia, Renal insufficiency, Nephropathy, Sh... |
ORPHA:213 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Suicidal ideation, Diabetes mellitus, Cognitive im... |
ORPHA:77296 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteoporosis, Hypertriglycer... |
OMIM:610947 |
| Saccharopinuria |
|
Hyperammonemia, Hyperlysinuria, Cognitive impairment, Elevated plasma citrulline, Mental deterior... |
ORPHA:3124 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Myoglobinuria, Neonatal death |
OMIM:602199 |
| Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Lethargy, Intrauterine growth retardation |
OMIM:617065 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Increased urinary potassium, Hypouricemia, Hypokalemia, Bicarbonate-wast... |
ORPHA:3337 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia |
OMIM:306000 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Short stature, Hypokalemia, Isothenuria, Failure to thrive, Distal renal tubula... |
OMIM:611590 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Dehydration, Hyperammonemia, Short stature, Failure to... |
OMIM:606054 |
| Multiple Myeloma |
|
Anemia, Hyperproteinemia, Osteopenia, Splenomegaly, Hypercalcemia, Elevated circulating creatinin... |
ORPHA:29073 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Glycosuria, Failure to thrive |
OMIM:606824 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria, Failure to thrive, Hyperhomocysti... |
OMIM:236270 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hyperalaninemia, Elevated circulating creatine kinase concentration, Aminoac... |
OMIM:619386 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration, Hyperammonemia, Renal insufficiency, Lethargy, Coma |
ORPHA:27 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration, Hyperammonemia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, K... |
OMIM:251110 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Cognitive impairment, Hypercholeste... |
OMIM:616267 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyperchloriduria, Hypokalemia, Failure to thrive, Hyponatremia |
OMIM:613090 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Irritability, Hypertriglycerid... |
ORPHA:247585 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Hypouricemia, Hypokalemia, Proximal tubulopathy, Proteinuria, Chronic ki... |
ORPHA:411634 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema, Abnormal circulating protein concentration, Hypoalbuminemia, Abnormal circula... |
ORPHA:103910 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Growth delay |
OMIM:251850 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase... |
OMIM:616828 |
| Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Chondrocalcinosis, Hypochloremia, Hyperchloriduria, Increased circulat... |
OMIM:601678 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Lethargy, Edema, Neonatal death |
OMIM:610498 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
| Methylmalonic Aciduria, Cbla Type |
|
Dehydration, Hyperammonemia, Methylmalonic acidemia, Elevated urine 3-hydroxypropionic acid level... |
OMIM:251100 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hypernatremia, Hydroureter, Functional abnormality of the bladder, Renal insuf... |
ORPHA:223 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy |
OMIM:615026 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Short stature, Failure to thrive, Hypertonic dehydration, Polyuria |
OMIM:125800 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Small for gestational age, Stage 5 chronic kidney disease, De... |
ORPHA:2260 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration, Hyperammonemia, Failure to thrive, Ketonuria, Growth delay, Coma |
OMIM:615453 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Short stature, Failure to thrive, Hypertonic dehydration, Polyuria |
OMIM:304800 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Decreased circulating renin level, Hyperkalemia |
OMIM:614492 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Hyperkalemia, Osteopetrosis, Cortical sclero... |
OMIM:620366 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Gait disturbance, Progressive cerebellar ataxia, Ataxia,... |
OMIM:277460 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Short stature, Elevated circulating creatine kinase concentration, Lethargy, 3-Me... |
OMIM:618120 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Irritability, ... |
OMIM:603553 |
| Proximal Renal Tubular Acidosis |
|
Dehydration, Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Short... |
ORPHA:47159 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Renal insufficiency, Renal tubular dysfunction, Growth delay, Lethargy, Coma |
ORPHA:289916 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine leve... |
OMIM:210200 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss, Growth delay |
ORPHA:30925 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Os... |
ORPHA:398063 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication, Cerebral edema, Failure to thrive... |
OMIM:237300 |
| Bartter Syndrome, Type 3 |
|
Dehydration, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased uri... |
OMIM:607364 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating thymine concentration, Excessive daytime somnolence, Elevated circulating ur... |
OMIM:222748 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Irritability, Reduced blood urea n... |
OMIM:300539 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Acute kidney injury, Hypochloremia, Nephrocalcinosis, Chronic kidney d... |
ORPHA:89938 |
| Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy, Confusion |
OMIM:606777 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperammonemia, Elevated circulating branched chain amino acid concentration, Failure to thrive, ... |
ORPHA:2394 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Weight loss, Growth delay, Lethargy, Organic aciduria, Coma |
ORPHA:79242 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration, Failure to thrive |
OMIM:616069 |
| Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hemolytic-uremic syndrome, Intrauterine growth retardation, Excessive daytime som... |
ORPHA:2169 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Small for gestational age, Dehydration, Nephrocalcinosis, Reduced renal co... |
OMIM:208085 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Chondrocalcinosis, Hypochloremia, Hyperchloriduria, Increased circulat... |
OMIM:241200 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Familial Hypoaldosteronism |
|
Proximal renal tubular acidosis, Increased circulating renin level, Decreased urinary potassium, ... |
ORPHA:427 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hyperinsulinemia,... |
ORPHA:79237 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Dehydration, Failure to thrive, Renal salt wasting, Hyponatremia |
OMIM:300200 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Cerebral edema, Decreased plasma carnitine, Hyperglycinuria, ... |
OMIM:201450 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypophosphatemia, Dehyd... |
ORPHA:411629 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating L-alloisoleucine concentration, E... |
OMIM:248600 |
| Distal Renal Tubular Acidosis |
|
Hypocitraturia, Dehydration, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesi... |
ORPHA:18 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Intrauterine growth retardation, Failure to thrive |
OMIM:618958 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin... |
OMIM:605711 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Hypokalemia, Osteomalacia, Hypocalcemia, Elevated circulating creatinine con... |
OMIM:179800 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Choreoathetosis, Elevated circulati... |
ORPHA:64753 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Confusion |
OMIM:617900 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
2-ethylhydracylic aciduria, Lethargy |
OMIM:610006 |
| Wolcott-Rallison Syndrome |
|
Dehydration, Hyperammonemia, Chronic kidney disease, Renal insufficiency, Short stature, Hyperbil... |
ORPHA:1667 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoargininemia, Hypernatremia, Hyperammonemia, Hyperglutaminemia, Abnormal urine sebacic acid co... |
OMIM:615751 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperammonemia, Hyperglutaminemia, Delirium, Acute hyperammonemia, Hyperalaninemia, Drowsiness, F... |
ORPHA:927 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Small for gestational age, Large for gestational age... |
ORPHA:324575 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Polyuria, Proximal tubulopathy, Failure to thrive |
OMIM:560000 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Failure to thrive, Hyperornithinemia, Confusion, Homocitrullinuria, Lethargy, Coma |
OMIM:238970 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Cholera |
|
Abnormal blood ion concentration, Acute kidney injury, Decreased urine output, Abnormality of ren... |
ORPHA:173 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:177735 |
| Reticular Dysgenesis |
|
Dehydration, Weight loss, Failure to thrive |
ORPHA:33355 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Decreased plasma total carnitine, Cachexia, Elevated circulating creatine kinase ... |
ORPHA:42 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Large for gestational age, Increased C-peptide level... |
ORPHA:276556 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration, Increased circulating renin level, Failure to thrive in infancy, Hyperkalemia, Propo... |
ORPHA:171876 |
| Citrullinemia, Classic |
|
Oroticaciduria, Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Episodic ammonia intoxication... |
OMIM:215700 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Failure to thrive |
OMIM:250620 |
| Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy |
ORPHA:99828 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... |
OMIM:612736 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Confusion |
OMIM:613002 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria, Failure to thrive, Hyperhomocysti... |
OMIM:614857 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Ataxia, Irritability, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Large for gestational age, Increased C-peptide level... |
ORPHA:276575 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Small for gestational age, Elevated circulating creatinine concentration |
OMIM:616733 |
| Beta-Ketothiolase Deficiency |
|
Reduced consciousness/confusion, Dehydration, Hyperammonemia, Hyperuricemia, Edema, Excessive day... |
ORPHA:134 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Dehydration, Increased circulating renin level, Hyperkalemia |
OMIM:620126 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyperchloriduria, Hypokalemia, Failure to thrive, Hyponatremia |
OMIM:602522 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration, Glycosuria, Moderate albuminuria, Intrauterine growth retardation, Renal tubular dys... |
ORPHA:99885 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Dehydration, Increased circulating renin level, Hyperkalemia |
OMIM:620125 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Renal tubular acidosis, Lethargy, Loss of consciousness, Coma |
ORPHA:156 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal cyst, Polyhydramnios, Renal insufficiency, Neonatal death, Renal dysplasia, Stillbirth, Ren... |
OMIM:614922 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Glycosuria, Renal Fanconi syndrome, Abnormal circulating fatty-acid concentration, H... |
ORPHA:263455 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Proteinuria, Methylmalonic acidemia, Hemolytic-uremic syndrome, Delirium, Renal insufficiency, Ne... |
OMIM:277400 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight, Coma, Drowsiness |
ORPHA:276608 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Dic... |
OMIM:255120 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive, Growth delay |
OMIM:613561 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperammonemia, Acute hyperammonemia, Hyperleucinemia, Failure to thrive, Ketonuria, Decreased pl... |
OMIM:210210 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Hyperammonemia, Hydrops fetalis, Elevated circulating acylcarnitine co... |
OMIM:609015 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Dehydration, Enla... |
OMIM:263200 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... |
OMIM:207750 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Increased C-peptide level, Hyperinsulinemia, Hypertriglyceridemia, Bone cyst, ... |
ORPHA:528 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Citrullinemia Type I |
|
Hyperammonemia, Elevated plasma citrulline, Failure to thrive, Lethargy, Loss of consciousness, Coma |
ORPHA:247525 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Increased C-peptide level, Hypoglycemic coma, Lethargy, Loss of consci... |
ORPHA:276580 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fan... |
OMIM:219800 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Arthritis, Elevated circulating creatinine concentration |
ORPHA:567544 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Eosinophilia, Thromb... |
OMIM:603554 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Inability to walk, Hemophagocytosis, Increased circulating ferritin conce... |
ORPHA:167 |
| Multiple Carboxylase Deficiency |
|
Lethargy, Hyperammonemia, Organic aciduria, Coma |
ORPHA:148 |
| Colchicine Poisoning |
|
Reduced consciousness/confusion, Abnormal blood ion concentration, Dehydration, Hypophosphatemia,... |
ORPHA:31824 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Episodic ammonia intoxication, Elevated circul... |
OMIM:311250 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Galactosemia |
|
Renal insufficiency, Hypergalactosemia, Increased level of galactitol in plasma, Failure to thriv... |
ORPHA:352 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Small for gestational age, Intrauterine growth retardation, Short stature, Severe intrauterine gr... |
ORPHA:231144 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Dehydration, Short stature |
ORPHA:313 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Lethargy, Increased circulating... |
ORPHA:79230 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Failure to thrive |
OMIM:617744 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Hyperuricemia, Elevated circulating creatinine concentration |
OMIM:617056 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Intrauterine g... |
OMIM:617156 |
| Mandibuloacral Dysplasia |
|
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... |
ORPHA:2457 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Intrauterine growth retardati... |
ORPHA:71212 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Hyperalaninemia, Lethargy, Hyperprolinemia |
OMIM:619064 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... |
ORPHA:26793 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperglycemia, Type II diabetes me... |
OMIM:615812 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dehydration, Glomerulopathy, Hyperammonemia, Methylmalonic acidemia, Hemolytic-uremic syndrome, D... |
ORPHA:79282 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hype... |
ORPHA:90065 |
| Microvillus Inclusion Disease |
|
Abnormal renal physiology, Dehydration, Nephrocalcinosis |
ORPHA:2290 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Elevated circulating palmitoleylcarnitine concentration, Unilateral renal agenesis, Intrauterine ... |
ORPHA:79284 |
| Argininosuccinic Aciduria |
|
Oroticaciduria, Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Episodic ammonia intoxication... |
OMIM:207900 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dehydration, Hyperammonemia, Hyperuricemia, Edema, Lethargy, Ketonuria, Hypoglycemic coma, 3-Meth... |
ORPHA:20 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy, Confusion |
ORPHA:71277 |
| Netherton Syndrome |
|
Hydronephrosis, Dehydration, Ectopic kidney, Short stature, Aminoaciduria |
ORPHA:634 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Dehydration, Hyperalaninemia, Excessive daytime somnolence, El... |
ORPHA:3008 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Dehydration, Hypokalemia, Failure to thrive, Increased serum bile acid concentration... |
OMIM:619377 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Lethargy, Increased serum pyruvate, Small for gestational age |
OMIM:312170 |
| Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration |
ORPHA:275555 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... |
ORPHA:90362 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron, Lethargy |
OMIM:602390 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Anemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Secondary Short Bowel Syndrome |
|
Abnormal blood ion concentration, Dehydration, Failure to thrive, Low plasma citrulline, Growth d... |
ORPHA:95427 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Maturity-onset diabetes of the young |
OMIM:616222 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Dehydration, Failure to thrive |
OMIM:214150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive, Growth delay |
OMIM:618226 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Aggressive behavior |
OMIM:608093 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Neuroleptic Malignant Syndrome |
|
Reduced consciousness/confusion, Proteinuria, Acute kidney injury, Dehydration, Hyperuricemia, De... |
ORPHA:94093 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Increased serum pyruvate |
OMIM:246900 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Dehydration, Complex organic aciduria, Hydrops fetalis, Renal Fanconi ... |
OMIM:557000 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Methylmalonic acidemia, Methylmalonic aciduria, Short stature, Homocys... |
OMIM:277380 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
| C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric aciduria, Let... |
OMIM:253270 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Dehydration, Excessive daytime somnolence, Hypokalemia, Unconjugated hyperbi... |
ORPHA:90038 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Lethargy, Increased level of L-fucose in urine, Asc... |
OMIM:215600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased serum pyruvate |
OMIM:618225 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Decreased testicular size, Cryptorchidism, Intrauterine growth reta... |
OMIM:610198 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Neonatal hyperbilirubinemia, Lethargy |
ORPHA:95717 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... |
OMIM:278000 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Head-banging, Self-mutilation, Hypercholesterolemia |
OMIM:182290 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Ketotic hypoglycemia, Anemia, Recurrent hypoglycemia, Osteoporosis, Elevate... |
ORPHA:79240 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Coma, Increased urinary glycerol |
OMIM:229700 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy, Growth delay |
OMIM:274400 |
| Congenital Short Bowel Syndrome |
|
Dehydration, Failure to thrive |
OMIM:615237 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypoproteinemia, Anemia |
ORPHA:2315 |
| Fructose Intolerance, Hereditary |
|
Proximal renal tubular acidosis, Transient aminoaciduria, Hypophosphatemia, Glycosuria, Hyperuric... |
OMIM:229600 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration, Penoscrotal hypospadias, Increased circulating renin level, Hyperkalemia, Failure to... |
ORPHA:90791 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout, Self-mutilation, Hyperuricemia, Elevated circulating creatinine concentration |
ORPHA:79233 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Micropenis, Edema, Polyhydramnios, Rhizomelia, Failure to thrive, Hypo... |
OMIM:607143 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Dehydration, Polyhydramnios, Rhizomelia, Intrauterine growth retardation, Growth delay, 3-Methylg... |
OMIM:616271 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Hypomethioni... |
OMIM:277410 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentratio... |
OMIM:201475 |
| Meningococcal Meningitis |
|
Reduced consciousness/confusion, Renal insufficiency, Elevated circulating C-reactive protein con... |
ORPHA:33475 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine ... |
OMIM:615838 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration |
OMIM:608104 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated... |
ORPHA:159 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration |
OMIM:620138 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Hyperammonemia, Enlarged kidney, Decreased plasma fr... |
OMIM:608836 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Short stature, Increased urinary glycerol, Hypertriglyceridemia, Hyper... |
OMIM:307030 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Nephrocalcinosis |
OMIM:617105 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hyperalaninemia, Hepatosplenomegaly, Increased LDL cholesterol concentration, H... |
ORPHA:470 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Leptospirosis |
|
Thrombocytopenia, Hyperproteinemia |
ORPHA:509 |
| Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Renal insufficiency, Hypermagnesemia, Gr... |
ORPHA:469 |
| Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... |
OMIM:238600 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Growth delay |
OMIM:500007 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypercholesterolemia, Anemia, Osteoporosis, Elevated circulating creatine k... |
ORPHA:264580 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Failure to thrive, Hyperkalemia, Hyponatremia, Weight loss |
ORPHA:90794 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Impaired glucose tolerance, Acroosteolysis of distal phalanges (feet), Calcinosis, Osteolytic def... |
OMIM:248370 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Short stature |
ORPHA:49827 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
| Autosomal Agammaglobulinemia |
|
Dehydration, Failure to thrive |
ORPHA:33110 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Anemia, Elevated circulating creatine kinase concentration, Spleno... |
OMIM:615895 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Edema, Lethargy, Hyponatremia, Ascites |
ORPHA:391673 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Dyspnea, Mitral regurgitation, Syncope, Pulmonary venous hypertension, Tricuspid regurgitation, S... |
ORPHA:75249 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Ethylmalonic aciduria, Failure to thrive |
OMIM:201470 |
| Lysosomal Acid Lipase Deficiency |
|
Dehydration, Abnormal urine potassium concentration, Hypernatriuria, Hyponatremia, Cachexia, Hype... |
ORPHA:275761 |
| Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosis, Renal insufficiency, Hematuria, H... |
OMIM:259900 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased HDL c... |
ORPHA:412 |
| Scrub Typhus |
|
Reduced consciousness/confusion, Renal insufficiency, Lethargy |
ORPHA:83317 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Lethar... |
OMIM:212138 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Lethargy |
ORPHA:255 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Dehydration, Abnormal urine potassium concentration, Hypernatriuria, Increased c... |
ORPHA:168558 |
| Pearson Syndrome |
|
Proteinuria, Small for gestational age, Hypophosphatemia, Dehydration, Glycosuria, Renal cyst, Hy... |
ORPHA:699 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Osteoporosis, Osteomyelitis, Elevated circulating creatinine con... |
ORPHA:232 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia |
OMIM:233910 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Dehydration, Abnormal urine potassium concentration, Hypernatriuria, Increased c... |
ORPHA:289548 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Insulinoma |
|
Reduced consciousness/confusion, Fluctuations in consciousness, Increased body weight, Lethargy, ... |
ORPHA:97279 |
| Smith-Magenis Syndrome |
|
Gait disturbance, Anxiety, Hypertriglyceridemia, Self-injurious behavior, Hypercholesterolemia |
ORPHA:819 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:600649 |
| Shigellosis |
|
Abnormal blood ion concentration, Acute kidney injury, Dehydration, Hemolytic-uremic syndrome, Fa... |
ORPHA:810 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Abnormal renal corticomedullary differentiation, Lethargy, Ascites |
OMIM:617397 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Facial edema, Neonatal hyperbilirubinemia, Lethargy |
ORPHA:95716 |
| Central Neurocytoma |
|
Lethargy, Coma |
ORPHA:73256 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circula... |
ORPHA:230 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal blood ion concentration, Dehydration... |
ORPHA:79404 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Neonatal death |
OMIM:618232 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Hyperkalemia, Renal sodium wasting, Failure to thrive, Postnat... |
ORPHA:556037 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
| Classic Galactosemia |
|
Delayed puberty, Lethargy, Ascites |
ORPHA:79239 |
| Megalocornea-Mental Retardation Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
OMIM:249310 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, S... |
ORPHA:370 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia, Splenomegaly |
OMIM:235255 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Methylmalonic aciduria, Failure to thrive |
OMIM:275350 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... |
OMIM:613095 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Decreased serum zinc, Short stature, Failure to thrive |
OMIM:201100 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Apathy, Cognitive impairment, Anxiety, Progressive neurologic deterioration, Irritability, Memory... |
ORPHA:247691 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
ORPHA:2479 |
| Congenital Tufting Enteropathy |
|
Dehydration, Weight loss, Failure to thrive |
ORPHA:92050 |
| Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Intrauterine growth retardation, Growth delay |
ORPHA:765 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperglycemia, T... |
OMIM:151660 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Hypercholesterolemia |
ORPHA:69663 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Glomerulopathy, Nephrocalcinosis, Multiple renal cysts, Hypokalemia, Proteinuria... |
ORPHA:534 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated transferrin saturation, Joint swelling, Increased circulating ferritin concentration, Ab... |
ORPHA:465508 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Hyperuricemia, Anemia, Chronic neutropenia, Cognitive impa... |
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 |
| Isolated Complex I Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Proximal tubulopathy, Lethargy, Increased ser... |
ORPHA:2609 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Hyperammonemia, Abnormal circulating citrulline concentration, Failure to thrive,... |
ORPHA:415 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Cystathioninemia, Failure to thrive, Hyperhomocystinemia, Hypomethioninemia, Leth... |
ORPHA:395 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly |
ORPHA:1655 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Elevated circulating creatinine concentration |
OMIM:614376 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Cognitive impairment, Increased blood urea nitrogen, Elevated circulating creatin... |
OMIM:235400 |
| Susac Syndrome |
|
Lethargy, Confusion |
ORPHA:838 |
| Fanconi-Bickel Syndrome |
|
Proteinuria, Hypophosphatemia, Glycosuria, Beta 2-microglobulinuria, Hypouricemia, Hypergalactose... |
OMIM:227810 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating C-reactive protein concentration, Elevated circul... |
ORPHA:91547 |
| Staphylococcal Necrotizing Pneumonia |
|
Pleural empyema, Elevated circulating C-reactive protein concentration, Confusion, Pleural effusi... |
ORPHA:36238 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin le... |
ORPHA:90674 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Arthritis, Septic arthritis, Cellulitis, Hypo... |
ORPHA:36234 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemi... |
OMIM:615558 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Ogden Syndrome |
|
Postnatal growth retardation, Lethargy, Excessive daytime somnolence |
ORPHA:276432 |
| Typhoid |
|
Lethargy, Coma |
ORPHA:99745 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
