| Familial Renal Glucosuria |
|
Nephropathy, Glycosuria, Moderate postnatal growth retardation, Recurrent urinary tract infection... |
ORPHA:69076 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Lethargy, Hyper... |
OMIM:143880 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Renal insufficiency, Hyperammonemia, Lethargy, Dehydration |
ORPHA:28 |
| Central Diabetes Insipidus |
|
Depression, Failure to thrive, Hyponatremia, Lethargy, Weight loss, Nocturia, Dehydration |
ORPHA:178029 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration, Methylmalonic aciduria, Failure to thrive |
OMIM:614265 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria, Growth delay |
OMIM:238750 |
| Chronic Hiccup |
|
Depression, Weight loss, Dehydration |
ORPHA:396 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Uraciluria, Growth delay |
OMIM:274270 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, ... |
OMIM:602722 |
| Alpha-Methylacetoacetic Aciduria |
|
Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration |
OMIM:203750 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Hypertriglyceridemi... |
ORPHA:158048 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... |
OMIM:620211 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating palmitoleylcarnitine c... |
OMIM:251120 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Hypercholesterolemia |
OMIM:301033 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Dehydration, Inc... |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Dehydration, Inc... |
OMIM:203400 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:79159 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Failure to thrive, Intrauterine growth retardation, Abnormalit... |
ORPHA:99886 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... |
ORPHA:97362 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Short stature, Lethargy, Growth delay |
OMIM:618573 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hyperkalemia... |
ORPHA:556030 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic aciduria, Failure to thrive, Dicarboxylic aciduria, Dicarboxylic acidemia, Dehydrat... |
ORPHA:289504 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... |
ORPHA:35706 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki... |
OMIM:208920 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Lethargy, Short stature |
ORPHA:2089 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, H... |
ORPHA:35710 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Renal insufficiency, Hyperammonemia, Lethargy, Dehydration |
ORPHA:79312 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... |
OMIM:267700 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Isovaleric Acidemia |
|
Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level, Dehydration |
OMIM:243500 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertr... |
OMIM:612526 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency |
ORPHA:254857 |
| Morgagni-Stewart-Morel Syndrome |
|
Memory impairment, Depression, Hyperuricemia, Hypercholesterolemia, Cognitive impairment, Osteopo... |
ORPHA:77296 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration |
OMIM:264350 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... |
ORPHA:213 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hy... |
ORPHA:247585 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... |
ORPHA:3337 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Lethargy, Hyperglycinemia |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Lethargy, Small for gestational age |
OMIM:617065 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Dehydration, Neonatal death |
OMIM:602199 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Glycosuria, Failure to thrive |
OMIM:606824 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Multiple Myeloma |
|
Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia... |
ORPHA:29073 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomo... |
OMIM:236270 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Lethargy, Isothe... |
OMIM:611590 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulating creati... |
OMIM:619386 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Hyperkalemia, Hyponatremia, Failure to thrive |
OMIM:143860 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalcinosis, Small for gest... |
OMIM:601678 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... |
ORPHA:411634 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Edema, Weight loss, Abnormal circulating protein concentration, Abnormal circula... |
ORPHA:103910 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
| Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hyperglycinemia, H... |
OMIM:606054 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm... |
OMIM:212140 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper... |
OMIM:251000 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulating alpha-f... |
OMIM:616267 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age, Edema, Neonatal death |
OMIM:610498 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Growth ... |
ORPHA:223 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Hyperammonemia, Dehydration |
ORPHA:27 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Failure to thrive, Megacystis, Polyuria, Short stature, Hypertonic dehydration |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Failure to thrive, Megacystis, Polyuria, Short stature, Hypertonic dehydration |
OMIM:304800 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Failure to thrive, Hypomagnesemia, Emotional lability, Hypokalemia, Hy... |
ORPHA:89938 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... |
OMIM:603553 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, ... |
OMIM:618120 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... |
OMIM:620366 |
| Ataxia With Vitamin E Deficiency |
|
Short term memory impairment, Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Dysme... |
OMIM:277460 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemia, Elevated u... |
OMIM:251100 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... |
ORPHA:47159 |
| Dihydropyrimidinase Deficiency |
|
Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thymine level, El... |
OMIM:222748 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... |
OMIM:251110 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss, Growth delay |
ORPHA:30925 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalcinosis, Small for gest... |
OMIM:241200 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec... |
ORPHA:18 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... |
OMIM:300539 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Failure to thrive, Dehydration |
OMIM:616069 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Hyponatremia, Delayed puberty, Renal salt wasting, Dehydration |
OMIM:300200 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Reduced renal corticomedullary d... |
OMIM:208085 |
| Familial Hypoaldosteronism |
|
Failure to thrive, Hyponatremia, Decreased urinary potassium, Lethargy, Proximal renal tubular ac... |
ORPHA:427 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomo... |
OMIM:250940 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... |
ORPHA:411629 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Lethargy, Growth delay |
ORPHA:289916 |
| Severe Canavan Disease |
|
Lethargy, Elevated urine N-acetylaspartic acid level |
ORPHA:314911 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Failure to thrive, Dehydration |
OMIM:618958 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Rickets, Osteomalacia |
OMIM:179830 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F... |
OMIM:605711 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Ascites, Hyperbilirubinemia, Renal insufficiency, Hypera... |
ORPHA:1667 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Reticular Dysgenesis |
|
Weight loss, Failure to thrive, Dehydration |
ORPHA:33355 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Proximal tubulopathy, Polyuria, Failure to thrive |
OMIM:560000 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Decreased urinary neopterin level, Elevated urinary sulfatide level, Lethargy, Hyperphenylalanine... |
OMIM:233910 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi... |
OMIM:210200 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Hyponatremia, Weight loss, Hyperkalemi... |
ORPHA:171876 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:177735 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Cerebral ede... |
OMIM:237300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Failure to thrive, Hyperammonemia, Growth delay, Dehydration |
OMIM:615453 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... |
ORPHA:64753 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Hyperammonemia, Lethargy, Weight loss, Growth delay |
ORPHA:79242 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Medium chain dicarboxylic aciduri... |
OMIM:201450 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... |
OMIM:248600 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Dengue Fever |
|
Lethargy, Hypoproteinemia, Leukopenia, Thrombocytopenia |
ORPHA:99828 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin... |
OMIM:614857 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia, Ataxia |
ORPHA:263501 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Failure to thrive |
OMIM:617872 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Lethargy, Failure to thrive |
OMIM:250620 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Bradykinesia |
OMIM:618683 |
| Cholera |
|
Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, L... |
ORPHA:173 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age |
OMIM:616733 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Elevated circulating creatinine concentration, Arthritis |
ORPHA:567544 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:620126 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Aminoaci... |
OMIM:219800 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios... |
ORPHA:231144 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level |
OMIM:620125 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Lethar... |
OMIM:614922 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Growth delay, Failure to thrive |
OMIM:613561 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cir... |
OMIM:609015 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Renal insufficienc... |
OMIM:263200 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Hypocystinemia |
OMIM:617744 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Bone cyst, Hypercholesterolemia, Hypertriglyceridemia, Diab... |
ORPHA:528 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Methylcobalamin Deficiency Type Cble |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Hypomethioninem... |
ORPHA:2169 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Lamellar Ichthyosis |
|
Short stature, Renal insufficiency, Dehydration |
ORPHA:313 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... |
ORPHA:42 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... |
OMIM:210250 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Abnormality of iron homeostasis, Lethargy, Increased circulating... |
ORPHA:79230 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperornithinemia, Hyperammonemia, Lethargy, Homocitrullinuria |
OMIM:238970 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Ataxia, Hy... |
ORPHA:167 |
| Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Lethargy, Hyperglutaminemia, Hypoargininemia, ... |
OMIM:215700 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Ascites, Intrauterine growth retardation,... |
OMIM:617156 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
OMIM:617056 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
| Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Short stature, Ectopic kidney, Dehydration |
ORPHA:634 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Lethargy, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Hyperammonemia, Hyperuricemia, Apathy, Weight loss, Dehydration |
ORPHA:134 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem... |
ORPHA:26793 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Intrauterine growth retardation, ... |
ORPHA:99885 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Prote... |
OMIM:619377 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Dehydration, Abnormal renal physiology |
ORPHA:2290 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Fail... |
OMIM:210210 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Ataxia |
OMIM:612736 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... |
ORPHA:79284 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Increased serum pyruvate, Hyperalaninemia, Small for gestational age |
OMIM:312170 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Proteinuria, Increased body weig... |
ORPHA:263455 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Low plasma citrulline, Weight loss, Abnormal blood ion concentration, Growth d... |
ORPHA:95427 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... |
ORPHA:71212 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Lethargy, Hyperalaninemia, Short s... |
ORPHA:254913 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Lethargy, Increased C-peptide level, Decrea... |
ORPHA:324575 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating palmitoleylcarnitine c... |
ORPHA:79282 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ... |
OMIM:615925 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Hemochromatosis, Type 2A |
|
Lethargy, Increased circulating iron concentration, Increased circulating ferritin concentration |
OMIM:602390 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Dehydration, Hyperammonemia, Hyperuricemia, Lethargy, Apath... |
ORPHA:20 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Small for gestational age, Failure to thrive |
OMIM:214150 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Memory impairment, Hyperglycemia, Leukocytosis, Hypercholesterolemia, Cognitive impairment, Progr... |
ORPHA:90065 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Growth delay, Failure to thrive |
OMIM:618226 |
| Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia |
OMIM:616222 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Lethargy, Low plasma citrulline, Hyperglutamin... |
OMIM:311250 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... |
OMIM:255120 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Failure to thrive, Hyperbilirubinemia, Lethargy, Renal Fanconi syndrom... |
OMIM:557000 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypernatremia, Failure to thrive, Hyperammonemia, Hyperglutamatemia,... |
ORPHA:3008 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Increased serum pyruvate |
OMIM:246900 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Failure to thrive, El... |
OMIM:277380 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... |
OMIM:207900 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Lipodystrophy |
ORPHA:329918 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Increased C-peptide level, Large for gestational age, Decreased circulating free fatty ... |
ORPHA:276556 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Depression, Obesity |
ORPHA:238624 |
| Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... |
ORPHA:31824 |
| Cirrhosis, Familial |
|
Ascites, Increased level of L-fucose in urine, Lethargy, Increased level of propylene glycol in b... |
OMIM:215600 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Lethargy |
ORPHA:276608 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... |
OMIM:278000 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased serum pyruvate |
OMIM:618225 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Dilated cardiomyopathy, Congestive heart failure, Postnatal growth retardation, Intr... |
OMIM:610198 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Confusion |
ORPHA:54057 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Increased C-peptide level, Large for gestational age, Decreased circulating free fatty ... |
ORPHA:276575 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Lethargy, Renal tubular acidosis |
ORPHA:156 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... |
OMIM:277400 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Ketotic... |
ORPHA:79240 |
| Citrullinemia Type I |
|
Hyperammonemia, Lethargy, Elevated plasma citrulline, Failure to thrive |
ORPHA:247525 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Lethargy, Hyperalanin... |
ORPHA:927 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Lethargy, Low plasma cit... |
OMIM:237310 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypos... |
ORPHA:90791 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomocystinemia, Methylm... |
OMIM:277410 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy, Growth delay |
OMIM:274400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Failure to thrive, Polyhydramnios, Hypocalcemia, Lethargy, Micropenis, Hypospadias, S... |
OMIM:607143 |
| Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia, Diabetes mellitus |
ORPHA:2315 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Intrauterine growth retardation, 3-Methylglutaconic aciduria, Polyhydramnios, Growth ... |
OMIM:616271 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Failure to thrive |
OMIM:608104 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... |
OMIM:201475 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Increased C-peptide level, Large for gestational age |
ORPHA:276580 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Oligohydramnios, Renal ... |
OMIM:608836 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Nephronophthisis 9 |
|
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... |
OMIM:613824 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Growth delay |
OMIM:500007 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C... |
ORPHA:470 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Lethargy |
ORPHA:49827 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Nephrocalcinosis |
OMIM:617105 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Abnormal circulating thyroglobulin concentration, Lethargy, Overweight, Growth delay |
ORPHA:99832 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
| Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Hyperammonemia, Lethargy, 3-hyd... |
OMIM:253270 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Hyponatremia, Weight loss, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythroc... |
ORPHA:264580 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Dehydration |
ORPHA:33110 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent... |
ORPHA:90674 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia |
ORPHA:101150 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemi... |
ORPHA:94093 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
| Lysosomal Acid Lipase Deficiency |
|
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Ascites, Hyponatremia,... |
ORPHA:275761 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Classic Galactosemia |
|
Ascites, Lethargy, Depression, Delayed puberty |
ORPHA:79239 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hyperbilirubinemia,... |
OMIM:229600 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote... |
OMIM:615895 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Abnormal circulating creatin... |
OMIM:615838 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Progressive cla... |
OMIM:248370 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... |
ORPHA:168558 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:600649 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Postnatal growth retardation, Renal insufficiency, Hypocalcemia, Prot... |
ORPHA:699 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... |
ORPHA:159 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ... |
ORPHA:289548 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Lethargy, Abnormal renal corticomedullary differentiation, Pleural effusion |
OMIM:617397 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Neonatal death |
OMIM:618232 |
| Shigellosis |
|
Acute kidney injury, Urethritis, Failure to thrive in infancy, Hyponatremia, Abnormal blood ion c... |
ORPHA:810 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol |
OMIM:229700 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... |
ORPHA:79404 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Lethargy, Hypophosph... |
ORPHA:469 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... |
ORPHA:230 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hyperkalemia... |
ORPHA:556037 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... |
ORPHA:90038 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Smith-Magenis Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Hypercholesterolemia, Hypertriglyceri... |
ORPHA:819 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Depression, Renal in... |
ORPHA:534 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentra... |
ORPHA:95716 |
| Necrotizing Enterocolitis |
|
Ascites, Hyponatremia, Lethargy, Small for gestational age, Edema |
ORPHA:391673 |
| Scrub Typhus |
|
Lethargy, Renal insufficiency |
ORPHA:83317 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Staphylococcal Necrotizing Pneumonia |
|
Confusion, Leukopenia, Leukocytosis, Lethargy, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:36238 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
ORPHA:79233 |
| Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Lethargy, Renal insufficiency |
ORPHA:33475 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Joint swelling, Lethargy, Apathy, Weight loss, Abno... |
ORPHA:465508 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Lethargy, Failure to thrive, Decreased serum zinc |
OMIM:201100 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Dehydration |
ORPHA:92050 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria |
OMIM:212138 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Confusion,... |
ORPHA:36234 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Pyruvate Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Lethargy, Growth delay |
ORPHA:765 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
ORPHA:2479 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Small for gestational age |
ORPHA:275555 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Hyperhomocystinemia, Methylmalonic aciduria, Failure to thrive |
OMIM:275350 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Liver abscess, Diabetes mellitus |
ORPHA:69663 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
| Isolated Complex I Deficiency |
|
Proximal tubulopathy, Failure to thrive, Intrauterine growth retardation, Lethargy, Increased ser... |
ORPHA:2609 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Osteopenia, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyp... |
ORPHA:79259 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Inguinal hernia |
OMIM:614376 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Memory impairment, Depression, Elevated circulating creatinine concentration, Irritability, Cogni... |
ORPHA:247691 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure... |
OMIM:227810 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen, Cog... |
OMIM:235400 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Cystathioninemia, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomocystin... |
ORPHA:395 |
| Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
OMIM:249310 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Postnatal growth retardation, Mitral regurg... |
ORPHA:75249 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Ataxia, Increased circulating renin level |
OMIM:619406 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia, Hypoglycemia |
OMIM:620454 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Confusion, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hyperglycinemia |
OMIM:614299 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Lethargy, Hypertriglyceridemia, Short stature, Hyperglycerolemia, Gro... |
OMIM:307030 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes mellitus,... |
OMIM:176270 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Insulinoma |
|
Increased body weight, Lethargy |
ORPHA:97279 |
| Ogden Syndrome |
|
Postnatal growth retardation, Lethargy |
ORPHA:276432 |
| Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Failure to thrive, Elevated circulating phytanic acid concentration, Intrauterine gr... |
OMIM:614866 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism |
OMIM:154230 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Increased serum pyruvate |
OMIM:604377 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen |
OMIM:223900 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration |
ORPHA:79126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Growth delay, Failure to thrive, 3-hydroxydicarboxylic aciduria, Lethargy, Hyperalaninemia, Lacti... |
OMIM:252010 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Failure to thrive, Obesity, Lethargy, Abdominal obesity, Micropenis |
ORPHA:398079 |
| Biotinidase Deficiency |
|
Hyperammonemia, Lethargy, Organic aciduria |
OMIM:253260 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Depression, Failure to thrive, Bipolar affective disorder, Elevated circulating creatine kinase c... |
ORPHA:254892 |
| Typhoid |
|
Lethargy |
ORPHA:99745 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Lethargy, Abnormal circulating ... |
OMIM:620306 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin concentration, Edema |
ORPHA:226316 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Hyperuricemia, Hyponatremia, Lethargy, Weight loss, Hypercalcemia |
ORPHA:199299 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Oroticaciduria, Hyperornithinemia, Abnormal circulating citrulline concentrati... |
ORPHA:415 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Failure to thrive, Increased body weight, Lethargy, Abdominal obesity, Micropenis, Sh... |
ORPHA:398069 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Edema |
ORPHA:90673 |
| Cystic Fibrosis |
|
Hypercalciuria, Failure to thrive, Dehydration |
OMIM:219700 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Short attention spa... |
OMIM:619991 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Abscess, Splenomegaly, Neutrophilia, Elevated circulating C-reactive pro... |
OMIM:612852 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:618885 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Elevated circulating creatinine concentration, Weight loss, Decreased circulating apolipoprotein ... |
ORPHA:85450 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Lethargy, Hypocalcemia |
ORPHA:746 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
OMIM:174000 |
| Microsporidiosis |
|
Nephritis, Urethritis, Abnormality of the urinary system physiology, Cachexia, Weight loss, Dehyd... |
ORPHA:2552 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... |
OMIM:300972 |
| Encephalitis Lethargica |
|
Urinary incontinence, Lethargy |
ORPHA:83600 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Lethargy, Pleural effusion, Failure to thrive |
OMIM:620233 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Failure to thrive, Angioedema |
OMIM:256500 |
| Biotinidase Deficiency |
|
Hyperammonemia, Lethargy, Organic aciduria |
ORPHA:79241 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... |
OMIM:619644 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... |
ORPHA:54251 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Multiple Endocrine Neoplasia Type 1 |
|
Depression, Nephrolithiasis, Lethargy, Hypercalciuria, Weight loss, Hypercalcemia, Dehydration |
ORPHA:652 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hyperamylase... |
ORPHA:99826 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Gait ataxia, Dysmetria, Hyperc... |
OMIM:606721 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th... |
OMIM:248250 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Elevated circulating creatinine concentration, Weight loss, Increased blood... |
ORPHA:49041 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Elevated circulating creatinine concentration, Reduced haptoglobin level |
OMIM:301110 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Dehydration |
ORPHA:96191 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Vipoma |
|
Ascites, Hypokalemia, Weight loss, Hypercalcemia, Dehydration |
ORPHA:97282 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Sickle Cell Anemia |
|
Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Ost... |
ORPHA:232 |
| Trichinellosis |
|
Facial edema, Lethargy, Apathy, Periorbital edema, Edema |
ORPHA:863 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Dehydration |
ORPHA:2131 |
| Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Mental deterioration, Depression, Falls, Inability to walk, Hyperinsulinemia,... |
ORPHA:273 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral edema, Lethargy |
OMIM:618321 |
| Diamond-Blackfan Anemia |
|
Growth delay, Renal agenesis, Horseshoe kidney, Nonimmune hydrops fetalis, Lethargy, Short statur... |
ORPHA:124 |
| Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Renal cyst, Lethargy, Failure to thrive |
ORPHA:137675 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Joint hypermobility |
OMIM:120330 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Lethargy |
OMIM:607483 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Lethargy, Hyperglycinemia, Hypernatremia |
OMIM:620423 |
| Cardiogenic Shock |
|
Confusion, Elevated circulating creatinine concentration |
ORPHA:97292 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... |
ORPHA:466650 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel... |
OMIM:617099 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Hydranencephaly |
|
Postnatal growth retardation, Lethargy, Intrauterine growth retardation |
ORPHA:2177 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... |
ORPHA:829 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Rickets, Osteomalacia, Elevated circulating creatine k... |
OMIM:309000 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Decreased body weigh... |
ORPHA:340 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Pituitary dwarfism, Lethargy, Overweight, Growth delay |
ORPHA:226307 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
| Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
| Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
| Amoebiasis Due To Free-Living Amoebae |
|
Intrarenal abscess, Cerebral edema, Lethargy |
ORPHA:68 |
| Kufor-Rakeb Syndrome |
|
Urinary incontinence, Lethargy, Bradykinesia, Apathy |
ORPHA:306674 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly,... |
OMIM:620565 |
| Eisenmenger Syndrome |
|
Generalized edema, Abnormal circulating B-type natriuretic peptide concentration, Ascites, Periph... |
ORPHA:97214 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Hyperbilirubinemia, Growth delay, Increased circulating thyroglobulin concentration |
OMIM:218700 |
| Semilobar Holoprosencephaly |
|
Depression, Failure to thrive, Lethargy, Apathy, Short stature, Growth delay |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Depression, Failure to thrive, Lethargy, Apathy, Short stature, Growth delay |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Failure to thrive, Lethargy, Apathy, Short stature, Growth delay |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Depression, Failure to thrive, Lethargy, Apathy, Short stature, Growth delay |
ORPHA:93924 |
| Medulloblastoma |
|
Lethargy |
ORPHA:616 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia |
OMIM:137920 |
| Juvenile Polyposis Syndrome |
|
Anemia, Hypoproteinemia, Brain abscess |
ORPHA:2929 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia, Sterile abscess, Neutro... |
ORPHA:3243 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:449395 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Chorioretinal scar, Elevated circulating creatinine concentration, Weight loss, El... |
ORPHA:91500 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ... |
OMIM:249100 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... |
OMIM:619534 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
