| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive |
ORPHA:28 |
| Central Diabetes Insipidus |
|
Hyponatremia, Dehydration, Weight loss, Depression, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Chronic Hiccup |
|
Weight loss, Dehydration, Depression |
ORPHA:396 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Hypokalemia, Distal renal tubular ac... |
OMIM:602722 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Lethargy, Uraciluria, Failure to thrive |
OMIM:274270 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder |
OMIM:301033 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... |
OMIM:610600 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... |
OMIM:203400 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... |
ORPHA:79159 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Short stature, Proteinuria, Small for gestational age, Edema, Ch... |
ORPHA:97362 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, Increased level of methy... |
ORPHA:26792 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality of the urinary sys... |
ORPHA:99886 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... |
ORPHA:289504 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Dehydration, Increased circulating reni... |
ORPHA:556030 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Ketonuria, Glutaric aciduria, Abnormality of ci... |
ORPHA:35706 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... |
ORPHA:35710 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... |
OMIM:208920 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive |
ORPHA:79312 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Osteoporosis, Depression, Memory impairment, Hyperostosis frontalis interna, H... |
ORPHA:77296 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Failure to thrive |
OMIM:264350 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... |
OMIM:222748 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... |
OMIM:612526 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency |
ORPHA:254857 |
| Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Dehydration, Hypophosphatemia, Renal tubular dys... |
ORPHA:213 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... |
ORPHA:247585 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
| Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 40 |
|
Intrauterine growth retardation, Small for gestational age, Lethargy |
OMIM:617065 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
| Isovaleric Acidemia |
|
Lethargy, Hyperglycinuria, Dehydration |
OMIM:243500 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... |
ORPHA:3337 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, D... |
OMIM:251000 |
| Saccharopinuria |
|
Citrullinuria, Mental deterioration, Hypercystinemia, Hyperammonemia, Cystinuria, Gait ataxia, Hy... |
ORPHA:3124 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... |
ORPHA:29073 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:236270 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperalaninemia, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperam... |
OMIM:619386 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Short stature, Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Letharg... |
OMIM:611590 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... |
OMIM:616267 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Short stature, Hyperglycinuria, Hyperammonemia, Dehydr... |
OMIM:606054 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age, Edema |
OMIM:610498 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Po... |
ORPHA:223 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... |
OMIM:212140 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Hyperammonemia, Dehydration |
ORPHA:27 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Dehydration, Hyperglyc... |
OMIM:251110 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive |
OMIM:304800 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutac... |
OMIM:618120 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... |
OMIM:241600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Weight loss |
ORPHA:30925 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Polyhydramnios, Renal salt wasting, I... |
ORPHA:89938 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting, Dehydration, Delayed puberty, Failure to thrive |
OMIM:300200 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Dehydration, Nephrocalcinosis, Renal tu... |
OMIM:208085 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Galactokinase Deficiency |
|
Psychomotor deterioration, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... |
ORPHA:79237 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Failure to thrive, Dehydration |
OMIM:618958 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction, Lethargy |
ORPHA:289916 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L... |
OMIM:605711 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Short stature, Chronic kidney disease, Hyperammonemia, Dehydra... |
ORPHA:1667 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Hyperalaninemia, Ketonuria, Hypoargininemia, Hyperglutami... |
OMIM:615751 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... |
OMIM:210200 |
| Reticular Dysgenesis |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:33355 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Lethargy, F... |
OMIM:237300 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Hyperkalemia, Dehydratio... |
ORPHA:171876 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Lethargy |
ORPHA:79242 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hyperammonemia, Dehydration, Growth delay, Failure to thrive |
OMIM:615453 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Failure to thrive |
OMIM:250620 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Dengue Fever |
|
Lethargy, Thrombocytopenia, Hypoproteinemia, Leukopenia |
ORPHA:99828 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Growth de... |
OMIM:614857 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration |
OMIM:616733 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo... |
ORPHA:173 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620126 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:602522 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620125 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... |
OMIM:614922 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema |
OMIM:201450 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Lethargy, Failure to thrive |
OMIM:613561 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Bone cyst, Hyperinsulinemia, Hyperch... |
ORPHA:528 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Citrullinemia, Classic |
|
Failure to thrive, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxicati... |
OMIM:215700 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Arthritis, Elevated circulating creatinine concentration, Synovitis |
ORPHA:567544 |
| Cystinosis, Nephropathic |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... |
OMIM:219800 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Postnatal growth retardation, Hemolytic-uremic syndrome, Hyper... |
ORPHA:2169 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Dehydration |
ORPHA:313 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... |
ORPHA:167 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormal... |
ORPHA:79230 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria |
OMIM:238970 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:617056 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated hyperbilirubinemia, ... |
OMIM:617156 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Hyperammonemia, Weight loss, Dehydration, Apathy, Hyperuricemia |
ORPHA:134 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Hyperhomocystinemia, Growth... |
ORPHA:79284 |
| Netherton Syndrome |
|
Short stature, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis |
ORPHA:634 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinem... |
OMIM:210210 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Hype... |
ORPHA:90065 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia |
OMIM:612736 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... |
OMIM:619377 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Lethargy, Increased serum pyruvate, Small for gestational age |
OMIM:312170 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R... |
ORPHA:99885 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
| Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration |
ORPHA:275555 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... |
OMIM:311250 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... |
ORPHA:79282 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... |
ORPHA:71212 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
| Hemochromatosis, Type 2A |
|
Lethargy, Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
| Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Le... |
ORPHA:254913 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
| Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
| Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Growth delay, ... |
ORPHA:95427 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Growth delay, Lethargy, Failure to thrive |
OMIM:618226 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Dehydration |
OMIM:214150 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Edema, Hyperammonemia, Weight loss, Dehydration, 3-Methylglutaric aciduria, Apathy, Hy... |
ORPHA:20 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy |
OMIM:246900 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Short stature, Small for gestational age, Cystathioninuria, Methylmalonic... |
OMIM:277380 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduri... |
OMIM:557000 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... |
ORPHA:3008 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276556 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
| C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
| Argininosuccinic Aciduria |
|
Failure to thrive, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxicati... |
OMIM:207900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy |
OMIM:618225 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Cirrhosis, Familial |
|
Lethargy, Ascites, Increased level of L-fucose in urine, Increased level of propylene glycol in b... |
OMIM:215600 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... |
OMIM:610198 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276575 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... |
ORPHA:79240 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Lethargy, Transient hyperlipidemia |
ORPHA:156 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Confusion |
ORPHA:54057 |
| Citrullinemia Type I |
|
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:247525 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy |
OMIM:274400 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Leth... |
ORPHA:927 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... |
ORPHA:90791 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypoproteinemia, Anemia |
ORPHA:2315 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Hypospadias, Small for gestational age, Edema, Polyhydramnios, Hypocalcemia, Lethargy... |
OMIM:607143 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, 3-Methylglutaconic aciduria, Intrauterine ... |
OMIM:616271 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:277410 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level |
ORPHA:276580 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Organic aciduria, Lethargy, 3-hyd... |
OMIM:253270 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating s... |
ORPHA:470 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Lethargy |
OMIM:617105 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... |
OMIM:201475 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy |
OMIM:500007 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive |
ORPHA:90794 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Osteopenia, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes me... |
OMIM:248370 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Short stature |
ORPHA:49827 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... |
OMIM:259900 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Dehydration |
ORPHA:33110 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Edema, Lethargy, Ascites |
ORPHA:391673 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... |
OMIM:615895 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Postnatal g... |
ORPHA:75249 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Depression, Attention deficit hyperactivity dis... |
ORPHA:90674 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... |
ORPHA:412 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po... |
ORPHA:275761 |
| Classic Galactosemia |
|
Lethargy, Ascites, Depression, Delayed puberty |
ORPHA:79239 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine ... |
OMIM:615838 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Dehydrati... |
ORPHA:168558 |
| Sickle Cell Anemia |
|
Osteoporosis, Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbil... |
ORPHA:232 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia |
OMIM:233910 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol |
OMIM:229700 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Postnatal growth retardation, Lactic... |
ORPHA:699 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Dehydrati... |
ORPHA:289548 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy, Pleural effusion, Ascites, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Abnormal blood... |
ORPHA:810 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... |
ORPHA:469 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Dehydration, Incr... |
ORPHA:230 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance, Attention deficit hyperactivity dis... |
ORPHA:819 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Gl... |
ORPHA:534 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Depression, Growth delay, Lethargy, Abnormal circulating thyroglobulin level |
ORPHA:99832 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Dehydration, Hemoglobinuria,... |
ORPHA:90038 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556037 |
| Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
OMIM:249310 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Joint... |
ORPHA:465508 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Confusion, Elevated... |
ORPHA:36234 |
| Meningococcal Meningitis |
|
Lethargy, Renal insufficiency, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Methylmalonic aciduria |
OMIM:275350 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Ataxia |
ORPHA:2479 |
| Scrub Typhus |
|
Lethargy, Renal insufficiency |
ORPHA:83317 |
| Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Intrauterine growth retardation, Lethargy |
ORPHA:765 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Decreased serum zinc, Failure to thrive, Short stature |
OMIM:201100 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Short stature, Hypertriglyceridemia, Hyperglycerolemia, Small for ges... |
OMIM:307030 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concentration... |
ORPHA:36238 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus, Liver abscess |
ORPHA:69663 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... |
ORPHA:79259 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Proximal tubulopathy, Intrauterine growth retardation, Failure to thriv... |
ORPHA:2609 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive, Homocystin... |
ORPHA:395 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Progressive neurologic deterioration, Elevated circulating creatinine concentration, Depression, ... |
ORPHA:247691 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Elevated circulating creatinine concentration |
OMIM:614376 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Postnatal growth retardation, Hypercalci... |
OMIM:227810 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly |
ORPHA:1655 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl... |
OMIM:235400 |
| Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| 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 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen |
OMIM:274150 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hyperglycinemia |
OMIM:614299 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Palpebral edema, Conjugated hyperbilirubinemia, Elevated ... |
OMIM:614866 |
| Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Ogden Syndrome |
|
Postnatal growth retardation, Lethargy |
ORPHA:276432 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy |
OMIM:604377 |
| Biotinidase Deficiency |
|
Lethargy, Organic aciduria, Hyperammonemia |
OMIM:253260 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Lethargy, Failure to thrive |
ORPHA:199299 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Obesity, Abdominal obesity, Lethargy, Micropenis, Failure to thrive |
ORPHA:398079 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Elevated circulating creatine kinase concentration, Edema, Depression... |
ORPHA:254892 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circu... |
OMIM:620306 |
| Typhoid |
|
Lethargy |
ORPHA:99745 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level, Edema |
ORPHA:226316 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperammonemia, Hyperornithinemia, Lethargy, Oroticaciduria, Abnormal circulat... |
ORPHA:415 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hyperalaninemia, Hypospadias, Lacticaciduria, Growth delay, Letha... |
OMIM:252010 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Xerostomia, Increased body weight, Abdominal obesity, Lethargy, Micropenis, Failur... |
ORPHA:398069 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenom... |
OMIM:612852 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema |
ORPHA:90673 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Microsporidiosis |
|
Cachexia, Urethritis, Dehydration, Weight loss, Abnormality of the urinary system physiology, Nep... |
ORPHA:2552 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:174000 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Encephalitis Lethargica |
|
Lethargy, Urinary incontinence |
ORPHA:83600 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Cystic Fibrosis |
|
Failure to thrive, Hypercalciuria, Dehydration |
OMIM:219700 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Nephrolithiasis, Hypercalciuria, Depression, Weight loss, Dehydration, Lethargy |
ORPHA:652 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Failure to thrive |
OMIM:256500 |
| Biotinidase Deficiency |
|
Lethargy, Organic aciduria, Hyperammonemia |
ORPHA:79241 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
| Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Postnatal growth retardation, Intrauterine growth retardation, Dehydration, Oligohydramnios |
ORPHA:96191 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Dysmetria, Gait ataxia, Glu... |
OMIM:606721 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Lethargy, Pleural effusion, Failure to thrive |
OMIM:620233 |
| Vipoma |
|
Hypercalcemia, Dehydration, Weight loss, Hypokalemia, Ascites |
ORPHA:97282 |
| Trichinellosis |
|
Edema, Facial edema, Periorbital edema, Apathy, Lethargy |
ORPHA:863 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
| Steinert Myotonic Dystrophy |
|
Short attention span, Diabetes mellitus, Inability to walk, Insulin resistance, Hyperinsulinemia,... |
ORPHA:273 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Dehydration |
ORPHA:2131 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Cerebral edema |
OMIM:618321 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Confusion |
ORPHA:97292 |
| Diamond-Blackfan Anemia |
|
Renal agenesis, Short stature, Hypospadias, Small for gestational age, Nonimmune hydrops fetalis,... |
ORPHA:124 |
| Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive, Renal cyst, Pulmonary edema |
ORPHA:137675 |
| Papillorenal Syndrome |
|
Joint laxity, Elevated circulating creatinine concentration |
OMIM:120330 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Overweight, Facial edema, Growth delay, Lethargy, Abnormal circulating thyrog... |
ORPHA:226307 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
| Hydranencephaly |
|
Postnatal growth retardation, Intrauterine growth retardation, Lethargy |
ORPHA:2177 |
| Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Decrea... |
ORPHA:340 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
| Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Intrarenal abscess, Cerebral edema |
ORPHA:68 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
| Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy, Urinary incontinence |
ORPHA:306674 |
| Eisenmenger Syndrome |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Pedal edema, Peripher... |
ORPHA:97214 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Semilobar Holoprosencephaly |
|
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive |
ORPHA:93924 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:137920 |
| Medulloblastoma |
|
Lethargy |
ORPHA:616 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
| Juvenile Polyposis Syndrome |
|
Brain abscess, Hypoproteinemia, Anemia |
ORPHA:2929 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
| Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
