| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Coma, Failure to thrive, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy |
ORPHA:28 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Dehydration,... |
OMIM:143880 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Coma, Dibasicaminoaciduria, Hyperammonemia, Growth delay, Lethargy |
OMIM:238750 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
| Central Diabetes Insipidus |
|
Weight loss, Nocturia, Failure to thrive, Excessive daytime somnolence, Dehydration, Hyponatremia... |
ORPHA:178029 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Growth delay, Dehydration, Nephroc... |
OMIM:602722 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ata... |
ORPHA:158048 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
OMIM:607250 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Growth de... |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive, Growth de... |
OMIM:203400 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... |
OMIM:615703 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure ... |
OMIM:251120 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Lethargy, Growth delay, Uraciluria |
OMIM:274270 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Elevated circulating acylcarnitine concentration, Dicarboxylic acidur... |
ORPHA:79159 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Small for gestational age, Glycos... |
ORPHA:97362 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Ethylmalonic aciduria, Letha... |
ORPHA:26792 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Failure to thrive, Dehydration, Abnormality... |
ORPHA:99886 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy, Growth delay, Short stature |
OMIM:618573 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath... |
ORPHA:69076 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... |
ORPHA:556030 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Glutaric aciduria, Elevate... |
ORPHA:35706 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Dehydration, Renal insufficiency, Hyper... |
ORPHA:35710 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
ORPHA:94124 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Coma, Failure to thrive, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy |
ORPHA:79312 |
| Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic acidemia, Dicarboxylic aciduria, Dicarboxylic acidemia, Failure to thrive, Dehydrat... |
ORPHA:289504 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia |
ORPHA:181393 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Dementia, Elevated circulating cr... |
OMIM:208920 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Chronic Hiccup |
|
Weight loss, Dehydration |
ORPHA:396 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Isovaleric Acidemia |
|
Coma, Lethargy, Hyperglycinuria, Dehydration |
OMIM:243500 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Lethargy |
ORPHA:2089 |
| Carnitine Deficiency, Systemic Primary |
|
Coma, Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circulating creatine kinase con... |
OMIM:212140 |
| N-Acetylglutamate Synthase Deficiency |
|
Coma, Failure to thrive, Hyperammonemia, Confusion, Lethargy, Increased level of L-glutamic acid ... |
OMIM:237310 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Coma, Stage 5 chronic kidn... |
OMIM:251000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Lethargy |
ORPHA:79283 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi... |
OMIM:267700 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Small for gestational age, Coma, Increased urinary glycerol,... |
OMIM:307030 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia, Dehydration |
OMIM:264350 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... |
OMIM:612526 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Lethargy |
ORPHA:254857 |
| Cystinosis |
|
Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Dela... |
ORPHA:213 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Cognitive impairment, Suicidal ideation, Hyperostosis frontalis interna, Diabetes ... |
ORPHA:77296 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... |
OMIM:610947 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Hyperlysinuria, Cognitive impairment, Citrullinuria, Abnormality of ... |
ORPHA:3124 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Lethargy, Intrauterine growth retardation |
OMIM:617065 |
| Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
| Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,... |
ORPHA:3337 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Lethargy |
ORPHA:622 |
| Multiple Myeloma |
|
Anemia, Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemi... |
ORPHA:29073 |
| Propionic Acidemia |
|
Hyperglycinemia, Short stature, Coma, Failure to thrive, Increased level of hippuric acid in urin... |
OMIM:606054 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Hypokalemia, Isothenuria, Distal renal tubular acidosis, Failure to thrive, Nephro... |
OMIM:611590 |
| Glucose/Galactose Malabsorption |
|
Glycosuria, Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypernatremic dehydration |
OMIM:143860 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... |
OMIM:619386 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Lethargy, Meth... |
OMIM:236270 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Hyperammonemia, Dehydration, Renal insufficiency, Lethargy |
ORPHA:27 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholeste... |
OMIM:616267 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Coma, Failure to thrive, Hyperammonemia, Dehy... |
OMIM:251110 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Weight loss, Edema, Dehydration, Abnormal circ... |
ORPHA:103910 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
| Citrullinemia Type Ii |
|
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... |
ORPHA:247585 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat... |
OMIM:616828 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:601678 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Nephrogenic Diabetes Insipidus |
|
Polyhydramnios, Hyposthenuria, Enuresis nocturna, Short stature, Hypernatremic dehydration, Hydro... |
ORPHA:223 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Lethargy |
ORPHA:26 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Edema, Neonatal death, Lethargy |
OMIM:610498 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Coma, Failure to thrive, Hyperammonemia, Dehy... |
OMIM:251100 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Hypertonic dehydration, Failure to thrive, Polyuria, Megacystis, Hypernatremia |
OMIM:125800 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... |
ORPHA:2260 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Hypertonic dehydration, Failure to thrive, Polyuria, Megacystis, Hypernatremia |
OMIM:304800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Coma, Failure to thrive, Hyperammonemia, Growth delay, Dehydration |
OMIM:615453 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Dysdiadochokinesis, Gait disturbance, Short term memory impairment, Ataxia,... |
OMIM:277460 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Irritability, Ataxia, Hepatosplenomegaly, Pancytop... |
OMIM:603553 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... |
ORPHA:47159 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... |
OMIM:241600 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Coma, Hyperammonemia, Growth delay, Renal insufficiency, Lethargy, Renal tubular dysfunction |
ORPHA:289916 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Coma, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated ... |
OMIM:210200 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Growth delay, Weight loss |
ORPHA:30925 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Bartter Syndrome, Type 3 |
|
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... |
OMIM:607364 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Cerebral edema, Coma, Episodic ammonia intoxication, Failure to thrive, Hyperammonemia, Lethargy,... |
OMIM:237300 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Short stature, Elevated circulating creatine kinase concentration, H... |
OMIM:618120 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Oligohyd... |
OMIM:208085 |
| Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Polyhydramnios, Small for gestational age, Acute kidney inj... |
ORPHA:89938 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Lethargy |
OMIM:618228 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss, Coma, Organic aciduria, Hyperammonemia, Growth delay, Lethargy |
ORPHA:79242 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Confusion, Lethargy |
OMIM:606777 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Failure to thrive, Dehydration |
OMIM:616069 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Exce... |
OMIM:222748 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, Elevated plasma br... |
ORPHA:2394 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:241200 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Renal salt wasting, Proximal renal tubular acidosis, Increased circulating renin le... |
ORPHA:427 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Drowsiness, Hyperhomocystinemia, Hypomethioninemia, Fa... |
ORPHA:2169 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Failure to thrive, Delayed puberty, Hyponatremia, Dehydration |
OMIM:300200 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Psychomotor deterio... |
ORPHA:79237 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... |
ORPHA:411629 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... |
ORPHA:18 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Cerebral edema, Coma, Decreased plasma carnitine, Lethargy, Hyperglycinuria, Medium chain dicarbo... |
OMIM:201450 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:618958 |
| Maple Syrup Urine Disease |
|
Cerebral edema, Coma, Increased level of hippuric acid in urine, Elevated plasma branched chain a... |
OMIM:248600 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... |
OMIM:179800 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... |
ORPHA:64753 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin... |
OMIM:605711 |
| Wolcott-Rallison Syndrome |
|
Decreased body weight, Short stature, Hyperbilirubinemia, Hyperammonemia, Growth delay, Dehydrati... |
ORPHA:1667 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
2-ethylhydracylic aciduria, Lethargy |
OMIM:610006 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Drowsiness, Small for gestational age, Decreased circulating free fatt... |
ORPHA:324575 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Cholera |
|
Abnormality of renal excretion, Hyponatremia, Acute kidney injury, Decreased urine output, Hypoka... |
ORPHA:173 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Dehydration |
OMIM:177735 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Coma, Homocitrullinuria, Failure to thrive, Hyperammonemia, Hyperornithinemia, Confusion, Lethargy |
OMIM:238970 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Large for ges... |
ORPHA:276556 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:33355 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Delirium, Drowsiness, Coma, Acute hyperammonemia, Failure to thrive, Hyperammone... |
ORPHA:927 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Dehydration, Proporti... |
ORPHA:171876 |
| Dengue Fever |
|
Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Aminoaciduria, Lethargy |
OMIM:250620 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Coma, Cachexia, Dicarboxylic aciduria, Elevated circulati... |
ORPHA:42 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
| Citrullinemia, Classic |
|
Cerebral edema, Coma, Episodic ammonia intoxication, Oroticaciduria, Failure to thrive, Hyperammo... |
OMIM:215700 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Elevated circu... |
OMIM:614857 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Bradykinesia |
OMIM:618683 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration |
OMIM:617872 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Drowsiness, Decreased circulating free fatty acid level, Large for ges... |
ORPHA:276575 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Flexion contracture |
OMIM:616733 |
| Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Ketonuria, Coma, Edema, Excessive daytime somnolence, Hyperammonemia,... |
ORPHA:134 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration |
OMIM:620126 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irritability |
ORPHA:263501 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Ketonuria, Coma, Glycosuria, Abnormality of the upper urinary tract, Moderate albumi... |
ORPHA:99885 |
| 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 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Coma, Transient hyperlipidemia, Loss of consciousness, Lethargy |
ORPHA:156 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Renal Fanconi syndrome, Drowsiness, Coma, Glycosuria, Large for gestational age, Abnormal circula... |
ORPHA:263455 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Aggressive behavior, Elevated circulating guanidinoacetic acid concen... |
OMIM:612736 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Coma, Lethargy, Drowsiness, Increased body weight |
ORPHA:276608 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Renal insufficiency, Delirium, Cystathioninuri... |
OMIM:277400 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Failure to thrive, Lethargy, Growth delay |
OMIM:613561 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperleucinemia, Ketonuria, Coma, Decreased plasma carnitine, Acute hyperammonemia, Organic acidu... |
OMIM:210210 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Coma, Dicarboxylic aciduria, Elevated circulating creatine kinase concent... |
OMIM:255120 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Oligohydramni... |
OMIM:263200 |
| Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hyperinsulinemia, Insulin resistance, Bone cyst, Diabetes mellitus, Hy... |
ORPHA:528 |
| Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
| Citrullinemia Type I |
|
Coma, Failure to thrive, Hyperammonemia, Loss of consciousness, Lethargy, Elevated plasma citrulline |
ORPHA:247525 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Drowsiness, Large for gestational age, Hypoglycemic coma, Loss of cons... |
ORPHA:276580 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Arthritis, Synovitis, Elevated circulating creatinine concentration |
ORPHA:567544 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Hydrops fetalis, Small for gestational age, Ele... |
OMIM:609015 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... |
OMIM:603554 |
| Chédiak-Higashi Syndrome |
|
Inability to walk, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morphol... |
ORPHA:167 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Colchicine Poisoning |
|
Hyponatremia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Olig... |
ORPHA:31824 |
| Multiple Carboxylase Deficiency |
|
Coma, Hyperammonemia, Lethargy, Organic aciduria |
ORPHA:148 |
| Hemochromatosis Type 2 |
|
Elevated transferrin saturation, Lethargy, Abnormality of iron homeostasis, Increased circulating... |
ORPHA:79230 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Dehydration |
ORPHA:313 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Oligohydramnios, Failure to thrive, Severe intrauterine... |
ORPHA:231144 |
| Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... |
OMIM:210250 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Polyhydramnios, Hypermethioninemia, 4-hydroxyphenylacetic aciduria, Hyperbilirubinemia, Failure t... |
OMIM:617156 |
| Galactosemia |
|
Renal insufficiency, Hypergalactosemia, Increased level of galactitol in plasma, Failure to thriv... |
ORPHA:352 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysis of distal phalanges... |
ORPHA:2457 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Cerebral edema, Coma, Elevated circulating uracil concentration, Episodic ammonia intoxication, O... |
OMIM:311250 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... |
ORPHA:71212 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Elevated circulating creat... |
ORPHA:26793 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hydrops fetalis, Methylmalonic aciduria, Delirium, Met... |
ORPHA:79282 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Progressive neurologic deterioration, Leukocytosis, Hypercholesterolemia, H... |
ORPHA:90065 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Unilateral renal ag... |
ORPHA:79284 |
| Netherton Syndrome |
|
Aminoaciduria, Short stature, Ectopic kidney, Dehydration, Hydronephrosis |
ORPHA:634 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Ketonuria, Coma, Edema, Hypoglycemic coma, Hyperammonemia, Dehydratio... |
ORPHA:20 |
| Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Failure to thrive, Increased serum bile... |
OMIM:619377 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Cerebral edema, Coma, Episodic ammonia intoxication, Oroticaciduria, Failure to th... |
OMIM:207900 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Lethargy |
ORPHA:71277 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... |
ORPHA:90362 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Hyperalaninemia, Lethargy, Increased serum pyruvate |
OMIM:312170 |
| Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration |
ORPHA:275555 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Coma, Hypertaurinemia, Lacticaciduria, Failure... |
ORPHA:3008 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
| Hemochromatosis, Type 2A |
|
Lethargy, Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... |
OMIM:615925 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Abnormal blood ion concentration, Failure to thrive, Growth delay, Dehydration, Low ... |
ORPHA:95427 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Failure to thrive, Dehydration |
OMIM:214150 |
| Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
| Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia |
OMIM:616222 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Aggressive behavior, Hypoproteinemia |
OMIM:608093 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Lethargy, Growth delay |
OMIM:618226 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Delirium, Hyponatremia, Coma, Acute kidne... |
ORPHA:94093 |
| Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Renal Fanconi syndrome, Small for gestational age, Hyperbilirubinemia, Failure t... |
OMIM:557000 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Increased serum pyruvate |
OMIM:246900 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Cystathioninuria, Methylmalonic acidemia, Small for gestational age, Short stat... |
OMIM:277380 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Lethargy |
OMIM:614922 |
| Holocarboxylase Synthetase Deficiency |
|
Coma, 3-hydroxyisovaleric aciduria, Organic aciduria, Hyperammonemia, Elevated urinary 3-methylcr... |
OMIM:253270 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Coma, Hemoglobinuria, Acute kidney injury, Unconjugated hyperbilirubinemia, Hypokalemia, ... |
ORPHA:90038 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Ascites, Lethargy, Increased level of propylene glycol in b... |
OMIM:215600 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased serum pyruvate |
OMIM:618225 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Decreased testicular size, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:610198 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Failure to thrive, Lethargy |
OMIM:611523 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Head-banging, Self-mutilation, Hypercholesterolemia |
OMIM:182290 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy, Growth delay |
OMIM:274400 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia, Facial edema |
ORPHA:95717 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Coma, Lethargy, Increased urinary glycerol |
OMIM:229700 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Anemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, R... |
ORPHA:79240 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Anemia, Hypoproteinemia |
ORPHA:2315 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Coma, Glycosuria, Hyperphosphaturia... |
OMIM:229600 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hypospadi... |
ORPHA:90791 |
| Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout, Elevated circulating creatinine concentration, Hyperuricemia, Self-mutilation |
ORPHA:79233 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, 3-Methylglutaconic aciduria, Rhizomelia, Growth delay, Dehydration, Intrauterine ... |
OMIM:616271 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Lethargy, Methylmalonic aciduria,... |
OMIM:277410 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Decreased plasma carnitine, Dicarboxylic aciduria, Elevated circu... |
OMIM:201475 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Meningococcal Meningitis |
|
Drowsiness, Elevated circulating C-reactive protein concentration, Reduced consciousness/confusio... |
ORPHA:33475 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:615838 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Renal dysplasia, Enlarged kidney, Pol... |
OMIM:608836 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Coma, Decreased plasma carnitine, Dicarboxylic ... |
ORPHA:159 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
| Hereditary Fructose Intolerance |
|
Hyperuricemia, Coma, Hypophosphatemia, Hypermagnesemia, Growth delay, Renal insufficiency, Lethar... |
ORPHA:469 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Growth delay |
OMIM:500007 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Progressive clavicular acroosteolysi... |
OMIM:248370 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Hyperkalemia, Failure to thrive, Hypochloremia, Hyponatremia |
ORPHA:90794 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Lethargy |
OMIM:617105 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase con... |
ORPHA:264580 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Short stature |
ORPHA:49827 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:96184 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Lethargy, Increased serum zinc, Intra... |
ORPHA:470 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Anemia, Elevated circulating creatine kinase concentration, Hypoproteinemia, Leukocytosis, Spleno... |
OMIM:615895 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Dehydration |
ORPHA:33110 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Edema, Hyponatremia, Ascites, Lethargy |
ORPHA:391673 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia |
ORPHA:101150 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypercholesterolemia, Weight loss, Cachexia, Hyperkalemia... |
ORPHA:275761 |
| Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Hematuria, Dehydration, Nephrocalcinosis, Renal insufficiency, H... |
OMIM:259900 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL c... |
ORPHA:412 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Postnatal growth retardation, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, ... |
ORPHA:75249 |
| Scrub Typhus |
|
Reduced consciousness/confusion, Renal insufficiency, Lethargy |
ORPHA:83317 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Lethargy |
ORPHA:255 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, ... |
OMIM:212138 |
| Pearson Syndrome |
|
Hydrops fetalis, Hyperalaninemia, Small for gestational age, Glycosuria, Hypophosphatemia, Hypoka... |
ORPHA:699 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Lethargy, Ethylmalonic aciduria |
OMIM:201470 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Abnormal ... |
ORPHA:168558 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteomyelitis, Os... |
ORPHA:232 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia |
OMIM:233910 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Abnormal ... |
ORPHA:289548 |
| Insulinoma |
|
Fluctuations in consciousness, Coma, Reduced consciousness/confusion, Lethargy, Increased body we... |
ORPHA:97279 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Lethargy, Elevated circulating creatine kinase concentration |
OMIM:600649 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Self-injurious behavior, Gait disturbance, Anxiety, Hypertriglyceridemia |
ORPHA:819 |
| Shigellosis |
|
Hemolytic-uremic syndrome, Hyponatremia, Acute kidney injury, Abnormal blood ion concentration, U... |
ORPHA:810 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia, Facial edema |
ORPHA:95716 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Dehydration, Elevated circula... |
ORPHA:230 |
| Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... |
ORPHA:79404 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Abnormal renal corticomedullary differentiation, Ascites, Lethargy |
OMIM:617397 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponat... |
ORPHA:556037 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
| Megalocornea-Mental Retardation Syndrome |
|
Osteopenia, Ataxia, Hypercholesterolemia |
OMIM:249310 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... |
ORPHA:370 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Classic Galactosemia |
|
Delayed puberty, Ascites, Lethargy |
ORPHA:79239 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Methylmalonic aciduria, Lethargy |
OMIM:275350 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Hypercholesterolemia |
ORPHA:2479 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Cognitive impairment, Apathy, Progressive neurologic deterioration, Anxiety, Elevated circulating... |
ORPHA:247691 |
| Pyruvate Dehydrogenase Deficiency |
|
Growth delay, Lethargy, Intrauterine growth retardation |
ORPHA:765 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Short stature, Lethargy, Decreased serum zinc |
OMIM:201100 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:92050 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... |
OMIM:151660 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Weight loss, Elevated transferrin saturation, Increased circulat... |
ORPHA:465508 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Cognitive impairment, Abnormal ... |
ORPHA:79259 |
| Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia, Lethargy |
OMIM:616483 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Hypercholesterolemia, Hyponatremia, Dehydration, Nephrolithiasis, ... |
ORPHA:534 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Lethargy, Homocystin... |
ORPHA:395 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Elevated circulating creatinine concentration |
OMIM:614376 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Cognitive impairment, Elevated circulating creatinine concentratio... |
OMIM:235400 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly |
ORPHA:1655 |
| Susac Syndrome |
|
Confusion, Lethargy |
ORPHA:838 |
| Staphylococcal Necrotizing Pneumonia |
|
Pleural empyema, Pleural effusion, Elevated circulating C-reactive protein concentration, Confusi... |
ORPHA:36238 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
| Isolated Complex I Deficiency |
|
Proximal tubulopathy, Failure to thrive, Increased serum pyruvate, Lethargy, Intrauterine growth ... |
ORPHA:2609 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... |
OMIM:615558 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Osteomyelitis, Cellulitis, Arthritis, Fasciitis, Elevated circulating creatine ... |
ORPHA:36234 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Coma, Oroticaciduria, Failure to thrive, Hyperammonemia, Hyperornithinemia, Confusion, Lethargy, ... |
ORPHA:415 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:90674 |
| Ogden Syndrome |
|
Excessive daytime somnolence, Lethargy, Postnatal growth retardation |
ORPHA:276432 |
| Typhoid |
|
Coma, Lethargy |
ORPHA:99745 |
| Visceral Steatosis, Congenital |
|
Renal steatosis, Coma, Lethargy, Hypocalcemia, Neonatal death |
OMIM:228100 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Abnormal circulating thyroglobulin level, Lethargy, Overweight, Growth delay |
ORPHA:99832 |
