Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Anore... |
ORPHA:223 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Short stature, Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Polydipsia, Hypernatremia |
OMIM:304800 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le... |
OMIM:615751 |
Renal Hypoplasia |
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Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Nephronophthisis 1 |
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Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Senior-Loken Syndrome 4 |
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Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia |
OMIM:606996 |
Type 1 Diabetes Mellitus |
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Polyuria, Ketoacidosis, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia |
OMIM:222100 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
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Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Nephronophthisis-Like Nephropathy 2 |
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Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Non... |
OMIM:619003 |
Neuroleptic Malignant Syndrome |
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Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Deh... |
ORPHA:94093 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, T... |
OMIM:613845 |
Renal Hypoplasia, Bilateral |
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Hyponatremia, Proteinuria, Short stature, Edema, Chronic kidney disease, Hyperkalemia, Oliguria, ... |
ORPHA:97362 |
Glomerulopathy With Fibronectin Deposits 1 |
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Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... |
OMIM:137950 |
Central Diabetes Insipidus |
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Hyponatremia, Anorexia, Dehydration, Polydipsia, Nocturia |
ORPHA:178029 |
Glucose-Galactose Malabsorption |
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Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Hematuria, Hypernatremia |
ORPHA:35710 |
Transaldolase Deficiency |
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Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangie... |
ORPHA:101028 |
Renal Glucosuria |
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Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Apparent Mineralocorticoid Excess |
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Hypokalemic metabolic alkalosis, Renal insufficiency, Short stature, Abnormal urine sodium concen... |
ORPHA:320 |
Hyperaldosteronism, Familial, Type Iii |
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Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Polydipsia, Decreased ci... |
OMIM:613677 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Hepatosplenomegaly, Neph... |
OMIM:611590 |
Nephronophthisis 4 |
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Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypercalciuria, Dehydration, Nephrocalcinosis, Growth delay, Hypokalemia, Metabolic acidosis, Dis... |
OMIM:602722 |
Cystinosis |
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Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Dehydration, Renal tubular ... |
ORPHA:213 |
Hypercalcemia, Infantile, 1 |
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Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Medullar... |
OMIM:143880 |
Juvenile Nephropathic Cystinosis |
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Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
Hypercalcemia, Infantile, 2 |
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Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Metabolic acidosis, Hypotension |
OMIM:264350 |
Distal Renal Tubular Acidosis |
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Hypocitraturia, Renal cyst, Dehydration, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight pr... |
ORPHA:18 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Hypokalemic metabolic alkalosis, Salt craving, Short stature, Polyuria, Renal salt wasting, Eleva... |
OMIM:612780 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... |
OMIM:602522 |
Corticosterone Methyloxidase Type I Deficiency |
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Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... |
OMIM:203400 |
Combined Malonic And Methylmalonic Aciduria |
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Ketoacidosis, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... |
OMIM:607364 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... |
ORPHA:79159 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, Neuromu... |
ORPHA:449285 |
Colchicine Poisoning |
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Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Congestive heart failure... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Increased serum lactate, Hyperalaninemia, Premature skin wrinkling, Aciduria |
OMIM:617950 |
Tempi Syndrome |
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Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Dehydration, Growth dela... |
OMIM:610600 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... |
OMIM:613090 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemic alkalosis, Salt craving, Polyuria, Renal magnesium wasting, Ve... |
OMIM:263800 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Dehydration, I... |
ORPHA:556030 |
Pyruvate Carboxylase Deficiency |
|
Elevated lactate:pyruvate ratio, Anorexia, Dehydration, Lactic acidosis, Compulsive behaviors, Hy... |
ORPHA:3008 |
Combined Malonic And Methylmalonic Acidemia |
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Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic... |
ORPHA:289504 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Renal insufficiency, Hyperammonemia, Dehydration |
ORPHA:28 |
Hypomagnesemia 3, Renal |
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Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Senior-Loken Syndrome 1 |
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Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Hsd10 Disease, Neonatal Type |
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Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Abnormal concentration of acylc... |
ORPHA:391457 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Hypovolemia, Bicarbonaturia,... |
ORPHA:47159 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
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Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w... |
OMIM:604278 |
Hereditary Coproporphyria |
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Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79273 |
East Syndrome |
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Salt craving, Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokal... |
ORPHA:199343 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Isovaleric Acidemia |
|
Pancytopenia, Ketoacidosis, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Metabolic acidos... |
OMIM:243500 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Renal hypoplasia, Hepatosplenom... |
ORPHA:84081 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentra... |
ORPHA:173 |
Beta-Ketothiolase Deficiency |
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Ketonuria, Edema, Anorexia, Increased serum lactate, Ketoacidosis, Leukocytosis, Hyperammonemia, ... |
ORPHA:134 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Increased serum la... |
OMIM:617021 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac... |
OMIM:251120 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Cardi... |
ORPHA:79312 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Stage 5 chronic kidney dis... |
OMIM:251000 |
Erythrocytosis, Familial, 1 |
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Plethora, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increas... |
OMIM:133100 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Familial Renal Glucosuria |
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Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... |
OMIM:617671 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:300971 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Metabolic alkalosis, Hypercalciuria, Intracranial hemorrhage, H... |
ORPHA:251274 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydroneph... |
OMIM:615926 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis, Hemolytic anemia, Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... |
OMIM:615453 |
Primary Unilateral Adrenal Hyperplasia |
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Epistaxis, Increased urinary potassium, Metabolic alkalosis, Hypertension, Hypokalemia, Palpitati... |
ORPHA:231580 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Congestive heart failure, Metabolic acidosis, Neonatal death, Intrauterine growth... |
OMIM:301021 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Metabolic acidosis, Dehydration |
OMIM:602199 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... |
ORPHA:427 |
Propionic Acidemia |
|
Pancytopenia, Short stature, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebel... |
OMIM:606054 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Increased serum lactate, Metabolic acidosis |
OMIM:615158 |
Hyperparathyroidism, Neonatal Severe |
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Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuria, Aminoacidur... |
OMIM:239200 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:241200 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:601678 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Increased circ... |
ORPHA:556037 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Dehydration, Diabetic ketoacidosis, Abnormality of the urinary system,... |
ORPHA:99886 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Cardiomyop... |
ORPHA:27 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Gaisböck Syndrome |
|
Plethora, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia... |
ORPHA:90041 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:614053 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Short stature, Ketoacidosis, Jaundice, Chronic kidney disease,... |
ORPHA:1667 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Polyhydramnios |
ORPHA:1450 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchl... |
ORPHA:3337 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Metabolic alkalosis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalem... |
ORPHA:369929 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Hematochezia,... |
OMIM:618183 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Metabolic acidosis, Cardiomyopathy, Ethylmaloni... |
ORPHA:26792 |
3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis |
OMIM:236795 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level, H... |
OMIM:620125 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Increased serum lactate, Congestive heart failure, Decreased pla... |
OMIM:619048 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hem... |
OMIM:263400 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Lactic acidosis, Hypertrophic cardiomyopathy, Organic aciduria |
OMIM:617184 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ... |
OMIM:603358 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Jaundice, Dehydration, Nephrocalcinosis, Renal tubular acidosis, A... |
OMIM:208085 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... |
ORPHA:358 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Orthostatic hypotension, Salt craving, Hype... |
ORPHA:95409 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Redundant neck skin, Edema, Increased serum lactate, Hyperammonemia, Growth delay, Lactic acidosi... |
OMIM:611719 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Edema, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia |
OMIM:614652 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... |
OMIM:251100 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Raynaud phe... |
OMIM:259900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Familial Cold Urticaria |
|
Urticaria, Polydipsia, Erythema, Dehydration |
ORPHA:47045 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis laxa, Anemia,... |
ORPHA:79325 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Erythema, Hypercalciuria, Reticul... |
OMIM:557000 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... |
OMIM:251110 |
Microvillus Inclusion Disease |
|
Hypovolemia, Dehydration, Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology |
ORPHA:2290 |
Hawkinsinuria |
|
Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, ... |
ORPHA:2118 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Galactosemia I |
|
Hemolytic anemia, Increased level of galactitol in plasma, Metabolic acidosis, Albuminuria, Amino... |
OMIM:230400 |
Cog7-Cdg |
|
Abnormality of the kidney, Elevated circulating creatine kinase concentration, Postnatal growth r... |
ORPHA:79333 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypokalemic metabolic alkalosis, Polyhydramnios, Renal salt wasting, Increased urin... |
ORPHA:89938 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... |
OMIM:222748 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... |
OMIM:615605 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Cardiac arrest, Edema, Anorexia, Increased serum lactate, Leukocytosis, Dilated cardio... |
ORPHA:20 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level, H... |
OMIM:177735 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci... |
ORPHA:79155 |
Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Increased serum lactate, Dehydration, Metabolic acidosis, Dysphagia, Intrauterine growth retardation |
OMIM:618958 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis, Dehydration |
OMIM:223000 |
Diarrhea 4, Malabsorptive, Congenital |
|
Hyperchloremic metabolic acidosis, Dehydration |
OMIM:610370 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Jaundice, Neutropenia... |
ORPHA:525731 |
Alpha-Methylacetoacetic Aciduria |
|
Episodic ketoacidosis, Dehydration |
OMIM:203750 |
Ethylene Glycol Poisoning |
|
Lactic acidosis, Elevated serum anion gap, Hypocalcemia, Renal tubular dysfunction, Addictive alc... |
ORPHA:31826 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Hydrops fetalis, Renal cyst, Dehydration, Lactic acidosis, Hypoc... |
ORPHA:699 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomy... |
OMIM:618120 |
Lipoyltransferase 1 Deficiency |
|
Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a... |
OMIM:616299 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Growth delay, Lactic acidosis, Hypocalcemia |
ORPHA:163693 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... |
OMIM:620300 |
Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... |
ORPHA:100924 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis |
OMIM:615994 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Unilateral renal agenesis, Postnatal growth retardation, Cutis laxa, Intrau... |
OMIM:616603 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol... |
OMIM:615026 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Lack of skin elasticity, Dehydration, Dry skin |
ORPHA:313 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Increased serum lactate, Proximal renal tubular acidosis, Lac... |
OMIM:615824 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemia, Metabolic a... |
OMIM:246450 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... |
OMIM:145600 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Myocarditis, Splenomegaly... |
ORPHA:549 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Hypertension, Ren... |
OMIM:243910 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Increased serum lactate, Methylmalonic aciduria, Lactic acidosis, Intrauterine... |
OMIM:615578 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Increased serum lactate, Metabolic acidosis, Low-output congestive heart failure, Lacti... |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul... |
OMIM:614582 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Metabolic acidosis, Dys... |
OMIM:618247 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:247990 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Dehydration |
OMIM:560000 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Exercise-induced lactic acidemia, Increased serum lactate, ... |
OMIM:212350 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Netherton Syndrome |
|
Short stature, Ectopic kidney, Dehydration, Urticaria, Aminoaciduria, Dry skin, Hydronephrosis |
ORPHA:634 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... |
OMIM:272300 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Mitral regurgitation, Cutis laxa |
OMIM:614434 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Portal hypertension, Oliguria, Hepatosplenomegaly, Reduced renal corticomedullary d... |
ORPHA:731 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Increased serum lactate, Polyphagia, Nephrolithiasis, Cystinuria, L... |
OMIM:606407 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Pallor, Polydipsia |
ORPHA:95513 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Edema, Acidosis, Increased serum lactate, Leukocytosis, Metabolic acidosis, ... |
ORPHA:391673 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l... |
OMIM:614096 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmalon... |
OMIM:248360 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Progeroid facial appearance, Lymphocytosis, Microscopic hematuria |
ORPHA:79087 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Congestive heart failu... |
OMIM:212140 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Polyhydramnios, Lactic acidosis, Metabolic acidosis, Hyperglycin... |
OMIM:615330 |
3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia |
ORPHA:67048 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level |
OMIM:620126 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Increased serum lactate, Oligohydramnios, Hyperammonemia, Lactic acidosis, ... |
OMIM:614702 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, J... |
ORPHA:93111 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Proportionate short stature, Hyperkalemia, Dehydration, Metabolic acidosis, Hypovol... |
ORPHA:171876 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Severe lactic acidosis |
ORPHA:254857 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate |
OMIM:614741 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Myocard... |
ORPHA:3452 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangi... |
OMIM:620141 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Short stature, Long penis, Nephrocalcinosis, Severe postnata... |
ORPHA:769 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ne... |
OMIM:266130 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Metabolic acidosis, Neonatal death, Intrauterine growth retardation, Hyp... |
OMIM:618237 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Dehy... |
OMIM:214700 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... |
ORPHA:90064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Hypertrophic cardiomyop... |
OMIM:619053 |
Shigellosis |
|
Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethritis, Abnorma... |
ORPHA:810 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Lactic acidosis, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemi... |
OMIM:620135 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphosphatemia |
ORPHA:94086 |
Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
3-Methylglutaconic Aciduria, Type I |
|
Metabolic acidosis, Self-mutilation, 3-Methylglutaconic aciduria, Urinary incontinence |
OMIM:250950 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Dehydration, Leukopenia, Anemia |
ORPHA:33355 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoac... |
OMIM:617913 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Hyperh... |
ORPHA:79282 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acido... |
ORPHA:391428 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Delayed puberty, Dehydration, Renal salt wasting |
OMIM:300200 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Ac... |
ORPHA:275761 |
Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Petechiae, Elevated circulating C-reactive protein concentration, Edema, T... |
ORPHA:90051 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia |
ORPHA:403 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Anemia |
OMIM:610090 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephrocalcinosis, Renal tubular acidosis, A... |
OMIM:613404 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Increased serum lactate, Congestive heart failure, Dehydration, Growt... |
OMIM:616271 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Postnatal growth retardation, Increased serum lactate, Lactic ac... |
OMIM:616111 |
Acrogeria |
|
Telangiectasia of the skin, Short stature, Prematurely aged appearance, Skin ulcer, Excessive wri... |
ORPHA:2500 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Short stature, Hyperlipidemia, Postprandial hyperlactemia... |
ORPHA:369 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Polydipsia |
ORPHA:30925 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Growth delay, Hypoalbuminemia, Pulmonic stenosis, Hypernatremia |
OMIM:615508 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Acidosis, Aminoaciduria, Severe short stature |
OMIM:204730 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Hypophosphatemia, Nephrocalcinosis, ... |
OMIM:616026 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Hyperkalemia |
OMIM:143860 |
Erdheim-Chester Disease |
|
Renal insufficiency, Polydipsia, Dysuria, Congestive heart failure, Joint swelling, Pleural effus... |
ORPHA:35687 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Edema |
ORPHA:498359 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Restlessness, Dysuria, Urinary incont... |
ORPHA:79276 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Cog5-Cdg |
|
Neurogenic bladder, Short stature, Urinary incontinence, Hepatosplenomegaly, Premature skin wrink... |
ORPHA:263487 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolit... |
ORPHA:99880 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Chron... |
ORPHA:324525 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Large vessel ... |
ORPHA:49041 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, ... |
ORPHA:85138 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Increased serum lactate, Growth delay, Lactic acidosis, Pallor, Dysphagia, ... |
OMIM:613561 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis |
OMIM:612075 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Dysphagia, Lactic acidosis, Metabolic acido... |
OMIM:618253 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud p... |
ORPHA:416 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Increased serum lactate, Splenomegaly, Hyperprolinem... |
OMIM:619046 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy... |
OMIM:616198 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Elevate... |
ORPHA:2394 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolit... |
ORPHA:143 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Congestive heart failure, Lactic acidosis, Intrauterine growth reta... |
OMIM:615440 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma... |
ORPHA:3463 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Pulmonary edema, Myocarditis, Leukocytosis, Oliguria, Pedal ed... |
ORPHA:188 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Short sta... |
ORPHA:363705 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Edema, Myocarditis, Leukocytosis, Thrombocytopenia, Hyper... |
ORPHA:544482 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Dehydration, Lactic acidosis, Leuko... |
ORPHA:99826 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Congest... |
ORPHA:247353 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Hydrops fetalis, Micropenis, Lactic acidosis, Bradycardia, H... |
OMIM:618815 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Lactic acido... |
OMIM:300438 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Facial edema, Periorbital edema, Leukopeni... |
ORPHA:319213 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... |
OMIM:266150 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Isolated Glycerol Kinase Deficiency |
|
Metabolic acidosis, Short stature, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Lacticaciduria, Hyper... |
OMIM:605711 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Renal cyst, Lacti... |
OMIM:614922 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Hawkinsinuria |
|
Hypertyrosinemia, Restlessness, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, ... |
OMIM:140350 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Polyhydramnios, Dehydration |
OMIM:616069 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Petechiae, Thromboc... |
OMIM:617053 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:85285 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... |
ORPHA:53693 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Polyhydramnios, Increased serum lactate, Congestive heart failure, Seve... |
OMIM:616794 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi... |
OMIM:618234 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Growth delay, Lactic aci... |
OMIM:245400 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Cardiac arrest, Polyhydramnios, Acanthocytosis, Growth delay, Poikilocytosis, ... |
OMIM:618947 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Image Syndrome |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hyperlipidemia, Hematuri... |
OMIM:232240 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Pos... |
OMIM:227810 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Enteric Anendocrinosis |
|
Hyperchloremic metabolic acidosis, Portal hypertension, Dehydration |
ORPHA:83620 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Intrauterine growth retardation, Lactic acidosis |
OMIM:618776 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Pleural ... |
ORPHA:542323 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia |
OMIM:616949 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypovolem... |
ORPHA:168558 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Hypertrophic cardiomyopathy, La... |
OMIM:618243 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r... |
ORPHA:90791 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe... |
OMIM:276700 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... |
OMIM:618250 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp... |
ORPHA:361 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Hypoplasia of penis, Dry skin, Short stature |
ORPHA:3157 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypovolem... |
ORPHA:289548 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Hyp... |
OMIM:616034 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiom... |
OMIM:246900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Hypertriglyceridemia, Decreased adi... |
OMIM:606721 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Pulmonary ede... |
ORPHA:244242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis |
OMIM:179830 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Growth delay, Cardio... |
OMIM:222300 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Increased serum lactate, Metabo... |
OMIM:609060 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Redundant neck skin, Edema, Increased serum lactate, Lactic acidosis, Neonatal death |
OMIM:610498 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Postnatal growth retardation, Chronic lactic acidosis, Ab... |
ORPHA:391417 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Methylma... |
OMIM:614105 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Dehydration, Aplasia/Hyp... |
ORPHA:79404 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Cardiac arrest, Oral-pharyngeal dy... |
OMIM:616878 |
Acute Interstitial Pneumonia |
|
Cyanosis, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated c... |
ORPHA:79126 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co... |
ORPHA:99901 |
Glycogen Storage Disease Ia |
|
Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growth delay, Focal segmental glomer... |
OMIM:232200 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Elevated circulating creatine kinase concentration, Increased serum lactate, Lact... |
OMIM:617713 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Prema... |
ORPHA:423 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta... |
OMIM:312170 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I... |
OMIM:267700 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate |
OMIM:614458 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behav... |
ORPHA:534 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis, Dysphagia |
OMIM:618578 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ... |
ORPHA:31825 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... |
OMIM:253270 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Ethylmalonic aciduria, Acro... |
OMIM:602473 |
6P22 Microdeletion Syndrome |
|
Redundant skin, Hydronephrosis |
ORPHA:251046 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arte... |
OMIM:619051 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Hypertension, Abnorm... |
OMIM:616733 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Xerostomia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Papillary renal cell carcinoma, Intracranial hemo... |
ORPHA:363618 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi... |
OMIM:618228 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Premature skin wrinkling, Attention deficit hyperactivity disorder |
ORPHA:1942 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Periorbital edema, Leukocytosis, Oliguria, Lymphocytosis, Hyp... |
ORPHA:514 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat... |
OMIM:615895 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal inter... |
ORPHA:93126 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ... |
ORPHA:220393 |
Isolated Atp Synthase Deficiency |
|
Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methy... |
ORPHA:254913 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Dysphagia... |
ORPHA:70472 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Pallor |
ORPHA:95512 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Short stature, Lactic acidosis, Renal tubular acidosis, Cardiomyopathy, Ren... |
OMIM:530000 |
Glycogen Storage Disease Ib |
|
Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithiasis, Lactic ac... |
OMIM:232220 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol... |
ORPHA:941 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Edema,... |
ORPHA:466677 |
3-Methylglutaconic Aciduria Type 9 |
|
Increased serum lactate, 3-Methylglutaconic aciduria, Urinary incontinence, Aggressive behavior |
ORPHA:505216 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metabolic... |
ORPHA:348 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Increased circulating... |
OMIM:603553 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani... |
OMIM:614739 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Elevated c... |
OMIM:615160 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, Acidosis |
OMIM:618235 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia |
OMIM:608688 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Proteinuria, Prematurely aged appearance, Dry skin, Hy... |
OMIM:610965 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Increased serum lactate... |
OMIM:255125 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilatera... |
ORPHA:90348 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema |
OMIM:201450 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ... |
ORPHA:436271 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi... |
OMIM:620358 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos... |
OMIM:220110 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level... |
OMIM:606812 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Metabolic acidosis, Dehydration |
OMIM:214150 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Cerebral edema, Lactic a... |
OMIM:611126 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Increased serum lactate, Growth delay, Lactic acidosis, Metabolic acidosis, Dysphagia |
OMIM:618226 |
Short Syndrome |
|
Prominent superficial veins, Birth length less than 3rd percentile, Thin skin, Intrauterine growt... |
OMIM:269880 |
Ethylmalonic Encephalopathy |
|
Lactic acidosis, Acrocyanosis, Ethylmalonic aciduria, Petechiae |
ORPHA:51188 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... |
OMIM:610198 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Cutis marmorata, ... |
ORPHA:727 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Increased serum lactate, Oligohydramnios, Hyperammonemia, Growth delay, Hypertension... |
OMIM:614052 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cyanosis, Elevated circulating acylcarnitine concentration, Ventricular ta... |
ORPHA:159 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Dehydration, Renal tubular dysfun... |
ORPHA:99885 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Dilated cardiomyopathy, Hydronephrosis, Edema |
OMIM:607598 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypercalcemia, Eosin... |
ORPHA:199299 |
D-Glyceric Aciduria |
|
Tongue thrusting, Nonketotic hyperglycinemia, Growth delay, Metabolic acidosis, Aminoaciduria, Br... |
OMIM:220120 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased serum lactate, Increased ... |
OMIM:600462 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Impulsivity, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level,... |
ORPHA:35706 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Microc... |
OMIM:612073 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Hyperc... |
OMIM:614492 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Redundant neck skin, Hypospadias, Elevated circulating creatine kin... |
OMIM:301056 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Jaundice, Lactica... |
OMIM:613070 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Nonimmune hydrops fetalis, Short stature, Hydronephrosis |
OMIM:618265 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Intraventricular hem... |
OMIM:619055 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Williams-Beuren Region Duplication Syndrome |
|
Cutis marmorata, Short stature, Unilateral renal agenesis, Attention deficit hyperactivity disord... |
OMIM:609757 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundi... |
OMIM:617093 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Hypo... |
ORPHA:33475 |
Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Polyhydramnios, Pulmonic stenosis, Webbed neck, Hypertrophic... |
OMIM:610733 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonaturia... |
OMIM:229600 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pleural effusion, Webb... |
OMIM:616897 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Lactic acidosis, Bradycardia, Abnormal renal corticomedullary dif... |
OMIM:617397 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Growth delay, Metabolic a... |
ORPHA:469 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Lymphedema, Ventricular tachycardia, Iron deficiency anemia,... |
OMIM:300855 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar... |
ORPHA:191 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis |
OMIM:245349 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Inc... |
ORPHA:247598 |
Hartsfield Syndrome |
|
Growth delay, Micropenis, Hypernatremia, Hypospadias |
OMIM:615465 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate |
OMIM:251950 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis,... |
ORPHA:488627 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Flushing, Dermatographic urticar... |
ORPHA:79455 |
Recombinant Chromosome 8 Syndrome |
|
Growth delay, Postnatal growth retardation, Hydronephrosis, Pulmonic stenosis |
OMIM:179613 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... |
OMIM:210210 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Palpitations, Bradycar... |
ORPHA:91355 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased serum lactate, Growth delay, Anemia, Aminoaciduria, Lactic acidosis, Elevated hepatic i... |
OMIM:614946 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Cyanosis, Short stature, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Enuresi... |
ORPHA:293987 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Lactic acidosis, Mitr... |
OMIM:619167 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath... |
OMIM:231680 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, C... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, N... |
OMIM:618835 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Increased serum... |
OMIM:251900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Metabolic acidosis, Lactic acidosis, Reduced left ... |
OMIM:616501 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Hyperkalemia |
OMIM:240200 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Lactic acidosis, Anemia, Delayed puberty |
ORPHA:2598 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Hypovolemia, De... |
ORPHA:90794 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Severe p... |
ORPHA:2237 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Dermal translucency, Hepatosplenomegaly, Growth delay, Decreased se... |
ORPHA:541423 |
Geroderma Osteodysplasticum |
|
Severe short stature, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cuti... |
OMIM:231070 |
Analbuminemia |
|
Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H... |
OMIM:616000 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lactic acidosis, Dysphagia |
OMIM:608782 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Poor wound healing, Nephrolithiasis, Alkalosis, Facial erythema, Hypertension, Hypokalemia... |
OMIM:219090 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis |
OMIM:614496 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
Prune Belly Syndrome |
|
Hydroureter, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oligohydramnios |
OMIM:100100 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert... |
OMIM:618378 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp... |
ORPHA:466650 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Lactic acidosis, Increased serum lactate, Horseshoe kidney, Dysphagia |
OMIM:617664 |
Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Dehydration |
OMIM:615237 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Dermatological manifest... |
ORPHA:100078 |
Fg Syndrome Type 1 |
|
Hypospadias, Short stature, Facial wrinkling, Compulsive behaviors, Attention deficit hyperactivi... |
ORPHA:93932 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Chronic metabolic acidosis |
ORPHA:32 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Abnormal medullary pyramid morphology, Lactic ... |
ORPHA:79243 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Cyanosis, Low plasma citrulline, Renal steatosis, Lactic acidosis |
OMIM:261680 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Excessi... |
ORPHA:1860 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Delayed puberty, Hypercho... |
ORPHA:633 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leuk... |
ORPHA:520 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Lactic acidosis, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Growth delay, Compulsive behaviors, Attention deficit hyperactivity disorder, ... |
ORPHA:1727 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Dry skin, Nephrocalcinosis, Hyperphosphatemia, Hypocalc... |
ORPHA:428 |
Obesity Due To Sim1 Deficiency |
|
Short stature, Attention deficit hyperactivity disorder, Hypotension, Postural hypotension with c... |
ORPHA:369873 |
Harlequin Ichthyosis |
|
Self-injurious behavior, Sudden cardiac death, Dehydration |
ORPHA:457 |
Lassa Fever |
|
Shock, Facial edema, Jaundice, Oliguria, Dysphagia |
ORPHA:99824 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Metabolic acidosis, Tachycardia, Increased urinary glycerol |
OMIM:229700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hypergl... |
OMIM:619059 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol... |
OMIM:210200 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:616974 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia... |
ORPHA:167 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, P... |
ORPHA:71212 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Thrombocytopenia... |
ORPHA:2785 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Increased serum lactate, Lactic acidosis, Bradycardia, Hyperalaninemia, Intrauterine growth retar... |
OMIM:614654 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Polyhydramnios, Abnormality ... |
ORPHA:158684 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Metabolic acidosis, Bradycardia, Hyp... |
OMIM:617222 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Congestive... |
OMIM:608779 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Growth delay, Polyphagia |
ORPHA:95427 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Lactic acidosis, Hypertension, Agitation, Hypotension, Acute kidney in... |
ORPHA:43116 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Increased serum lactate, Jaundice, Hyperkalemia, Metabolic acidosi... |
OMIM:618528 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension, Pulmonary edema |
ORPHA:70578 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re... |
ORPHA:1834 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Lactic acidosis, Metabolic acidosis, Lacticaciduria |
OMIM:615595 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate |
OMIM:617228 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618236 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylg... |
OMIM:604273 |
Leigh Syndrome |
|
Dysphagia, Increased serum lactate, Congestive heart failure, Ketoacidosis, Lacticaciduria, Methy... |
ORPHA:506 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Lactic acidosis, Intrauterine growth retardation |
OMIM:618246 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Short stature, Prematurely aged appearance, Premature graying of hair... |
ORPHA:100 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Abnormal renal m... |
ORPHA:1655 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Intrauterine growth... |
OMIM:610678 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Edema, Intrauterine growth retardation, Hypoprot... |
ORPHA:2315 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Poor wound healing, Abnormal erythrocyte enzyme lev... |
ORPHA:101330 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Increased nuchal translucency, Renal hypoplasia, Dysphagia, Hydronephr... |
OMIM:618494 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenomegaly, Jaundice... |
OMIM:251880 |
Stuve-Wiedemann Syndrome 1 |
|
Short stature, Thin skin, Dysphagia, Pulmonary arterial hypertension, Premature skin wrinkling, O... |
OMIM:601559 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart fail... |
OMIM:261740 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri... |
OMIM:212138 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Darier's sign, Urticaria, Dermatographic ... |
ORPHA:79456 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con... |
OMIM:620366 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Increased serum lactate, Elevated circulating creatinine concentration, Lactic acid... |
OMIM:617872 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Dysphagia, Growth delay, Renal tubular acid... |
OMIM:615471 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentrat... |
ORPHA:99829 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Cerebral edema |
ORPHA:83601 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Hemolytic-uremic syndrome, Postnatal... |
OMIM:611209 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine... |
OMIM:500009 |
Liddle Syndrome 1 |
|
Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating reni... |
OMIM:177200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Pericardial eff... |
OMIM:618775 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Short stature, Hypospadias, Myocardial infarction, Abnormal localization of ... |
ORPHA:500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Metabolic acidosis, Hyperammonemia |
OMIM:620137 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration, ... |
ORPHA:263455 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Tetraploidy |
|
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis, Dysphagia |
OMIM:618230 |
Focal Facial Dermal Dysplasia Type Iii |
|
Prematurely aged appearance, Redundant skin, Abnormality of the upper urinary tract |
ORPHA:1807 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, I... |
OMIM:618838 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus |
OMIM:618252 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Glutaric Acidemia I |
|
Metabolic acidosis, Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration |
OMIM:231670 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Abnormal... |
ORPHA:264580 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Eleva... |
OMIM:619991 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Redundant skin, Edema, Polyhydramnios, Hypoalbuminemia, B lymphocytope... |
ORPHA:79324 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsi... |
ORPHA:2131 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Lactic acidosis, Hypoalbumi... |
OMIM:618805 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Lactic acidosis, Decreased circulating ferritin concentration |
ORPHA:330054 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:26793 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Elevated lactate:pyruvate ratio, Increased serum lactate, Bulimia, Livedo r... |
OMIM:614651 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Increased serum lactate, Hypochromic microcytic an... |
OMIM:619147 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Cutis marmorata, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata... |
ORPHA:79240 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent... |
ORPHA:255182 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Pulmonic stenosis, Intrauterine growth retardation, Aortic valve stenosis, Hydroneph... |
OMIM:220210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Lactic acidosis, Short stature |
OMIM:619065 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Polyhydramnios, Lymphedema, Splenomegaly, Hypocalcemia, Micropenis, Ascites,... |
OMIM:235255 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Increased serum lactate, Repetitive compulsive behavi... |
ORPHA:66634 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Intrauterine growth retardation, Short stature, Progeroid facial appearance |
ORPHA:50811 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:615917 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Aggressive behavior, Self-m... |
ORPHA:261494 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Severe short stature |
ORPHA:3051 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
Trisomy 13 |
|
Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Displacement of the urethral me... |
ORPHA:3378 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Severe short stature, Prematurely aged appearance, Dry skin |
ORPHA:2617 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis |
OMIM:619012 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Ectopic kidney, Lymp... |
OMIM:235510 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... |
ORPHA:261290 |
Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618229 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Splenomegaly, Growth delay, Lactic acidosis, Hyperuricemia, Hypercholestero... |
OMIM:306000 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Polyhydramnios, Urinary bladder inflammation, Hydronephrosis, Hematuria, Apla... |
ORPHA:79403 |
3-Hydroxyisobutyric Aciduria |
|
Lactic acidosis, Intrauterine growth retardation |
ORPHA:939 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Multiple ... |
ORPHA:1318 |
Autosomal Agammaglobulinemia |
|
Dehydration, Neutropenia |
ORPHA:33110 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:617668 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Increased serum lactate, Growth delay, Lactic acidosis, Bradycardia, Pulmonary arter... |
OMIM:619272 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Short stature, Increased serum lactate, Stress/infection-induced... |
OMIM:252011 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Lactic acidosis, Tubulointerstitial fibrosis, Short stature, Delayed puberty, A... |
ORPHA:79259 |
Vipoma |
|
Hypercalcemia, Anorexia, Erythema, Dehydration, Intermittent jaundice, Hematochezia, Hypokalemia,... |
ORPHA:97282 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio... |
ORPHA:480864 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Aggressive behavior, Increased serum lactate, Lactic acidosis, Cardiomyop... |
OMIM:617710 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Growth delay, Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub... |
ORPHA:431361 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
Joubert Syndrome 37 |
|
Micropenis, Short stature, Hydronephrosis |
OMIM:619185 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Redundant skin, Lymphedema, Excessive wrinkled skin, Pulmonic stenosis, Webbed nec... |
ORPHA:1340 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Dermal translucency, Prominent superficial veins, Tricuspid ... |
OMIM:612289 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Short stature, Anemia, Premature graying of hair, Excessive wrinkl... |
ORPHA:3322 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Kury-Isidor Syndrome |
|
Growth delay, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:619762 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Short stature, Vesicoureteral reflux, Dry sk... |
ORPHA:96169 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:139485 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Short stature, Redundant skin, Subretinal pigment epithelium hemorrhage, Pos... |
ORPHA:357074 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Short stature, Myocardial infarction, Prematurely age... |
ORPHA:902 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Aggressive behavior, Self-mutilation, Micropenis, Hydronephrosis |
ORPHA:364028 |
Melas |
|
Wolff-Parkinson-White syndrome, Proteinuria, Short stature, Cardiac conduction abnormality, Incre... |
ORPHA:550 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Intrauterine growth retardation, Decreased... |
OMIM:619573 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Short stature, Renal hypoplasia, Renal cyst, Dysph... |
OMIM:618460 |
Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Prominent superficial veins, Intermittent thrombocytopenia, E... |
OMIM:612541 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
Nicolaides-Baraitser Syndrome |
|
Short stature, Aggressive behavior, Growth delay, Excessive wrinkled skin, Periorbital wrinkles, ... |
OMIM:601358 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis, Webbed neck |
OMIM:618950 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Hydronephrosis |
ORPHA:531151 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Arterial rupture, Blad... |
OMIM:225400 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Premature graying of hair, Intrauter... |
ORPHA:1297 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Toluene Embryopathy |
|
Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Self-injurious behavior, Webbe... |
ORPHA:568 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Lactic acidosis, Intrauterine growth retardation |
OMIM:618238 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Short stature, Supraventricular arrhythmia, Microcytic anemia, Lack of facial subcut... |
ORPHA:2959 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Postnatal growth retardation, Intrauterine growth retardation, Excessive wrinkled skin, Progeroid... |
ORPHA:357058 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent urinary tract infections, H... |
ORPHA:3455 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Increased serum lactate, Growth... |
OMIM:613027 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Asplenia, Hydrops fetalis, Horseshoe kidney... |
ORPHA:99776 |
Scrub Typhus |
|
Splenomegaly, Myocarditis, Renal insufficiency, Hypotension |
ORPHA:83317 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly... |
OMIM:616539 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Head-banging, Hematochezia, Renal tubular acidosis, Metabolic acidosis, Self-injur... |
OMIM:619575 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Polyhydramnios, E... |
ORPHA:887 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Con... |
ORPHA:261344 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Postnatal growth retardation, Attention deficit hyperactivity disorder, Intrauteri... |
OMIM:612513 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Renal hypoplasia, Horseshoe kidney, Multi... |
OMIM:601186 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Growth delay, Cardiom... |
ORPHA:445038 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Edema, Polyhydramnios, Postnatal growth retardation, Elevated 8-dehydrocholesterol, E... |
OMIM:302960 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Amish Lethal Microcephaly |
|
Metabolic acidosis, Organic aciduria |
ORPHA:99742 |
Zttk Syndrome |
|
Aortic regurgitation, Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growt... |
OMIM:617140 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hydronephrosis, Oligohydramnios |
OMIM:619431 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Erythema, Respiratory acidosis, Nephrotic syndrome, Focal segme... |
OMIM:614748 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Short stature, Increased serum lactate, Increased circulating ferritin concentrati... |
OMIM:222700 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Lymphedema, Pulmonic sten... |
OMIM:616737 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Postnatal growth retardation, Abnormal repetitive mannerisms, Reduce... |
OMIM:301040 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Postnatal growth retardation, Pulmonic stenosis,... |
ORPHA:7 |
Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Neonatal death, Intrauterine growth retardation, Hydroneph... |
OMIM:311900 |
Pyridoxine-Dependent Epilepsy |
|
Lactic acidosis, Restlessness |
ORPHA:3006 |
Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Syncope, Palpitations, Arrhythmia, Acidosis, Methemoglobinemia |
ORPHA:464453 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Progeroid facial appearance, Postnatal growth retardation, Hype... |
ORPHA:90321 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Restlessness, Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Self... |
OMIM:614388 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Polyhydramnios, Growth delay, Mitral regurgit... |
ORPHA:261349 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Hypospadias, Sh... |
OMIM:264090 |
Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Attention deficit hyperactivity disorder, Hypospadias, Short stature |
OMIM:305450 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, In... |
OMIM:612940 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Short stature, Elevated circulating creatine kinase concentration, Sudden cardiac de... |
OMIM:614921 |
Scleromyxedema |
|
Transient ischemic attack, Abnormality of the kidney, Elevated circulating creatine kinase concen... |
ORPHA:167635 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,... |
ORPHA:288 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Intrauterine growth retardatio... |
ORPHA:254528 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... |
ORPHA:137675 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Scaling skin, Short stature, Hydronephrosis |
ORPHA:35173 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Lacti... |
OMIM:124000 |
Recon Progeroid Syndrome |
|
Short stature, Progeroid facial appearance, Livedo reticularis, Dry skin, Growth delay, Anemia, T... |
OMIM:620370 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukope... |
ORPHA:36238 |
Keppen-Lubinsky Syndrome |
|
Postnatal growth retardation, Progeroid facial appearance, Premature skin wrinkling, Polyhydramnios |
ORPHA:435628 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Short stature, Progeroid facial appearance, Cutis laxa, Growth delay, Thin skin, Pulmonic stenosi... |
ORPHA:75496 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan... |
OMIM:618329 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Short stature, Cutis marmorata, Progeroid facial appearance, Intrauterine growth retardation, Mic... |
OMIM:300953 |
Microsporidiosis |
|
Anorexia, Myocarditis, Abnormality of the spleen, Urethritis, Dehydration, Abnormality of the uri... |
ORPHA:2552 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyp... |
ORPHA:293978 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Short stature, Hypertriglyceridemia, Hyperglycerolemia, Ketoacidosis,... |
OMIM:307030 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... |
OMIM:201810 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618241 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Thin skin, Intrauterine growth ... |
OMIM:614438 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Heart murmur, Cutaneous photosensitivity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnor... |
OMIM:618653 |
Visceral Myopathy 1 |
|
Polyhydramnios, Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Polyhydramnios, Renal cyst, Birth l... |
ORPHA:464311 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Short stature, Impulsivity, Pulmonic stenosis,... |
OMIM:610443 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Short stature, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinkin... |
ORPHA:209905 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Prematurely aged appearance |
ORPHA:1387 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Hydronephrosis, Stereotypical hand wringing |
OMIM:619179 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Tricuspid stenosi... |
ORPHA:391641 |
Mesomelia-Synostoses Syndrome |
|
Short stature, Hydronephrosis |
ORPHA:2496 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... |
OMIM:615838 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Increased serum lactate, Growth delay, Lactic acidosis, Hypertrophic cardiomyopathy, Cerebral edema |
OMIM:614462 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Glandular hypospadias, Growth delay, Hydronephrosis, Hypertensive crisis |
ORPHA:1358 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Cyanosis, Hypospadias, Splenomeg... |
OMIM:252010 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Short stature, Redundant skin, Prematurely aged appearance, ... |
ORPHA:2963 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect... |
ORPHA:740 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis |
ORPHA:488613 |
Infantile Liver Failure Syndrome 1 |
|
Lactic acidosis, Macrocytic anemia, Anemia |
OMIM:615438 |
De Barsy Syndrome |
|
Short stature, Progeroid facial appearance, Postnatal growth retardation, Prominent veins on trun... |
ORPHA:2962 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin... |
ORPHA:2510 |
Beta-Ureidopropionase Deficiency |
|
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst... |
OMIM:613161 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis, Short stature |
OMIM:619648 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retardation, Unilater... |
ORPHA:90324 |
Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis |
OMIM:619445 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... |
ORPHA:847 |
Dubowitz Syndrome |
|
Hypospadias, Short stature, Abnormality of neutrophils, Cutis marmorata, Postnatal growth retarda... |
ORPHA:235 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
ORPHA:88639 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Progeroid facial appearance, Abnormal cardiovascular system ph... |
ORPHA:79086 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat... |
OMIM:604377 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Short stature, Jaundice, Hydronephrosis |
ORPHA:912 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Hypospadias, Dysphagia, Albuminuria, Aminoaciduria, Prolonged neonatal jaund... |
OMIM:214100 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Congestive heart failure |
ORPHA:137608 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Short stature, Dysuria, Growth delay, Dysphagia, Hydronephrosis |
ORPHA:101000 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Jaundice, Re... |
ORPHA:509 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Gapo Syndrome |
|
Prematurely aged appearance, Short stature, Palpebral edema, Nephrolithiasis, Growth delay |
ORPHA:2067 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Gro... |
OMIM:613177 |
Ablepharon-Macrostomia Syndrome |
|
Redundant skin, Micropenis, Thin skin, Premature skin wrinkling, Dry skin |
OMIM:200110 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Hematemesis, Shortened QT interval, Hypercalciuria, Nephrolithiasis, Deh... |
ORPHA:652 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Lar... |
ORPHA:100050 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... |
OMIM:614527 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Neonatal death, Tricuspid ... |
OMIM:619534 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, H... |
OMIM:608612 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Cerebral edema, Pulmonary edema |
ORPHA:79139 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Severe short stature, Proteinuria, Prem... |
OMIM:133540 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Growth delay, Oligohydramnios, Hydronephrosis, Telangiectasia |
ORPHA:247262 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Redundant skin, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Bruisin... |
ORPHA:2953 |
Baller-Gerold Syndrome |
|
Short stature, Abnormality of the ureter, Abnormal localization of kidney, Growth delay, Vesicour... |
ORPHA:1225 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Intrauterine growth retardation, Redundant skin, Cutis laxa |
OMIM:219200 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Short stature, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia... |
ORPHA:163979 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Hypertension, Hyperkalemia |
OMIM:145260 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Short stature, Hypospadias, Unilateral renal agenesis, Cutis marmor... |
ORPHA:96121 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Proximal tubulopathy, Intrauterine growth retardation,... |
ORPHA:2609 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Short stature, Prematurely... |
OMIM:216400 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Lactic acidosis, Hyperalaninemia, Anemia, Dysphagia |
ORPHA:298 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension |
OMIM:614495 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Abnormality of the spleen, Abnormality of the uri... |
ORPHA:2162 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypospadias, Aggressive behavior, Increased serum lactate, Methylmalonic ... |
ORPHA:17 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Palpebral edema, Abnormality of the upper urinary tract, ... |
ORPHA:2995 |
Intellectual Disability, Buenos-Aires Type |
|
Short stature, Hydronephrosis |
ORPHA:3079 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Growth delay, Short stature, Hydronephrosis |
ORPHA:457193 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Episodic metabolic acidosis, Ethylmalonic aciduria |
OMIM:201470 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Aortic regurgitation, Hyperactivity, Hypospadias, Short stature, Unilateral renal agenesis, Renal... |
ORPHA:464306 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620155 |
Cardiofaciocutaneous Syndrome 1 |
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Short stature, Polyhydramnios, Splenomegaly, Tongue thrusting, Pulmonic stenosis, Webbed neck, Hy... |
OMIM:115150 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia |
ORPHA:91351 |
Carpenter Syndrome 1 |
|
Hydroureter, Short stature, Polysplenia, Pulmonic stenosis, Hydronephrosis |
OMIM:201000 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... |
ORPHA:289176 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation, Hydronephrosis,... |
OMIM:614080 |
Chromosome 5Q12 Deletion Syndrome |
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Postnatal growth retardation, Increased nuchal translucency, Hypotension |
OMIM:615668 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sho... |
OMIM:251260 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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Hypoplasia of the bladder, Hydroureter, Short stature, Valvular pulmonary stenosis, Vesicouretera... |
OMIM:300707 |
Barber-Say Syndrome |
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Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Acute Liver Failure |
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Gastrointestinal hemorrhage, Shock, Acidosis, Jaundice, Cerebral edema, Hyperammonemia, Bruising ... |
ORPHA:90062 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Short stature, Prematurely aged appearance, Progeroid facial appearance, Hyperlipidem... |
ORPHA:90154 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Intrauterine growth retardation, Short stature, Progeroid facial appearance |
OMIM:608154 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
15Q Overgrowth Syndrome |
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Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Pu... |
ORPHA:314585 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Intrauterine growth retardation, Hydronephrosis |
OMIM:620327 |
Cardiac Valvular Dysplasia 1 |
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Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Edema, Cyanosis, Valvular pulmonary ste... |
OMIM:212093 |
Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr... |
ORPHA:254864 |
Werner Syndrome |
|
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Prematurely aged appearance, Proger... |
OMIM:277700 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Severe short stature, Abnormality of subcutaneous fat tissue, Thin skin |
ORPHA:1901 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Heart murmur, Severe... |
OMIM:615418 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Renal h... |
OMIM:146510 |
Cat Eye Syndrome |
|
Short stature, Renal agenesis, Horseshoe kidney, Pulmonic stenosis, Vesicoureteral reflux, Hydron... |
OMIM:115470 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:308050 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Attention deficit hyperactivity disorder, Vesicoureteral reflux, Intrauterine grow... |
ORPHA:250989 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Short stature, Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral r... |
OMIM:618454 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Increased nuchal translucency, Bruxism, Vesicoureteral reflux, Intrauterine growth retardation, P... |
ORPHA:453499 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Hydronephrosis, Webbed neck |
ORPHA:1780 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Lactic acidosis, Short stature |
ORPHA:1170 |
Neuroendocrine Tumor Of Stomach |
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Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Melena, Iron deficienc... |
ORPHA:100075 |
Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypospadias, Hypotension |
ORPHA:439822 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Postnatal growth retardat... |
ORPHA:487796 |
Pelvis-Shoulder Dysplasia |
|
Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor... |
ORPHA:2839 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Pollakisuria, Hypertension, Compulsive behaviors, Hypotension, Urinary bladder sphinct... |
ORPHA:93256 |
Interstitial Lung And Liver Disease |
|
Hyperammonemia, Lactic acidosis, Aminoaciduria, Thrombocytosis, Anemia |
OMIM:615486 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Hypospadias, Hydronephrosis |
OMIM:616449 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hyperglycinemia |
OMIM:614299 |
Geroderma Osteodysplastica |
|
Severe short stature, Prematurely aged appearance, Redundant skin, Growth delay, Thin skin |
ORPHA:2078 |
Al-Gazali Syndrome |
|
Hydronephrosis, Polyhydramnios |
OMIM:609465 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Erythema, Hor... |
ORPHA:2092 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2059 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short stature, Prematurely aged appearance, Progeroid facial appearance, Hyperlipidemia, Lack of ... |
ORPHA:90153 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Self-mutilation, Penoscrotal hyposp... |
OMIM:270400 |
Acute Radiation Syndrome |
|
Skin ulcer, Telangiectasia, Granulocytopenia, Hypotension, Scaling skin, Lymphopenia, Thrombocyto... |
ORPHA:454831 |
Trisomy 18 |
|
Short stature, Abnormality of the upper urinary tract, Growth delay, Webbed neck, Intrauterine gr... |
ORPHA:3380 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Palpitations, Facial telangiectasia... |
ORPHA:97287 |
Eec Syndrome |
|
Hypospadias, Short stature, Renal hypoplasia/aplasia, Xerostomia, Urethral atresia, Hypoplasia of... |
ORPHA:1896 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis, Subcutaneous lipoma |
OMIM:613001 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Web... |
OMIM:618000 |
Netherton Syndrome |
|
Hypernatremic dehydration, Urticaria, Angioedema, Hypereosinophilia |
OMIM:256500 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Short stature, Prematurely aged appearance, Impulsivity, Uni... |
OMIM:619950 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope... |
ORPHA:96092 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ... |
ORPHA:818 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hypertriglyceridemi... |
ORPHA:280365 |
3-Methylglutaconic Aciduria, Type Viii |
|
Increased serum lactate, Jaundice, Dysphagia, Growth delay, 3-Methylglutaric aciduria, 3-Methylgl... |
OMIM:617248 |
Leigh Syndrome |
|
Lactic acidosis, Increased serum lactate |
OMIM:256000 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Increased serum lactate, Lactic acidosis, Cardiomyopathy, Dysphagia, Intraut... |
ORPHA:572798 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Cystic Fibrosis |
|
Hypercalciuria, Dehydration, Hepatosplenomegaly |
OMIM:219700 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:96061 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Attention deficit hyperacti... |
OMIM:616580 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Melena, Palpitations, Hypotension, ... |
ORPHA:100080 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Redundant skin, Growth delay, Excessive wrinkled skin, Thin skin, Dry skin |
ORPHA:920 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Down Syndrome |
|
Prematurely aged appearance, Acute megakaryocytic leukemia, Renal hypoplasia/aplasia |
ORPHA:870 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Short stature, Hydronephrosis |
ORPHA:85201 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Short stature, Horseshoe kidney, Aortic valve stenosis, Hydronephrosis |
OMIM:272950 |
Raine Syndrome |
|
Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Hydronephrosis |
OMIM:259775 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Micropenis, Hydronephrosis |
OMIM:617798 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Glandu... |
ORPHA:2473 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Polyhydramnios |
OMIM:618975 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear... |
OMIM:615919 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Short stature, Progeroid facial appearance |
OMIM:617763 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Increased nuchal translucency,... |
ORPHA:280633 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lactic acidosis |
OMIM:618232 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Growth delay, Moderate albuminuria, Hydronephrosis, Proportionate short stature |
OMIM:619269 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Short stature, Cardiac conduction... |
ORPHA:353281 |
Stromme Syndrome |
|
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia |
ORPHA:90790 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis, Attention de... |
OMIM:617557 |
Short Syndrome |
|
Excessive wrinkled skin, Severe short stature |
ORPHA:3163 |
Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Renal agenesis, Short stature, Aggressive behavior, Impulsivity, Dilat... |
ORPHA:2044 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100082 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Edema, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Microcephaly, Amish Type |
|
Lactic acidosis |
OMIM:607196 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Aggressive behavior, Phonic tics, Growth delay, Attention deficit hyperactivi... |
OMIM:616973 |
Monosomy 22Q13.3 |
|
Hyperactivity, Palpebral edema, Lymphedema, Hair-pulling, Hydronephrosis, Bruxism, Vesicoureteral... |
ORPHA:48652 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Prematurely ag... |
ORPHA:3342 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Pulmonary arterial hypertension,... |
ORPHA:464738 |
Atypical Werner Syndrome |
|
Renal neoplasm, Prominent superficial veins, Hypertriglyceridemia, Short stature, Telangiectasia ... |
ORPHA:79474 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Short stature, Hypocalcemia, Intrauterine growth retardation, Hydronephrosis |
OMIM:300712 |
Distal Deletion 12Q |
|
Hyperactivity, Short stature, Ectopic kidney, Self-mutilation, Growth delay, Polycystic kidney dy... |
ORPHA:96149 |
Okamoto Syndrome |
|
Redundant neck skin, Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Severe post... |
ORPHA:2729 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Postnatal growth retardation, Intrauterine growth retardation, Dehydration, Oligohydramnios |
ORPHA:96191 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Dry skin, Hydroneph... |
ORPHA:2750 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Short stature, Erythema, Urticaria, Skin vesicle, Hypotension, Mastoc... |
ORPHA:2135 |
Tarp Syndrome |
|
Cyanosis, Extramedullary hematopoiesis, Horseshoe kidney, Intrauterine growth retardation, Hydron... |
ORPHA:2886 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Xerostomia, Hydronephrosis, Bladder di... |
OMIM:129900 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Short stature, Jaundice, Growth delay, Lactic acidosis, Metabolic acidosis, Acral ulceration, Pro... |
OMIM:256810 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Short stature, Growth delay, Attention deficit hyperactivity disord... |
ORPHA:2308 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:373 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Postnatal growth retardation, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Postnatal growth retardation, ... |
ORPHA:363958 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Tricuspid regurgitation, Rhizomelia, Ureteral hypoplasia, Pericardial ... |
ORPHA:79328 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Lactic acidosis, Restlessness, Increased serum lactate, Cerebral edema |
OMIM:617186 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Short stature, Renal dysplasia |
OMIM:300968 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Abnormal T-wave, Ureteropelvic jun... |
ORPHA:444072 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Lactic acidosis |
OMIM:245348 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid ... |
OMIM:123700 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, R... |
ORPHA:904 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis |
ORPHA:210122 |
3Mc Syndrome 1 |
|
Growth delay, Postnatal growth retardation, Conjunctival telangiectasia, Hydronephrosis |
OMIM:257920 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hype... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hype... |
ORPHA:353277 |
Campomelic Dysplasia |
|
Short stature, Hydronephrosis |
ORPHA:140 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Hypotension, Delayed puberty |
ORPHA:95619 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Short stature, Progeroid facial appearance, Postnatal growth retarda... |
OMIM:618150 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Dilatation of the ... |
OMIM:265380 |
Opitz Gbbb Syndrome |
|
Hypospadias, Short stature, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, ... |
ORPHA:2745 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Postnatal growth retardation, Co... |
OMIM:242840 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, M... |
OMIM:220111 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Violent behavior, Acute lymphoblastic leukemia, Webbed neck, Ureter... |
OMIM:280000 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypospadias, Hyperkalemia, Oligohydramnios, Horseshoe kidney, Micropenis, Hypertens... |
OMIM:201750 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Hypertension, Intrauterine grow... |
OMIM:616914 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Polyhydramnios, Renal cyst, Stillbirth, Chylot... |
OMIM:229850 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Proximal Spinal Muscular Atrophy |
|
Metabolic acidosis, Bradycardia, Dysphagia |
ORPHA:70 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Short stature, Tricuspid regurgitatio... |
OMIM:619127 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Progeroid facial appearance, Cutis laxa, Hypertension, Ischemic stroke, Thi... |
OMIM:208050 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Delayed menarche, Progeroid facial appearance, Dysphagia |
ORPHA:412057 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Grade III v... |
OMIM:619522 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Mic... |
OMIM:268310 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... |
OMIM:192350 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Trichothiodystrophy |
|
Prematurely aged appearance, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy,... |
ORPHA:33364 |
Biotinidase Deficiency |
|
Splenomegaly, Organic aciduria, Hyperammonemia, Metabolic ketoacidosis |
OMIM:253260 |
Chime Syndrome |
|
Abnormality of the kidney, Erythema, Skin ulcer, Acute leukemia, Hydronephrosis |
ORPHA:3474 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Intrauterine growth retardation |
ORPHA:255138 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Fragile skin, Nephrotic syndrome, Mitral regurgita... |
OMIM:601776 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis, Oligohydramnios |
OMIM:271520 |
Charge Syndrome |
|
Short stature, Polyhydramnios, Postnatal growth retardation, Horseshoe kidney, Attention deficit ... |
ORPHA:138 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Striae distensae, Prematurely aged appearance, Poor wound healing, Arter... |
ORPHA:287 |
Cousin Syndrome |
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Disproportionate short stature, Rhizomelia, Hydronephrosis |
OMIM:260660 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia, Cyanosis |
OMIM:618426 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Abnormality of the sp... |
ORPHA:1606 |
Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Arboleda-Tham Syndrome |
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Recurrent urinary tract infections, Dysphagia, Upper eyelid edema, Growth delay, Pulmonic stenosi... |
OMIM:616268 |
Schinzel-Giedion Midface Retraction Syndrome |
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Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Splenopancreatic fusio... |
OMIM:269150 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... |
ORPHA:709 |
Frontometaphyseal Dysplasia 1 |
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Hydroureter, Hydronephrosis |
OMIM:305620 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Short stature, Prematurely aged appearance, Urticaria, Cutaneous photosensitivity, Dry skin |
ORPHA:220295 |
Wrinkly Skin Syndrome |
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Short stature, Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and f... |
OMIM:278250 |
White-Kernohan Syndrome |
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Attention deficit hyperactivity disorder, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Tetrasomy 9P |
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Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Hyperactivity, Raynaud phenome... |
ORPHA:3310 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Increased nuchal translucency, Growth delay, Bruxism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Increased nuchal translucency, Growth delay, Bruxism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
Nestor-Guillermo Progeria Syndrome |
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Prominent superficial veins, Short stature, Progeroid facial appearance, Growth delay, Hypertensi... |
OMIM:614008 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Short stature, Telangiectasia of the skin, Transient ischemic attack, Redundant skin... |
ORPHA:286 |
Digeorge Syndrome |
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Renal insufficiency, Short stature, Unilateral renal agenesis, Thrombocytopenia, Splenomegaly, Hy... |
OMIM:188400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Short stature, Decreased serum iron, Nephrolithiasis, Stereotypical hand wringing, Pulmonic steno... |
ORPHA:438213 |
Poliomyelitis |
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Anorexia, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphagia |
ORPHA:2912 |
Otopalatodigital Syndrome Type 2 |
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Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Trisomy 8P |
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Fetal pyelectasis, Heart murmur, Nephrocalcinosis, Micropenis, Hydronephrosis |
ORPHA:264450 |
Premature Aging Syndrome, Penttinen Type |
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Corneal stromal edema, Prominent superficial veins, Prematurely aged appearance, Thin skin |
OMIM:601812 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Charge Syndrome |
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Renal agenesis, Polyhydramnios, Postnatal growth retardation, Self-mutilation, Delayed puberty, R... |
OMIM:214800 |
Mesomelia-Synostoses Syndrome |
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Mesomelic short stature, Hydronephrosis, Polyhydramnios |
OMIM:600383 |
Melnick-Needles Syndrome |
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Pulmonary arterial hypertension, Stillbirth, Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Oeis Complex |
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Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Wrinkly Skin Syndrome |
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Short stature, Postnatal growth retardation, Excessive skin wrinkling on dorsum of hands and fing... |
ORPHA:2834 |
Congenital Tricuspid Stenosis |
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Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Apert Syndrome |
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Rhizomelic arm shortening, Hydronephrosis |
OMIM:101200 |
Rubinstein-Taybi Syndrome 1 |
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Accessory spleen, Hyperactivity, Hypospadias, Short stature, Polyhydramnios, Impulsivity, Postnat... |
OMIM:180849 |
Schinzel-Giedion Syndrome |
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Myeloid leukemia, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis... |
ORPHA:798 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Lactic acidosis, Increased serum lactate, Elevated circulating alpha-fetoprotein concentration |
OMIM:614924 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Hypospadias, Short stature, Cutis marmorata, Ectopic kidney, Postnatal growth retard... |
OMIM:135900 |
Cockayne Syndrome Type 2 |
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Intrauterine growth retardation, Progeroid facial appearance |
ORPHA:90322 |
Autosomal Recessive Robinow Syndrome |
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Disproportionate short-limb short stature, Hypoplasia of penis, Multicystic kidney dysplasia, Hyd... |
ORPHA:1507 |
Frontometaphyseal Dysplasia |
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Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay |
ORPHA:1826 |
Holoprosencephaly 3 |
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Hydronephrosis |
OMIM:142945 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydromyelia, Mi... |
OMIM:615287 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Crossed fused renal ectopia, Short stature, Autoimmune thrombocytopenia, Postna... |
OMIM:147920 |
Robinow Syndrome |
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Multicystic kidney dysplasia, Short stature, Pulmonic stenosis, Webbed penis, Micropenis, Hydrone... |
ORPHA:97360 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Hypoka... |
ORPHA:91347 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Polyhydramnios, Stillbirth, Intrauterine growth retardation, Hydro... |
OMIM:236680 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Postnatal growth retardation, B lymphocytopenia, Intrauterine growth re... |
ORPHA:83617 |
Non-Functioning Pituitary Adenoma |
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Anemia of inadequate production, Pallor, Hypotension |
ORPHA:91349 |
Lenz-Majewski Hyperostotic Dwarfism |
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Abnormal penis morphology, Severe short stature, Hypospadias, Redundant skin, Prematurely aged ap... |
ORPHA:2658 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Mitral regurgitation, Pulmoni... |
ORPHA:363700 |
Johanson-Blizzard Syndrome |
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Hypospadias, Short stature, Urethrovaginal fistula, Increased VLDL cholesterol concentration, Con... |
OMIM:243800 |
Chromosome Xp11.3 Deletion Syndrome |
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Short stature, Progeroid facial appearance |
OMIM:300578 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Rhizomelia, Polyhydramnios, Postnatal growth retardation, Rena... |
OMIM:261540 |
Gabriele-De Vries Syndrome |
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Oral-pharyngeal dysphagia, Attention deficit hyperactivity disorder, Intrauterine growth retardat... |
ORPHA:506358 |
Lacrimoauriculodentodigital Syndrome |
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Xerostomia, Renal hypoplasia, Hydronephrosis, Dysphagia, Vesicoureteral reflux, Corneal neovascul... |
ORPHA:2363 |
Floating-Harbor Syndrome |
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Hypospadias, Short stature, Aggressive behavior, Glandular hypospadias, Nephrocalcinosis, Congeni... |
OMIM:136140 |
Campomelic Dysplasia |
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Hypospadias, Polyhydramnios, Disproportionate short-limb short stature, Neonatal short-limb short... |
OMIM:114290 |
Seckel Syndrome |
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Intrauterine growth retardation, Short stature, Prematurely aged appearance |
ORPHA:808 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
Cerebrotendinous Xanthomatosis |
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Prematurely aged appearance, Aggressive behavior, Increased serum lactate, Agitation, Attention d... |
ORPHA:909 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2273 |
Kid Syndrome |
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Psoriasiform dermatitis, Progeroid facial appearance, Postnatal growth retardation, Scaling skin,... |
ORPHA:477 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
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Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:224900 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Alexander Disease |
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Sudden cardiac death, Hypertension, Self-injurious behavior, Hypotension, Dysphagia |
ORPHA:58 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Polyhydramnios, Nephrocalcinosis, Abnormality ... |
ORPHA:79500 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Tongue thrusting, Hypotension |
OMIM:608643 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
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Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles |
OMIM:614941 |
Robinow Syndrome, Autosomal Dominant 1 |
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Rhizomelia, Short stature, Right ventricular outlet tract obstruction, Micropenis, Hydronephrosis... |
OMIM:180700 |
Prolactinoma |
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Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Lactic acidosis, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine ... |
OMIM:603041 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Elevated circulatin... |
OMIM:256040 |
Xeroderma Pigmentosum, Complementation Group B |
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Cutaneous photosensitivity, Short stature, Progeroid facial appearance |
OMIM:610651 |
Osteogenesis Imperfecta, Type Vii |
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Rhizomelia, Short stature, Hydronephrosis |
OMIM:610682 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hypospadias, Polyhydramnios, Splenomegaly, Renal cyst, Duplication of renal pelvis, Cardiomyopath... |
OMIM:312870 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydrops fetalis, Dispr... |
ORPHA:93271 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Short stature, Horseshoe kidney, Telangiectasia, Bifid ureter, Hydronephrosis |
OMIM:305600 |
Branchioskeletogenital Syndrome |
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Ureteral stenosis, Blepharochalasis, Periorbital wrinkles, Micropenis, Bladder exstrophy, Penoscr... |
ORPHA:1299 |
Plague |
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Tachycardia, Edema, Anorexia, Hematemesis, Splenomegaly, Skin ulcer, Hypotension, Arrhythmia, Dry... |
ORPHA:707 |
Viss Syndrome |
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Epidural hemorrhage, Prominent superficial blood vessels, Short stature, Polyhydramnios, Hypereos... |
OMIM:619472 |
Mowat-Wilson Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Short... |
ORPHA:2152 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Polyhydramnios, Dysphagia, Micropenis, Hydronephrosis |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Asplenia, Dysphag... |
ORPHA:261537 |
Otopalatodigital Syndrome, Type Ii |
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Hypospadias, Short stature, Postnatal growth retardation, Stillbirth, Hydronephrosis |
OMIM:304120 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Asplenia, Hyphema... |
ORPHA:261552 |
Neuroendocrine Neoplasm Of Appendix |
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Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Periorbital wrinkles, Dry skin, Hypohidrotic ectodermal dysplasia, Thin skin |
OMIM:305100 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Renal dysplasia, Short stature, Cardiomyopathy, Delayed puberty, Hydronephrosis |
ORPHA:480880 |
Keppen-Lubinsky Syndrome |
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Progeroid facial appearance, Lack of facial subcutaneous fat, Polyhydramnios |
OMIM:614098 |
Non-Acquired Panhypopituitarism |
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Pituitary dwarfism, Short stature, Growth delay, Hypotension, Delayed puberty |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Growth delay, Pituitary dwarfism, Hypotension, Delayed puberty |
ORPHA:95494 |