Central Diabetes Insipidus |
|
Hyponatremia, Diarrhea, Weight loss, Depression, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Failure to thrive, Proteinuria, Small for gestationa... |
ORPHA:97362 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Renal salt wasting, Diarrhea, Hyperkalemia, Vomit... |
OMIM:264350 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Decreased prealbumi... |
ORPHA:930 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli... |
ORPHA:47159 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Vomiting, Fail... |
OMIM:203400 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insu... |
OMIM:613845 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:610600 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Abnormal renal tubule morphology, Pulmonary edema, Diarrhea, Oliguria, Cardi... |
ORPHA:188 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Nausea, Abnormal circulating porphyrin concentration, Diarrhea, Respiratory insuffi... |
ORPHA:100924 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... |
ORPHA:427 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Diarrhea, Tachypnea, Abnormal blood ion concentrati... |
ORPHA:173 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Respiratory insufficiency... |
ORPHA:79273 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Pallor |
ORPHA:79283 |
Colchicine Poisoning |
|
Respiratory distress, Hyponatremia, Renal insufficiency, Diarrhea, Abnormal blood ion concentrati... |
ORPHA:31824 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting, Fa... |
ORPHA:556037 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Wheezing, Hyperkalemia, Weight loss, Increased circul... |
ORPHA:171876 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, V... |
ORPHA:340 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Respiratory insufficiency, Lethargy, Failure to thrive |
ORPHA:28 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Apnea, Vomiting |
OMIM:240200 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In... |
ORPHA:26792 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting, Fa... |
ORPHA:556030 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Nephrocalcinosis, Hypokalemia, Pallor, Distal renal tubular acidosis, Failure to thr... |
OMIM:611590 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Increased circulating renin level, Vomiting, Failure to thrive |
OMIM:177735 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperglutamatemia, Hyperammonemia, Vomiting, Lethargy, Failure to thrive |
OMIM:237310 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Pneumonia, Nausea, Respiratory tract infection, Dyspnea, Diarrhea, Hyperkal... |
ORPHA:544482 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Sudden episodic apnea, Elevated circulating acylcarnitine concentration, O... |
ORPHA:159 |
Sepsis In Premature Infants |
|
Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-reactive protei... |
ORPHA:90051 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Diarrhea, Nephrolithiasis, Weight loss, He... |
ORPHA:35710 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Snakebite Envenomation |
|
Hyponatremia, Epistaxis, Diarrhea, Erythema, Neuromuscular dysphagia, Respiratory failure, Pseudo... |
ORPHA:449285 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough |
ORPHA:64741 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Uraciluria, Failure to thrive |
OMIM:274270 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting |
OMIM:620126 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Dyspnea, Xerostomia, Oliguria, Skin ulcer, Gastroesophageal reflux, Pulmonar... |
ORPHA:220393 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... |
ORPHA:411634 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperglycinuria, Lethargy |
OMIM:605899 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Neonatal respiratory distress, Lethargy |
ORPHA:254857 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Sinusitis, Epistaxis, Diarrhea,... |
ORPHA:727 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Depression |
ORPHA:163921 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ... |
OMIM:619468 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:236270 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Pallor, Abnormality of iron homeostasis |
ORPHA:75563 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Diarrhea, Ileus, Re... |
ORPHA:79276 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac... |
OMIM:222748 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Vomiting |
ORPHA:622 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Hyperkalemi... |
ORPHA:682 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Recurrent pharyngitis... |
ORPHA:549 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Oliguria, Exertional dyspnea |
ORPHA:514 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Vomiting, Hypernatremia, Constipation, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Vomiting, Hypernatremia, Constipation, Failure to thrive |
OMIM:304800 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Small for gestational age, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting,... |
ORPHA:391673 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Elevated circulating C-reactive protein concentration,... |
ORPHA:319213 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... |
ORPHA:95409 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Oliguria, ... |
ORPHA:466650 |
Tuberculosis |
|
Abnormal lung morphology, Weight loss, Cough |
ORPHA:3389 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... |
OMIM:246450 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Apnea, Vomiting, Elevated urinary 3-methylcrotonylglycine level,... |
OMIM:210200 |
Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Diarrhea, Cutis laxa, Vomiting, Premature skin wrinkling... |
ORPHA:79325 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Diarrhea, Hyperkalemia, Wei... |
ORPHA:361 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, R... |
OMIM:605711 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Diarrhea, Hyperkalemia, Dry skin, Weight loss, Constipation, Hyperur... |
ORPHA:199299 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hyaline membranes, Small for gestational age |
OMIM:617065 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Chronic diarrhea, Hyperkalemia, Ga... |
OMIM:617053 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased circulating renin level, ... |
OMIM:214700 |
Renal Tubular Dysgenesis |
|
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot... |
OMIM:267430 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor, Dysphagia, Lethar... |
OMIM:613561 |
Lassa Fever |
|
Cough, Dyspnea, Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, ... |
ORPHA:263455 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
Benign Paroxysmal Torticollis Of Infancy |
|
Apathy, Pallor, Vomiting |
ORPHA:71518 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal... |
ORPHA:79230 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Peritonitis, Ur... |
ORPHA:810 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Recurrent upper respiratory tract infections, Secre... |
OMIM:618183 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Diarrhea, Weight loss, Aminoaciduria, Proximal tubulopathy, Vomit... |
OMIM:612075 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Functional abnormality of the bladder, Enure... |
ORPHA:223 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Cachexia, Diarrhea, Respiratory insufficiency, Depress... |
ORPHA:3452 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... |
ORPHA:567548 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia, Weight loss, Organic aciduria, Lethargy |
ORPHA:79242 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Renal salt wasting |
OMIM:300200 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Pallor, Lethargy, Increas... |
ORPHA:276556 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:618120 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... |
ORPHA:1667 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Met... |
OMIM:251000 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Redundant neck skin, Small for gestational age |
OMIM:610498 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Methylmalonic aciduria, Hyperhomocystinemia... |
OMIM:614857 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia |
OMIM:608688 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Nausea, Diarrhea, Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respirator... |
ORPHA:542323 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Episodic vomiting, Respiratory insufficiency |
OMIM:618224 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Pallor, Lethargy, Increas... |
ORPHA:276575 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Oral-pharyngeal dysphagia, Exertional dyspnea |
ORPHA:100083 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Renal insufficiency, Hyperammonemia, Lethargy, Failure to thrive |
ORPHA:79312 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Gastroe... |
OMIM:617913 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Neonatal asphyxia, Hyperkalemia, Increased circula... |
ORPHA:90791 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Pallor, Weight loss |
ORPHA:517 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy, Apnea, Vomiting |
OMIM:618225 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Early Myoclonic Encephalopathy |
|
Lethargy, Recurrent respiratory infections, Dysphagia |
ORPHA:1935 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Lethargy |
ORPHA:289916 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomiting, Lethargy, Failure... |
OMIM:237300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneo... |
ORPHA:731 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron, Lethargy |
OMIM:602390 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diarrhea, Peritonitis, Elevated circulating creatinine concentration, Blood... |
ORPHA:90038 |
Citrullinemia Type I |
|
Tachypnea, Hyperammonemia, Vomiting, Gastroesophageal reflux, Elevated plasma citrulline, Letharg... |
ORPHA:247525 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Respiratory failure, Vomiting, Patent urachus, Failure t... |
OMIM:618252 |
Infant Botulism |
|
Hyponatremia, Bowel incontinence, Respiratory insufficiency due to muscle weakness, Dyspnea, Xero... |
ORPHA:178478 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... |
OMIM:235400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, ... |
OMIM:619064 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, ... |
OMIM:212140 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Episodic vomiting, Homocitrullinuria |
OMIM:238970 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Acute hyperammonemia, Hyperglutaminemia, Diarrhea, Hyperammonemia, Vomiting... |
ORPHA:927 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Apneic episodes precipitated by illness, fat... |
OMIM:312170 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Pallor, Increased C-peptide level |
ORPHA:276580 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Pallor, Increased total bilirubin, Exertional dyspnea |
ORPHA:90037 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Apnea, Tachypnea, Hyperglycinuria, Hyperammonemia, Vom... |
OMIM:606054 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis, Failure t... |
OMIM:602722 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... |
ORPHA:99931 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia, ... |
OMIM:618426 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonem... |
OMIM:255120 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... |
OMIM:201475 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Pneumonia, Hyperkalemia, Vomiting, Failure to thrive |
ORPHA:90790 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia, Constipation |
ORPHA:526 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Depression |
ORPHA:83601 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Cachexia, Renal salt wasting, Diarrhea,... |
ORPHA:275761 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perianal erythema, Diarrhea, Decreased serum zinc, Perioral erythema, Lethargy... |
OMIM:201100 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Elevated circulating C-reactive... |
ORPHA:1930 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, ... |
OMIM:251110 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Failure to thrive |
OMIM:250620 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Neonatal respiratory distress, Renal insufficiency, Failure to th... |
OMIM:617595 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkale... |
ORPHA:85138 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Vomiting, Respiratory arrest,... |
OMIM:600649 |
Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abnormal lung m... |
ORPHA:767 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... |
ORPHA:36238 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Elevated circulating creatinine ... |
ORPHA:97292 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Vomiting, Hyp... |
OMIM:210210 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Adenohypophysitis |
|
Hyponatremia, Hyposthenuria, Pallor, Nausea |
ORPHA:95512 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Pallor, Increased body weight |
ORPHA:276608 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Pallor, Increased total bilirubin, Exertional dyspnea |
ORPHA:90036 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Nausea, Tachypnea, Episodic respiratory distress, Hyperkalemia, R... |
ORPHA:31826 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid l... |
OMIM:251100 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy |
OMIM:246900 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Abnormality ... |
ORPHA:1764 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine l... |
OMIM:253270 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Hypoventilation, Failure to thrive in infancy, Obesity, Tracheomalacia |
OMIM:620155 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Respiratory insufficiency, Vomiting, Lethargy, Failure to thrive |
OMIM:618228 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Elevate... |
ORPHA:90060 |
Severe Canavan Disease |
|
Lethargy, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Cyclic Vomiting Syndrome |
|
Lethargy, Vomiting, Pallor, Nausea |
OMIM:500007 |
Citrullinemia, Classic |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Vomiting, El... |
OMIM:215700 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Irida Syndrome |
|
Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Meningococcal Meningitis |
|
Renal insufficiency, Neonatal respiratory distress, Projectile vomiting, Elevated circulating C-r... |
ORPHA:33475 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Dermatitis, Atopic |
|
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin |
OMIM:603165 |
Panhypophysitis |
|
Hyponatremia, Hyposthenuria, Pallor, Nausea |
ORPHA:95513 |
Leishmaniasis |
|
Skin ulcer, Weight loss, Rhinitis, Hypoalbuminemia, Pallor |
ORPHA:507 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis, Cough |
ORPHA:163703 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomi... |
OMIM:618226 |
Sheehan Syndrome |
|
Hyponatremia, Obesity, Hyposthenuria, Constipation, Pallor, Dry skin, Nausea |
ORPHA:91355 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Renal insufficiency, Lethargy, Respiratory insufficiency |
ORPHA:27 |
Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Diarrhea, Tachypnea, Hyperammonemia, Weight loss, Apathy, Hyperuricemia, Pallor, Cough... |
ORPHA:134 |
Huntington Disease-Like 2 |
|
Weight loss, Bradykinesia, Depression, Apathy, Inertia |
OMIM:606438 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Dyspnea, Tachypnea, Hypercalciuria, Amino... |
OMIM:239200 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux, Hyper... |
OMIM:615926 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Skin ulcer, Pallor, Respiratory insufficiency |
ORPHA:848 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent pharyngitis, Recurrent pneumonia, Hyperkalemia, Bronchiectasis, Recurrent... |
ORPHA:293978 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Goodpasture Syndrome |
|
Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Pallor, Cough, Restrictive ventilatory de... |
OMIM:233450 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Hypo... |
ORPHA:534 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Hypospadias, Redundant skin, Recurrent pharyngiti... |
ORPHA:79324 |
Isovaleric Acidemia |
|
Lethargy, Vomiting, Hyperglycinuria |
OMIM:243500 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Pallor, Elevated h... |
OMIM:615234 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Respiratory insufficiency, Weight loss, Hematuria |
ORPHA:69077 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Respiratory failure, S... |
OMIM:614922 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Elevated circulat... |
ORPHA:26793 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalanine... |
ORPHA:254913 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Retinitis Pigmentosa 51 |
|
Pallor, Abnormality of the kidney, Obesity |
OMIM:613464 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Aneurysm Of Sinus Of Valsalva |
|
Dyspnea, Oliguria, Cough |
ORPHA:1054 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive, Apnea, Gastroesophageal reflux |
OMIM:611523 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... |
ORPHA:85450 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:168558 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Bowel incontinence, Chronic diarrhea, Abnormal pulmonary inters... |
ORPHA:330001 |
Evans Syndrome |
|
Epistaxis, Dyspnea, Pallor, Lethargy, Petechiae |
ORPHA:1959 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dysphagia, Hyperphenylalaninemia |
OMIM:233910 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Cardiorespiratory arrest, Lethargy, Hypoprotein... |
ORPHA:99828 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Constipation, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diarrhea, Pallor |
ORPHA:49827 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:289548 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Dry skin, Constipation |
OMIM:274400 |
Idiopathic Intracranial Hypertension |
|
Obesity, Depression, Vomiting, Lethargy, Nausea |
ORPHA:238624 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmin con... |
OMIM:620306 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... |
OMIM:311250 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Vomiting |
OMIM:201450 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Vomiting, ... |
ORPHA:470 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Diarrhea, Chronic kidney disease, Hypermagnesemia, Vomiting, Hyperuricemia, ... |
ORPHA:469 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Rheumatic Fever |
|
Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in... |
ORPHA:3099 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Diarrhea, Pallor |
ORPHA:56425 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... |
ORPHA:348 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Lethargy, Transient hyperlipidemia |
ORPHA:156 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Vomiting, Lethar... |
OMIM:608836 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Apnea, Diarrhea, Tachypnea, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Ap... |
ORPHA:20 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Lethargy |
ORPHA:71277 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... |
OMIM:201810 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Vomiting, Leth... |
ORPHA:2169 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... |
OMIM:617671 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Neonatal hyperb... |
ORPHA:3008 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Cachexia, Abnormal re... |
ORPHA:60033 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Vomiting, Hyperg... |
OMIM:614299 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Hype... |
OMIM:277380 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Elevated circulating C-reactive protein c... |
ORPHA:1302 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Urinary incontinence, Cachexia, Depression |
OMIM:618093 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... |
ORPHA:79284 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Dyspnea, Respiratory insufficie... |
OMIM:610505 |
Chronic Hiccup |
|
Weight loss, Depression |
ORPHA:396 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Megacystis, Pyelonephrit... |
OMIM:619351 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Vomiting, Hyperammonemia |
OMIM:616483 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Chronic diarrhea, Hypercalciuria, Steatorrhea, 3-Methylgluta... |
OMIM:557000 |
Argininosuccinic Aciduria |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduri... |
OMIM:207900 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... |
OMIM:601678 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:277410 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Dry skin, Depression, Lethargy, Abnormal circulating thyroglobulin level |
ORPHA:99832 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Abnormal pulmonary interstitial morphology, Con... |
ORPHA:99745 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Hypoalbuminemia, Hy... |
OMIM:615508 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Vomiting... |
ORPHA:213 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh... |
ORPHA:2902 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... |
OMIM:620233 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypospadias, Small for gestational age, Recurrent pneumonia, Recurrent uppe... |
OMIM:607143 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia |
OMIM:606353 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Gastroesophageal ... |
ORPHA:90045 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased serum iron, Pallor, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di... |
ORPHA:103910 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Pituitary Apoplexy |
|
Hyponatremia, Pallor |
ORPHA:95613 |
Japanese Encephalitis |
|
Respiratory distress, Hyponatremia, Pulmonary edema, Diarrhea, Respiratory paralysis, Vomiting, A... |
ORPHA:79139 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Diarrhea, Failure to thrive, Weight loss |
OMIM:620045 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardio... |
OMIM:212138 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Lethargy, Increased level of L-fucose in urine, Increased level ... |
OMIM:215600 |
Spontaneous Periodic Hypothermia |
|
Pallor, Abnormal pattern of respiration, Diarrhea |
ORPHA:29822 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, Myoglobinuria, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase ... |
ORPHA:423 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Childhood Absence Epilepsy |
|
Depression, Pallor, Urinary incontinence, Hyperventilation |
ORPHA:64280 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Lethargy, Breathing dysregulation |
OMIM:618232 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Abnormal renal corticomedullary d... |
OMIM:617397 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Failure to thrive, Mildly elevated creatine kinase |
ORPHA:536516 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubin... |
OMIM:617156 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Recurrent pneumonia, Chronic diarrhea, Skin ulcer, Weight lo... |
ORPHA:47 |
Biotinidase Deficiency |
|
Apnea, Diarrhea, Tachypnea, Hyperammonemia, Organic aciduria, Vomiting, Lethargy |
OMIM:253260 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Central hypoventilation, Asthma, Hyperlipidemia, Hyperkalemia, Rec... |
ORPHA:293987 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Constipation |
ORPHA:101150 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... |
ORPHA:90794 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Diarrhea, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:33355 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Abnormal respiratory system physiology |
ORPHA:324581 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Restrictive ventilatory defect, Pallor, Failure to thrive, Increased circulating ferritin concent... |
OMIM:600462 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss, Neoplasm of the lung |
ORPHA:654 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria, Weight loss, Vomiting, Pallor, Constipation, Failure to thrive |
ORPHA:35858 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Constipation, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Scrub Typhus |
|
Renal insufficiency, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy |
ORPHA:83317 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Respiratory insuffi... |
ORPHA:2162 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Apath... |
ORPHA:465508 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Lethargy |
OMIM:617105 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic iron concentration, Co... |
OMIM:619991 |
Perry Syndrome |
|
Weight loss, Apathy, Central hypoventilation, Depression |
ORPHA:178509 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo... |
OMIM:263800 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, Abnormality of u... |
OMIM:256700 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level |
OMIM:218030 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfac... |
ORPHA:60025 |
Yao Syndrome |
|
Asthma, Diarrhea, Xerostomia, Nephrolithiasis, Weight loss, Pleuritis |
OMIM:617321 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Increased serum pyruvate, Lethargy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Pallor, Exertional dyspnea |
ORPHA:90033 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Diarrhea, Weight loss, Hypoalbuminemia |
OMIM:209950 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Methylmalonic aciduria, Vomiting, Lethargy, Failure to thrive |
OMIM:275350 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Pallor, Weight loss |
ORPHA:3226 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Increased serum iron, Pallor, Elevated hepatic iron... |
ORPHA:300298 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Apnea, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive, Hom... |
ORPHA:395 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Asthma, Secretory diarrhea, Grade II vesicoureteral reflux, Weight loss, Hypokalemia... |
OMIM:619377 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of... |
ORPHA:1501 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Depression, Bradykinesia, Weight loss, Abnormal circulating cholestero... |
ORPHA:399 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Hypokalemia, Acute ... |
ORPHA:330021 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Hypoperistalsis, ... |
ORPHA:1018 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Pallor, Decreased body weight, Ves... |
OMIM:609053 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Increased circulating NT-proBNP concentration, ... |
ORPHA:85443 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency due to muscle wea... |
ORPHA:18 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Pallor, Unconjugated ... |
OMIM:300908 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... |
OMIM:612780 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Respiratory insufficiency, Respiratory failure, Hypocalcemia, Lethargy |
ORPHA:746 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Pulmonary embolism, Dysp... |
ORPHA:447 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Diarrhea, Abnor... |
ORPHA:54251 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Asthma, Diarrhea, Dysph... |
ORPHA:2070 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Dry skin, Depression, Constipation, Hypercholesterolemia, Abnormal circulating... |
ORPHA:90674 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Proximal tubulopathy, Pallor, Abnormality of iron homeostasis, Elevated hepatic iron ... |
ORPHA:231222 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Respiratory insufficiency, Proximal tubulopathy, Vomiting, Lethargy, Fa... |
ORPHA:2609 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Recurrent respiratory infections, Hypertriglyceridemia, Epistaxis, Increased circul... |
ORPHA:167 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte... |
OMIM:266600 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Methylma... |
ORPHA:79282 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Pallor, Hemoglobinuria |
OMIM:194380 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Bronchiectasi... |
ORPHA:79128 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Tachypnea, Hyperammonemia, Hyperornithinemia, Lethargy, Oroticaciduria, Episod... |
ORPHA:415 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... |
ORPHA:747 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Sinusitis, Proteinuria, Recurrent intrapulmonary hemorrhage,... |
ORPHA:183 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Increased urine succinate level, Bilateral fetal pyelectasis, Elevated... |
OMIM:606812 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Constipation, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Solitary Fibrous Tumor |
|
Reduced C-peptide level, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Urinary rete... |
ORPHA:2126 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Lung abscess, Dyspnea, Diarrhea, Weight loss, Bloody diarrhea, Protracted... |
ORPHA:67 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Weight loss, Restric... |
ORPHA:98897 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive |
OMIM:560000 |
Polymyositis |
|
Gastrointestinal hemorrhage, Abnormal renal tubule morphology, Elevated circulating creatine kina... |
ORPHA:732 |
Acute Promyelocytic Leukemia |
|
Purpura, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Weight loss, Hematuria, Stomat... |
ORPHA:520 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Dysphagia, Weight loss |
ORPHA:2198 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Lack of skin elasticity, Weight loss, Abnormal circulating lipid concentration, Hyperli... |
ORPHA:1979 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Renal agenesis, Small for gestational age... |
ORPHA:1199 |
Classic Galactosemia |
|
Lethargy, Diarrhea, Vomiting, Depression |
ORPHA:79239 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Depression, Bradykinesia, We... |
OMIM:168605 |
Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Pallor, Dysphagia |
ORPHA:54028 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Juvenile Huntington Disease |
|
Bradykinesia, Weight loss, Depression |
ORPHA:248111 |
Congenital Heart Block |
|
Pleural effusion, Pallor, Crackles |
ORPHA:60041 |
Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bronchitis, Neonatal asphyxia, D... |
ORPHA:420741 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Enterocolitis, Weight loss, Vo... |
ORPHA:95427 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Bradykinesia, Pallor, Dysphagia, Depression |
ORPHA:13 |
Erythrokeratodermia Variabilis |
|
Erythema, Dry skin, Weight loss |
ORPHA:317 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Weight loss, Gastroesophageal reflux, Hypoalbuminemia, Vom... |
ORPHA:2494 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Obesity, Facial erythema, Hypokalemia, Abdominal obesity, Ecchymosis, Striae dis... |
OMIM:219090 |
Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Elev... |
ORPHA:93672 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Respiratory insufficiency, Weight loss, Inflammation of the large intesti... |
ORPHA:26790 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:91139 |
Dravet Syndrome |
|
Bradykinesia, Pallor |
ORPHA:33069 |
Tay-Sachs Disease |
|
Aspiration, Apathy, Pallor |
OMIM:272800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Refractory Celiac Disease |
|
Hypomagnesemia, Chronic diarrhea, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, H... |
ORPHA:398063 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Hypertriglyceridemia, Hyperglycerolemia, L... |
OMIM:307030 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea, Lethargy |
ORPHA:3282 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Diarrhea, Respiratory insufficiency,... |
ORPHA:33226 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Dyspnea, Diarrhea, Skin ulcer, Pallor, Abnormality of iron homeostasis |
ORPHA:231226 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Weight loss, Abnormal breath sound, Cough |
ORPHA:97289 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase concentration, Re... |
ORPHA:254892 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Diarr... |
ORPHA:653 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Dyspnea, Erythema, Weight loss, Nephrotic syndrome, Interstitial pneumonitis... |
ORPHA:139402 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Redundant neck skin, Diarrhea, Respiratory insufficiency, Weigh... |
ORPHA:1842 |
Fatal Familial Insomnia |
|
Apnea, Weight loss, Urinary retention, Constipation, Dysphagia |
OMIM:600072 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Elevated circulating creatine kinase concentration, Depression |
OMIM:617675 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperammonemia, Organic aciduria, Lethargy, Hyperventilation |
ORPHA:79241 |
Majeed Syndrome |
|
Glomerulopathy, Failure to thrive, Proteinuria, Cachexia, Weight loss, Cough, Microscopic hematuria |
ORPHA:77297 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea, Lethargy |
ORPHA:765 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Pallor, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Encephalitis Lethargica |
|
Lethargy, Urinary incontinence, Bowel incontinence, Hyperventilation |
ORPHA:83600 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Diarrhea, Weight loss, Gastroesophageal reflux, Vomiting, Dysphagia, Hyperalaninemia, N... |
ORPHA:298 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... |
ORPHA:29073 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Cough, Glomerulopathy, Ureteral... |
ORPHA:900 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Hypokalemia, Nausea, Decreased circulating renin level |
ORPHA:231580 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Thickened glomerular baseme... |
OMIM:619487 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Renal cortical adenoma, Hypokalemia, Nausea, Decreased circulating renin level |
ORPHA:231632 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Stridor, Neoplas... |
ORPHA:142 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Constipation, Increased circulating thyroglobulin level |
ORPHA:226316 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Renal cyst, Vomiting, Pallor, Cough, Lethargy, Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Giant Cell Arteritis |
|
Renal insufficiency, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Skin ulcer, De... |
ORPHA:397 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Pneumonia, Elevated circulating C-reactive protein concentration, Bronchitis, Diarrhea... |
OMIM:619381 |
Glycine Encephalopathy |
|
Hyperglycinemia, Respiratory acidosis, Lethargy, Breathing dysregulation |
ORPHA:407 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Hypokalemia, Epistaxis, Nausea |
ORPHA:251274 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Asthma, Weight los... |
ORPHA:449400 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Dyspnea, Diarrhea, Skin ulcer, Pallor, Abnormality of iron homeostasis |
ORPHA:231214 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Apnea, Lacticaciduria, Respiratory insufficiency, Re... |
OMIM:252010 |
American Trypanosomiasis |
|
Dyspnea, Diarrhea, Pallor, Cough, Achalasia |
ORPHA:3386 |
Ogden Syndrome |
|
Lethargy, Pulmonary artery stenosis, Cutis laxa |
ORPHA:276432 |
Primary Intestinal Lymphangiectasia |
|
Chronic diarrhea, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion, H... |
ORPHA:90362 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor, Decreased serum iron |
OMIM:616959 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Hematemesis, Dia... |
ORPHA:99829 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Xerostomia, Obesity, Abdominal obesity, Lethargy, Micropenis, F... |
ORPHA:398079 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Dyspnea, Diarrhea, Dysphagia, Melena, Vomiting, Cough, Lethargy, Nausea |
ORPHA:319218 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Anemic pa... |
ORPHA:86839 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Epistaxis, Nausea |
ORPHA:403 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Follicular Lymphoma |
|
Pleural effusion, Weight loss |
ORPHA:545 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine kinase |
ORPHA:681 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Hypokalemia, Nausea, Decreased circulating renin level |
ORPHA:231625 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Pallor, Facial erythema |
ORPHA:439218 |
Felty Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent pharyn... |
ORPHA:47612 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Gastrointestinal hem... |
ORPHA:537 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abno... |
ORPHA:36426 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Hirschsprung Disease |
|
Intestinal obstruction, Failure to thrive in infancy, Diarrhea, Weight loss, Constipation |
ORPHA:388 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Constipation, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin, Cachexia, Abnormal circulating creatine concentration, Ileus, Constipation |
ORPHA:52503 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Xerostomia, Increased body weight, Chronic constipation, Abdomi... |
ORPHA:398069 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Bowel incontinence, Res... |
ORPHA:702 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Epistaxis, Nausea |
ORPHA:404 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Stridor, Constipation, Hyperbilirubinemia, Lethargy, D... |
OMIM:218700 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Elevated circulating phyta... |
OMIM:614866 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Weight loss, Depression, Vomiting, Hypocalcemia, Recurrent aphthous stomatitis, Steator... |
OMIM:212750 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Asthma, Renal cyst, Weight loss, Membranous nephropathy... |
ORPHA:400 |
Castleman Disease |
|
Renal insufficiency, Intestinal obstruction, Elevated circulating C-reactive protein concentratio... |
ORPHA:160 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Nausea, Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, ... |
ORPHA:37042 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Dry skin, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss, Bradykinesia, Depression, Chronic constipation, Apathy,... |
ORPHA:411602 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Erythema, Vomiting, Lethargy, Episodic vomiting |
OMIM:618321 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Nonprod... |
ORPHA:99826 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Huntington Disease-Like 1 |
|
Bradykinesia, Weight loss, Depression |
ORPHA:157941 |
Hereditary Spherocytosis |
|
Skin ulcer, Pallor, Hyperbilirubinemia |
ORPHA:822 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency |
ORPHA:157973 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Apnea, Diarrhea, Cardiorespiratory arrest, Constipation, Gastroesophageal reflux, Lethargy |
OMIM:608643 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Failure to thrive, Pallor, Protracted dia... |
ORPHA:331206 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Abnormal pattern of respiration, Skin ulcer, Weight loss |
ORPHA:3287 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Hypokalemia, Pulmonary arterial hypertension, Nausea |
ORPHA:369929 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss |
ORPHA:312 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Thymoma |
|
Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Neoplasm of the lung, Neoplasia of ... |
ORPHA:99867 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypospadias, Small for gestational age, Vesicovaginal fistula, Hyperkalemia, Horses... |
OMIM:201750 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Hypocalcemia, Chronic rhiniti... |
ORPHA:667 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Skin ulcer, Intrarenal abscess, Vomiting, Leth... |
ORPHA:68 |
Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation |
ORPHA:160148 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss, Dysphagia, Depression |
ORPHA:93958 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Dyspnea, Diarrhea, Weight loss, Elevated ca... |
ORPHA:100085 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Weight loss |
ORPHA:42642 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Pneumonia, Abnormal... |
ORPHA:2298 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Nausea |
ORPHA:71273 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Vomiting, Dysphagia |
OMIM:607483 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive |
OMIM:174900 |
Aregenerative Anemia |
|
Dyspnea, Pallor, Depression |
ORPHA:101096 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Kaposi Sarcoma |
|
Abnormal lung morphology, Diarrhea, Weight loss |
ORPHA:33276 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Letterer-Siwe Disease |
|
Stomatitis, Dyspnea, Pallor |
OMIM:246400 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Small for gestational age, Anemic pallor, Ectopic k... |
OMIM:227650 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Respiratory insufficiency... |
OMIM:608710 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia, Aspiration pneumonia, Cough |
ORPHA:216866 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Hematemesis, Diarrhea, Nephrolithiasis, Hypercalciuria, Depression, Weight loss, M... |
ORPHA:652 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Oral-pharyngeal dysphagia, Diarrhea, Vomiting, Pallor, Constipation,... |
ORPHA:2131 |
Riboflavin Transporter Deficiency |
|
Cachexia, Respiratory insufficiency, Dysphagia |
ORPHA:97229 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Small for gestational age, Renal agenesis, Anemic pallor, Ectopic k... |
OMIM:600901 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Elevated circulating C-reactive protein concentration, Weigh... |
ORPHA:324964 |
Bullous Pemphigoid |
|
Erythema, Weight loss |
ORPHA:703 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Gastroesophageal reflux, Pallor, Hypospadi... |
OMIM:619488 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the lung, Ileus, Cachexia, Weight loss |
ORPHA:83469 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Gastroparesis, Cachexia, Diarrhea, Weight loss, ... |
OMIM:603041 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Hypospadias, Cachexia, Dry skin |
ORPHA:217346 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, P... |
ORPHA:35687 |
Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Thymic Carcinoma |
|
Dyspnea, Weight loss, Cough |
ORPHA:99868 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Respiratory insufficiency, Respiratory failure, Gastroesophageal reflux, Neonatal death |
OMIM:618186 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalce... |
ORPHA:913 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Renpenning Syndrome |
|
Hypospadias, Cachexia |
ORPHA:3242 |
Arima Syndrome |
|
Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Renal corti... |
OMIM:243910 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Pallor, Nausea, Weight loss |
ORPHA:98849 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Weight ... |
ORPHA:440437 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Classic Hodgkin Lymphoma |
|
Weight loss, Respiratory insufficiency, Cough |
ORPHA:391 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Chronic diarrhea, Dysphagia, Colitis, ... |
ORPHA:3260 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Polyuria, Pulmonary arterio... |
OMIM:606721 |
Chronic Graft Versus Host Disease |
|
Diarrhea, Phimosis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasis... |
ORPHA:99921 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Constipation, Weight loss |
ORPHA:168816 |
Gitelman Syndrome |
|
Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhea, H... |
ORPHA:358 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Vomiting, Pallor, Weight loss |
ORPHA:91347 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Hypercalciuria, Abnormal pulmonary interstitial morphology, Hypoxemia, R... |
OMIM:181000 |
Q Fever |
|
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Hematur... |
ORPHA:781 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Diarrhea, Dysphagia, Weight loss |
ORPHA:1332 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Brucellosis |
|
Lung abscess, Small for gestational age, Pneumonia, Elevated circulating C-reactive protein conce... |
ORPHA:1304 |
Pancreatoblastoma |
|
Diarrhea, Vomiting, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Kufor-Rakeb Syndrome |
|
Urinary incontinence, Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy |
ORPHA:306674 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Elevated circulating C-reactive protein conc... |
OMIM:301074 |
Hartsfield Syndrome |
|
Micropenis, Hypernatremia, Hypospadias |
OMIM:615465 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Depression |
ORPHA:905 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Peritonitis, Weight loss, Respiratory failure, Pleural effusion, Abn... |
ORPHA:679 |
Flynn-Aird Syndrome |
|
Skin ulcer, Cachexia |
ORPHA:2047 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Weight loss |
ORPHA:2221 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Alobar Holoprosencephaly |
|
Central apnea, Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal re... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal re... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal re... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Dysphagia, Depression, Apathy, Vomiting, Aspiration pneumonia, Gastroesophageal re... |
ORPHA:220386 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Small for gestational age, Renal agenesis, Anemic pallor, Ectopic k... |
OMIM:227645 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Abnormal pleura morphology, Diarrhea, Respiratory insufficien... |
ORPHA:29207 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Erythema, Chronic diarrhea, Skin ulcer, Weight loss, Dry skin |
ORPHA:37 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Renal agenesis, Hypospadias, Horseshoe kidney, Pallor, Lethargy |
ORPHA:124 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Necrolytic migratory erythema... |
ORPHA:97280 |
Scorpion Envenomation |
|
Purpura, Increased circulating NT-proBNP concentration, Ketonuria, Diarrhea, Tachypnea, Erythema,... |
ORPHA:466677 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Vipoma |
|
Hypercalcemia, Respiratory insufficiency due to muscle weakness, Erythema, Secretory diarrhea, We... |
ORPHA:97282 |
Benign Recurrent Intrahepatic Cholestasis |
|
Chronic diarrhea, Weight loss |
ORPHA:65682 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Small for gestational age, Anemic pallor, Ectopic k... |
OMIM:227646 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Bronchitis, Cachexia, Peritonitis, Urethritis, Chronic diarrhea, Weight los... |
ORPHA:2552 |
Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Constipation |
ORPHA:226307 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Chronic diarrhea, La... |
ORPHA:699 |
Medulloblastoma |
|
Neoplasm of the lung, Lethargy |
ORPHA:616 |
Eisenmenger Syndrome |
|
Respiratory distress, Renal insufficiency, Elevated circulating C-reactive protein concentration,... |
ORPHA:97214 |
Non-Functioning Pituitary Adenoma |
|
Vomiting, Pallor |
ORPHA:91349 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr... |
ORPHA:90795 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Weight loss, Gastroesophageal reflux, Aspiration pneumonia, Dys... |
ORPHA:354 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Dyspnea, Weight loss, Pulmonary fibr... |
ORPHA:79430 |
Trichinellosis |
|
Lethargy, Apathy, Nausea, Dysphagia |
ORPHA:863 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system, ... |
ORPHA:813 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduce... |
OMIM:613673 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Von Hippel-Lindau Disease |
|
Renal cell carcinoma, Multiple renal cysts, Pallor, Elevated urinary catecholamine level |
ORPHA:892 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
Congenital Tufting Enteropathy |
|
Chronic diarrhea, Secretory diarrhea, Weight loss, Vomiting, Steatorrhea, Failure to thrive |
ORPHA:92050 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Weight loss, Vomiting, Polycystic kidney dysplasia, Abnormal circu... |
ORPHA:53035 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Respiratory insufficiency, Weight loss, Depression, Dysphagia, Mildly elevated cre... |
OMIM:607459 |
Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh... |
ORPHA:370348 |
Sarcoidosis |
|
Renal insufficiency, Hypercalcemia, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:797 |
Neuroendocrine Tumor Of The Rectum |
|
Bloody diarrhea, Hematochezia, Weight loss, Protracted diarrhea, Bronchospasm, Constipation, Melena |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bloody diarrhea, Hematochezia, Weight loss, Protracted diarrhea, Bronchospasm, Constipation, Melena |
ORPHA:100082 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Hypokalemia, Micropenis, Failure to thrive, Increased urinary 11-deoxycorticosterone... |
ORPHA:90793 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... |
OMIM:164310 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Dyspnea, Renal cyst, Weight loss, Vomiting, Cough, Abnormal bladder morphology |
ORPHA:284 |
8P23.1 Microdeletion Syndrome |
|
Pulmonary artery stenosis, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Hematemesis, Increased circulating ferritin concentration, Diarrhe... |
OMIM:615846 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Weight loss, Depression |
OMIM:137440 |
Neuroendocrine Tumor Of The Colon |
|
Bloody diarrhea, Melena, Protracted diarrhea, Weight loss, Bronchospasm |
ORPHA:100080 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Constipation, Cachexia |
ORPHA:371364 |
Pyomyositis |
|
Renal insufficiency, Weight loss |
ORPHA:764 |
Prolactinoma |
|
Vomiting, Pallor |
ORPHA:2965 |
Loeffler Endocarditis |
|
Dyspnea, Weight loss, Cough |
ORPHA:75566 |
Grfoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Weight loss, Neopla... |
ORPHA:97261 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Cronkhite-Canada Syndrome |
|
Diarrhea, Cachexia |
ORPHA:2930 |
Glossopharyngeal Neuralgia |
|
Weight loss, Oral-pharyngeal dysphagia, Depression |
ORPHA:221098 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
Ppoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Weight loss, Consti... |
ORPHA:97278 |
Nelson Syndrome |
|
Increased urinary cortisol level, Hypokalemia, Striae distensae |
ORPHA:199244 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Gastroesophageal reflux, Constipation |
OMIM:312750 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Weight loss |
ORPHA:98850 |
Primary Sclerosing Cholangitis |
|
Renal insufficiency, Ulcerative colitis, Weight loss, Depression, Hypoalbuminemia, Pleural effusion |
ORPHA:171 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Respiratory insufficiency |
ORPHA:93941 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Weight loss, Consti... |
ORPHA:97283 |
Rabson-Mendenhall Syndrome |
|
Long penis, Nephrocalcinosis, Hypokalemia, Dry skin, Increased C-peptide level |
ORPHA:769 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Weight loss |
ORPHA:33577 |
Short Syndrome |
|
Excessive wrinkled skin, Weight loss |
ORPHA:3163 |
Diamond-Blackfan Anemia 1 |
|
Pallor, Failure to thrive, Renal hypoplasia |
OMIM:105650 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Dermatomyositis |
|
Recurrent respiratory infections, Erythema, Abnormal pulmonary interstitial morphology, Respirato... |
ORPHA:221 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
Infantile Krabbe Disease |
|
Respiratory distress, Cachexia, Respiratory failure, Vomiting, Gastroesophageal reflux, Failure t... |
ORPHA:206436 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Necrotizing enterocolitis, E... |
OMIM:619573 |
Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
Wolman Disease |
|
Cachexia, Steatorrhea |
ORPHA:75233 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Weight loss, Constipation, Depression |
ORPHA:144 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu... |
ORPHA:2905 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pe... |
ORPHA:31204 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Weight loss |
ORPHA:131 |
Leprechaunism |
|
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Dec... |
ORPHA:508 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Respiratory insufficiency, Weight loss |
ORPHA:729 |
Neuroendocrine Tumor Of Stomach |
|
Hematemesis, Bloody diarrhea, Protracted diarrhea, Weight loss, Melena, Bronchospasm, Intermitten... |
ORPHA:100075 |
Zttk Syndrome |
|
Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Chronic diarrhea, Horseshoe kidney... |
OMIM:617140 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Dysphagia, Weight loss |
ORPHA:97286 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pulmonary embolism, Weight loss... |
ORPHA:117 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Recurrent pneumon... |
ORPHA:647 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Obesity, Cachexia |
ORPHA:85293 |
Oculogastrointestinal Muscular Dystrophy |
|
Gastroparesis, Cachexia |
ORPHA:1876 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor |
ORPHA:329971 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Ileal Neuroendocrine Tumor |
|
Nausea, Weight loss, Intermittent diarrhea, Episodic vomiting, Hydronephrosis |
ORPHA:100078 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Long penis, Decreased circulating renin level |
OMIM:202010 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypokalemia |
ORPHA:786 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Schwartz-Jampel Syndrome |
|
Apnea, Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, N... |
ORPHA:800 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Erythema, Abnormal pulmonary interstitial ... |
ORPHA:50918 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Diarrhea, Hematochezia, Melena, Intestinal bleeding, Hypoa... |
ORPHA:79076 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Diarrhea, Bronchiectasis, Weight loss, Cough |
OMIM:614162 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Small cell lung carcinoma, Diarrhea, Increased body weight, Ski... |
ORPHA:99889 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Rat-Bite Fever |
|
Diarrhea, Weight loss, Vomiting, Scaling skin, Parotitis |
ORPHA:31205 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Cachexia, Steatorrhea |
ORPHA:3217 |
Malt Lymphoma |
|
Recurrent respiratory infections, Constipation, Weight loss |
ORPHA:52417 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Weight loss... |
ORPHA:576 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Cachexia |
ORPHA:220295 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Dysphagia, Depression, Bradykinesia, Weight l... |
ORPHA:2388 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Trisomy 18 |
|
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Tropical Pancreatitis |
|
Vomiting, Nausea, Weight loss |
ORPHA:103918 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Familial Pancreatic Carcinoma |
|
Intermittent diarrhea, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:1333 |
Gallbladder Neuroendocrine Tumor |
|
Nausea, Weight loss |
ORPHA:100086 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Weight loss |
ORPHA:71493 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
African Trypanosomiasis |
|
Renal insufficiency, Urinary incontinence, Diarrhea, Weight loss, Vomiting, Apathy, Nausea |
ORPHA:3385 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Abnormal pulmonary interstitial morphology, Skin ulce... |
ORPHA:2072 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation, Slender build, Striae... |
ORPHA:558 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Xerostomia, Weight loss |
ORPHA:79078 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Camurati-Engelmann Disease |
|
Slender build, Urinary retention, Cachexia |
ORPHA:1328 |
Hutchinson-Gilford Progeria Syndrome |
|
Upper airway obstruction, Lack of skin elasticity, Weight loss, Severe failure to thrive, Pulmona... |
ORPHA:740 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Redundant skin, Pneumothorax, Cystocele, Renovascular hypertension, Respiratory insu... |
ORPHA:286 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Proteus Syndrome |
|
Cachexia, Pulmonary embolism, Long penis, Abnormal lung lobation, Renal cyst, Neoplasm of the lun... |
ORPHA:744 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Tropical Endomyocardial Fibrosis |
|
Orthopnea, Cachexia, Dyspnea, Pulmonary venous hypertension, Hypoalbuminemia |
ORPHA:75565 |
Stickler Syndrome |
|
Recurrent respiratory infections, Slender build, Cachexia, Gastroesophageal reflux |
ORPHA:828 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |