Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H... |
OMIM:203400 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... |
OMIM:103900 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D... |
ORPHA:556030 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system... |
OMIM:264350 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... |
OMIM:177735 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... |
ORPHA:427 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, N... |
ORPHA:223 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary po... |
ORPHA:95409 |
Juvenile Nephropathic Cystinosis |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... |
ORPHA:411634 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Dehydr... |
ORPHA:275761 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Central Diabetes Insipidus |
|
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolem... |
ORPHA:31824 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... |
OMIM:143880 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le... |
ORPHA:89938 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:300971 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa... |
ORPHA:168558 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium... |
OMIM:613090 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Sple... |
ORPHA:90041 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperactive renin-angioten... |
OMIM:214700 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Edema, Chronic kidney di... |
ORPHA:97362 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo... |
OMIM:613845 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr... |
OMIM:601678 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... |
OMIM:602522 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo... |
ORPHA:90794 |
Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism |
OMIM:617027 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Neonatal... |
ORPHA:1667 |
Liddle Syndrome 1 |
|
Renal insufficiency, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating ... |
OMIM:177200 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia |
ORPHA:28 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Nephrolithiasis, Intracranial hemorrh... |
ORPHA:369929 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Intracranial hemo... |
ORPHA:449285 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... |
ORPHA:47159 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... |
OMIM:241200 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... |
ORPHA:79159 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... |
OMIM:612780 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failur... |
OMIM:602722 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Hereditary Coproporphyria |
|
Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79273 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Hypovolemia, Abnormal renal physiology, Dehydration |
ORPHA:2290 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Dehydratio... |
ORPHA:213 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur... |
ORPHA:289504 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Cardiomyopathy,... |
ORPHA:79312 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... |
ORPHA:35710 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... |
OMIM:263800 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperal... |
OMIM:615474 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Deh... |
ORPHA:94093 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hypokalemia, Adren... |
ORPHA:231632 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... |
OMIM:268200 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... |
ORPHA:199299 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia |
OMIM:616949 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... |
ORPHA:79473 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al... |
OMIM:218030 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Dehydration, Leukopenia, Hypoalbuminemia, Abn... |
ORPHA:99826 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Methylmalonic aciduria, Dehydration |
OMIM:614265 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia... |
ORPHA:27 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I... |
OMIM:267700 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Elevated circ... |
OMIM:618183 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Abnormal erythrocyte enzyme ... |
ORPHA:100924 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... |
OMIM:251000 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,... |
OMIM:606054 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Arrhyt... |
ORPHA:57 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:95512 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated circulating a... |
OMIM:212140 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Hypernatremia, Fail... |
OMIM:125800 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent... |
ORPHA:69076 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Small for gestational age, Edema, Thrombocytopenia, ... |
ORPHA:79325 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:95513 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... |
OMIM:617053 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Elevated hepatic transaminase, Generalized edema, Hypertriglyceridemia, Pancytopeni... |
OMIM:603553 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy... |
ORPHA:173 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphe... |
ORPHA:64739 |
Cystinosis, Nephropathic |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... |
OMIM:219800 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... |
ORPHA:549 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis,... |
ORPHA:810 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:620366 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:91355 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... |
ORPHA:100083 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... |
OMIM:251110 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration |
OMIM:601410 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo... |
ORPHA:33355 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... |
OMIM:201810 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Hypothyroidism, Hashimoto thyr... |
ORPHA:83601 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Edema, Leukocytosis, Bradycardia, Hypotension, Ne... |
ORPHA:391673 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... |
OMIM:251100 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... |
ORPHA:90790 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... |
OMIM:619377 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Cachexia, Myocardial infarction, Splenom... |
ORPHA:3452 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric aciduria,... |
OMIM:557000 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Abnormal circulating enzyme concentration or activ... |
ORPHA:79276 |
Leprechaunism |
|
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu... |
ORPHA:534 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Hyperinsulinemia, Elevate... |
ORPHA:230 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Hypertension, Internal h... |
ORPHA:69077 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... |
ORPHA:18 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Anuria, Diabetes mellitus, Edema, Myocarditi... |
ORPHA:544482 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
Vipoma |
|
Dehydration, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Hypokalemia, Incr... |
ORPHA:97282 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia |
OMIM:243500 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... |
OMIM:617913 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Decreased liver function, Dehydration |
OMIM:602199 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive, Retinal telangiectasia |
OMIM:620157 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia |
OMIM:608688 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hyperammonemia, Dehydration, Fai... |
OMIM:615453 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Acute pancreatitis, Ketonuria, Cardiac arrest, Edema, Leukocytosis... |
ORPHA:20 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia... |
ORPHA:167 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79324 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Central hypothyroidism, Wei... |
ORPHA:95427 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Reduced circula... |
ORPHA:90363 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... |
ORPHA:79102 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Leukocytosis, Hyperammonemia, Weight loss, Dehydration, Hypertension, Hyperuric... |
ORPHA:134 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hypoalbuminemia, Micropenis, Hypothyroidism, Hemolytic anemia, Portal hypertension, Perica... |
OMIM:619487 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Hyponatremia, Portal hypertension, Oliguria, Hepatosple... |
ORPHA:731 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension |
ORPHA:178478 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria, Jaundice, Weight loss |
ORPHA:79238 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia |
ORPHA:100024 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:618528 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Hyperh... |
ORPHA:79282 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial... |
OMIM:259900 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrenal p... |
ORPHA:29072 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ... |
ORPHA:85443 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventric... |
ORPHA:423 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Failure to thrive, Dehydration |
OMIM:618958 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614495 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys... |
ORPHA:85447 |
Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Eleva... |
OMIM:619991 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614496 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus |
OMIM:618252 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Weight loss, Central hypothy... |
ORPHA:514 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity, Retinal telangiectasia |
OMIM:620155 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Portal hypertension, Dehydration |
ORPHA:83620 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... |
ORPHA:1672 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pulmonary edema, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Pedal ed... |
ORPHA:188 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Pedal edema, Large vess... |
ORPHA:49041 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... |
ORPHA:3008 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Dehydration, Aplasia/Hyp... |
ORPHA:79404 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ... |
ORPHA:2070 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transaminase, Dicarboxylic aciduria, Ele... |
ORPHA:42 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... |
OMIM:615962 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, Failure to thrive, Reduced circulating growth ... |
OMIM:615508 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney |
ORPHA:634 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau... |
ORPHA:160 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Dehydration |
OMIM:214150 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkal... |
OMIM:608885 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Lamellar Ichthyosis |
|
Renal insufficiency, Dehydration |
ORPHA:313 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, ... |
ORPHA:2162 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Cardiac ... |
ORPHA:139402 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Congestive heart failure, Dehydration, Leukopenia, 3-Methylglutaconic aciduria, N... |
OMIM:616271 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... |
ORPHA:100078 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... |
ORPHA:100085 |
Leishmaniasis |
|
Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight... |
ORPHA:507 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transf... |
ORPHA:139507 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Hepatitis, Dehydration, Neutropenia |
ORPHA:33110 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Inappropriate antidiuretic hormone secretion, Cerebral edema, Pulmona... |
ORPHA:79139 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:97283 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Edema, Pericardial effusion, Weight loss, Reduced proportion of CD4+ effector memory... |
ORPHA:90362 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,... |
ORPHA:35858 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Pituitary adenoma, Obesity, Nephrolithiasis, Increased circulating ACTH level, Hypertensio... |
OMIM:219090 |
Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia |
ORPHA:411593 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Pancytopenia, Elevated circula... |
ORPHA:562 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent... |
OMIM:610505 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Edema, Congenital hypoplastic anemi... |
ORPHA:77297 |
Microsporidiosis |
|
Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Myocarditi... |
ORPHA:2552 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... |
OMIM:209950 |
Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... |
OMIM:617671 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Abnormality of the kidney, Elevated circulating C-re... |
ORPHA:54251 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Hypoalbum... |
ORPHA:37042 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyr... |
ORPHA:143 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
Polymyositis |
|
Gastrointestinal hemorrhage, Abnormal renal tubule morphology, Pericarditis, Elevated circulating... |
ORPHA:732 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Hypotriglyceridemia... |
ORPHA:2298 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Steatorrhea |
OMIM:615237 |
Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:97280 |
Ppoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab... |
ORPHA:97278 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Organic aciduria, Hyperammonemia, Weight loss |
ORPHA:79242 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Wolman Disease |
|
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Adrenal insuf... |
ORPHA:75233 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Weight loss, Elevated circ... |
ORPHA:67 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoal... |
ORPHA:2494 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Caroli Disease |
|
Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating alpha-feto... |
ORPHA:53035 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Eosinophilia, Jaundice, Renal cyst, Weight loss, Membranous nephro... |
ORPHA:400 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne... |
ORPHA:97261 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Weight loss |
ORPHA:2198 |
Yao Syndrome |
|
Pericarditis, Xerostomia, Nephrolithiasis, Weight loss |
OMIM:617321 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatosis, Abnorma... |
ORPHA:900 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hepatitis, Weight loss, Hypocalcemia, Neutropenia, Failure to thrive, Anemia |
ORPHA:47 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia... |
ORPHA:681 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... |
ORPHA:3208 |
Solitary Fibrous Tumor |
|
Reduced C-peptide level, Weight loss, Urinary retention, Hypophosphatemic rickets, Hypoinsulinemia |
ORPHA:2126 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Preco... |
ORPHA:370348 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Congenital Tufting Enteropathy |
|
Steatorrhea, Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Ascites, Hypertension,... |
OMIM:610965 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Hematemesis, C... |
ORPHA:100075 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... |
ORPHA:449400 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma, Weight loss |
ORPHA:654 |
Wilson Disease |
|
Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Jaundice, I... |
ORPHA:905 |
Takayasu Arteritis |
|
Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hyperhidrosis, Hypertension,... |
ORPHA:3287 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Hyperhidrosis, Promine... |
ORPHA:466677 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Increased circulating ferritin conce... |
OMIM:615846 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Thyroiditis, Steatorrhea, Weight loss, Iron def... |
OMIM:212750 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Polyhydramnios, Proteinuria, Cachexia |
ORPHA:2774 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Weight loss... |
ORPHA:520 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl... |
ORPHA:1979 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, M... |
ORPHA:100080 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Dehydration |
ORPHA:457 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Edema, Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Anemia |
ORPHA:324964 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophil... |
ORPHA:183 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ... |
OMIM:619573 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Elevat... |
ORPHA:171 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... |
ORPHA:36426 |
Rheumatoid Arthritis |
|
Joint swelling, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Osteosarcoma |
|
Abnormal lactate dehydrogenase level, Weight loss, Joint swelling, Elevated circulating alkaline ... |
ORPHA:668 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure, Weight los... |
ORPHA:35687 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hyperhidrosis, Splenomegaly, Weight loss |
ORPHA:86893 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, H... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, H... |
ORPHA:100082 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Aredyld Syndrome |
|
Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes mel... |
ORPHA:1133 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Hema... |
ORPHA:397 |
Follicular Lymphoma |
|
Lymphedema, Splenomegaly, Pleural effusion, Weight loss |
ORPHA:545 |
Alveolar Echinococcosis |
|
Eosinophilia, Portal hypertension, Jaundice, Pedal edema, Renal cyst, Weight loss, Abnormal splee... |
ORPHA:284 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... |
ORPHA:99867 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Weight loss |
ORPHA:317 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Weight lo... |
ORPHA:2902 |
Poems Syndrome |
|
Diabetes mellitus, Polycythemia, Edema, Abnormality of the endocrine system, Pericardial effusion... |
ORPHA:2905 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Pleural Mesothelioma |
|
Pleural effusion, Abnormal cardiovascular system physiology, Weight loss |
ORPHA:50251 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... |
ORPHA:537 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, I... |
ORPHA:3226 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Cerebral vasculitis, Membranoprolife... |
ORPHA:48435 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Palpebral edema, Elev... |
ORPHA:93672 |
Hartsfield Syndrome |
|
Hypospadias, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus |
OMIM:615465 |
Renpenning Syndrome |
|
Diabetes mellitus, Hypospadias, Cachexia |
ORPHA:3242 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitia... |
ORPHA:797 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Hyperhidrosis, Weight loss |
ORPHA:99868 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Cystic Fibrosis |
|
Hypercalciuria, Dehydration, Hepatosplenomegaly, Steatorrhea, Failure to thrive, Pancreatitis, Ex... |
OMIM:219700 |
Q Fever |
|
Elevated hepatic transaminase, Pericarditis, Pericardial effusion, Thrombocytopenia, Splenomegaly... |
ORPHA:781 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydrogenase concentra... |
ORPHA:824 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Dehydration, Hyperhidrosis, Cardiomyopathy, Abnormal T-wave, Arrh... |
ORPHA:2131 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I... |
ORPHA:60025 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... |
ORPHA:769 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia |
ORPHA:157973 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema |
ORPHA:3165 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Riboflavin Transporter Deficiency |
|
Cachexia, Hypertension, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
Brucellosis |
|
Pericarditis, Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive prot... |
ORPHA:1304 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Gastrointestinal hemorrhage, Portal hyperte... |
ORPHA:131 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia |
OMIM:174900 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Felty Syndrome |
|
Recurrent urinary tract infections, Pericarditis, Thrombocytopenia, Splenomegaly, Weight loss, Ne... |
ORPHA:47612 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Urinary retention, Weight loss |
OMIM:600072 |
Flynn-Aird Syndrome |
|
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia |
ORPHA:2047 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Pancreatitis, Weight loss |
ORPHA:65682 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... |
ORPHA:747 |
Pyomyositis |
|
Leukocytosis, Renal insufficiency, Sudden cardiac death, Weight loss |
ORPHA:764 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Failure to thrive, Hypereosinophilia |
OMIM:256500 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Ascites, Cachexia, Weight loss |
ORPHA:83469 |
Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Kaposi Sarcoma |
|
Lymphedema, Abnormality of the spleen, Weight loss |
ORPHA:33276 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Cronkhite-Canada Syndrome |
|
Anemia, Splenomegaly, Cachexia, Lymphedema |
ORPHA:2930 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Pituita... |
ORPHA:440437 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Hyperhidrosis, ... |
ORPHA:813 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Palpebral edema, Elevated circulating C-reactive protein concentra... |
ORPHA:50918 |
Gm1 Gangliosidosis |
|
Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Cardiom... |
ORPHA:354 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:42642 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Classic Hodgkin Lymphoma |
|
Hyperhidrosis, Splenomegaly, Weight loss |
ORPHA:391 |
Pneumocystosis |
|
Abnormal neutrophil count, Pleural effusion, Increased circulating lactate dehydrogenase concentr... |
ORPHA:723 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... |
ORPHA:71493 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch... |
ORPHA:679 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Polyhydramnios, Cachexia |
OMIM:618186 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
Behçet Disease |
|
Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi... |
ORPHA:117 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Dehydration, Oligohydramnios |
ORPHA:96191 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Intraventricul... |
ORPHA:420741 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... |
ORPHA:84 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Weight loss, Cardiomyopathy, Neutrop... |
ORPHA:79430 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Weight loss, Elevated gamma-glutamyltransferase level, Elevated alkaline p... |
ORPHA:100086 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone exce... |
ORPHA:100079 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, Hypogonadism |
ORPHA:85293 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Cachexia |
ORPHA:60033 |
Schwartz-Jampel Syndrome |
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Elevated circulating creatine kinase concentration, Cachexia, Polyhydramnios, Abnormality of the ... |
ORPHA:800 |
19Q13.11 Microdeletion Syndrome |
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Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Juvenile Polyposis Of Infancy |
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Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Hematochezia, Melena, Intestinal bleedi... |
ORPHA:79076 |
Cap Polyposis |
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Hematochezia, Weight loss |
ORPHA:160148 |
Chronic Beryllium Disease |
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Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Cockayne Syndrome |
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Elevated hepatic transaminase, Anhidrosis, Neurogenic bladder, Renal insufficiency, Proteinuria, ... |
ORPHA:191 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Weight loss |
OMIM:266600 |
African Trypanosomiasis |
|
Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the endocri... |
ORPHA:3385 |
Pancreatoblastoma |
|
Jaundice, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph... |
OMIM:301074 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Hereditary Late-Onset Parkinson Disease |
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Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfunction, Weight loss |
ORPHA:411602 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Pelizaeus-Merzbacher Disease |
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Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Tetrasomy 12P |
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Cachexia, Hypohidrosis |
ORPHA:884 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Camurati-Engelmann Disease |
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Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Urinary retention, Delayed puberty, Hypertrophi... |
ORPHA:1328 |
Juvenile Amyotrophic Lateral Sclerosis |
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Urinary incontinence, Cachexia |
ORPHA:300605 |
Short Syndrome |
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Diabetes mellitus, Weight loss |
ORPHA:3163 |
Familial Pancreatic Carcinoma |
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Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Hepatosplenomegaly, Weight loss, Exoc... |
ORPHA:1333 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Edema, Weight loss |
ORPHA:33577 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Familial Gestational Hyperthyroidism |
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Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss, Tubulointerstitial nephritis... |
ORPHA:79078 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Lymphedema, Telangiectasia, Intracrani... |
ORPHA:109 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:164310 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Abnormal circulating enzyme concentration or activity, Failure t... |
ORPHA:206436 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... |
OMIM:614162 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Weight loss |
ORPHA:221098 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Pericardial effusion, Splenomegaly, Hypercalciuria, Weight loss, Pulmonary arterial... |
OMIM:181000 |
Tropical Pancreatitis |
|
Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, Jaundice, Weight loss, Chron... |
ORPHA:103918 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Chronic Graft Versus Host Disease |
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Elevated hepatic transaminase, Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, ... |
ORPHA:99921 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Neoplasm of the thyroid gland, Weight loss |
ORPHA:144 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Hepatosplenomegal... |
ORPHA:576 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Paraganglioma, Weight loss |
ORPHA:97286 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Trisomy 18 |
|
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract, Oligohydramnios |
ORPHA:3380 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss, Iron deficiency anemia, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... |
OMIM:608710 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval, Cachexia |
OMIM:312750 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Weight loss, Joint swelling |
ORPHA:29207 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Hyperhidrosis, Anemia, Weight loss |
ORPHA:52417 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Pollakisuria, Thrombocyt... |
ORPHA:647 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
ORPHA:2388 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector... |
ORPHA:740 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Rat-Bite Fever |
|
Pericarditis, Myocarditis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Joint swelling, Anemia, Weight loss |
ORPHA:85408 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Klatskin Tumor |
|
Jaundice, Weight loss |
ORPHA:99978 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Nocardiosis |
|
Pericarditis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Pleural effusion |
ORPHA:31204 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Lymphedema, Neoplasm of the thymus, Splenomegaly, Sudden cardiac de... |
ORPHA:744 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Polyhydramnios, Weight loss |
ORPHA:2020 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Cachexia |
ORPHA:1969 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper... |
ORPHA:286 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Marfan Syndrome |
|
Congestive heart failure, Slender build, Cachexia |
ORPHA:558 |
Stickler Syndrome |
|
Arrhythmia, Slender build, Cachexia |
ORPHA:828 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Delayed puberty |
ORPHA:649 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |