Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... |
OMIM:616026 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p... |
ORPHA:157215 |
Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab... |
OMIM:241530 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... |
OMIM:613388 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Muscle weakness |
ORPHA:89937 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Primary hyperparathy... |
OMIM:239200 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Generalized muscle weakness, Rickets, Renal phosphate wasting, Hypophosphatemia, Hy... |
OMIM:193100 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... |
OMIM:614732 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity |
OMIM:603233 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Proximal muscle weakness, Fibrous dysplasia of the bones, Increased susceptibi... |
ORPHA:352540 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... |
ORPHA:320 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms,... |
ORPHA:213 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Low-molecular-weight proteinuria, Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed... |
OMIM:300554 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo... |
ORPHA:18 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Renal phosphate wasting,... |
ORPHA:562 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Ano... |
OMIM:241500 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria |
OMIM:145980 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Proximal muscle we... |
OMIM:615883 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... |
OMIM:600740 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... |
OMIM:605899 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss |
ORPHA:69077 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabete... |
ORPHA:178029 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice... |
ORPHA:411634 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Ge... |
OMIM:264700 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:611590 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Renal ... |
ORPHA:85138 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre... |
OMIM:610600 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet... |
ORPHA:97289 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Premat... |
ORPHA:199299 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... |
ORPHA:289157 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Anorexia, Renal salt wasting, Decreased... |
ORPHA:95409 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Parathyroid Carcinoma |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, Testicular neoplasm, Primary... |
ORPHA:143 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Recurrent fractures, Precocious puberty, Ophthalmoplegia, Horsesho... |
OMIM:163200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir... |
OMIM:241200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Agitati... |
ORPHA:276580 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephroblastoma, Testicular neoplasm, Primary... |
ORPHA:99880 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... |
OMIM:277900 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circ... |
ORPHA:35706 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94090 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre... |
OMIM:613677 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Renal phosphat... |
OMIM:307800 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity, Failure to thrive, Uraciluria |
OMIM:274270 |
Vitamin D-Dependent Rickets, Type 2A |
|
Abdominal wall muscle weakness, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sp... |
OMIM:277440 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Depression, Reduced bone mineral density, Fatigable weakness, Nephrocalcinosis, H... |
ORPHA:428 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Renal agenesis, Cryptorchidism, Elbow flexion contractu... |
OMIM:618440 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Nephrolithiasis, H... |
ORPHA:93160 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Large for ges... |
ORPHA:324575 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Lower-limb joint contracture, Distal muscle weakness, Muscle weakness |
OMIM:613710 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Anorexia |
ORPHA:79283 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Arthritis, Azoosperm... |
OMIM:602390 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, Increased level of methy... |
ORPHA:26792 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid level, Type I ... |
ORPHA:276575 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... |
ORPHA:251004 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Elevated circulating creati... |
OMIM:619743 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... |
OMIM:612462 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity |
OMIM:615633 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyperammonemia, 3-... |
OMIM:618120 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Recurrent myoglobinuria... |
ORPHA:99845 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Generalized muscle weakness, Noc... |
OMIM:263800 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron... |
ORPHA:199343 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... |
OMIM:208085 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Hypophosphatasia |
|
Hypercalcemia, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Failure to thrive |
OMIM:264350 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:203400 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Diffuse pancre... |
ORPHA:276556 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth ... |
OMIM:606407 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Increased circulating ferritin... |
ORPHA:465508 |
N-Acetylglutamate Synthase Deficiency |
|
Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure to thrive |
OMIM:237310 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Generalized muscle weakness, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyper... |
ORPHA:276608 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density |
ORPHA:2611 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased ... |
OMIM:612780 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy, Decreased circ... |
OMIM:618573 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... |
ORPHA:263455 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556037 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, ... |
OMIM:103580 |
Severe Canavan Disease |
|
Lethargy, Poor head control, Oral-pharyngeal dysphagia, Joint stiffness |
ORPHA:314911 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Failure to ... |
OMIM:614736 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Hypercalcemia, Precocious... |
ORPHA:249 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:236270 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac... |
OMIM:222748 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Dysphagia, Lethargy, Failure to thrive, Muscle ... |
OMIM:613561 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L... |
OMIM:605711 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsi... |
ORPHA:534 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur... |
OMIM:615398 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Failure to thrive |
ORPHA:500533 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Depressio... |
ORPHA:36913 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556030 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Nephropathy, Generalized muscle weakness, Elevated circulating creatin... |
ORPHA:29073 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... |
ORPHA:31824 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Slender build |
OMIM:611087 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... |
OMIM:617913 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro... |
ORPHA:97362 |
Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Proximal muscle weakne... |
OMIM:212140 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia... |
ORPHA:653 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency, Progressive external ophthalmoplegia |
ORPHA:254857 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... |
ORPHA:94089 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syn... |
OMIM:557000 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
Isolated Atp Synthase Deficiency |
|
Ophthalmoplegia, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Mus... |
ORPHA:254913 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Hyperammonemia, Lethargy, Failure to thrive |
ORPHA:79312 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Lethargy, Micropenis, Premature adrenarche, Hypothalamic luteinizing hormone-releasin... |
ORPHA:398079 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia |
ORPHA:1935 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... |
ORPHA:97282 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Macroorchidis... |
ORPHA:90674 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence, Aggressive behavior, Compulsive behaviors, Attention deficit... |
ORPHA:476126 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Primar... |
OMIM:603896 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Holocarboxylase Synthetase Deficiency |
|
Anorexia, Hyperammonemia, Weight loss, Organic aciduria, Lethargy |
ORPHA:79242 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Poor head control, Failure to thrive, Elbow contracture |
OMIM:611523 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti... |
ORPHA:99832 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Ophthalmoplegia |
OMIM:618683 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Hyperammonemia, Hypergl... |
OMIM:606054 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... |
OMIM:614857 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age |
OMIM:610498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Wide anterior fontanel, Hyperprolinemia, Hyperalaninemia, Lethargy |
OMIM:619064 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Failure to t... |
ORPHA:927 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, In... |
ORPHA:90041 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy, Ophthalmoplegia |
OMIM:618225 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, External ophthalmoplegia, Abnormal circulating ... |
OMIM:615838 |
Cyclic Vomiting Syndrome |
|
Lethargy, Attention deficit hyperactivity disorder, Muscle weakness, Anorexia |
OMIM:500007 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Prem... |
ORPHA:90791 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Increased body weight, Compulsive behaviors, Lethargy, Micropeni... |
ORPHA:398069 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Ophthalmoplegia, Failure to thrive, Dysphagia |
OMIM:618226 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria |
OMIM:238970 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Primary amenorrhea, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... |
OMIM:241410 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... |
OMIM:210200 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy |
OMIM:312170 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Small for gestational age, Decreased ... |
ORPHA:699 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Lethargy, Hypothy... |
ORPHA:254892 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium |
OMIM:611489 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... |
OMIM:201475 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Hypercalcemia, Obesity |
ORPHA:96168 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... |
OMIM:127000 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia |
ORPHA:2238 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy |
OMIM:246900 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Congenital hypopar... |
ORPHA:93324 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... |
ORPHA:168558 |
Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Lethargy, Renal insufficiency, Hyperammonemia |
ORPHA:289916 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Ab... |
ORPHA:97280 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Ab... |
ORPHA:97283 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Osteoporosis, Hyperhomocystinemia, ... |
ORPHA:2169 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Failure to thrive |
OMIM:250620 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Abnormality of the th... |
ORPHA:97278 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Progressive distal muscle weakness, Generalized... |
ORPHA:746 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... |
ORPHA:53 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dysphagia, Hyperphenylalaninemia |
OMIM:233910 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosynostosis, Ophthalmoparesis, ... |
OMIM:259700 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal stippli... |
OMIM:101800 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive... |
OMIM:237300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Anorexia, Neoplasm of the thymu... |
ORPHA:97261 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Delayed proximal femoral e... |
ORPHA:90673 |
Leprechaunism |
|
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Lethar... |
OMIM:212138 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Thyroiditis, Depression, Weight loss, Hypocalcemia, Infertility, Steatorrh... |
OMIM:212750 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Lethargy, Transient hyperlipidemia |
ORPHA:156 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub... |
ORPHA:904 |
Meningococcal Meningitis |
|
Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia,... |
ORPHA:33475 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diabetes mellitus, Anorexia |
ORPHA:49827 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinem... |
OMIM:210210 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Increased urinary gly... |
OMIM:307030 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:247525 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Neon... |
OMIM:259775 |
Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Failure to thrive, Small for gestational age, Steatorrhea |
OMIM:260400 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Muscle weakness |
OMIM:175500 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Poor head control, Hyperglycinemia, Muscle weakness |
OMIM:614299 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Micropenis, Medullary nephrocalcinosis, Hypospadias |
ORPHA:363528 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Maple Syrup Urine Disease |
|
Lethargy, Increased level of hippuric acid in urine, Elevated circulating branched chain amino ac... |
OMIM:248600 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Hypogonadism, Lethargy, Decreased serum testosterone concentration, Failure... |
OMIM:201100 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Hyperammonemia |
ORPHA:27 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Letha... |
OMIM:251110 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... |
OMIM:194050 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Hype... |
OMIM:277380 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia... |
ORPHA:2323 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Failure to thrive in infancy, Nephrocalcinosis, Hypophosphatemic rickets, Medu... |
ORPHA:51608 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Failure to thrive |
OMIM:618005 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypospadias, Cryptorchidism, Hypocalcemia, Lethargy, Micropenis, Failu... |
OMIM:607143 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Abnormal ovarian physiology, Premature ... |
ORPHA:90794 |
Citrullinemia, Classic |
|
Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma... |
OMIM:215700 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Poor head control, Diabetes mellitus, Proximal tubulopathy, Lethargy, F... |
ORPHA:2609 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... |
OMIM:614922 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... |
ORPHA:423 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Susac Syndrome |
|
Lethargy, Apathy, Muscle weakness |
ORPHA:838 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Addictive alcohol use, ... |
ORPHA:36238 |
Sarcoidosis |
|
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Facial palsy, Proximal m... |
ORPHA:797 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
Osteogenesis Imperfecta |
|
Osteopenia, Small for gestational age, Recurrent fractures, Fractures of the long bones, Osteoart... |
ORPHA:666 |
Gracile Bone Dysplasia |
|
Micropenis, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... |
ORPHA:116 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:277410 |
Crigler-Najjar Syndrome |
|
Lethargy, Ophthalmoparesis |
ORPHA:205 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Oroticacidur... |
OMIM:311250 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... |
ORPHA:79284 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
External ophthalmoplegia, Flexion contracture, Ethylmalonic aciduria, Lethargy, Failure to thrive |
OMIM:201470 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to th... |
ORPHA:395 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Organic aciduria, Lethargy, 3-hyd... |
OMIM:253270 |
Kenny-Caffey Syndrome, Type 1 |
|
Decreased skull ossification, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvar... |
OMIM:244460 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abno... |
ORPHA:73223 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d... |
ORPHA:2237 |
Isovaleric Acidemia |
|
Lethargy, Hyperglycinuria |
OMIM:243500 |
Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Hypokalemia, Long penis, Increased C-peptide level |
ORPHA:769 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, ... |
OMIM:207900 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Hypothyroidism, Goiter |
OMIM:274400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Anorexia, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Apathy, Hyperuricemi... |
ORPHA:20 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Weight loss, Arthritis, Hypocalcemia, Failure to thrive |
ORPHA:47 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocal... |
ORPHA:93325 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Bone cyst, Hypercalciuria, Weight loss, Arthritis |
OMIM:181000 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis |
OMIM:240300 |
Multifocal Atrial Tachycardia |
|
Lethargy, Hypothyroidism, Cryptorchidism |
ORPHA:3282 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... |
ORPHA:667 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
Transcobalamin Ii Deficiency |
|
Lethargy, Methylmalonic aciduria, Failure to thrive, Muscle weakness |
OMIM:275350 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Hypospadias, Conjugated hyperbilirubinemia, Wide anterior fontanel, Cr... |
OMIM:614866 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Evans Syndrome |
|
Lethargy, Muscle weakness |
ORPHA:1959 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocr... |
ORPHA:37042 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Osteolytic defects of the middle phalanx of the 4th toe |
ORPHA:765 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Poor head control, Facial palsy, Cranial hyperostosis, Stillbirth... |
OMIM:259720 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
Cystic Fibrosis |
|
Male infertility, Failure to thrive, Hypercalciuria, Steatorrhea |
OMIM:219700 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy, Small for gestational age |
ORPHA:391673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy |
OMIM:604377 |
Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Lethargy |
OMIM:215600 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circu... |
OMIM:620306 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen... |
ORPHA:275761 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Facial palsy, Ophthalmoplegia, Hyperkalemia, Renal tubular epithelial necros... |
ORPHA:31826 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Premature ovarian insufficiency, Sma... |
ORPHA:221008 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Dengue Fever |
|
Lethargy, Hypoproteinemia |
ORPHA:99828 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
External ophthalmoplegia, Lethargy, Facial palsy, Dysphagia |
OMIM:607483 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... |
ORPHA:79282 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Poor head control, Hypospadias, Lacticaciduria, Lethargy, Hyperal... |
OMIM:252010 |
Biotinidase Deficiency |
|
Lethargy, Limb muscle weakness, Organic aciduria, Hyperammonemia |
ORPHA:79241 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Joint laxity, H... |
ORPHA:821 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Elevated circulating crea... |
ORPHA:36234 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Lethargy, Stiff neck, Urinary incontinence |
ORPHA:83600 |
Biotinidase Deficiency |
|
Lethargy, Organic aciduria, Hyperammonemia |
OMIM:253260 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Small for gestational age, Increased... |
ORPHA:2909 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... |
ORPHA:2044 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abnormal circulat... |
ORPHA:415 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia |
OMIM:235255 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol |
OMIM:229700 |
Typhoid |
|
Lethargy |
ORPHA:99745 |
Scrub Typhus |
|
Lethargy, Renal insufficiency |
ORPHA:83317 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
ORPHA:1655 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Recurrent urinary tract infections, Small for gestational age, Rickets,... |
OMIM:613658 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Elevated circulating creatine kinase concentration, Proximal renal tubular a... |
ORPHA:2785 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Trichinellosis |
|
Facial palsy, Ophthalmoplegia, Apathy, Dysphagia, Lethargy, Muscle weakness |
ORPHA:863 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Ogden Syndrome |
|
Lethargy, Cryptorchidism |
ORPHA:276432 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Ophthalmoplegia, Aggressive behavior |
OMIM:618321 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Joint hyperflexibility, Mucopolysacchariduria, Hypocalcemia, Abnor... |
ORPHA:175 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
ORPHA:99826 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Cryptorch... |
ORPHA:221016 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Nephrocalcinosis, Micropenis, Decreased body weight |
OMIM:617402 |
Arthrogryposis Multiplex Congenita 5 |
|
Medullary nephrocalcinosis |
OMIM:618947 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteopo... |
OMIM:218330 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Stiff neck, Facial palsy, Intrarenal abscess, Abnormality of the adrenal glands, Oc... |
ORPHA:68 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Bipolar affective disorder, Hyperthyroidism, Hypospadias, Cryptorchidism, Obe... |
ORPHA:567 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... |
OMIM:619534 |
Kufor-Rakeb Syndrome |
|
Urinary incontinence, Generalized muscle weakness, Bradykinesia, Apathy, Dysphagia, Lethargy |
ORPHA:306674 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Lethargy, Tongue thrusting |
OMIM:608643 |
Ebola Hemorrhagic Fever |
|
Lethargy, Dysphagia |
ORPHA:319218 |
Craniofacioskeletal Syndrome |
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Hypocalcemia, Hypospadias, Hydronephrosis |
OMIM:300712 |
Arima Syndrome |
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Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Liver Disease, Severe Congenital |
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Joint laxity, Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating... |
OMIM:619991 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Velocardiofacial Syndrome |
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Hypoparathyroidism, Cryptorchidism, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Lethargy, Failure to thrive |
OMIM:620233 |
Medulloblastoma |
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Total ophthalmoplegia, Lethargy |
ORPHA:616 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Bipolar affective disorder, Parathyroid agenesis, Decreased... |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... |
OMIM:619503 |
Hennekam Syndrome |
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Hypocalcemia, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior... |
OMIM:620330 |
Complete Atrioventricular Septal Defect |
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Lethargy, Failure to thrive |
ORPHA:1329 |
Histiocytoid Cardiomyopathy |
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Lethargy, Failure to thrive, Renal cyst |
ORPHA:137675 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hypocalcemic tetany, Recurrent urinary tract infections, Failure to thrive |
ORPHA:83471 |
Eisenmenger Syndrome |
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Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperuricemia, Abnorm... |
ORPHA:97214 |
Glycine Encephalopathy |
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Lethargy, Hyperglycinemia |
ORPHA:407 |
Diamond-Blackfan Anemia |
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Renal agenesis, Small for gestational age, Hypospadias, Horseshoe kidney, Lethargy |
ORPHA:124 |
Isotretinoin-Like Syndrome |
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Hypocalcemia |
ORPHA:2306 |
Hydranencephaly |
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Lethargy, Stiff neck, Atrophic pituitary gland |
ORPHA:2177 |
Charge Syndrome |
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Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Johanson-Blizzard Syndrome |
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Joint laxity, Diabetes mellitus, Small for gestational age, Hypospadias, Increased VLDL cholester... |
OMIM:243800 |
Pineoblastoma |
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Lethargy |
ORPHA:251909 |