Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Hy... |
ORPHA:99879 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia |
OMIM:612286 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis |
OMIM:239199 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Large for gestational age, Proteinuria, Hyperphospha... |
OMIM:616026 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop... |
ORPHA:157215 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... |
OMIM:143880 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:602722 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:613312 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... |
OMIM:613388 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Generali... |
OMIM:227810 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciu... |
ORPHA:2088 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia |
OMIM:146200 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Muscle weakness, Hyperphosphaturia, Rickets |
ORPHA:89937 |
Hyperparathyroidism, Neonatal Severe |
|
Recurrent fractures, Polydipsia, Hypophosphatemia, Failure to thrive, Aminoaciduria, Elevated cir... |
OMIM:239200 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Generalized mu... |
OMIM:193100 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... |
OMIM:134600 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, R... |
OMIM:241530 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
Hypophosphatemic Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalciuria, Enthesitis, Renal phosphate wastin... |
ORPHA:437 |
Hypervitaminosis A, Susceptibility To |
|
Renal insufficiency, Hypercalcemia |
OMIM:240150 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... |
OMIM:300554 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Craniosynostosis, Hypospadias,... |
OMIM:614732 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... |
ORPHA:35710 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Fibrous dysplasia of the bones, Patholog... |
ORPHA:352540 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Decreased glomerular filtration rate, Hypermagnesiuria, Proximal tubulopathy, Renal p... |
ORPHA:18 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... |
ORPHA:213 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Male infertility, Hy... |
ORPHA:2239 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... |
OMIM:248190 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:260000 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis |
OMIM:156400 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Hypokalemia, Abnormality of circulating cortisol level, Abnormal urine sodium ... |
ORPHA:320 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Impotence, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Flexion contracture, Elevated circulating creatine kinase concentration, Foot dorsi... |
OMIM:615883 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Increased circulating prolactin concentration, Primary hypercortis... |
ORPHA:562 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica... |
ORPHA:3337 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... |
ORPHA:93598 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat... |
OMIM:241500 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria |
ORPHA:2197 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... |
OMIM:145981 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glyco... |
ORPHA:411629 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis |
OMIM:611590 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... |
ORPHA:405 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Rhabdoid Tumor |
|
Weight loss, Hypercalcemia, Hematuria, Renal neoplasm |
ORPHA:69077 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Glob... |
ORPHA:47159 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... |
ORPHA:276580 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Recurrent fractures, Failure to thrive, Increased bone mineral density, Hydrox... |
OMIM:239000 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Hypophosphatemia, Hypokalemia... |
ORPHA:411634 |
Cystinosis, Nephropathic |
|
Polydipsia, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage ... |
OMIM:219800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Recurrent fractures, Delayed epiphyseal ossification, Hypophosphat... |
OMIM:264700 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Chronic kidney disease, Impaired renal concentrating ability, Hypokalemia... |
ORPHA:89938 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... |
OMIM:610600 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Fatigable weakness of swallowing mus... |
ORPHA:436271 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Coma, Small for gestational age, Increased urinary glycerol, Osteoporosis,... |
OMIM:307030 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Failure to thrive, Flexion contracture, Progressive external ophthalmoplegia, External ophthalmop... |
OMIM:201470 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosp... |
ORPHA:289157 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Loss of consciousness, Small for gestational age... |
ORPHA:324575 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... |
ORPHA:94080 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Nephrolithiasis, Polydipsia, Hypophosphatemia, Thyroid... |
ORPHA:143 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Loss of consciousness, Excessive insulin respons... |
ORPHA:276575 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated hyp... |
OMIM:613404 |
Wilson Disease |
|
Glycosuria, Limb muscle weakness, Proteinuria, Hypouricemia, Hypoparathyroidism, Renal tubular dy... |
OMIM:277900 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia, Hypercalciuria, Adrenal hyperplasia, Abnormal circulating renin, Muscle ... |
ORPHA:251274 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Excessive daytime somnolence, Weight loss,... |
ORPHA:178029 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Osteopenia, Horseshoe kidney, ... |
OMIM:163200 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... |
OMIM:307800 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Rickets of the lower limbs, Hypophosphatemic rickets, Abnormality of ren... |
ORPHA:289176 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Polydipsia, Renal juxtaglomerular c... |
OMIM:241200 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormality of the parathyroid morphology, Nephrolithiasis, Polydipsia, Hypophosphatemia, Thyroid... |
ORPHA:99880 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria... |
OMIM:229600 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Loss of consciousness, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test... |
ORPHA:276556 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating ren... |
OMIM:613677 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Recurrent fractures, Delayed epiphyseal ossification, Hypophosphat... |
OMIM:277440 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Osteomalacia, Ab... |
ORPHA:93160 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem... |
ORPHA:284426 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... |
OMIM:220110 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... |
OMIM:211900 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H... |
OMIM:618440 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Amenorrhea, Infertility, Hypogonadotropic hypogonad... |
OMIM:602390 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Coma, Hyperammonemia, Hyperlysinuria, Lethargy, Dibasicaminoaciduria |
OMIM:238750 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Fatigable weakness, Hypercalciuria, H... |
ORPHA:428 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Macroscopic hematuria, Memb... |
ORPHA:251004 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concen... |
OMIM:619386 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness of neck muscles, Coma, Hyperammonemia, Cachexia, Elevated circulating creatine... |
ORPHA:42 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine |
OMIM:171420 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedullary ... |
OMIM:208085 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Proximal muscle weakness, Stage 3 chr... |
OMIM:619743 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Impotence, Intestinal ... |
ORPHA:652 |
Galactosemia |
|
Failure to thrive, Reduced bone mineral density, Increased level of galactitol in plasma, Primary... |
ORPHA:352 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Nephrocalcinosis |
OMIM:615633 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp... |
OMIM:617994 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Renal potassium wasting, Po... |
OMIM:612780 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Polyuria... |
OMIM:263800 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, ... |
OMIM:618120 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
Glycine Encephalopathy |
|
Hyperglycinemia, Hyperglycinuria, Lethargy |
OMIM:605899 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e... |
ORPHA:276621 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Lower limb muscle weakness, Oliguria, Hyperpho... |
ORPHA:99845 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Coma, Hyperinsulinemic hypoglycemia, Drowsiness, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:557003 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving... |
ORPHA:199343 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Glutaric Acidemia Type 3 |
|
Failure to thrive, Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of ci... |
ORPHA:35706 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Uraciluria, Lethargy |
OMIM:274270 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Muscle weakness, Lethargy |
OMIM:613710 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Hypophosphatasia |
|
Recurrent fractures, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... |
OMIM:602522 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:203400 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Infertility, Decrea... |
ORPHA:465508 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Coma, Hyperammonemia, Renal insufficiency, Lethargy |
ORPHA:28 |
Citrullinemia Type Ii |
|
Fluctuations in consciousness, Acute hyperammonemia, Hyperlipidemia, Coma, Hypoproteinemia, Delay... |
ORPHA:247585 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... |
OMIM:612462 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... |
OMIM:606407 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556037 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Aminoaciduria, Joint hypermobility, Joint contracture of the hand, Proximal re... |
OMIM:309000 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Hypocalcemic tetany... |
OMIM:103580 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Coma, Hyperammonemia, Confusion, Increased level of L-glutamic acid in blood, ... |
OMIM:237310 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Lethargy |
OMIM:236270 |
Severe Canavan Disease |
|
Joint stiffness, Poor head control, Lethargy, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Insulinoma |
|
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyper... |
ORPHA:97279 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increa... |
ORPHA:94089 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves disease, Episodic hypokalem... |
ORPHA:79102 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Polyuria, Hyperechogenic kidneys, Prot... |
OMIM:613845 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Primary Hyperoxaluria |
|
Failure to thrive, Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalci... |
ORPHA:416 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia, W... |
ORPHA:398063 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Infantile Myofibromatosis |
|
Bone cyst, Abnormality of the kidney, Osteolysis, Hypercalcemia, Limitation of joint mobility |
ORPHA:2591 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Lethargy |
ORPHA:79283 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556030 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Proximal renal... |
ORPHA:427 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hypercalciuria, Osteoporosis, Large for gestational age, Renal cys... |
OMIM:615398 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... |
ORPHA:1031 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Nephrocalcinosis |
OMIM:611087 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Hypercalcem... |
ORPHA:29072 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the endocrine system, Hypophosphatemia, Thyroid carcinoma, Precocious puberty in f... |
ORPHA:249 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Failure to thrive, Nephrocalcinosis |
ORPHA:500533 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Coma, Hyperammonemia, Confusion, Decreased plasma carnitine, Muscle weakness, ... |
OMIM:212140 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Sclerosis of skull base, Fractures of the long bones, Osteolysis, Hypercalcemi... |
OMIM:602080 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... |
ORPHA:31824 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Lethargy, Progressive external ophthalmoplegia |
ORPHA:254857 |
Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Lethargy |
ORPHA:622 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Confusion, Calcium n... |
ORPHA:36913 |
Multiple Endocrine Neoplasia Type 2 |
|
Nephrolithiasis, Medullary thyroid carcinoma, Parathyroid adenoma, Elevated urinary catecholamine... |
ORPHA:653 |
Multiple Myeloma |
|
Nephrotic syndrome, Osteopenia, Hyperproteinemia, Nephropathy, Pathologic fracture, Elevated circ... |
ORPHA:29073 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy |
OMIM:618573 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Muscle weakness, Lethargy |
OMIM:605711 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine, Renal artery stenosis |
OMIM:171300 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Ketonuria, Hyperlipidemia, Glycosuria, Lethargy |
ORPHA:2089 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Lethargy |
ORPHA:26 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level |
OMIM:300539 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Congenital megaureter, Craniosynostosis, Osteopenia, Abno... |
ORPHA:369837 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Lethargy, Small for gestational age |
OMIM:312170 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hyperammonemia, Hyperisoleu... |
ORPHA:2394 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy |
OMIM:615026 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss, Lethargy, Diabetes insipidus |
ORPHA:30925 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79444 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Acute hyperammonemia, Coma, Hyperammonemia, Hyperglutaminemia, Delirium, Confu... |
ORPHA:927 |
Glut1 Deficiency Syndrome 1 |
|
Confusion, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
Multiple Carboxylase Deficiency |
|
Coma, Hyperammonemia, Organic aciduria, Limb muscle weakness, Lethargy |
ORPHA:148 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Delayed proximal femoral epiphyseal ossification, Elevate... |
ORPHA:95717 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Early Myoclonic Encephalopathy |
|
Dysphagia, Lethargy |
ORPHA:1935 |
Classic Galactosemia |
|
Reduced bone mineral density, Primary amenorrhea, Oligomenorrhea, Osteoporosis, Decreased fertili... |
ORPHA:79239 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dysphagia, Failure to thrive, Lethargy, Ophthalmoplegia |
OMIM:618226 |
Tyrosinemia, Type I |
|
Failure to thrive, Hypophosphatemic rickets, Elevated alpha-fetoprotein, Elevated urinary delta-a... |
OMIM:276700 |
Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concentration,... |
OMIM:255120 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Hyperbilirubinemia, 3-Methylglutaric aciduria, Small for gestational age, Stea... |
OMIM:557000 |
Leukoencephalopathy With Vanishing White Matter |
|
Primary amenorrhea, Secondary amenorrhea, Primary gonadal insufficiency, Premature ovarian insuff... |
OMIM:603896 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Coma, External ophthalmopleg... |
OMIM:615838 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Craniosynostosis, Reduced bone mineral density, Hypoca... |
ORPHA:89936 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Oral aversion, Decreased glomerular filtration rate... |
ORPHA:470 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Methylcobalamin Deficiency Type Cble |
|
Failure to thrive, Hypomethioninemia, Hemolytic-uremic syndrome, Osteoporosis, Glomerulopathy, Hy... |
ORPHA:2169 |
Vipoma |
|
Elevated calcitonin, Pituitary adenoma, Hypokalemia, Abnormality of the thyroid gland, Elevated c... |
ORPHA:97282 |
Propionic Acidemia |
|
Failure to thrive, Coma, Hyperglycinuria, Hyperammonemia, Osteoporosis, Hyperglycinemia, Increase... |
OMIM:606054 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Ophthalmoplegia |
OMIM:618683 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Nephr... |
ORPHA:534 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... |
OMIM:609015 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Calcinosis, Low u... |
ORPHA:79443 |
Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Lethargy |
OMIM:617105 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Ketonuria, Acute hyperammonemia, Elevated urinary 3-methylcrotonylglycine leve... |
OMIM:210200 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age |
OMIM:610498 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Coma, Hyperammonemia, Renal insufficiency, Lethargy |
ORPHA:79312 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, Type II diabetes mellitus,... |
ORPHA:398079 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Lethargy |
OMIM:618228 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Overweight, Hypernatriuria, Hypertriglycerid... |
ORPHA:90041 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Primary amenorrhea, Hypertriglyceridemia, Diabetes mellitus, Hypercholesterolemia |
OMIM:612526 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel, Hyperprolinemia, Hyperalaninemia, Failure to thrive in infancy, Lethargy |
OMIM:619064 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Renal tubular acidosis, Transient hyperlipidemia, Lethargy, Loss of consciousness |
ORPHA:156 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia, Hypocalcemia |
ORPHA:1438 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypophosphatemia, Coma, Renal insufficiency, Hyperuricemia, Hypermagnesem... |
ORPHA:469 |
Citrullinemia Type I |
|
Failure to thrive, Coma, Hyperammonemia, Elevated plasma citrulline, Lethargy, Loss of consciousness |
ORPHA:247525 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Coma, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Tubulointerstit... |
OMIM:251000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasma carnitine, D... |
OMIM:201475 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Meth... |
OMIM:614857 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Holocarboxylase Synthetase Deficiency |
|
Coma, Hyperammonemia, Organic aciduria, Weight loss, Lethargy |
ORPHA:79242 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Coma, Hyperammonemia, Renal insufficiency, Lethargy |
ORPHA:289916 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Poor head control, Muscle weakness, Lethargy |
OMIM:614299 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoka... |
ORPHA:699 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Coma, Lower limb muscle weakness, Muscle weakness, Generalized ... |
ORPHA:746 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Nephropathy |
ORPHA:2238 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Hypomethioninemia, Methylmalonic aciduria, Delirium, Confusion, Hematuria, Hom... |
OMIM:277400 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hy... |
OMIM:237300 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Congenital hypoparathyroidism, Hypocalc... |
ORPHA:93324 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
Helix Syndrome |
|
Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagn... |
OMIM:617671 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, ... |
OMIM:212138 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Acute hyperammonemia, Ketonuria, Coma, Hyperglycinuria, Hyperammonemia, Hyperl... |
OMIM:210210 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypocalcemia, Increased bone mineral density, Small for gestational age, Hype... |
OMIM:127000 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Lethargy |
ORPHA:71277 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Coma, Hyperammonemia, Elevated creatine kinase ... |
ORPHA:159 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Ophthalmoplegia |
OMIM:618225 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Abnormal blood ion concentration, Acut... |
ORPHA:173 |
Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:259900 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Congenital hypop... |
OMIM:241410 |
Gitelman Syndrome |
|
Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteroni... |
ORPHA:358 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Hyp... |
ORPHA:457059 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Hypercalcemia, Urinary incontinence |
ORPHA:476126 |
Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... |
ORPHA:53 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Failure to thrive, Bradykinesia, Hyperthyroidism, External ophthalmoplegia, Quad... |
ORPHA:254892 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis,... |
OMIM:259700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Meth... |
OMIM:251110 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Muscle weakness, ... |
OMIM:255900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:289548 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:168558 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Failure to thrive, Hyperlipidemia, Tubulointerstitial fibrosis, Enlarged kidney,... |
ORPHA:79259 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperornithinemia, Coma, Hyperammonemia, Confusion, Lethargy |
OMIM:238970 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Decreased circulating cortisol level, Hypernatriuria |
OMIM:103230 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Infantile hypercalcemia, Obesity |
ORPHA:96168 |
Maple Syrup Urine Disease |
|
Coma, Elevated plasma branched chain amino acids, Increased level of hippuric acid in urine, Elev... |
OMIM:248600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Renal insufficiency, Lethargy, Hyperammonemia |
ORPHA:27 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Infertility, Failure to thrive, Precocious puberty, Type II diabetes mellitus,... |
ORPHA:398069 |
Leprechaunism |
|
Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weight, Increased circulating re... |
ORPHA:508 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Ketonuria, Coma, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Meth... |
OMIM:251100 |
Dopa-Responsive Dystonia |
|
Poor head control, Fatigable weakness, Lethargy, Urinary incontinence |
ORPHA:255 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Calvarial hyper... |
OMIM:101800 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dysphagia, Hyperphenylalaninemia, Lethargy |
OMIM:233910 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Coma, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Lethargy |
OMIM:201450 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Elevated circul... |
ORPHA:97283 |
Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Failure to thrive, Nephrocalcinosis, Small for gestational age |
OMIM:260400 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Drowsiness, Renal insufficiency, Reduced c... |
ORPHA:33475 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Cystathioninemia,... |
OMIM:277380 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Hypokalemia, Precocious puberty, Decreased circulating cortis... |
ORPHA:90795 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increased circulatin... |
ORPHA:90673 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Coma, Elevated circulating creatine kinase concentration, Delirium,... |
ORPHA:94093 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... |
ORPHA:411536 |
Ppoma |
|
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... |
ORPHA:97278 |
Raine Syndrome |
|
Hypophosphatemia, Increased bone mineral density, Hydroureter, Neonatal death, Hydronephrosis, Su... |
OMIM:259775 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Nephropathy, Renal insufficiency |
ORPHA:1563 |
Intellectual Disability-Strabismus Syndrome |
|
Medullary nephrocalcinosis, Failure to thrive, Hypospadias, Micropenis |
ORPHA:363528 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Premature ovarian insufficiency |
ORPHA:100025 |
Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Hypoargin... |
OMIM:215700 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Elevated cir... |
OMIM:600785 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Hypoalbuminemia, H... |
OMIM:618183 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Hypokalemia, Increased urinary potassium, Adrenal hyperplasia, Muscle weakness, Decre... |
ORPHA:231580 |
Cyclic Vomiting Syndrome |
|
Muscle weakness, Lethargy |
OMIM:500007 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... |
ORPHA:26793 |
Grfoma |
|
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... |
ORPHA:97261 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Lethargy, Hyperammonemia |
OMIM:600649 |
Mastocytosis |
|
Recurrent fractures, Osteoporosis, Hypercalcemia |
ORPHA:98292 |
Encephalopathy, Recurrent, Of Childhood |
|
Lethargy |
OMIM:130950 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Nephrocalcinosis |
OMIM:618005 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Decreased serum testosterone concentration, Decreased serum zinc, Hypogonadism... |
OMIM:201100 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Ketonuria, Lethargy, Hyperammonemia |
OMIM:615751 |
Glucagonoma |
|
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... |
ORPHA:97280 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
Williams Syndrome |
|
Osteopenia, Radioulnar synostosis, Proteinuria, Failure to thrive in infancy, Nephrolithiasis, Bl... |
ORPHA:904 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Medullary nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosi... |
ORPHA:51608 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hypomethioninemia, Methylmalonic aciduria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aci... |
OMIM:277410 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Oroticaciduria, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasm... |
OMIM:311250 |
Isovaleric Acidemia |
|
Hyperglycinuria, Coma, Lethargy |
OMIM:243500 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr... |
ORPHA:93110 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... |
ORPHA:423 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Small for gestational age, Micropenis, Hypospadias |
OMIM:607143 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... |
ORPHA:84081 |
Sarcoidosis |
|
Nephrolithiasis, Bone cyst, Hyperthyroidism, Abnormality of the adrenal glands, Hypercalciuria, H... |
ORPHA:797 |
Susac Syndrome |
|
Confusion, Muscle weakness, Lethargy |
ORPHA:838 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Failure to thrive, Hypocalcemia, Steatorrhea, Rickets, Osteoporosis, Type I diabetes... |
OMIM:212750 |
Isolated Complex I Deficiency |
|
Failure to thrive, Poor head control, Increased serum pyruvate, Muscle weakness, Proximal tubulop... |
ORPHA:2609 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Hypoplasia of penis, Congenital hypoparathyroidism, Patchy oste... |
ORPHA:2323 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Micropenis |
OMIM:602361 |
Argininosuccinic Aciduria |
|
Failure to thrive, Oroticaciduria, Coma, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxica... |
OMIM:207900 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased body weight, Coma, Decreased urine output, Decreased glomerular... |
ORPHA:340 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Coma, Lethargy, Hyperammonemia |
OMIM:253270 |
Crigler-Najjar Syndrome |
|
Ophthalmoparesis, Lethargy |
ORPHA:205 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Failure to thrive, Hypomethioninemia, Homocystinuria, Lower limb muscle weakness, Hyperhomocystin... |
ORPHA:395 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diabetes mellitus |
ORPHA:49827 |
Osteogenesis Imperfecta |
|
Nephrolithiasis, Recurrent fractures, Flexion contracture, Small for gestational age, Osteopenia,... |
ORPHA:666 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... |
ORPHA:2237 |
Williams-Beuren Syndrome |
|
Osteopenia, Radioulnar synostosis, Failure to thrive in infancy, Bladder diverticulum, Flexion co... |
OMIM:194050 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Decreased ... |
OMIM:244460 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia, Nephrocalcinosis, Long penis |
ORPHA:769 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Neoplasm of the adrenal gland, Increased circulating cortisol level, Increased urina... |
ORPHA:231625 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Methylmalonic aciduria, Muscle weakness, Lethargy |
OMIM:275350 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Confusion, Increased circulating procalcit... |
ORPHA:36238 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Muscle weakness |
OMIM:175500 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentra... |
ORPHA:79284 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Wide anterior fontanel, Congenital megaureter, Elevated alpha-fetoprotein, Nephr... |
ORPHA:116 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter, Lethargy |
OMIM:274400 |
Idiopathic Intracranial Hypertension |
|
Obesity, Lethargy |
ORPHA:238624 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Lethargy |
OMIM:614922 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Muscle weakness, Lethargy |
OMIM:301790 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis |
OMIM:240300 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Osteomyelitis, Hypocalcemia, Arthritis, Weight loss |
ORPHA:47 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Coma, Facial palsy, Confusion, Hematuria, Drowsiness, Re... |
ORPHA:31826 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Coma, External ophthalmoplegia, Confusion, Dysphagia, Facial palsy, Lethargy |
OMIM:607483 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Impotence, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Dec... |
ORPHA:447 |
Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hypon... |
ORPHA:88673 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Craniosynostosis, Osteopetrosis, Reduced bon... |
ORPHA:667 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Delirium, Elevated circulating creatine kinase concentration, Confusion, Oliguria, ... |
ORPHA:466650 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Coma, 3-Methylglutaric aciduria, Hyperammonemia, Hypoglycemic coma, Hyperuricemia, Wei... |
ORPHA:20 |
Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Lethargy |
OMIM:215600 |
Evans Syndrome |
|
Muscle weakness, Lethargy |
ORPHA:1959 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy, Osteolytic defects of the middle phalanx of the 4th toe |
ORPHA:765 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Poor head control, Hyperbilirubinemia, Increased bone mineral density, Decreased os... |
OMIM:259720 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Abnormality of the endocrine system, Nephrotic syndrome, Hyperthyro... |
ORPHA:37042 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:342 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
Necrotizing Enterocolitis |
|
Lethargy, Hyponatremia, Small for gestational age |
ORPHA:391673 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Osteomyelitis, Elevated circulating creatine kinase concentration, Confusion, Recur... |
ORPHA:36234 |
Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Ketonuria, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitoleyl... |
ORPHA:79282 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperornithinemia, Coma, Oroticaciduria, Hyperammonemia, Abnormal circulating ... |
ORPHA:415 |
Encephalitis Lethargica |
|
Coma, Upper limb muscle weakness, Stiff neck, Lethargy, Urinary incontinence |
ORPHA:83600 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Abnormal circulating follicle-stimulating hormone con... |
ORPHA:93325 |
Scrub Typhus |
|
Lethargy, Renal insufficiency, Reduced consciousness/confusion |
ORPHA:83317 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Coma, Lethargy |
OMIM:229700 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Hypocalcemia |
OMIM:618476 |
Dengue Fever |
|
Lethargy, Hypoproteinemia |
ORPHA:99828 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Steatorrhea, Cachexia, Abnormal urine potassium concentration, Hypertriglyceri... |
ORPHA:275761 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Micropenis, Renal duplication, Hydronephrosis, Nephrocalcinosis |
OMIM:268310 |
Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Lethargy |
OMIM:222748 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Bone cyst, Hypercalciuria, Arthritis |
OMIM:181000 |
Typhoid |
|
Coma, Lethargy |
ORPHA:99745 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Coma, Neonatal death, Renal steatosis, Lethargy |
OMIM:228100 |
Cystic Fibrosis |
|
Failure to thrive, Male infertility, Hypercalciuria, Steatorrhea |
OMIM:219700 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... |
ORPHA:226307 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Poor head control, Coma, 3-hydroxydicarboxylic aciduria, Lacticaciduria, Hypos... |
OMIM:252010 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephroblastoma, Enlarged kidney, Nephrocalcinosis, Vesicou... |
OMIM:130650 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate... |
ORPHA:280651 |
Floating-Harbor Syndrome |
|
Small for gestational age, Renal agenesis, Hypospadias, Renal cyst, Polycystic kidney dysplasia, ... |
ORPHA:2044 |
Trisomy 8P |
|
Fetal pyelectasis, Nephrocalcinosis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:90362 |
Biotinidase Deficiency |
|
Organic aciduria, Lethargy, Hyperammonemia |
OMIM:253260 |
Biotinidase Deficiency |
|
Organic aciduria, Limb muscle weakness, Lethargy, Hyperammonemia |
ORPHA:79241 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Hydronephrosis, Micropenis |
OMIM:235255 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Osteopenia, Hypocalciuria, Joint laxity |
ORPHA:73223 |
Trichinellosis |
|
Confusion, Muscle weakness, Reduced consciousness/confusion, Dysphagia, Excessive daytime somnole... |
ORPHA:863 |
Rothmund-Thomson Syndrome |
|
Infertility, Reduced bone mineral density, Small for gestational age, Osteopenia, Abnormal trabec... |
ORPHA:2909 |
Osteopetrosis With Renal Tubular Acidosis |
|
Secondary hyperparathyroidism, Nephrolithiasis, Recurrent fractures, Hypocalcemia, Renal tubular ... |
ORPHA:2785 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Hypospadias, Microscopic nephrocalcinosis, Infertility, Hypercalciuria |
OMIM:219721 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Hypocalcemia, Graves disease, Euthyroid goiter, Hypothyroidis... |
ORPHA:64744 |
Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Osteopenia, Abnormal trabecular bone morphology, Hypothyroidism, Hypog... |
ORPHA:221008 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Coma, Decreased urine output, Nephrotic range proteinuria, Oliguria, Acute kidney i... |
ORPHA:544482 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Coma, Orchitis, Hyperammonemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:99826 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Abnormal bone ossification, Hypocalcemia, Abnormally ossified vertebrae, Limit... |
ORPHA:175 |
Ogden Syndrome |
|
Excessive daytime somnolence, Lethargy |
ORPHA:276432 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Hypocalcemia, Reduced bone mineral density, Small for gestation... |
OMIM:613658 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Aplasia/Hypoplasia of the thymus, Hypocalcemia |
ORPHA:3426 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Sotos Syndrome |
|
Hip contracture, Ankle flexion contracture, Flexion contracture, Craniosynostosis, Renal agenesis... |
ORPHA:821 |
Arthrogryposis Multiplex Congenita 5 |
|
Medullary nephrocalcinosis |
OMIM:618947 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Lethargy |
OMIM:617397 |
Amoebiasis Due To Free-Living Amoebae |
|
Coma, Intrarenal abscess, Oculomotor nerve palsy, Abnormality of the adrenal glands, Confusion, F... |
ORPHA:68 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroidism, Ectopic... |
OMIM:218700 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, ... |
OMIM:619534 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology, Hypocalcemic seizures |
OMIM:612301 |
Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Osteoporosis, Tubulointerst... |
OMIM:218330 |
Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Osteopenia, Synostosis involving bones of the upper limbs, Abnormal tr... |
ORPHA:221016 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Hydronephrosis, Congenital posterior urethral valve, Nephroca... |
OMIM:136140 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Abnormality of the urinary system, Nephrocalci... |
ORPHA:79500 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Confusion, Dysphagia, Generalized muscle weakness, Lethargy, Urinary incontinence |
ORPHA:306674 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Ophthalmoplegia |
OMIM:618321 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Lethargy |
ORPHA:319218 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Renal cyst, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:137675 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... |
OMIM:619991 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Failure to thrive, Hypocalcemia, Hyperthyroidism, Hypospadias, Hypoplasia of ... |
ORPHA:567 |
Semilobar Holoprosencephaly |
|
Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Failure to thrive, Abnormality of the endocrine system, Decreased response to growth hormone stim... |
ORPHA:93924 |
Medulloblastoma |
|
Total ophthalmoplegia, Lethargy |
ORPHA:616 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Lethargy |
ORPHA:1329 |
Hennekam Syndrome |
|
Hypocalcemia, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal insufficiency, Hyperuricemia, Muscle... |
ORPHA:97214 |
Glycine Encephalopathy |
|
Hyperglycinemia, Lethargy |
ORPHA:407 |
Thymic Aplasia |
|
Failure to thrive, Hypocalcemic tetany, Recurrent urinary tract infections |
ORPHA:83471 |
Hydranencephaly |
|
Lethargy, Stiff neck, Atrophic pituitary gland |
ORPHA:2177 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Hypomagnesemia, Hypocalcemia, Failure to thrive, Decreased response to growth ho... |
OMIM:619503 |
Blackfan-Diamond Anemia |
|
Small for gestational age, Renal agenesis, Hypospadias, Horseshoe kidney, Lethargy |
ORPHA:124 |