| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Self-bitin... |
OMIM:618314 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures |
OMIM:146200 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... |
ORPHA:405 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures |
ORPHA:2239 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... |
OMIM:601198 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... |
OMIM:248190 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... |
ORPHA:199343 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... |
OMIM:616963 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalce... |
ORPHA:36913 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... |
OMIM:239500 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Hartnup Disorder |
|
Neutral hyperaminoaciduria, Emotional lability, Attention deficit hyperactivity disorder, Hyperac... |
OMIM:234500 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness,... |
OMIM:605899 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia... |
ORPHA:428 |
| Pseudohypoparathyroidism Type 1B |
|
Depression, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemi... |
ORPHA:94089 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria |
OMIM:612286 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Phenylketonuria |
|
Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ... |
OMIM:261600 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... |
OMIM:612462 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Irritability, Hyposthenuria, Red... |
OMIM:300539 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Polydipsia, Nephrolithiasis, Polyuria, Hypercalcemia |
OMIM:617994 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Pseudohypoparathyroidism, Type Ia |
|
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia, Co... |
OMIM:103580 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyper... |
ORPHA:94093 |
| Gitelman Syndrome |
|
Hypocalciuria, Polydipsia, Renal magnesium wasting, Enuresis, Hypomagnesemia, Hypokalemia, Salt c... |
OMIM:263800 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... |
ORPHA:99879 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia |
ORPHA:280062 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... |
ORPHA:73224 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinuria, Short attention span, Hyperlysinemia, Cystinuria, Cognitive imp... |
OMIM:238700 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Depression, Hypocalciuria, Multiple small medullary renal cysts, Renal insuffici... |
OMIM:600740 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets |
OMIM:193100 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Hydroxyprolinemia, Hypercalciuria, Increased... |
OMIM:239000 |
| Pseudohypoparathyroidism Type 1C |
|
Depression, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Confusion, ... |
ORPHA:79444 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... |
OMIM:211900 |
| Morm Syndrome |
|
Micropenis, Aggressive behavior, Hyperactivity, Abnormality of the kidney |
ORPHA:75858 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Polydipsia, Proxima... |
ORPHA:411634 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Increased urinary disaccharide excretion, Hyperactivity |
OMIM:248510 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Hypokalem... |
ORPHA:213 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Confusion, Elev... |
ORPHA:340 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, Inappropriate behavior, Nephrolithiasis, Aggressive b... |
OMIM:619827 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... |
ORPHA:157215 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... |
ORPHA:411629 |
| Pseudohypoparathyroidism Type 1A |
|
Depression, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Confusion, ... |
ORPHA:79443 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Polydipsia, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calcino... |
OMIM:239200 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... |
OMIM:616026 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... |
ORPHA:423 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn... |
ORPHA:94059 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Aggressive behavior, Hyperactivity, Irritability |
ORPHA:2382 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Landau-Kleffner Syndrome |
|
Memory impairment, Depression, Short attention span, Emotional lability, Aggressive behavior, Att... |
ORPHA:98818 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi... |
OMIM:227810 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urinary porphobili... |
ORPHA:100924 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased le... |
OMIM:271980 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria |
ORPHA:2197 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Polydipsia, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav... |
OMIM:612780 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Hypophosphatemia, Abnormality of the kidney |
ORPHA:2611 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc... |
OMIM:241530 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... |
OMIM:615516 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Hypospadias |
OMIM:201710 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... |
ORPHA:2088 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... |
OMIM:613090 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Dysphagia, Aminoacidu... |
OMIM:219800 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... |
OMIM:602522 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating c... |
ORPHA:466650 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... |
ORPHA:84081 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hyperphosphatemia |
OMIM:101800 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... |
OMIM:620141 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D... |
OMIM:605911 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... |
OMIM:143880 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria |
OMIM:613677 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... |
OMIM:619743 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... |
OMIM:613845 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Polydipsia, Renal insufficiency, Decreased circulating renin level, Hypokalemia... |
ORPHA:320 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Memory impairment, Enuresis, Decreased HDL cholesterol concentration, Confusion,... |
ORPHA:247585 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... |
ORPHA:89938 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia |
ORPHA:352540 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, A... |
OMIM:307800 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria |
OMIM:602722 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia |
OMIM:145980 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia |
OMIM:264350 |
| Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Irritability, Hypercalci... |
OMIM:241500 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
| Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... |
ORPHA:31824 |
| X-Linked Adrenoleukodystrophy |
|
Urinary bladder sphincter dysfunction, Disinhibition, Aggressive behavior, Attention deficit hype... |
ORPHA:43 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level |
OMIM:619406 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... |
OMIM:620242 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Urinary hesitancy, Hyperactivity, Nocturia, Urinary incontinence, Ur... |
OMIM:609727 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:99880 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... |
OMIM:218330 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:143 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia, Irritability |
OMIM:277440 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated urinary dihy... |
OMIM:222748 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level |
ORPHA:556037 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia |
OMIM:614736 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
OMIM:145981 |
| Helix Syndrome |
|
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... |
OMIM:617671 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... |
ORPHA:85450 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... |
ORPHA:427 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... |
OMIM:601678 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... |
ORPHA:449291 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231580 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... |
OMIM:611489 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
| Graves Disease |
|
Polyphagia, Hyperactivity, Irritability |
OMIM:275000 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia,... |
OMIM:229600 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level |
ORPHA:556030 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... |
OMIM:241200 |
| Argininemia |
|
Oroticaciduria, Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Diaminoa... |
OMIM:207800 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia |
OMIM:614732 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia, Nephrolithiasis |
ORPHA:93160 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:613312 |
| Mucopolysaccharidosis, Type Iiib |
|
Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excretion in urine, Hy... |
OMIM:252920 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Self-injurious be... |
ORPHA:534 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Anorexia, Renal salt wasting, H... |
ORPHA:361 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria, Polydipsia |
ORPHA:251274 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Progressive languag... |
OMIM:610042 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| Acute Adrenal Insufficiency |
|
Renal insufficiency, Hyperuricemia, Hyponatremia, Salt craving, Decreased urinary potassium, Anor... |
ORPHA:95409 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias |
OMIM:201910 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... |
ORPHA:79102 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Renal tubular dysfunction |
ORPHA:562 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Proteinuria, Renal cy... |
ORPHA:699 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting |
OMIM:300200 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Abn... |
ORPHA:289176 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Hyperch... |
ORPHA:275761 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis |
OMIM:219090 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Emotional lability, Hyper... |
OMIM:620047 |
| Oculoskeletodental Syndrome |
|
Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia |
OMIM:618440 |
| Addison Disease |
|
Hyperuricemia, Hyponatremia, Salt craving, Decreased urinary potassium, Anorexia, Renal salt wast... |
ORPHA:85138 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Increased c... |
ORPHA:90791 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231625 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... |
OMIM:612716 |
| Raine Syndrome |
|
Hydronephrosis, Hypophosphatemia, Hydroureter |
OMIM:259775 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Polydipsia, Hypomagnesemia, Hypoca... |
ORPHA:358 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria |
ORPHA:89936 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
ORPHA:436271 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... |
OMIM:277900 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... |
ORPHA:168558 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... |
ORPHA:90795 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... |
ORPHA:289548 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
OMIM:220110 |
| Arima Syndrome |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... |
OMIM:243910 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Hyperoxaluria, Stag... |
ORPHA:416 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:163200 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormal temper tantrums, Hypocalciuria, Hypophosphaturia, Short attention span, Aggressive behav... |
ORPHA:73223 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria |
OMIM:615398 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... |
OMIM:309000 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Hyperbilirubinemia, Renal Fanconi syndrome, Hypercalciuria, Complex or... |
OMIM:557000 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype... |
ORPHA:90041 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid... |
ORPHA:369837 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Hypernatriuria, Hyponatremia, Elevated urinary epinephrine level, Urogenital sinus an... |
ORPHA:90794 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Elevated urinary c... |
ORPHA:653 |
| Williams Syndrome |
|
Overfriendliness, Depression, Renal insufficiency, Renal duplication, Attention deficit hyperacti... |
ORPHA:904 |
| Multiple Endocrine Neoplasia Type 1 |
|
Depression, Confusion, Short attention span, Nephrolithiasis, Hypercalciuria, Anorexia, Hypercalc... |
ORPHA:652 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Renal artery st... |
OMIM:194050 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged kidney, Increased circulating... |
ORPHA:508 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren... |
ORPHA:116 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria, Anorexia |
OMIM:181000 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Dysphagia, Nephrolithiasis |
ORPHA:666 |
| Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemic rickets... |
ORPHA:51608 |
| Sarcoidosis |
|
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephri... |
ORPHA:797 |
| Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
